Section 10

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Asamoto, M.; Mann, A.M.; Macatee, T.L.; Cohen, S.M. 1994: Mutations and expression of the p53 gene in rat bladder carcinomas and cell lines. Molecular Carcinogenesis 9(4): 236-244
Gougopoulou, D.M.; Kiaris, H.; Ergazaki, M.; Anagnostopoulos, N.I.; Grigoraki, V.; Spandidos, D.A. 1996: Mutations and expression of the ras family genes in leukemias. Stem Cells 14(6): 725-729
Kagawa, H.; Takuwa, K.; Sakube, Y. 1997: Mutations and expressions of the tropomyosin gene and the troponin C gene of Caenorhabditis elegans. Cell Structure and Function 22(1): 213-218
Schiffer, D.; Cavalla, P.; Di Sapio, A.; Giordana, M.T.; Mauro, A. 1995: Mutations and immunohistochemistry of p53 and proliferation markers in astrocytic tumors of childhood. Child's Nervous System: Chns: Official Journal of the International Society for Pediatric Neurosurgery 11(9): 517-522
Soreq, H.; Ehrlich, G.; Schwarz, M.; Loewenstein, Y.; Glick, D.; Zakut, H. 1994: Mutations and impaired expression in the ACHE and BCHE genes: neurological implications. Biomedicine and Pharmacotherapy 48(5-6): 253-259
Nádas, A.; Goncharova, E.I.; Rossman, T.G. 1996: Mutations and infinity: improved statistical methods for estimating spontaneous rates. Environmental and Molecular Mutagenesis 28(2): 90-99
Hangaishi, A.; Ogawa, S.; Mitani, K.; Hosoya, N.; Chiba, S.; Yazaki, Y.; Hirai, H. 1997: Mutations and loss of expression of a mismatch repair gene, hMLH1, in leukemia and lymphoma cell lines. Blood 89(5): 1740-1747
Smulders, R.H.; van Boekel, M.A.; de Jong, W.W. 1998: Mutations and modifications support a 'pitted-flexiball' model for alpha-crystallin. International Journal of Biological Macromolecules 22(3-4): 187-196
Fujiwara, M.; Honda, Y.; Inoue, H.; Hayatsu, H.; Arimoto, S. 1996: Mutations and oxidative DNA damage in phage M13mp2 exposed to N-nitrosomorpholine plus near-ultraviolet light. Carcinogenesis 17(2): 213-218
Walker, A.P.; Muscatelli, F.; Stafford, A.N.; Chelly, J.; Dahl, N.; Blomquist, H.K.; Delanghe, J.; Willems, P.J.; Steinmann, B.; Monaco, A.P. 1996: Mutations and phenotype in isolated glycerol kinase deficiency. American Journal of Human Genetics 58(6): 1205-1211
Tuchman, M.; Plante, R.J. 1995: Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum. Human Mutation 5(4): 293-295
Keen, T.J.; Inglehearn, C.F. 1996: Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. Human Mutation 8(4): 297-303
Heinzel, P.A.; Balaram, P.; Bernard, H.U. 1996: Mutations and polymorphisms in the p53, p21 and p16 genes in oral carcinomas of Indian betel quid chewers. International Journal of Cancer 68(4): 420-423
Palmer, M.S.; Collinge, J. 1993: Mutations and polymorphisms in the prion protein gene. Human Mutation 2(3): 168-173
Au, K.S.; Rodriguez, J.A.; Rodriguez, E.; Dobyns, W.B.; Delgado, M.R.; Northrup, H. 1997: Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16. Human Mutation 9(1): 23-29
Colombo, I.; Finocchiaro, G.; Garavaglia, B.; Garbuglio, N.; Yamaguchi, S.; Frerman, F.E.; Berra, B.; DiDonato, S. 1994: Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II. Human Molecular Genetics 3(3): 429-435
Veitia, R.; Ion, A.; Barbaux, S.; Jobling, M.A.; Souleyreau, N.; Ennis, K.; Ostrer, H.; Tosi, M.; Meo, T.; Chibani, J.; Fellous, M.; Mcelreavey, K. 1997: Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype. Human Genetics 99(5): 648-652
Tsui, L.C. 1992: Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Human Mutation 1(3): 197-203
Melander, O.; Orho, M.; Fagerudd, J.; Bengtsson, K.; Groop, P.H.; Mattiasson, I.; Groop, L.; Hulthén, U.L. 1998: Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension. Hypertension 31(5): 1118-1124
Rabizadeh, S.; Gralla, E.B.; Borchelt, D.R.; Gwinn, R.; Valentine, J.S.; Sisodia, S.; Wong, P.; Lee, M.; Hahn, H.; Bredesen, D.E. 1995: Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene to a proapoptotic gene: studies in yeast and neural cells. Proceedings of the National Academy of Sciences of the United States of America 92(7): 3024-3028
Yamamoto, Y.; Kishimoto, Y.; Virmani, A.K.; Smith, A.; Vuitch, F.; Albores-Saavedra, J.; Gazdar, A.F. 1996: Mutations associated with carcinomas arising from pleomorphic adenomas of the salivary glands. Human Pathology 27(8): 782-786
Sreevatsan, S.; Pan, X.; Zhang, Y.; Kreiswirth, B.N.; Musser, J.M. 1997: Mutations associated with pyrazinamide resistance in pncA of Mycobacterium tuberculosis complex organisms. Antimicrobial Agents and ChemoTherapy 41(3): 636-640
McConville, C.M.; Stankovic, T.; Byrd, P.J.; McGuire, G.M.; Yao, Q.Y.; Lennox, G.G.; Taylor, M.R. 1996: Mutations associated with variant phenotypes in ataxia-telangiectasia. American Journal of Human Genetics 59(2): 320-330
Eisinger, F.; Jacquemier, J.; Charpin, C.; Stoppa-Lyonnet, D.; Bressac-de Paillerets, B.; Peyrat, J.P.; Longy, M.; Guinebretière, J.M.; Sauvan, R.; Noguchi, T.; Birnbaum, D.; Sobol, H. 1998: Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Research 58(8): 1588-1592
Ma, L.; Kantrowitz, E.R. 1994: Mutations at histidine 412 alter zinc binding and eliminate transferase activity in Escherichia coli alkaline phosphatase. Journal of Biological Chemistry 269(50): 31614-31619
Konola, J.T.; Nastri, H.G.; Logan, K.M.; Knight, K.L. 1995: Mutations at Pro67 in the RecA protein P-loop motif differentially modify coprotease function and separate coprotease from recombination activities. Journal of Biological Chemistry 270(15): 8411-8419
O'Connor, M.; Dahlberg, A.E. 1993: Mutations at U2555, a tRNA-protected base in 23S rRNA, affect translational fidelity. Proceedings of the National Academy of Sciences of the United States of America 90(19): 9214-9218
Gong, J.; Kay, C.J.; Barber, M.J.; Ferreira, G.C. 1996: Mutations at a glycine loop in aminolevulinate synthase affect pyridoxal phosphate cofactor binding and catalysis. Biochemistry 35(45): 14109-14117
Rajamohan, F.; Hussain, S.R.; Cotrill, J.A.; Gould, F.; Dean, D.H. 1996: Mutations at domain II, loop 3, of Bacillus thuringiensis CryIAa and CryIAb delta-endotoxins suggest loop 3 is involved in initial binding to lepidopteran midguts. Journal of Biological Chemistry 271(41): 25220-25226
Bouzat, C.; Roccamo, A.M.; Garbus, I.; Barrantes, F.J. 1998: Mutations at lipid-exposed residues of the acetylcholine receptor affect its gating kinetics. Molecular Pharmacology 54(1): 146-153
He, Q.Y.; Mason, A.B.; Woodworth, R.C.; Tam, B.M.; MacGillivray, R.T.; Grady, J.K.; Chasteen, N.D. 1998: Mutations at nonliganding residues Tyr-85 and Glu-83 in the N-lobe of human serum transferrin. Functional second shell effects. Journal of Biological Chemistry 273(27): 17018-17024
Green, R.; Samaha, R.R.; Noller, H.F. 1997: Mutations at nucleotides G2251 and U2585 of 23 S rRNA perturb the peptidyl transferase center of the ribosome. Journal of Molecular Biology 266(1): 40-50
Zurcher, T.; Luo, G.; Palese, P. 1994: Mutations at palmitylation sites of the influenza virus hemagglutinin affect virus formation. Journal of Virology 68(9): 5748-5754
Hodgson, D.R.; May, F.E.; Westley, B.R. 1995: Mutations at positions 11 and 60 of insulin-like growth factor 1 reveal differences between its interactions with the type I insulin-like-growth-factor receptor and the insulin receptor. European Journal of Biochemistry 233(1): 299-309
Pinard, R.; Payant, C.; Brakier-Gingras, L. 1995: Mutations at positions 13 and/or 914 in Escherichia coli 16S ribosomal RNA interfere with the initiation of protein synthesis. Biochemistry 34(29): 9611-9616
Murphy, J.E.; Tibbitts, T.T.; Kantrowitz, E.R. 1995: Mutations at positions 153 and 328 in Escherichia coli alkaline phosphatase provide insight towards the structure and function of mammalian and yeast alkaline phosphatases. Journal of Molecular Biology 253(4): 604-617
Pei, Z.D.; Williamson, J.R. 1998: Mutations at residues Tyr771 and Tyr783 of phospholipase C-gamma1 have different effects on cell actin-cytoskeleton organization and cell proliferation in CCL-39 cells. Febs Letters 423(1): 53-56
Hammarberg, T.; Zhang, Y.Y.; Lind, B.; Radmark, O.; Samuelsson, B. 1995: Mutations at the C-terminal isoleucine and other potential iron ligands of 5-lipoxygenase. European Journal of Biochemistry 230(2): 401-407
Cable, J.; Jackson, I.J.; Steel, K.P. 1995: Mutations at the W locus affect survival of neural crest-derived melanocytes in the mouse. Mechanisms of Development 50(2-3): 139-150
Housset, V.; Darlix, J.L. 1996: Mutations at the capsid-nucleocapsid cleavage site of gag polyprotein of Moloney murine leukemia virus abolish virus infectivity. Comptes Rendus de l'Academie des Sciences. Serie Iii Sciences de la Vie 319(2): 81-89
Rabinow, L.; Chiang, S.L.; Birchler, J.A. 1993: Mutations at the Darkener of apricot locus modulate transcript levels of copia and copia-induced mutations in Drosophila melanogaster. Genetics 134(4): 1175-1185
Grishina, G.; Berlot, C.H. 1998: Mutations at the domain interface of GSalpha impair receptor-mediated activation by altering receptor and guanine nucleotide binding. Journal of Biological Chemistry 273(24): 15053-15060
Legault, P.; Herschlag, D.; Celander, D.W.; Cech, T.R. 1992: Mutations at the guanosine-binding site of the Tetrahymena ribozyme also affect site-specific hydrolysis. Nucleic Acids Research 20(24): 6613-6619
Appelgren, H.; Cederberg, H.; Rannug, U. 1997: Mutations at the human minisatellite MS32 integrated in yeast occur with high frequency in meiosis and involve complex recombination events. Molecular and General Genetics: Mgg 256(1): 7-17
Anderson, R.A.; Byrum, R.S.; Coates, P.M.; Sando, G.N. 1994: Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. Proceedings of the National Academy of Sciences of the United States of America 91(7): 2718-2722
Shultz, L.D.; Schweitzer, P.A.; Rajan, T.V.; Yi, T.; Ihle, J.N.; Matthews, R.J.; Thomas, M.L.; Beier, D.R. 1993: Mutations at the murine motheaten locus are within the hematopoietic cell protein-tyrosine phosphatase (Hcph) gene. Cell 73(7): 1445-1454
Bassham, D.C.; Creighton, A.M.; Karnauchov, I.; Herrmann, R.G.; Klösgen, R.B.; Robinson, C. 1994: Mutations at the stromal processing peptidase cleavage site of a thylakoid lumen protein precursor affect the rate of processing but not the fidelity. Journal of Biological Chemistry 269(23): 16062-16066
Fredericksen, B.L.; Whitt, M.A. 1996: Mutations at two conserved acidic amino acids in the glycoprotein of vesicular stomatitis virus affect pH-dependent conformational changes and reduce the pH threshold for membrane fusion. Virology 217(1): 49-57
Firpo, M.A.; Connelly, M.B.; Goss, D.J.; Dahlberg, A.E. 1996: Mutations at two invariant nucleotides in the 3'-minor domain of Escherichia coli 16 S rRNA affecting translational initiation and initiation factor 3 function. Journal of Biological Chemistry 271(9): 4693-4698
Bizouarn, T.; Grimley, R.; Diggle, C.; Thomas, C.M.; Jackson, J.B. 1997: Mutations at tyrosine-235 in the mobile loop region of domain I protein of transhydrogenase from Rhodospirillum rubrum strongly inhibit hydride transfer. Biochimica Et Biophysica Acta 1320(3): 265-274
Flanagan, J.M.; Kataoka, M.; Fujisawa, T.; Engelman, D.M. 1993: Mutations can cause large changes in the conformation of a denatured protein. Biochemistry 32(39): 10359-10370
Sikpi, M.O.; Dry, S.M.; Freedman, M.L.; Lurie, A.G. 1992: Mutations caused by gamma-radiation-induced double-strand breaks in a shuttle plasmid replicated in human lymphoblasts. International Journal of Radiation Biology 62(5): 555-562
Horowitz, M.; Zimran, A. 1994: Mutations causing Gaucher disease. Human Mutation 3(1): 1-11
Kellenberger, S.; Gautschi, I.; Rossier, B.C.; Schild, L. 1998: Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. Journal of Clinical Investigation 101(12): 2741-2750
Nguyen, H.B.; Estacion, M.; Gargus, J.J. 1997: Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts. Human Molecular Genetics 6(5): 681-688
Ikonen, E.; Peltonen, L. 1992: Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. Human Mutation 1(5): 361-365
Harashima, S.; Mizuno, T.; Mabuchi, H.; Yoshimitsu, S.; Ramesh, R.; Hasebe, M.; Tanaka, A.; Oshima, Y. 1995: Mutations causing high basal level transcription that is independent of transcriptional activators but dependent on chromosomal position in Saccharomyces cerevisiae. Molecular and General Genetics: Mgg 247(6): 716-725
Lindstrom, J. 1998: Mutations causing muscle weakness. Proceedings of the National Academy of Sciences of the United States of America 95(16): 9070-9071
Chakrani, F.; Armand, J.P.; Lenoir, G.; Ju, L.Y.; Liang, J.P.; May, E.; May, P. 1995: Mutations clustered in exon 5 of the p53 gene in primary nasopharyngeal carcinomas from southeastern Asia. International Journal of Cancer 61(3): 316-320
Morgan, P.G.; Sedensky, M.M. 1994: Mutations conferring new patterns of sensitivity to volatile anesthetics in Caenorhabditis elegans. Anesthesiology 81(4): 888-898
Allshire, R.C.; Nimmo, E.R.; Ekwall, K.; Javerzat, J.P.; Cranston, G. 1995: Mutations derepressing silent centromeric domains in fission yeast disrupt chromosome segregation. Genes and Development 9(2): 218-233
Murchison, H.A.; Alden, R.G.; Allen, J.P.; Peloquin, J.M.; Taguchi, A.K.; Woodbury, N.W.; Williams, J.C. 1993: Mutations designed to modify the environment of the primary electron donor of the reaction center from Rhodobacter sphaeroides: Phenylalanine to leucine at L167 and histidine to phenylalanine at L168. Biochemistry 32(13): 3498-3505
Trowe, T.; Klostermann, S.; Baier, H.; Granato, M.; Crawford, A.D.; Grunewald, B.; Hoffmann, H.; Karlstrom, R.O.; Meyer, S.U.; Müller, B.; Richter, S.; Nüsslein-Volhard, C.; Bonhoeffer, F. 1996: Mutations disrupting the ordering and topographic mapping of axons in the retinotectal projection of the zebrafish, Danio rerio. Development 123: 439-450
Dore, J.M.; Gras, E.; Depierre, F.; Wijdenes, J. 1993: Mutations dissociating the inhibitory activity of the pokeweed antiviral protein on eukaryote translation and Escherichia coli growth. Nucleic Acids Research 21(18): 4200-4205
Lee, E.; Manoil, C. 1994: Mutations eliminating the protein export function of a membrane-spanning sequence. Journal of Biological Chemistry 269(46): 28822-28828
Bilgin, N.; Ehrenberg, M. 1994: Mutations in 23 S ribosomal RNA perturb transfer RNA selection and can lead to streptomycin dependence. Journal of Molecular Biology 235(3): 813-824
Versalovic, J.; Shortridge, D.; Kibler, K.; Griffy, M.V.; Beyer, J.; Flamm, R.K.; Tanaka, S.K.; Graham, D.Y.; Go, M.F. 1996: Mutations in 23S rRNA are associated with clarithromycin resistance in Helicobacter pylori. Antimicrobial Agents and ChemoTherapy 40(2): 477-480
Schoenfeld, J.R.; Tom, J.Y.; Lowe, D.G. 1997: Mutations in B-type natriuretic peptide mediating receptor-A selectivity. Febs Letters 414(2): 263-267
Serova, O.M.; Mazoyer, S.; Puget, N.; Dubois, V.; Tonin, P.; Shugart, Y.Y.; Goldgar, D.; Narod, S.A.; Lynch, H.T.; Lenoir, G.M. 1997: Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?. American Journal of Human Genetics 60(3): 486-495
Ghim, S.Y.; Switzer, R.L. 1996: Mutations in Bacillus subtilis PyrR, the pyr regulatory protein, with defects in regulation by pyrimidines. Fems Microbiology Letters 137(1): 13-18
Conley, M.E.; Mathias, D.; Treadaway, J.; Minegishi, Y.; Rohrer, J. 1998: Mutations in btk in patients with presumed X-linked agammaglobulinemia. American Journal of Human Genetics 62(5): 1034-1043
Sheppard, D.N.; Rich, D.P.; Ostedgaard, L.S.; Gregory, R.J.; Smith, A.E.; Welsh, M.J. 1993: Mutations in CFTR associated with mild-disease from chloride channels with altered pore properties. Nature (London) 362(6416): 160-164
Morimoto, T.; Uchida, S.; Sakamoto, H.; Kondo, Y.; Hanamizu, H.; Fukui, M.; Tomino, Y.; Nagano, N.; Sasaki, S.; Marumo, F. 1998: Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria. Journal of the American Society of Nephrology: Jasn 9(5): 811-818
Malladi, A.; Quinlan, M.P. 1997: Mutations in CR1 of E1A 12S yield dominant negative suppressors of immortalization and the lytic cycle. Virology 233(1): 51-62
Bejjani, B.A.; Lewis, R.A.; Tomey, K.F.; Anderson, K.L.; Dueker, D.K.; Jabak, M.; Astle, W.F.; Otterud, B.; Leppert, M.; Lupski, J.R. 1998: Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. American Journal of Human Genetics 62(2): 325-333
Katabuchi, H.; van Rees, B.; Lambers, A.R.; Ronnett, B.M.; Blazes, M.S.; Leach, F.S.; Cho, K.R.; Hedrick, L. 1995: Mutations in DNA mismatch repair genes are not responsible for microsatellite instability in most sporadic endometrial carcinomas. Cancer Research 55(23): 5556-5560
Royzman, I.; Whittaker, A.J.; Orr-Weaver, T.L. 1997: Mutations in Drosophila DP and E2F distinguish G1-S progression from an associated transcriptional program. Genes and Development 11(15): 1999-2011
Manilal, S.; Recan, D.; Sewry, C.A.; Hoeltzenbein, M.; Llense, S.; Leturcq, F.; Deburgrave, N.; Barbot, J.; Man, N.; Muntoni, F.; Wehnert, M.; Kaplan, J.; Morris, G.E. 1998: Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Human Molecular Genetics 7(5): 855-864
Schell, U.; Hehr, A.; Feldman, G.J.; Robin, N.H.; Zackai, E.H.; de Die-Smulders, C.; Viskochil, D.H.; Stewart, J.M.; Wolff, G.; Ohashi, H. 1995: Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Human Molecular Genetics 4(3): 323-328
Rieux-Laucat, F.; Le Deist, F.; Hivroz, C.; Roberts, I.A.; Debatin, K.M.; Fischer, A.; de Villartay, J.P. 1995: Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268(5215): 1347-1349
Aleshkin, G.I.; Komissarova, L.V.; Savel'eva, R.A.; Zakharenko, V.I.; Loginskii, P.Y.; Skavronskaya, A.G. 1992: Mutations in Francisella tularensis decreasing the bacterial virulence and resulting in the immune response changes in the infected laboratory animals. Molekulyarnaya Genetika Mikrobiologiya i Virusologiya 1992(1-2): 23-29
Trueb, R.M. 1995: Mutations in G proteins. Hautarzt 46(9): 603-606
Uemura, H.; Jigami, Y. 1995: Mutations in GCR1, a transcriptional activator of Saccharomyces cerevisiae glycolytic genes, function as suppressors of gcr2 mutations. Genetics 139(2): 511-521
Uemura, H.; Pandit, S.; Jigami, Y.; Sternglanz, R. 1996: Mutations in GCR3, a gene involved in the expression of glycolytic genes in Saccharomyces cerevisiae, suppress the temperature-sensitive growth of hpr1 mutants. Genetics 142(4): 1095-1103
Sherwood, P.W.; Carlson, M. 1997: Mutations in GSF1 and GSF2 alter glucose signaling in Saccharomyces cerevisiae. Genetics 147(2): 557-566
Belitsky, B.R.; Sonenshein, A.L. 1995: Mutations in GltC that increase Bacillus subtilis gltA expression. Journal of Bacteriology 177(19): 5696-5700
Cameron, C.E.; Ghosh, M.; Le Grice, S.F.; Benkovic, S.J. 1997: Mutations in HIV reverse transcriptase which alter RNase H activity and decrease strand transfer efficiency are suppressed by HIV nucleocapsid protein. Proceedings of the National Academy of Sciences of the United States of America 94(13): 6700-6705
Zablewska, B.; Kur, J. 1995: Mutations in HU and IHF affect bacteriophage T4 growth: HimD subunits of IHF appear to function as homodimers. Gene 160(1): 131-132
Hofstra, R.M.; Osinga, J.; Buys, C.H. 1997: Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype. European Journal of Human Genetics: Ejhg 5(4): 180-185
Cutforth, T.; Rubin, G.M. 1994: Mutations in Hsp83 and cdc37 impair signaling by the sevenless receptor tyrosine kinase in Drosophila. Cell 77(7): 1027-1036
Weber, J.S.; Berry, J.; Manser, T.; Claflin, J.L. 1994: Mutations in Ig V(D)J genes are distributed asymmetrically and independently of the position of V(D)J. Journal of Immunology 153(8): 3594-3602
Ruiz, J.C.; Cuppens, H.; Legius, E.; Fryns, J.P.; Glover, T.; Marynen, P.; Cassiman, J.J. 1995: Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. Journal of Medical Genetics 32(7): 549-552
Welihinda, A.A.; Beavis, A.D.; Trumbly, R.J. 1994: Mutations in LIS1 (ERG6) gene confer increased sodium and lithium uptake in Saccharomyces cerevisiae. Biochimica et Biophysica Acta 1193(1): 107-117
Cohen, B.N.; Labarca, C.; Davidson, N.; Lester, H.A. 1992: Mutations in M2 alter the selectivity of the mouse nicotinic acetylcholine receptor for organic and alkali metal cations. Journal of General Physiology 100(3): 373-400
Chen, X.J.; Clark-Walker, G.D. 1993: Mutations in MGI genes convert Kluyveromyces lactis into a petite-positive yeast. Genetics 133(3): 517-525
Nydam, T.; Wade, T.K.; Yadati, S.; Gabriel, J.L.; Barisas, B.G.; Wade, W.F. 1998: Mutations in MHC class II dimer of dimers contact residues: effects on antigen presentation. International Immunology 10(8): 1237-1249
Herfarth, K.K.; Kodner, I.J.; Whelan, A.J.; Ivanovich, J.L.; Bracamontes, J.R.; Wells, S.A.; Goodfellow, P.J. 1997: Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability. Genes Chromosomes and Cancer 18(1): 42-49
Prüss, B.M.; Nelms, J.M.; Park, C.; Wolfe, A.J. 1994: Mutations in NADH:ubiquinone oxidoreductase of Escherichia coli affect growth on mixed amino acids. Journal of Bacteriology 176(8): 2143-2150
Cai, Z.H.; Hwang, Y.; Cue, D.; Catalano, C.; Feiss, M. 1997: Mutations in Nu1, the gene encoding the small subunit of bacteriophage lambda terminase, suppress the postcleavage DNA packaging defect of cosB mutations. Journal of Bacteriology 179(8): 2479-2485
McNulty-Kowalczyk, A.; Paoletti, E. 1993: Mutations in ORF D13L and other genetic loci alter the rifampicin phenotype of vaccinia virus. Virology 194(2): 638-646
Aral, B.; Benelli, C.; Ait-Ghezala, G.; Amessou, M.; Fouque, F.; Maunoury, C.; Créau, N.; Kamoun, P.; Marsac, C. 1997: Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. American Journal of Human Genetics 61(6): 1318-1326
Okumoto, K.; Itoh, R.; Shimozawa, N.; Suzuki, Y.; Tamura, S.; Kondo, N.; Fujiki, Y. 1998: Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B. Human Molecular Genetics 7(9): 1399-1405
Lapinskas, P.J.; Cunningham, K.W.; Liu, X.F.; Fink, G.R.; Culotta, V.C. 1995: Mutations in PMR1 suppress oxidative damage in yeast cells lacking superoxide dismutase. Molecular and Cellular Biology 15(3): 1382-1388
Ruskin, B.; Fink, G.R. 1993: Mutations in POL1 increase the mitotic instability of tandem inverted repeats in Saccharomyces cerevisiae. Genetics 134(1): 43-56
Friedman, H.; Snyder, M. 1994: Mutations in PRG1, a yeast proteasome-related gene, cause defects in nuclear division and are suppressed by deletion of a mitotic cyclin gene. Proceedings of the National Academy of Sciences of the United States of America 91(6): 2031-2035
Tashiro, H.; Blazes, M.S.; Wu, R.; Cho, K.R.; Bose, S.; Wang, S.I.; Li, J.; Parsons, R.; Ellenson, L.H. 1997: Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. Cancer Research 57(18): 3935-3940
Horan, G.S.; Kovàcs, E.N.; Behringer, R.R.; Featherstone, M.S. 1995: Mutations in paralogous Hox genes result in overlapping homeotic transformations of the axial skeleton: evidence for unique and redundant function. Developmental Biology 169(1): 359-372
Vallen, E.A.; Cross, F.R. 1995: Mutations in RAD27 define a potential link between G1 cyclins and DNA replication. Molecular and Cellular Biology 15(8): 4291-4302
Paul, M.F.; Tzagoloff, A. 1995: Mutations in RCA1 and AFG3 inhibit F1-ATPase assembly in Saccharomyces cerevisiae. Febs Letters 373(1): 66-70
Lennon, J.C.; Wind, M.; Saunders, L.; Hock, M.B.; Reines, D. 1998: Mutations in RNA polymerase Ii and elongation factor SIi severely reduce mRNA levels in Saccharomyces cerevisiae. Molecular and Cellular Biology 18(10): 5771-5779
Van Leeuwen, F.W.; Burbach, J.P.; Hol, E.M. 1998: Mutations in RNA: a first example of molecular misreading in Alzheimer's disease. Trends in Neurosciences 21(8): 331-335
Arkov, A.L.; Freistroffer, D.V.; Ehrenberg, M.; Murgola, E.J. 1998: Mutations in RNAs of both ribosomal subunits cause defects in translation termination. EMBO Journal 17(5): 1507-1514
Jacobs, G.H.; Neitz, M.; Neitz, J. 1996: Mutations in S-cone pigment genes and the absence of colour vision in two species of nocturnal primate. Proceedings. Biological Sciences 263(1371): 705-710
Foster, J.W. 1996: Mutations in SOX9 cause both autosomal sex reversal and campomelic dysplasia. Acta Paediatrica Japonica: Overseas Edition 38(4): 405-411
Kwok, C.; Weller, P.A.; Guioli, S.; Foster, J.W.; Mansour, S.; Zuffardi, O.; Punnett, H.H.; Dominguez-Steglich, M.A.; Brook, J.D.; Young, I.D. 1995: Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. American Journal of Human Genetics 57(5): 1028-1036
Fay, D.S.; Sun, Z.; Stern, D.F. 1997: Mutations in SPK1/RAD53 that specifically abolish checkpoint but not growth-related functions. Current Genetics 31(2): 97-105
Amrani, N.; Dufour, M.E.; Bonneaud, N.; Lacroute, F. 1996: Mutations in STS1 suppress the defect in 3' mRNA processing caused by the rna15-2 mutation in Saccharomyces cerevisiae. Molecular and General Genetics: Mgg 252(5): 552-562
McKee, A.H.; Kleckner, N. 1997: Mutations in Saccharomyces cerevisiae that block meiotic prophase chromosome metabolism and confer cell cycle arrest at pachytene identify two new meiosis-specific genes SAE1 and SAE3. Genetics 146(3): 817-834
Deiwick, J.; Nikolaus, T.; Shea, J.E.; Gleeson, C.; Holden, D.W.; Hensel, M. 1998: Mutations in Salmonella pathogenicity island 2 (SPI2) genes affecting transcription of SPI1 genes and resistance to antimicrobial agents. Journal of Bacteriology 180(18): 4775-4780
Nandabalan, K.; Price, L.; Roeder, G.S. 1993: Mutations in U1 snRNA bypass the requirement for a cell type-specific RNA splicing factor. Cell 73(2): 407-415
Lesser, C.F.; Guthrie, C. 1993: Mutations in U6 snRNA that alter splice site specificity: implications for the active site. Science 262(5142): 1982-1988
Li, L.; Peterson, C.A.; Lu, X.; Legerski, R.J. 1995: Mutations in XPA that prevent association with ERCC1 are defective in nucleotide excision repair. Molecular and Cellular Biology 15(4): 1993-1998
Ivanov, E.L.; Sugawara, N.; White, C.I.; Fabre, F.; Haber, J.E. 1994: Mutations in XRS2 and RAD50 delay but do not prevent mating-type switching in Saccharomyces cerevisiae. Molecular and Cellular Biology 14(5): 3414-3425
Gibbons, R.J.; Picketts, D.J.; Villard, L.; Higgs, D.R. 1995: Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80(6): 837-845
McKimm-Breschkin, J.L.; Sahasrabudhe, A.; Blick, T.J.; McDonald, M.; Colman, P.M.; Hart, G.J.; Bethell, R.C.; Varghese, J.N. 1998: Mutations in a conserved residue in the influenza virus neuraminidase active site decreases sensitivity to Neu5Ac2en-derived inhibitors. Journal of Virology 72(3): 2456-2462
Oestreicher, N.; Scazzocchio, C.; Suárez, T. 1997: Mutations in a dispensable region of the UaY transcription factor of Aspergillus nidulans differentially affect the expression of structural genes. Molecular Microbiology 24(6): 1189-1199
Kawula, T.H.; Lelivelt, M.J. 1994: Mutations in a gene encoding a new Hsp70 suppress rapid DNA inversion and bgl activation, but not proU derepression, in hns-1 mutant Escherichia coli. Journal of Bacteriology 176(3): 610-619
Shimizu, I.; Yao, D.F.; Horie, C.; Yasuda, M.; Shiba, M.; Horie, T.; Nishikado, T.; Meng, X.Y.; Ito, S. 1997: Mutations in a hydrophilic part of the core gene of hepatitis C virus in patients with hepatocellular carcinoma in China. Journal of Gastroenterology 32(1): 47-55
Marquardt, A.; Stöhr, H.; Passmore, L.A.; Krämer, F.; Rivera, A.; Weber, B.H. 1998: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Human Molecular Genetics 7(9): 1517-1525
Rushton, E.; Drysdale, R.; Abmayr, S.M.; Michelson, A.M.; Bate, M. 1995: Mutations in a novel gene, myoblast city, provide evidence in support of the founder cell hypothesis for Drosophila muscle development. Development 121(7): 1979-1988
Maeda, T.; Tsai, A.Y.; Saito, H. 1993: Mutations in a protein tyrosine phosphatase gene (PTP2) and a protein serine/threonine phosphatase gene (PTC1) cause a synthetic growth defect in Saccharomyces cerevisiae. Molecular and Cellular Biology 13(9): 5408-5417
Chew, A.; Rollins, R.A.; Sakati, W.R.; Isaya, G. 1996: Mutations in a putative zinc-binding domain inactivate the mitochondrial intermediate peptidase. Biochemical and Biophysical Research Communications 226(3): 822-829
Kostov, R.V.; Small, C.L.; Mcfadden, B.A. 1997: Mutations in a sequence near the N-terminus of the small subunit alter the CO2/O2 specificity factor for ribulose bisphosphate carboxylase/oxygenase. Photosynthesis Research 54(2): 127-134
Srikanth, N.S.; Mudipalli, A.; Maccubbin, A.E.; Gurtoo, H.L. 1994: Mutations in a shuttle vector exposed to activated mitomycin C. Molecular Carcinogenesis 10(1): 23-29
Smith, T.A.; Kohorn, B.D. 1994: Mutations in a signal sequence for the thylakoid membrane identify multiple protein transport pathways and nuclear suppressors. Journal of cell biology 126(2): 365-374
Petersen, C.E.; Ha, C.E.; Jameson, D.M.; Bhagavan, N.V. 1996: Mutations in a specific human serum albumin thyroxine binding site define the structural basis of familial dysalbuminemic hyperthyroxinemia. Journal of Biological Chemistry 271(32): 19110-19117
Rudzki, Z.; Duncan, E.M.; Casey, G.J.; Neumann, M.; Favaloro, E.J.; Lloyd, J.V. 1996: Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. British Journal of Haematology 94(2): 400-406
Gehm, B.D.; Kuo, W.L.; Perlman, R.K.; Rosner, M.R. 1993: Mutations in a zinc-binding domain of human insulin-degrading enzyme eliminate catalytic activity but not insulin binding. Journal of Biological Chemistry 268(11): 7943-7948
Paradise, M.R.; Cook, G.; Poole, R.K.; Rather, P.N. 1998: Mutations in aarE, the ubiA homolog of Providencia stuartii, result in high-level aminoglycoside resistance and reduced expression of the chromosomal aminoglycoside 2'-N-acetyltransferase. Antimicrobial Agents and ChemoTherapy 42(4): 959-962
Pyles, R.B.; Thompson, R.L. 1994: Mutations in accessory DNA replicating functions alter the relative mutation frequency of herpes simplex virus type 1 strains in cultured murine cells. Journal of Virology 68(7): 4514-4524
Boustany, R.M.; Qian, W.H.; Suzuki, K. 1993: Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients. American Journal of Human Genetics 53(4): 881-888
Ellison, K.S.; Peng, W.; McFadden, G. 1996: Mutations in active-site residues of the uracil-DNA glycosylase encoded by vaccinia virus are incompatible with virus viability. Journal of Virology 70(11): 7965-7973
Shaw, C.E.; Enayat, Z.E.; Chioza, B.A.; Al-Chalabi, A.; Radunovic, A.; Powell, J.F.; Leigh, P.N. 1998: Mutations in all five exons of SOD-1 may cause ALS. Annals of Neurology 43(3): 390-394
Zavanelli, M.I.; Britton, J.S.; Igel, A.H.; Ares, M. 1994: Mutations in an essential U2 small nuclear RNA structure cause cold-sensitive U2 small nuclear ribonucleoprotein function by favoring competing alternative U2 RNA structures. Molecular and Cellular Biology 14(3): 1689-1697
Zakharova, N.; Bass, I.; Arsenieva, E.; Nikiforov, V.; Severinov, K. 1998: Mutations in and monoclonal antibody binding to evolutionary hypervariable region of Escherichia coli RNA polymerase beta' subunit inhibit transcript cleavage and transcript elongation. Journal of Biological Chemistry 273(38): 24912-24920
Preston, G.M.; Smith, B.L.; Zeidel, M.L.; Moulds, J.J.; Agre, P. 1994: Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels. Science 265(5178): 1585-1587
Kobayashi, K.; Shaheen, N.; Terazono, H.; Saheki, T. 1994: Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. American Journal of Human Genetics 55(6): 1103-1112
Glover, D.M.; Leibowitz, M.H.; Mclean, D.A.; Parry, H. 1995: Mutations in aurora Prevent Centrosome Separation Leading to the Formation of Monopolar Spindles. Cell 81(1): 95-105
Aspenström, P.; Schutt, C.E.; Lindberg, U.; Karlsson, R. 1993: Mutations in beta-actin: influence on polymer formation and on interactions with myosin and profilin. Febs Letters 329(1-2): 163-170
Kitaeva, M.N.; Grogan, L.; Williams, J.P.; Dimond, E.; Nakahara, K.; Hausner, P.; DeNobile, J.W.; Soballe, P.W.; Kirsch, I.R. 1997: Mutations in beta-catenin are uncommon in colorectal cancer occurring in occasional replication error-positive tumors. Cancer Research 57(20): 4478-4481
Kang, S.M.; Wakefield, J.K.; Morrow, C.D. 1996: Mutations in both the U5 region and the primer-binding site influence the selection of the tRNA used for the initiation of HIV-1 reverse transcription. Virology 222(2): 401-414
Cropp, C.S. 1995: Mutations in breast cancer. Cancer Letters 90(1): 51-56
Ando, M.; Takemura, K.; Maruyama, M.; Endo, M.; Iwama, T.; Yuasa, Y. 1992: Mutations in c-K-ras 2 gene codon 12 during colorectal tumorigenesis in familial adenomatous polyposis. Gastroenterology 103(6): 1725-1731
Yang, Y.; Ballinger, D. 1994: Mutations in calphotin, the gene encoding a Drosophila photoreceptor cell-specific calcium-binding protein, reveal roles in cellular morphogenesis and survival. Genetics 138(2): 413-421
Kodjabachian, L.; Delaage, M.; Maurel, C.; Miassod, R.; Jacq, B.; Rosset, R. 1998: Mutations in ccf, a novel Drosophila gene encoding a chromosomal factor, affect progression through mitosis and interact with Pc-G mutations. EMBO Journal 17(4): 1063-1075
Hill, S.A.; Nazir, D.J.; Jayaratne, P.; Bamford, K.S.; Mcqueen, M.J. 1997: Mutations in cholesteryl ester transfer protein and hepatic lipase in a North American population. Clinical Biochemistry 30(5): 413-418
Pérez-Martín, J.; Johnson, A.D. 1998: Mutations in chromatin components suppress a defect of Gcn5 protein in Saccharomyces cerevisiae. Molecular and Cellular Biology 18(2): 1049-1054
Olsen, B.R. 1995: Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias. Bone 17(2 Suppl): 45s-49s
Chandrika, R.; Horikami, S.M.; Smallwood, S.; Moyer, S.A. 1995: Mutations in conserved domain i of the Sendai virus L polymerase protein uncouple transcription and replication. Virology 213(2): 352-363
Rosen, D.R.; Siddique, T.; Patterson, D.; Figlewicz, D.A.; Sapp, P.; Hentati, A.; Donaldson, D.; Goto, J.; O'regan, J.P. 1993: Mutations in copper-zinc superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature (London) 362(6415): 59-62
Lyons, T.J.; Liu, H.; Goto, J.J.; Nersissian, A.; Roe, J.A.; Graden, J.A.; Café, C.; Ellerby, L.M.; Bredesen, D.E.; Gralla, E.B.; Valentine, J.S. 1996: Mutations in copper-zinc superoxide dismutase that cause amyotrophic lateral sclerosis alter the zinc binding site and the redox behavior of the protein. Proceedings of the National Academy of Sciences of the United States of America 93(22): 12240-12244
Davey, J.; Nielsen, O. 1994: Mutations in cyr1 and pat1 reveal pheromone-induced G1 arrest in the fission yeast Schizosaccharomyces pombe. Current Genetics 26(2): 105-112
Kirschner, D.A.; Saavedra, R.A. 1994: Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain. Journal of Neuroscience Research 39(1): 63-69
Croxen, R.; Newland, C.; Beeson, D.; Oosterhuis, H.; Chauplannaz, G.; Vincent, A.; Newsom-Davis, J. 1997: Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. Human Molecular Genetics 6(5): 767-774
Chen, X.J.; Curtiss, A.; Alcantara, E.; Dean, D.H. 1995: Mutations in domain I of Bacillus thuringiensis delta-endotoxin CryIAb reduce the irreversible binding of toxin to manduca sexta brush border membrane vesicles. Journal of Biological Chemistry 270(11): 6412-6419
Dam, M.; Douthwaite, S.; Tenson, T.; Mankin, A.S. 1996: Mutations in domain II of 23 S rRNA facilitate translation of a 23 S rRNA-encoded pentapeptide conferring erythromycin resistance. Journal of Molecular Biology 259(1): 1-6
Urbatsch, I.L.; Beaudet, L.; Carrier, I.; Gros, P. 1998: Mutations in either nucleotide-binding site of P-glycoprotein (Mdr3) prevent vanadate trapping of nucleotide at both sites. Biochemistry 37(13): 4592-4602
Chernoff, Y.O.; Vincent, A.; Liebman, S.W. 1994: Mutations in eukaryotic 18S ribosomal RNA affect translational fidelity and resistance to aminoglycoside antibiotics. EMBO Journal 13(4): 906-913
Shen, J.; Bao, Y.; Liu, H.M.; Lee, P.; Leonard, J.V.; Chen, Y.T. 1996: Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. Journal of Clinical Investigation 98(2): 352-357
Wilson, D.E.; Hata, A.; Kwong, L.K.; Lingam, A.; Shuhua, J.; Ridinger, D.N.; Yeager, C.; Kaltenborn, K.C.; Iverius, P.H.; Lalouel, J.M. 1993: Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes. Journal of Clinical Investigation 92(1): 203-211
Roy, A.M.; Coleman, J. 1994: Mutations in firA, encoding the second acyltransferase in lipopolysaccharide biosynthesis, affect multiple steps in lipopolysaccharide biosynthesis. Journal of Bacteriology 176(6): 1639-1646
Matsusaka, T.; Imamoto, N.; Yoneda, Y.; Yanagida, M. 1998: Mutations in fission yeast Cut15, an importin alpha homolog, lead to mitotic progression without chromosome condensation. Current Biology: Cb 8(18): 1031-1034
Jørgensen, M.U.; Bruun, M.B.; Didion, T.; Kielland-Brandt, M.C. 1998: Mutations in five loci affecting GAP1-independent uptake of neutral amino acids in yeast. Yeast 14(2): 103-114
Dai, K.; Mukherjee, A.; Xu, Y.; Lutkenhaus, J. 1994: Mutations in ftsZ that confer resistance to SulA affect the interaction of FtsZ with GTP. Journal of Bacteriology 176(1): 130-136
Jamet-Vierny, C.; Contamine, V.; Boulay, J.; Zickler, D.; Picard, M. 1997: Mutations in genes encoding the mitochondrial outer membrane proteins Tom70 and Mdm10 of Podospora anserina modify the spectrum of mitochondrial DNA rearrangements associated with cellular death. Molecular and Cellular Biology 17(11): 6359-6366
Kamiya, Y.; Harada, S.; Yamamoto, H.; Hosono, R. 1992: Mutations in genes for acetylcholinesterase intensify lethality by acrylamide in Caenorhabditis elegans. Neuroscience Letters 145(1): 37-39
Jones, A.R.; Schedl, T. 1995: Mutations in gld-1, a female germ cell-specific tumor suppressor gene in Caenorhabditis elegans, affect a conserved domain also found in Src-associated protein Sam68. Genes and Development 9(12): 1491-1504
Schwaab, R.; Oldenburg, J.; Tuddenham, E.G.; Brackmann, H.H.; Olek, K. 1993: Mutations in haemophilia A. British Journal of Haematology 83(3): 450-458
Moine, H.; Dahlberg, A.E. 1994: Mutations in helix 34 of Escherichia coli 16 S ribosomal RNA have multiple effects on ribosome function and synthesis. Journal of Molecular Biology 243(3): 402-412
Beards, F.; Frayling, T.; Bulman, M.; Horikawa, Y.; Allen, L.; Appleton, M.; Bell, G.I.; Ellard, S.; Hattersley, A.T. 1998: Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 47(7): 1152-1154
Desai, P.; DeLuca, N.A.; Glorioso, J.C.; Person, S. 1993: Mutations in herpes simplex virus type 1 genes encoding VP5 and VP23 abrogate capsid formation and cleavage of replicated DNA. Journal of Virology 67(3): 1357-1364
Fleury, S.; Huang, B.; Zerbib, A.; Croteau, G.; Long, E.O.; Sekaly, R.P. 1996: Mutations in human CD4 impair the functional interaction with different human and mouse class Ii isotypes and alleles. Journal of Immunology 156(5): 1848-1855
Crone, T.M.; Goodtzova, K.; Edara, S.; Pegg, A.E. 1994: Mutations in human O6-alkylguanine-DNA alkyltransferase imparting resistance to O6-benzylguanine. Cancer Research 54(23): 6221-6227
Wolf, D.G.; Smith, I.L.; Lee, D.J.; Freeman, W.R.; Flores-Aguilar, M.; Spector, S.A. 1995: Mutations in human cytomegalovirus UL97 gene confer clinical resistance to ganciclovir and can be detected directly in patient plasma. Journal of Clinical Investigation 95(1): 257-263
Van Der Bliek, A.M.; Redelmeier, T.E.; Damke, H.; Tisdale, E.J.; Meyerowitz, E.M.; Schmid, S.L. 1993: Mutations in human dynamin block an intermediate stage in coated vesicle formation. Journal of Cell Biology 122(3): 553-563
Back, N.K.; Smit, L.; Schutten, M.; Nara, P.L.; Tersmette, M.; Goudsmit, J. 1993: Mutations in human immunodeficiency virus type 1 gp41 affect sensitivity to neutralization by gp120 antibodies. Journal of Virology 67(11): 6897-6902
Pretorius, G.S.; van Helden, P.D.; Sirgel, F.; Eisenach, K.D.; Victor, T.C. 1995: Mutations in katG gene sequences in isoniazid-resistant clinical isolates of Mycobacterium tuberculosis are rare. Antimicrobial Agents and ChemoTherapy 39(10): 2276-2281
Shephard, S.E.; Sengstag, C.; Lutz, W.K.; Schlatter, C. 1993: Mutations in liver DNA of lacI transgenic mice (Big Blue) following subchronic exposure to 2-acetylaminofluorene. Mutation Research 302(2): 91-96
Buescher, M.; Chia, W. 1997: Mutations in lottchen cause cell fate transformations in both neuroblast and glioblast lineages in the Drosophila embryonic central nervous system. Development 124(3): 673-681
Murugasu-Oei, B.; Balakrishnan, R.; Yang, X.; Chia, W.; Rodrigues, V. 1996: Mutations in masquerade, a novel serine-protease-like molecule, affect axonal guidance and taste behavior in Drosophila. Mechanisms of Development 57(1): 91-101
Nakayama, A.; Nguyen, M.T.; Chen, C.C.; Opdecamp, K.; Hodgkinson, C.A.; Arnheiter, H. 1998: Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. Mechanisms of Development 70(1-2): 155-166
Liu, V.W.; Zhang, C.; Nagley, P. 1998: Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing. Nucleic Acids Research 26(5): 1268-1275
Davis, R.E.; Miller, S.; Herrnstadt, C.; Ghosh, S.S.; Fahy, E.; Shinobu, L.A.; Galasko, D.; Thal, L.J.; Beal, M.F.; Howell, N.; Parker, W.D. 1997: Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease. Proceedings of the National Academy of Sciences of the United States of America 94(9): 4526-4531
Folgerø, T.; Storbakk, N.; Torbergsen, T.; Oian, P. 1996: Mutations in mitochondrial transfer ribonucleic acid genes in preeclampsia. American Journal of Obstetrics and Gynecology 174(5): 1626-1630
Garza, A.G.; Biran, R.; Wohlschlegel, J.A.; Manson, M.D. 1996: Mutations in motB suppressible by changes in stator or rotor components of the bacterial flagellar motor. Journal of Molecular Biology 258(2): 270-285
Brosh, R.M.; Matson, S.W. 1995: Mutations in motif II of Escherichia coli DNA helicase II render the enzyme nonfunctional in both mismatch repair and excision repair with differential effects on the unwinding reaction. Journal of Bacteriology 177(19): 5612-5621
Qu, S.; Tucker, S.C.; Ehrlich, J.S.; Levorse, J.M.; Flaherty, L.A.; Wisdom, R.; Vogt, T.F. 1998: Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly. Development 125(14): 2711-2721
Garber, E.A.; Hreniuk, D.L.; Scheidel, L.M.; van der Ploeg, L.H. 1993: Mutations in murine Mx1: effects on localization and antiviral activity. Virology 194(2): 715-723
Raben, N.; Sherman, J.B. 1995: Mutations in muscle phosphofructokinase gene. Human Mutation 6(1): 1-6
Ledley, F.D.; Rosenblatt, D.S. 1997: Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. Human Mutation 9(1): 1-6
White-Cooper, H.; Carmena, M.; Gonzalez, C.; Glover, D.M. 1996: Mutations in new cell cycle genes that fail to complement a multiply mutant third chromosome of Drosophila. Genetics 144(3): 1097-1111
Kadowaki, T.; Schneiter, R.; Hitomi, M.; Tartakoff, A.M. 1995: Mutations in nucleolar proteins lead to nucleolar accumulation of polyA+ RNA in Saccharomyces cerevisiae. Molecular Biology of the Cell 6(9): 1103-1110
Yewdell, J.W.; Taylor, A.; Yellen, A.; Caton, A.; Gerhard, W.; Bächi, T. 1993: Mutations in or near the fusion peptide of the influenza virus hemagglutinin affect an antigenic site in the globular region. Journal of Virology 67(2): 933-942
Jerry, D.J.; Ozbun, M.A.; Kittrell, F.S.; Lane, D.P.; Medina, D.; Butel, J.S. 1993: Mutations in p53 are frequent in the preneoplastic stage of mouse mammary tumor development. Cancer Research 53(14): 3374-3381
Legros, Y.; Meyer, A.; Ory, K.; Soussi, T. 1994: Mutations in p53 produce a common conformational effect that can be detected with a panel of monoclonal antibodies directed toward the central part of the p53 protein. Oncogene 9(12): 3689-3694
Buchbinder, J.L.; Guinovart, J.J.; Fletterick, R.J. 1995: Mutations in paired alpha-helices at the subunit interface of glycogen phosphorylase alter homotropic and heterotropic cooperativity. Biochemistry 34(19): 6423-6432
Hartmann, A.; Boos, W. 1993: Mutations in phoB, the positive gene activator of the pho regulon in Escherichia coli, affect the carbohydrate phenotype on MacConkey indicator plates. Research in Microbiology 144(4): 285-293
Frisby, D.; Zuber, P. 1994: Mutations in pts cause catabolite-resistant sporulation and altered regulation of spo0H in Bacillus subtilis. Journal of Bacteriology 176(9): 2587-2595
Nishigori, C.; Wang, S.; Miyakoshi, J.; Sato, M.; Tsukada, T.; Yagi, T.; Imamura, S.; Takebe, H. 1994: Mutations in ras genes in cells cultured from mouse skin tumors induced by ultraviolet irradiation. Proceedings of the National Academy of Sciences of the United States of America 91(15): 7189-7193
Khan, S.G.; Mohan, R.R.; Katiyar, S.K.; Wood, G.S.; Bickers, D.R.; Mukhtar, H.; Agarwal, R. 1996: Mutations in ras oncogenes: rare events in ultraviolet B radiation-induced mouse skin tumorigenesis. Molecular Carcinogenesis 15(2): 96-103
Baer, G.S.; Dermody, T.S. 1997: Mutations in reovirus outer-capsid protein sigma3 selected during persistent infections of L cells confer resistance to protease inhibitor E64. Journal of Virology 71(7): 4921-4928
Ngo-Giang-Huong, N.; Kayibanda, M.; Deprez, B.; Levy, J.P.; Guillet, J.G.; Tilkin, A.F. 1995: Mutations in residue 61 of H-Ras p21 protein influence MHC class II presentation. International Immunology 7(2): 269-275
Ekwall, K.; Ruusala, T. 1994: Mutations in rik1, clr2, clr3 and clr4 genes asymmetrically derepress the silent mating-type loci in fission yeast. Genetics 136(1): 53-64
Zhang, M.; Zeng, C.Q.; Dong, Y.; Ball, J.M.; Saif, L.J.; Morris, A.P.; Estes, M.K. 1998: Mutations in rotavirus nonstructural glycoprotein NSP4 are associated with altered virus virulence. Journal of Virology 72(5): 3666-3672
Enos-Berlage, J.L.; Downs, D.M. 1997: Mutations in sdh (succinate dehydrogenase genes) alter the thiamine requirement of Salmonella typhimurium. Journal of Bacteriology 179(12): 3989-3996
Eikenboom, J.C.; Ploos van Amstel, H.K.; Reitsma, P.H.; Briët, E. 1992: Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA. Thrombosis and Haemostasis 68(4): 448-454
Phelan, P.; Nakagawa, M.; Wilkin, M.B.; Moffat, K.G.; O'Kane, C.J.; Davies, J.A.; Bacon, J.P. 1996: Mutations in shaking-B prevent electrical synapse formation in the Drosophila giant fiber system. Journal of Neuroscience: the Official Journal of the Society for Neuroscience 16(3): 1101-1113
Aiyar, S.E.; Juang, Y.L.; Helmann, J.D.; Dehaseth, P.L. 1994: Mutations in sigma factor that affect the temperature dependence of transcription from a promoter, but not from a mismatch bubble in double-stranded DNA. Biochemistry 33(38): 11501-11506
McKeon, J.; Slade, E.; Sinclair, D.A.; Cheng, N.; Couling, M.; Brock, H.W. 1994: Mutations in some Polycomb group genes of Drosophila interfere with regulation of segmentation genes. Molecular and General Genetics: Mgg 244(5): 474-483
White, P.C.; Tusie-Luna, M.T.; New, M.I.; Speiser, P.W. 1994: Mutations in steroid 21-hydroxylase (CYP21). Human Mutation 3(4): 373-378
Majander, A.; Lamminen, T.; Juvonen, V.; Aula, P.; Nikoskelainen, E.; Savontaus, M.L.; Wikström, M. 1997: Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases. Febs Letters 412(2): 351-354
Ha, N.; Hellauer, K.; Turcotte, B. 1996: Mutations in target DNA elements of yeast HAP1 modulate its transcriptional activity without affecting DNA binding. Nucleic Acids Research 24(8): 1453-1459
He, J.W.; Lu, Q.; Zhu, Q.R.; Duan, S.C.; Wen, Y.M. 1998: Mutations in the 'a' determinant of hepatitis B surface antigen among Chinese infants receiving active postexposure hepatitis B immunization. Vaccine 16(2-3): 170-173
Jurutka, P.W.; Hsieh, J.C.; Remus, L.S.; Whitfield, G.K.; Thompson, P.D.; Haussler, C.A.; Blanco, J.C.; Ozato, K.; Haussler, M.R. 1997: Mutations in the 1,25-dihydroxyvitamin D3 receptor identifying C-terminal amino acids required for transcriptional activation that are functionally dissociated from hormone binding, heterodimeric DNA binding, and interaction with basal transcription factor IIB, in vitro. Journal of Biological Chemistry 272(23): 14592-14599
Gopal, V.; Chatterji, D. 1997: Mutations in the 1.1 subdomain of Escherichia coli sigma factor sigma70 and disruption of its overall structure. European Journal of Biochemistry 244(2): 613-618
Rothnagel, J.A.; Wojcik, S.; Liefer, K.M.; Dominey, A.M.; Huber, M.; Hohl, D.; Roop, D.R. 1995: Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. Journal of Investigative Dermatology 104(3): 430-433
Morace, G.; Pisani, G.; Beneduce, F.; Divizia, M.; Panà, A. 1993: Mutations in the 3A genomic region of two cytopathic strains of hepatitis A virus isolated in Italy. Virus Research 28(2): 187-194
Wang, K.; Pesnicak, L.; Straus, S.E. 1997: Mutations in the 5' end of the herpes simplex virus type 2 latency-associated transcript (LAT) promoter affect LAT expression in vivo but not the rate of spontaneous reactivation of genital herpes. Journal of Virology 71(10): 7903-7910
Magagnoli, C.; Manetti, R.; Fontana, M.R.; Giannelli, V.; Giuliani, M.M.; Rappuoli, R.; Pizza, M. 1996: Mutations in the A subunit affect yield, stability, and protease sensitivity of nontoxic derivatives of heat-labile enterotoxin. Infection and Immunity 64(12): 5434-5438
Crone, T.M.; Kanugula, S.; Pegg, A.E. 1995: Mutations in the Ada O6-alkylguanine-DNA alkyltransferase conferring sensitivity to inactivation by O6-benzylguanine and 2,4-diamino-6-benzyloxy-5-nitrosopyrimidine. Carcinogenesis 16(8): 1687-1692
O'Dea, M.H.; Tamura, J.K.; Gellert, M. 1996: Mutations in the B subunit of Escherichia coli DNA gyrase that affect ATP-dependent reactions. Journal of Biological Chemistry 271(16): 9723-9729
Jarrett, J.T.; Amaratunga, M.; Drennan, C.L.; Scholten, J.D.; Sands, R.H.; Ludwig, M.L.; Matthews, R.G. 1996: Mutations in the B12-binding region of methionine synthase: how the protein controls methylcobalamin reactivity. Biochemistry 35(7): 2464-2475
Jarnagin, K.; Bhakta, S.; Zuppan, P.; Yee, C.; Ho, T.; Phan, T.; Tahilramani, R.; Pease, J.H.; Miller, A.; Freedman, R. 1996: Mutations in the B2 bradykinin receptor reveal a different pattern of contacts for peptidic agonists and peptidic antagonists. Journal of Biological Chemistry 271(45): 28277-28286
Milner, S.J.; Francis, G.L.; Wallace, J.C.; Magee, B.A.; Ballard, F.J. 1995: Mutations in the B-domain of insulin-like growth factor-I influence the oxidative folding to yield products with modified biological properties. Biochemical Journal 308: 865-871
Katagiri, T.; Emi, M.; Ito, I.; Kobayashi, K.; Yoshimoto, M.; Iwase, T.; Kasumi, F.; Miki, Y.; Skolnick, M.H.; Nakamura, Y. 1996: Mutations in the BRCA1 gene in Japanese breast cancer patients. Human Mutation 7(4): 334-339
Thai, T.H.; Du, F.; Tsan, J.T.; Jin, Y.; Phung, A.; Spillman, M.A.; Massa, H.F.; Muller, C.Y.; Ashfaq, R.; Mathis, J.M.; Miller, D.S.; Trask, B.J.; Baer, R.; Bowcock, A.M. 1998: Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. Human Molecular Genetics 7(2): 195-202
Katagiri, T.; Nakamura, Y.; Miki, Y. 1996: Mutations in the BRCA2 gene in hepatocellular carcinomas. Cancer Research 56(20): 4575-4577
Goyard, S.; Bellalou, J.; Mireau, H.; Ullmann, A. 1994: Mutations in the Bordetella pertussis bvgS gene that confer altered expression of the fhaB gene in Escherichia coli. Journal of Bacteriology 176(16): 5163-5166
Roessler, E.; Belloni, E.; Gaudenz, K.; Vargas, F.; Scherer, S.W.; Tsui, L.C.; Muenke, M. 1997: Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Human Molecular Genetics 6(11): 1847-1853
Burkholder, W.F.; Zhao, X.; Zhu, X.; Hendrickson, W.A.; Gragerov, A.; Gottesman, M.E. 1996: Mutations in the C-terminal fragment of DnaK affecting peptide binding. Proceedings of the National Academy of Sciences of the United States of America 93(20): 10632-10637
Davis, A.E.; Bissler, J.J.; Cicardi, M. 1993: Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. Behring Institute Mitteilungen 1993(93): 313-320
Kumar, R.; Lundh Rozell, B.; Louhelainen, J.; Hemminki, K. 1998: Mutations in the CDKN2A (p16INK4a) gene in microdissected sporadic primary melanomas. International Journal of Cancer 75(2): 193-198
Smith, L.T.; Schwarze, U.; Goldstein, J.; Byers, P.H. 1997: Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. Journal of Investigative Dermatology 108(3): 241-247
De Paepe, A.; Nuytinck, L.; Hausser, I.; Anton-Lamprecht, I.; Naeyaert, J.M. 1997: Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. American Journal of Human Genetics 60(3): 547-554
Curnow, K.M.; Slutsker, L.; Vitek, J.; Cole, T.; Speiser, P.W.; New, M.I.; White, P.C.; Pascoe, L. 1993: Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proceedings of the National Academy of Sciences of the United States of America 90(10): 4552-4556
Oluwatosin, Y.E.; Kane, P.M. 1997: Mutations in the CYS4 gene provide evidence for regulation of the yeast vacuolar H+-ATPase by oxidation and reduction in vivo. Journal of Biological Chemistry 272(44): 28149-28157
Baron, J.; Winer, K.K.; Yanovski, J.A.; Cunningham, A.W.; Laue, L.; Zimmerman, D.; Cutler, G.B. 1996: Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Human Molecular Genetics 5(5): 601-606
Doyle, J.; Ren, X.; Lennon, G.; Stubbs, L. 1997: Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice. Mammalian Genome: Official Journal of the International Mammalian Genome Society 8(2): 113-120
Davis, M.W.; Somerville, D.; Lee, R.Y.; Lockery, S.; Avery, L.; Fambrough, D.M. 1995: Mutations in the Caenorhabditis elegans Na,K-ATPase alpha-subunit gene, eat-6, disrupt excitable cell function. Journal of Neuroscience: the Official Journal of the Society for Neuroscience 15(12): 8408-8418
Savage, C.; Xue, Y.; Mitani, S.; Hall, D.; Zakhary, R.; Chalfie, M. 1994: Mutations in the Caenorhabditis elegans beta-tubulin gene mec-7: effects on microtubule assembly and stability and on tubulin autoregulation. Journal of Cell Science 107: 2165-2175
Chamberlin, H.M.; Sternberg, P.W. 1995: Mutations in the Caenorhabditis elegans gene vab-3 reveal distinct roles in fate specification and unequal cytokinesis in an asymmetric cell division. Developmental Biology 170(2): 679-689
Karim, M.A.; Nagle, D.L.; Kandil, H.H.; Bürger, J.; Moore, K.J.; Spritz, R.A. 1997: Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Human Molecular Genetics 6(7): 1087-1089
Ankri, S.; Serebrijski, I.; Reyes, O.; Leblon, G. 1996: Mutations in the Corynebacterium glutamicum proline biosynthetic pathway: a natural bypass of th proA step. Journal of Bacteriology 178(15): 4412-4419
Perewoska, I.; Vernotte, C.; Picaud, M.; Astier, C. 1992: Mutations in the D-1 subunit of photosystem II and resistance to the phenol type herbicide ioxynil in Synechocystis PCC 6714 and 6803. Zietschrift fuer Naturforschung Section C Journal of Biosciences 47(7-8): 580-584
Geraghty, M.T.; Vaughn, D.; Nicholson, A.J.; Lin, W.W.; Jimenez-Sanchez, G.; Obie, C.; Flynn, M.P.; Valle, D.; Hu, C.A. 1998: Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Human Molecular Genetics 7(9): 1411-1415
Fitzky, B.U.; Witsch-Baumgartner, M.; Erdel, M.; Lee, J.N.; Paik, Y.K.; Glossmann, H.; Utermann, G.; Moebius, F.F. 1998: Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. Proceedings of the National Academy of Sciences of the United States of America 95(14): 8181-8186
Hrdlicková, R.; Nehyba, J.; Bose, H.R. 1995: Mutations in the DNA-binding and dimerization domains of v-Rel are responsible for altered kappa B DNA-binding complexes in transformed cells. Journal of Virology 69(6): 3369-3380
Dini, P.W.; Eltman, J.T.; Lipsick, J.S. 1995: Mutations in the DNA-binding and transcriptional activation domains of v-Myb cooperate in transformation. Journal of Virology 69(4): 2515-2524
Rittenhouse, K.R.; Berg, C.A. 1995: Mutations in the Drosophila gene bullwinkle cause the formation of abnormal eggshell structures and bicaudal embryos. Development 121(9): 3023-3033
Stewart, M.J.; Denell, R. 1993: Mutations in the Drosophila gene encoding ribosomal protein S6 cause tissue overgrowth. Molecular and Cellular Biology 13(4): 2524-2535
Krämer, H.; Phistry, M. 1996: Mutations in the Drosophila hook gene inhibit endocytosis of the boss transmembrane ligand into multivesicular bodies. Journal of Cell Biology 133(6): 1205-1215
Hall, S.G.; Bieber, A.J. 1997: Mutations in the Drosophila neuroglian cell adhesion molecule affect motor neuron pathfinding and peripheral nervous system patterning. Journal of Neurobiology 32(3): 325-340
Richards, S.; Hillman, T.; Stern, M. 1996: Mutations in the Drosophila pushover gene confer increased neuronal excitability and spontaneous synaptic vesicle fusion. Genetics 142(4): 1215-1223
Bernatchez, G.; Talwar, D.; Parent, L. 1998: Mutations in the EF-hand motif impair the inactivation of barium currents of the cardiac alpha1C channel. Biophysical Journal 75(4): 1727-1739
Nichols, W.C.; Seligsohn, U.; Zivelin, A.; Terry, V.H.; Hertel, C.E.; Wheatley, M.A.; Moussalli, M.J.; Hauri, H.P.; Ciavarella, N.; Kaufman, R.J.; Ginsburg, D. 1998: Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 93(1): 61-70
Wuyts, W.; Van Hul, W.; De Boulle, K.; Hendrickx, J.; Bakker, E.; Vanhoenacker, F.; Mollica, F.; Lüdecke, H.J.; Sayli, B.S.; Pazzaglia, U.E.; Mortier, G.; Hamel, B.; Conrad, E.U.; Matsushita, M.; Raskind, W.H.; Willems, P.J. 1998: Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. American Journal of Human Genetics 62(2): 346-354
Sandvej, K.; Munch, M.; Hamilton-Dutoit, S. 1996: Mutations in the Epstein-Barr virus latent membrane protein-1 (BNLF-1) gene in spontaneous lymphoblastoid cell lines: effect on in vitro transformation associated parameters and tumorigenicity in SCID and nude mice. Clinical Molecular Pathology 49(5): M290-M297
Skokotas, A.; Hiasa, H.; Marians, K.J.; O'Donnell, L.; Hill, T.M. 1995: Mutations in the Escherichia coli Tus protein define a domain positioned close to the DNA in the Tus-Ter complex. Journal of Biological Chemistry 270(52): 30941-30948
Visick, J.E.; Ichikawa, J.K.; Clarke, S. 1998: Mutations in the Escherichia coli surE gene increase isoaspartyl accumulation in a strain lacking the pcm repair methyltransferase but suppress stress-survival phenotypes. Fems Microbiology Letters 167(1): 19-25
Xu, H.; Gutmann, D.H. 1997: Mutations in the GAP-related domain impair the ability of neurofibromin to associate with microtubules. Brain Research 759(1): 149-152
Thöny, B.; Blau, N. 1997: Mutations in the GTP cyclohydrolase i and 6-pyruvoyl-tetrahydropterin synthase genes. Human Mutation 10(1): 11-20
Yang, J.M.; Chipev, C.C.; DiGiovanna, J.J.; Bale, S.J.; Marekov, L.N.; Steinert, P.M.; Compton, J.G. 1994: Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. Journal of Investigative Dermatology 102(1): 17-23
Topping, J.F.; May, V.J.; Muskett, P.R.; Lindsey, K. 1997: Mutations in the HYDRA1 gene of Arabidopsis perturb cell shape and disrupt embryonic and seedling morphogenesis. Development 124(21): 4415-4424
Gadde, D.M.; McCammon, M.T. 1997: Mutations in the IDH2 gene encoding the catalytic subunit of the yeast NAD+-dependent isocitrate dehydrogenase can be suppressed by mutations in the CIT1 gene encoding citrate synthase and other genes of oxidative metabolism. Archives of Biochemistry and Biophysics 344(1): 139-149
Heginbotham, L.; Lu, Z.; Abramson, T.; MacKinnon, R. 1994: Mutations in the K+ channel signature sequence. Biophysical Journal 66(4): 1061-1067
Tamamizu, S.; Todd, A.P.; McNamee, M.G. 1995: Mutations in the M1 region of the nicotinic acetylcholine receptor alter the sensitivity to inhibition by quinacrine. Cellular and Molecular Neurobiology 15(4): 427-438
Lee, Y.H.; Li, L.; Lasalde, J.; Rojas, L.; McNamee, M.; Ortiz-Miranda, S.I.; Pappone, P. 1994: Mutations in the M4 domain of Torpedo californica acetylcholine receptor dramatically alter ion channel function. Biophysical Journal 66(3 Pt 1): 646-653
Ortiz-Miranda, S.I.; Lasalde, J.A.; Pappone, P.A.; McNamee, M.G. 1997: Mutations in the M4 domain of the Torpedo californica nicotinic acetylcholine receptor alter channel opening and closing. Journal of Membrane Biology 158(1): 17-30
de Vree, J.M.; Jacquemin, E.; Sturm, E.; Cresteil, D.; Bosma, P.J.; Aten, J.; Deleuze, J.F.; Desrochers, M.; Burdelski, M.; Bernard, O.; Oude Elferink, R.P.; Hadchouel, M. 1998: Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proceedings of the National Academy of Sciences of the United States of America 95(1): 282-287
Tan, J.; Dunn, J.; Jaeken, J.; Schachter, H. 1996: Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. American Journal of Human Genetics 59(4): 810-817
Borot, N.; Roth, M.; Malfroy, L.; Demangel, C.; Vinel, J.P.; Pascal, J.P.; Coppin, H. 1997: Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 45(5): 320-324
Ohta, K.; Nicolas, A.; Furuse, M.; Nabetani, A.; Ogawa, H.; Shibata, T. 1998: Mutations in the MRE11, RAD50, XRS2, and MRE2 genes alter chromatin configuration at meiotic DNA double-stranded break sites in premeiotic and meiotic cells. Proceedings of the National Academy of Sciences of the United States of America 95(2): 646-651
Strand, M.; Earley, M.C.; Crouse, G.F.; Petes, T.D. 1995: Mutations in the MSH3 gene preferentially lead to deletions within tracts of simple repetitive DNA in Saccharomyces cerevisiae. Proceedings of the National Academy of Sciences of the United States of America 92(22): 10418-10421
Ikegawa, S.; Nakamura, K.; Nagano, A.; Haga, N.; Nakamura, Y. 1997: Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. Human Mutation 9(2): 131-135
Yuan, X.; Yu, X.; Lee, T.H.; Essex, M. 1993: Mutations in the N-terminal region of human immunodeficiency virus type 1 matrix protein block intracellular transport of the Gag precursor. Journal of Virology 67(11): 6387-6394
Naranda, T.; Sirangelo, I.; Fabbri, B.J.; Hershey, J.W. 1995: Mutations in the NKXD consensus element indicate that GTP binds to the gamma-subunit of translation initiation factor eIF2. Febs Letters 372(2-3): 249-252
Hofgärtner, W.T.; Polyak, S.J.; Sullivan, D.G.; Carithers, R.L.; Gretch, D.R. 1997: Mutations in the NS5A gene of hepatitis C virus in North American patients infected with HCV genotype 1a or 1b. Journal of Medical Virology 53(2): 118-126
Jindal, H.K.; Yong, C.B.; Wilson, G.M.; Tam, P.; Astell, C.R. 1994: Mutations in the NTP-binding motif of minute virus of mice (MVM) NS-1 protein uncouple ATPase and DNA helicase functions. Journal of Biological Chemistry 269(5): 3283-3289
Schuback, D.E.; Chen, Z.Y.; Craig, I.W.; Breakefield, X.O.; Sims, K.B. 1995: Mutations in the Norrie disease gene. Human Mutation 5(4): 285-292
Tytgat, J. 1994: Mutations in the P-region of a mammalian potassium channel (RCK1): a comparison with the Shaker potassium channel. Biochemical and Biophysical Research Communications 203(1): 513-518
Gaidano, G.; Guerrasio, A.; Serra, A.; Carozzi, F.; Cambrin, G.R.; Petroni, D.; Saglio, G. 1993: Mutations in the P53 and RAS family genes are associated with tumor progression of BCR/ABL negative chronic myeloproliferative disorders. Leukemia 7(7): 946-953
Titorenko, V.I.; Eitzen, G.A.; Rachubinski, R.A. 1996: Mutations in the PAY5 gene of the yeast Yarrowia lipolytica cause the accumulation of multiple subpopulations of peroxisomes. Journal of Biological Chemistry 271(34): 20307-20314
Danciger, M.; Blaney, J.; Gao, Y.Q.; Zhao, D.Y.; Heckenlively, J.R.; Jacobson, S.G.; Farber, D.B. 1995: Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. Genomics 30(1): 1-7
Running, M.P.; Meyerowitz, E.M. 1996: Mutations in the PERIANTHIA gene of Arabidopsis specifically alter floral organ number and initiation pattern. Development 122(4): 1261-1269
Nafa, K.; Mason, P.J.; Hillmen, P.; Luzzatto, L.; Bessler, M. 1995: Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type. Blood 86(12): 4650-4655
Bessler, M.; Mason, P.J.; Hillmen, P.; Luzzatto, L. 1994: Mutations in the PIG-A gene causing partial deficiency of GPI-linked surface proteins (PNH II) in patients with paroxysmal nocturnal haemoglobinuria. British Journal of Haematology 87(4): 863-866
Ohta, K.; Nobukuni, Y.; Mitsubuchi, H.; Fujimoto, S.; Matsuo, N.; Inagaki, H.; Endo, F.; Matsuda, I. 1992: Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. Biochemical and Biophysical Research Communications 189(2): 851-855
Richard, I.; Broux, O.; Allamand, V.; Fougerousse, F.; Chiannilkulchai, N.; Bourg, N.; Brenguier, L.; Devaud, C.; Pasturaud, P.; Roudaut, C. 1995: Mutations in the Proteolytic Enzyme Calpain 3 Cause Limb-Girdle Muscular Dystrophy Type 2A. Cell 81(1): 27-40
Lakomek, M.; Huppke, P.; Neubauer, B.; Pekrun, A.; Winkler, H.; Schröter, W. 1994: Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency. Annals of Hematology 69(5): 253-260
Eng, C.; Crossey, P.A.; Mulligan, L.M.; Healey, C.S.; Houghton, C.; Prowse, A.; Chew, S.L.; Dahia, P.L.; O'Riordan, J.L.; Toledo, S.P. 1995: Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. Journal of Medical Genetics 32(12): 934-937
Donis-Keller, H.; Dou, S.; Chi, D.; Carlson, K.M.; Toshima, K.; Lairmore, T.C.; Howe, J.R.; Moley, J.F.; Goodfellow, P.; Wells, S.A. 1993: Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Human Molecular Genetics 2(7): 851-856
Derst, C.; Konrad, M.; Köckerling, A.; Károlyi, L.; Deschenes, G.; Daut, J.; Karschin, A.; Seyberth, H.W. 1997: Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. Biochemical and Biophysical Research Communications 230(3): 641-645
Morimura, H.; Fishman, G.A.; Grover, S.A.; Fulton, A.B.; Berson, E.L.; Dryja, T.P. 1998: Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. Proceedings of the National Academy of Sciences of the United States of America 95(6): 3088-3093
Neubauer, A.; Greenberg, P.; Negrin, R.; Ginzton, N.; Liu, E. 1994: Mutations in the ras proto-oncogenes in patients with myelodysplastic syndromes. Leukemia 8(4): 638-641
Saha, S.; Rao, D.N. 1997: Mutations in the Res subunit of the EcoPi restriction enzyme that affect ATP-dependent reactions. Journal of Molecular Biology 269(3): 342-354
Jung, V.; Chen, L.; Hofmann, S.L.; Wigler, M.; Powers, S. 1995: Mutations in the SHR5 gene of Saccharomyces cerevisiae suppress Ras function and block membrane attachment and palmitoylation of Ras proteins. Molecular and Cellular Biology 15(3): 1333-1342
Pras, E.; Raben, N.; Golomb, E.; Arber, N.; Aksentijevich, I.; Schapiro, J.M.; Harel, D.; Katz, G.; Liberman, U.; Pras, M. 1995: Mutations in the SLC3A1 transporter gene in cystinuria. American Journal of Human Genetics 56(6): 1297-1303
Howe, J.R.; Roth, S.; Ringold, J.C.; Summers, R.W.; Järvinen, H.J.; Sistonen, P.; Tomlinson, I.P.; Houlston, R.S.; Bevan, S.; Mitros, F.A.; Stone, E.M.; Aaltonen, L.A. 1998: Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280(5366): 1086-1088
Compagnone-Post, P.A.; Osley, M.A. 1996: Mutations in the SPT4, SPT5, and SPT6 genes alter transcription of a subset of histone genes in Saccharomyces cerevisiae. Genetics 143(4): 1543-1554
Porter, M.E.; Knott, J.A.; Gardner, L.C.; Mitchell, D.R.; Dutcher, S.K. 1994: Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the beta-dynein heavy chain. Journal of Cell Biology 126(6): 1495-1507
Halbrook, J.; Hoekstra, M.F. 1994: Mutations in the Saccharomyces cerevisiae CDC1 gene affect double-strand-break-induced intrachromosomal recombination. Molecular and Cellular Biology 14(12): 8037-8050
Evans, D.R.; Stark, M.J. 1997: Mutations in the Saccharomyces cerevisiae type 2A protein phosphatase catalytic subunit reveal roles in cell wall integrity, actin cytoskeleton organization and mitosis. Genetics 145(2): 227-241
van Bakel, I.; Sepp, T.; Ward, S.; Yates, J.R.; Green, A.J. 1997: Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT). Human Molecular Genetics 6(9): 1409-1414
Campbell, T.B.; Cech, T.R. 1996: Mutations in the Tetrahymena ribozyme internal guide sequence: effects on docking of the P1 helix into the catalytic core and correlation with catalytic activity. Biochemistry 35(35): 11493-11502
Marsh, K.L.; Dixon, J.; Dixon, M.J. 1998: Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. Human Molecular Genetics 7(11): 1795-1800
Orlinsky, K.J.; Gu, J.; Hoyt, M.; Sandmeyer, S.; Menees, T.M. 1996: Mutations in the Ty3 major homology region affect multiple steps in Ty3 retrotransposition. Journal of Virology 70(6): 3440-3448
Moyal, M.; Berkowitz, C.; Rösen-Wolff, A.; Darai, G.; Becker, Y. 1992: Mutations in the UL53 gene of HSV-1 abolish virus neurovirulence to mice by the intracerebral route of infection. Virus Research 26(2): 99-112
Glavac, D.; Neumann, H.P.; Wittke, C.; Jaenig, H.; Masek, O.; Streicher, T.; Pausch, F.; Engelhardt, D.; Plate, K.H.; Höfler, H.; Chen, F.; Zbar, B.; Brauch, H. 1996: Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. Human Genetics 98(3): 271-280
Ricci, L.; Maione, R.; Passananti, C.; Felsani, A.; Amati, P. 1992: Mutations in the VP1 coding region of polyomavirus determine differentiating stage specificity. Journal of Virology 66(12): 7153-7158
Cowles, C.R.; Emr, S.D.; Horazdovsky, B.F. 1994: Mutations in the VPS45 gene, a SEC1 homologue, result in vacuolar protein sorting defects and accumulation of membrane vesicles. Journal of Cell Science 107: 3449-3459
Holtzman, E.J.; Kolakowski, L.F.; Geifman-Holtzman, O.; O'Brien, D.G.; Rasoulpour, M.; Guillot, A.P.; Ausiello, D.A. 1994: Mutations in the vasopressin V2 receptor gene in two families with nephrogenic diabetes insipidus. Journal of the American Society of Nephrology: Jasn 5(2): 169-176
King-Underwood, L.; Renshaw, J.; Pritchard-Jones, K. 1996: Mutations in the Wilms' tumor gene WT1 in leukemias. Blood 87(6): 2171-2179
Chun, K.; MacKay, N.; Petrova-Benedict, R.; Federico, A.; Fois, A.; Cole, D.E.; Robertson, E.; Robinson, B.H. 1995: Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. American Journal of Human Genetics 56(3): 558-569
Roos, D.; de Boer, M.; Kuribayashi, F.; Meischl, C.; Weening, R.S.; Segal, A.W.; Ahlin, A.; Nemet, K.; Hossle, J.P.; Bernatowska-Matuszkiewicz, E.; Middleton-Price, H. 1996: Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87(5): 1663-1681
Kobayashi, T.; Kuraoka, I.; Saijo, M.; Nakatsu, Y.; Tanaka, A.; Someda, Y.; Fukuro, S.; Tanaka, K. 1997: Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. Human Mutation 9(4): 322-331
Jacob, A.L.; Lund, J. 1998: Mutations in the activation function-2 core domain of steroidogenic factor-1 dominantly suppresses PKA-dependent transactivation of the bovine CYP17 gene. Journal of Biological Chemistry 273(22): 13391-13394
Kitchingman, G.R. 1995: Mutations in the adenovirus-encoded single-stranded DNA binding protein that result in altered accumulation of early and late viral RNAs. Virology 212(1): 91-101
Dodd, A.; Rowland, S.A.; Hawkes, S.L.; Kennedy, M.A.; Love, D.R. 1997: Mutations in the adrenoleukodystrophy gene. Human Mutation 9(6): 500-511
Caslake, L.F.; Ashraf, S.I.; Summers, A.O. 1997: Mutations in the alpha and sigma-70 subunits of RNA polymerase affect expression of the mer operon. Journal of Bacteriology 179(5): 1787-1795
Sharif, T.R.; Igo, M.M. 1993: Mutations in the alpha subunit of RNA polymerase that affect the regulation of porin gene transcription in Escherichia coli K-12. Journal of Bacteriology 175(17): 5460-5468
Shiang, R.; Ryan, S.G.; Zhu, Y.Z.; Hahn, A.F.; O'connell, P.; Wasmuth, J.J. 1993: Mutations in the alpha-1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nature Genetics 5(4): 351-358
Thuillier, V.; Brun, I.; Sentenac, A.; Werner, M. 1996: Mutations in the alpha-amanitin conserved domain of the largest subunit of yeast RNA polymerase III affect pausing, RNA cleavage and transcriptional transitions. EMBO Journal 15(3): 618-629
Lee, R.Y.; Lobel, L.; Hengartner, M.; Horvitz, H.R.; Avery, L. 1997: Mutations in the alpha1 subunit of an L-type voltage-activated Ca2+ channel cause myotonia in Caenorhabditis elegans. EMBO Journal 16(20): 6066-6076
Rosenberg, N.; Dardik, R.; Rosenthal, E.; Zivelin, A.; Seligsohn, U. 1998: Mutations in the alpha IIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes. Thrombosis and Haemostasis 79(2): 244-248
Trucco, C.; Flatter, E.; Fribourg, S.; de Murcia, G.; Ménissier-de Murcia, J. 1996: Mutations in the amino-terminal domain of the human poly(ADP-ribose) polymerase that affect its catalytic activity but not its DNA binding capacity. FEBS Letters 399(3): 313-316
Shridhar, R.; Shridhar, V.; Rivard, S.; Siegfried, J.M.; Pietraszkiewicz, H.; Ensley, J.; Pauley, R.; Grignon, D.; Sakr, W.; Miller, O.J.; Smith, D.I. 1996: Mutations in the arginine-rich protein gene, in lung, breast, and prostate cancers, and in squamous cell carcinoma of the head and neck. Cancer Research 56(24): 5576-5578
Hasegawa, Y.; Kawame, H.; Eto, Y. 1993: Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy. Dna and Cell Biology 12(6): 493-498
Palacios, J.; Gamallo, C. 1998: Mutations in the beta-catenin gene (CTNNB1) in endometrioid ovarian carcinomas. Cancer Research 58(7): 1344-1347
Drummond, D.R.; Hagan, I.M. 1998: Mutations in the bimC of Cut7 indicate divergence of regulation within the bimC family of kinesin related proteins. Journal of Cell Science 111(7): 853-865
Stibitz, S. 1994: Mutations in the bvgA gene of Bordetella pertussis that differentially affect regulation of virulence determinants. Journal of Bacteriology 176(18): 5615-5621
Adler, P.N.; Charlton, J.; Liu, J. 1998: Mutations in the cadherin superfamily member gene dachsous cause a tissue polarity phenotype by altering frizzled signaling. Development 125(5): 959-968
Brown, E.M. 1997: Mutations in the calcium-sensing receptor and their clinical implications. Hormone Research 48(5): 199-208
Ruffing, M.; Heid, H.; Kleinschmidt, J.A. 1994: Mutations in the carboxy terminus of adeno-associated virus 2 capsid proteins affect viral infectivity: lack of an RGD integrin-binding motif. Journal of General Virology 75: 3385-3392
Födinger, M.; Hirschl, M.M.; Schedler, D.; Herkner, H.; Bur, A.; Laggner, A.N.; Hörl, W.H.; Sunder-Plassmann, G. 1998: Mutations in the carboxy terminus of the beta and gamma subunits of the epithelial sodium channel are not present in patients with hypertensive crisis. European Journal of Clinical Investigation 28(9): 707-711
Pendergrast, P.S.; Morrison, D.; Tansey, W.P.; Hernandez, N. 1996: Mutations in the carboxy-terminal domain of TBP affect the synthesis of human immunodeficiency virus type 1 full-length and short transcripts similarly. Journal of Virology 70(8): 5025-5034
Kiefer, L.L.; Ittoop, O.R.; Bunce, K.; Truesdale, A.T.; Willard, D.H.; Nichols, J.S.; Blanchard, S.G.; Mountjoy, K.; Chen, W.J.; Wilkison, W.O. 1997: Mutations in the carboxyl terminus of the agouti protein decrease agouti inhibition of ligand binding to the melanocortin receptors. Biochemistry 36(8): 2084-2090
Zheng, Z.; Maidji, E.; Tugizov, S.; Pereira, L. 1996: Mutations in the carboxyl-terminal hydrophobic sequence of human cytomegalovirus glycoprotein B alter transport and protein chaperone binding. Journal of Virology 70(11): 8029-8040
Altamirano, M.; Marostenmaki, J.; Wong, A.; Fitzgerald, M.; Black, W.A.; Smith, J.A. 1994: Mutations in the catalase-peroxidase gene from isoniazid-resistant Mycobacterium tuberculosis isolates. Journal of Infectious Diseases 169(5): 1162-1165
Hamaguchi, N.; Roberts, H.; Stafford, D.W. 1993: Mutations in the catalytic domain of factor IX that are related to the subclass hemophilia Bm. Biochemistry 32(25): 6324-6329
Gorry, M.C.; Gabbaizedeh, D.; Furey, W.; Gates, L.K.; Preston, R.A.; Aston, C.E.; Zhang, Y.; Ulrich, C.; Ehrlich, G.D.; Whitcomb, D.C. 1997: Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 113(4): 1063-1068
Reymond, A.; Schmidt, S.; Simanis, V. 1992: Mutations in the cdc10 start gene of Schizosaccharomyces pombe implicate the region of homology between cdc10 and SWI6 as important for p85cdc10 function. Molecular and General Genetics: Mgg 234(3): 449-456
Sanna, M.G.; Swanson, R.V.; Bourret, R.B.; Simon, M.I. 1995: Mutations in the chemotactic response regulator, CheY, that confer resistance to the phosphatase activity of CheZ. Molecular Microbiology 15(6): 1069-1079
Karet, F.E.; Gainza, F.J.; Györy, A.Z.; Unwin, R.J.; Wrong, O.; Tanner, M.J.; Nayir, A.; Alpay, H.; Santos, F.; Hulton, S.A.; Bakkaloglu, A.; Ozen, S.; Cunningham, M.J.; di Pietro, A.; Walker, W.G.; Lifton, R.P. 1998: Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proceedings of the National Academy of Sciences of the United States of America 95(11): 6337-6342
Clark, H.M.; Yano, T.; Otsuki, T.; Jaffe, E.S.; Shibata, D.; Raffeld, M. 1994: Mutations in the coding region of c-MYC in AIDS-associated and other aggressive lymphomas. Cancer Research 54(13): 3383-3386
Bhatia, K.; Spangler, G.; Gaidano, G.; Hamdy, N.; Dalla-Favera, R.; Magrath, I. 1994: Mutations in the coding region of c-myc occur frequently in acquired immunodeficiency syndrome-associated lymphomas. Blood 84(3): 883-888
Hara, M.; Lindner, T.H.; Paz, V.P.; Wang, X.; Iwasaki, N.; Ogata, M.; Iwamoto, Y.; Bell, G.I. 1998: Mutations in the coding region of the insulin promoter factor 1 gene are not a common cause of maturity-onset diabetes of the young in Japanese subjects. Diabetes 47(5): 845-846
Ito, W.; Yasui, H.; Kurosawa, Y. 1995: Mutations in the complementarity-determining regions do not cause differences in free energy during the process of formation of the activated complex between an antibody and the corresponding protein antigen. Journal of Molecular Biology 248(4): 729-732
Swain, P.K.; Chen, S.; Wang, Q.L.; Affatigato, L.M.; Coats, C.L.; Brady, K.D.; Fishman, G.A.; Jacobson, S.G.; Swaroop, A.; Stone, E.; Sieving, P.A.; Zack, D.J. 1997: Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron. : 1329-1336,.
Fairweather, N.; Bell, C.; Cochrane, S.; Chelly, J.; Wang, S.; Mostacciuolo, M.L.; Monaco, A.P.; Haites, N.E. 1994: Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Human Molecular Genetics 3(1): 29-34
Turner, L.R.; Lara, J.C.; Nunn, D.N.; Lory, S. 1993: Mutations in the consensus ATP-binding sites of XcpR and PilB eliminate extracellular protein secretion and pilus biogenesis in Pseudomonas aeruginosa. Journal of Bacteriology 175(16): 4962-4969
Saatcioglu, F.; Lopez, G.; West, B.L.; Zandi, E.; Feng, W.; Lu, H.; Esmaili, A.; Apriletti, J.W.; Kushner, P.J.; Baxter, J.D.; Karin, M. 1997: Mutations in the conserved C-terminal sequence in thyroid hormone receptor dissociate hormone-dependent activation from interference with AP-1 activity. Molecular and Cellular Biology 17(8): 4687-4695
Cortes, J.J.; Sontheimer, E.J.; Seiwert, S.D.; Steitz, J.A. 1993: Mutations in the conserved loop of human U5 snRNA generate use of novel cryptic 5' splice sites in vivo. EMBO Journal 12(13): 5181-5189
Thomas, S.; Brennan, J.; Martel, G.; Frazer, I.; Montesano, R.; Sidransky, D.; Hollstein, M. 1994: Mutations in the conserved regions of p53 are infrequent in betel-associated oral cancers from Papua new Guinea. Cancer Research 54(13): 3588-3593
Rowlett, R.; Yang, L.H.; Ahmed, S.A.; McPhie, P.; Jhee, K.H.; Miles, E.W. 1998: Mutations in the contact region between the alpha and beta subunits of tryptophan synthase alter subunit interaction and intersubunit communication. Biochemistry 37(9): 2961-2968
Kurosaki, M.; Enomoto, N.; Asahina, Y.; Sakuma, I.; Ikeda, T.; Tozuka, S.; Izumi, N.; Marumo, F.; Sato, C. 1996: Mutations in the core promoter region of hepatitis B virus in patients with chronic hepatitis B. Journal of Medical Virology 49(2): 115-123
Kimura, T.; Yoshimoto, K.; Yokogoshi, Y.; Saito, S. 1995: Mutations in the cysteine-rich region of the RET proto-oncogene in patients diagnosed as having sporadic medullary thyroid carcinoma. Endocrine Journal 42(4): 517-525
Chillón, M.; Casals, T.; Mercier, B.; Bassas, L.; Lissens, W.; Silber, S.; Romey, M.C.; Ruiz-Romero, J.; Verlingue, C.; Claustres, M. 1995: Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New England Journal of Medicine 332(22): 1475-1480
Yu, X.; Yuan, X.; McLane, M.F.; Lee, T.H.; Essex, M. 1993: Mutations in the cytoplasmic domain of human immunodeficiency virus type 1 transmembrane protein impair the incorporation of Env proteins into mature virions. Journal of Virology 67(1): 213-221
Van Nhieu, G.T.; Krukonis, E.S.; Reszka, A.A.; Horwitz, A.F.; Isberg, R.R. 1996: Mutations in the cytoplasmic domain of the integrin beta1 chain indicate a role for endocytosis factors in bacterial internalization. Journal of Biological Chemistry 271(13): 7665-7672
Bilsel, P.; Castrucci, M.R.; Kawaoka, Y. 1993: Mutations in the cytoplasmic tail of influenza A virus neuraminidase affect incorporation into virions. Journal of Virology 67(11): 6762-6767
Stack, A.E.; Cain, B.D. 1994: Mutations in the delta subunit influence the assembly of F1F0 ATP synthase in Escherichia coli. Journal of Bacteriology 176(2): 540-542
Adrian, P.V.; Klugman, K.P. 1997: Mutations in the dihydrofolate reductase gene of trimethoprim-resistant isolates of Streptococcus pneumoniae. Antimicrobial Agents and ChemoTherapy 41(11): 2406-2413
Foss, H.M.; Roberts, C.J.; Selker, E.U. 1998: Mutations in the dim-1 gene of Neurospora crassa reduce the level of DNA methylation. Molecular and General Genetics: Mgg 259(1): 60-71
Cai, R.; Williams, B.R. 1998: Mutations in the double-stranded RNA-activated protein kinase insert region that uncouple catalysis from eIF2alpha binding. Journal of Biological Chemistry 273(18): 11274-11280
Noguchi, S.; McNally, E.M.; Ben Othmane, K.; Hagiwara, Y.; Mizuno, Y.; Yoshida, M.; Yamamoto, H.; Bönnemann, C.G.; Gussoni, E.; Denton, P.H.; Kyriakides, T.; Middleton, L.; Hentati, F.; Ben Hamida, M.; Nonaka, I.; Vance, J.M.; Kunkel, L.M.; Ozawa, E. 1995: Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 270(5237): 819-822
Foley, B.T.; Moehring, J.M.; Moehring, T.J. 1995: Mutations in the elongation factor 2 gene which confer resistance to diphtheria toxin and Pseudomonas exotoxin A. Genetic and biochemical analyses. Journal of Biological Chemistry 270(39): 23218-23225
Liu, L.N.; Lee, H.; Hernandez, R.; Brown, D.T. 1996: Mutations in the endo domain of Sindbis virus glycoprotein E2 block phosphorylation, reorientation of the endo domain, and nucleocapsid binding. Virology 222(1): 236-246
Kohno, H.; Inoue, T.; Tsuda, F.; Okamoto, H.; Akahane, Y. 1996: Mutations in the envelope gene of hepatitis B virus variants co-occurring with antibody to surface antigen in sera from patients with chronic hepatitis B. Journal of General Virology 77: 1825-1831
Hasegawa, H.; Yoshida, M.; Shiosaka, T.; Fujita, S.; Kobayashi, Y. 1992: Mutations in the envelope protein of Japanese encephalitis virus affect entry into cultured cells and virulence in mice. Virology 191(1): 158-165
Fallows, D.A.; Goff, S.P. 1995: Mutations in the epsilon sequences of human hepatitis B virus affect both RNA encapsidation and reverse transcription. Journal of Virology 69(5): 3067-3073
Dianzani, I.; Garelli, E.; Dompè, C.; Crescenzio, N.; Locatelli, F.; Schilirò, G.; Castaman, G.; Bagnara, G.P.; Olivieri, N.F.; Gabutti, V.; Ramenghi, U. 1996: Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. Blood 87(6): 2568-2572
Sluyser, M. 1995: Mutations in the estrogen receptor gene. Human Mutation 6(2): 97-103
Hwang, Y.T.; Smith, J.F.; Gao, L.; Hwang, C.B. 1998: Mutations in the Exo IIi motif of the herpes simplex virus DNA polymerase gene can confer altered drug sensitivities. Virology 246(2): 298-305
Cosma, M.P.; Cardone, M.; Carlomagno, F.; Colantuoni, V. 1998: Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism. Molecular and Cellular Biology 18(6): 3321-3329
Daigle, F.; Dozois, C.M.; Jacques, M.; Harel, J. 1997: Mutations in the f165(1)A and f165(1)E fimbrial genes and regulation of their expression in an Escherichia coli strain causing septicemia in pigs. Microbial Pathogenesis 22(4): 247-252
Gouya, L.; Schneider-Yin, X.; Rüfenacht, U.; Herrero, C.; Lecha, M.; Mascaro, J.M.; Puy, H.; Deybach, J.C.; Minder, E.I. 1998: Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria. Journal of Investigative Dermatology 111(3): 406-409
Macdonald, D.L.; Pasloske, B.L.; Paranchych, W. 1993: Mutations in the fifth-position glutamate in Pseudomonas aeruginosa pilin affect the transmethylation of the N-terminal phenylalanine. Canadian Journal of Microbiology 39(5): 500-505
Ekwall, K.; Nimmo, E.R.; Javerzat, J.P.; Borgstrøm, B.; Egel, R.; Cranston, G.; Allshire, R. 1996: Mutations in the fission yeast silencing factors clr4+ and rik1+ disrupt the localisation of the chromo domain protein Swi6p and impair centromere function. Journal of Cell Science 109: 2637-2648
St-Louis, M.; Tanguay, R.M. 1997: Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. Human Mutation 9(4): 291-299
Sommer, M.; Gathof, B.S.; Podskarbi, T.; Giugliani, R.; Kleinlein, B.; Shin, Y.S. 1995: Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. Journal of Inherited Metabolic Disease 18(5): 567-576
Ohlsson, G.; Schwartz, M. 1997: Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing. Human Genetics 99(1): 98-102
Pennacchio, L.A.; Lehesjoki, A.E.; Stone, N.E.; Willour, V.L.; Virtaneva, K.; Miao, J.; D'Amato, E.; Ramirez, L.; Faham, M.; Koskiniemi, M.; Warrington, J.A.; Norio, R.; de la Chapelle, A.; Cox, D.R.; Myers, R.M. 1996: Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271(5256): 1731-1734
Santocanale, C.; Neecke, H.; Longhese, M.P.; Lucchini, G.; Plevani, P. 1995: Mutations in the gene encoding the 34 kDa subunit of yeast replication protein a cause defective S phase progression. Journal of Molecular Biology 254(4): 595-607
Dryja, T.P.; Finn, J.T.; Peng, Y.W.; McGee, T.L.; Berson, E.L.; Yau, K.W. 1995: Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proceedings of the National Academy of Sciences of the United States of America 92(22): 10177-10181
Fang, F.C.; Durland, R.H.; Helinski, D.R. 1993: Mutations in the gene encoding the replication-initiation protein of plasmid RK2 produce elevated copy numbers of RK2 derivatives in Escherichia coli and distantly related bacteria. Gene 133(1): 1-8
Braun, A.; Ambach, H.; Kammerer, S.; Rolinski, B.; Stöckler, S.; Rabl, W.; Gärtner, J.; Zierz, S.; Roscher, A.A. 1995: Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. American Journal of Human Genetics 56(4): 854-861
Garrity, D.B.; Zahler, S.A. 1994: Mutations in the gene for a tRNA that functions as a regulator of a transcriptional attenuator in Bacillus subtilis. Genetics 137(3): 627-636
Niimura, H.; Bachinski, L.L.; Sangwatanaroj, S.; Watkins, H.; Chudley, A.E.; McKenna, W.; Kristinsson, A.; Roberts, R.; Sole, M.; Maron, B.J.; Seidman, J.G.; Seidman, C.E. 1998: Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. New England Journal of Medicine 338(18): 1248-1257
Spencer, H.T.; Sorrentino, B.P.; Pui, C.H.; Chunduru, S.K.; Sleep, S.E.; Blakley, R.L. 1996: Mutations in the gene for human dihydrofolate reductase: an unlikely cause of clinical relapse in pediatric leukemia after therapy with methotrexate. Leukemia 10(3): 439-446
Pimstone, S.N.; Gagné, S.E.; Gagné, C.; Lupien, P.J.; Gaudet, D.; Williams, R.R.; Kotze, M.; Reymer, P.W.; Defesche, J.C.; Kastelein, J.J. 1995: Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia. Arteriosclerosis Thrombosis and Vascular Biology 15(10): 1704-1712
Dong, F.; Brynes, R.K.; Tidow, N.; Welte, K.; Löwenberg, B.; Touw, I.P. 1995: Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. New England Journal of Medicine 333(8): 487-493
Reed, J.W.; Nagpal, P.; Poole, D.S.; Furuya, M.; Chory, J. 1993: Mutations in the gene for the red/far-red light receptor phytochrome B alter cell elongation and physiological responses throughout Arabidopsis development. Plant Cell 5(2): 147-157
Mulligan, P.K.; Campos, A.R.; Jacobs, J.R. 1996: Mutations in the gene stand still disrupt germ cell differentiation in Drosophila ovaries. Developmental Genetics 18(4): 316-324
Watkins, H.; McKenna, W.J.; Thierfelder, L.; Suk, H.J.; Anan, R.; O'Donoghue, A.; Spirito, P.; Matsumori, A.; Moravec, C.S.; Seidman, J.G. 1995: Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. New England Journal of Medicine 332(16): 1058-1064
Leigh, I.M.; Lane, E.B. 1993: Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis. Archives of Dermatology 129(12): 1571-1577
Gitomer, W.L.; Reed, B.Y.; Ruml, L.A.; Sakhaee, K.; Pak, C.Y. 1998: Mutations in the genomic deoxyribonucleic acid for SLC3A1 in patients with cystinuria. Journal of Clinical Endocrinology and Metabolism 83(10): 3688-3694
Lei, K.J.; Shelly, L.L.; Lin, B.; Sidbury, J.B.; Chen, Y.T.; Nordlie, R.C.; Chou, J.Y. 1995: Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. Journal of Clinical Investigation 95(1): 234-240
Aoki, M.; Lin, C.L.; Rothstein, J.D.; Geller, B.A.; Hosler, B.A.; Munsat, T.L.; Horvitz, H.R.; Brown, R.H. 1998: Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis. Annals of Neurology 43(5): 645-653
Caggese, C.; Caizzi, R.; Barsanti, P.; Bozzetti, M.P. 1992: Mutations in the glutamine synthetase i (gsI) gene produce embryo-lethal female sterility in Drosophila melanogaster. Developmental Genetics 13(5): 359-366
Miller, S.; Douglas, R.M.; Carter, P.; Booth, I.R. 1997: Mutations in the glutathione-gated KefC K+ efflux system of Escherichia coli that cause constitutive activation. Journal of Biological Chemistry 272(40): 24942-24947
Wehtje, C.; Beijer, L.; Nilsson, R-Pär.; Rutberg, B. 1995: Mutations in the glycerol kinase gene restore the ability of a ptsGHI mutant of Bacillus subtilis to grow on glycerol. Microbiology 141: 1193-1198
Takahata, M.; Yonezawa, M.; Kurose, S.; Futakuchi, N.; Matsubara, N.; Watanabe, Y.; Narita, H. 1996: Mutations in the gyrA and grlA genes of quinolone-resistant clinical isolates of methicillin-resistant Staphylococcus aureus. Journal of Antimicrobial ChemoTherapy 38(3): 543-546
Nishino, Y.; Deguchi, T.; Yasuda, M.; Kawamura, T.; Nakano, M.; Kanematsu, E.; Ozeki, S.; Kawada, Y. 1997: Mutations in the gyrA and parC genes associated with fluoroquinolone resistance in clinical isolates of Citrobacter freundii. Fems Microbiology Letters 154(2): 409-414
Nakano, M.; Deguchi, T.; Kawamura, T.; Yasuda, M.; Kimura, M.; Okano, Y.; Kawada, Y. 1997: Mutations in the gyrA and parC genes in fluoroquinolone-resistant clinical isolates of Pseudomonas aeruginosa. Antimicrobial Agents and ChemoTherapy 41(10): 2289-2291
Heisig, P.; Schedletzky, H.; Falkenstein-Paul, H. 1993: Mutations in the gyrA gene of a highly fluoroquinolone-resistant clinical isolate of Escherichia coli. Antimicrobial Agents and Chemotherapy 37(4): 696-701
Nitiss, J.L.; Vilalta, P.M.; Wu, H.; McMahon, J. 1994: Mutations in the gyrB domain of eukaryotic topoisomerase Ii can lead to partially dominant resistance to etoposide and amsacrine. Molecular Pharmacology 46(4): 773-777
Willins, D.A.; Liu, B.; Xiang, X.; Morris, N.R. 1997: Mutations in the heavy chain of cytoplasmic dynein suppress the nudF nuclear migration mutation of Aspergillus nidulans. Molecular and General Genetics: Mgg 255(2): 194-200
Wang, J.; Grossman, L. 1993: Mutations in the helix-turn-helix motif of the Escherichia coli UvrA protein eliminate its specificity for UV-damaged DNA. Journal of Biological Chemistry 268(7): 5323-5331
Smeenk, C.A.; Wright, K.E.; Burns, B.F.; Thaker, A.J.; Brown, E.G. 1996: Mutations in the hemagglutinin and matrix genes of a virulent influenza virus variant, A/FM/1/47-MA, control different stages in pathogenesis. Virus Research 44(2): 79-95
McMillan, J.S.; Bowden, D.S.; Angus, P.W.; McCaughan, G.W.; Locarnini, S.A. 1996: Mutations in the hepatitis B virus precore/core gene and core promoter in patients with severe recurrent disease following liver transplantation. Hepatology 24(6): 1371-1378
Frayling, T.M.; Bulamn, M.P.; Ellard, S.; Appleton, M.; Dronsfield, M.J.; Mackie, A.D.; Baird, J.D.; Kaisaki, P.J.; Yamagata, K.; Bell, G.I.; Bain, S.C.; Hattersley, A.T. 1997: Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes 46(4): 720-725
Kaisaki, P.J.; Menzel, S.; Lindner, T.; Oda, N.; Rjasanowski, I.; Sahm, J.; Meincke, G.; Schulze, J.; Schmechel, H.; Petzold, C.; Ledermann, H.M.; Sachse, G.; Boriraj, V.V.; Menzel, R.; Kerner, W.; Turner, R.C.; Yamagata, K.; Bell, G.I. 1997: Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes 46(3): 528-535
Iwasaki, N.; Oda, N.; Ogata, M.; Hara, M.; Hinokio, Y.; Oda, Y.; Yamagata, K.; Kanematsu, S.; Ohgawara, H.; Omori, Y.; Bell, G.I. 1997: Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes 46(9): 1504-1508
Yu, Y.; Jiang, Y.W.; Wellinger, R.J.; Carlson, K.; Roberts, J.M.; Stillman, D.J. 1996: Mutations in the homologous ZDS1 and ZDS2 genes affect cell cycle progression. Molecular and Cellular Biology 16(10): 5254-5263
Pollak, M.R.; Brown, E.M.; Chou, Y.H.; Hebert, S.C.; Marx, S.J.; Steinmann, B.; Levi, T.; Seidman, C.E.; Seidman, J.G. 1993: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75(7): 1297-1303
Schloesser, M.; Zeerleder, S.; Lutze, G.; Halbmayer, W.M.; Hofferbert, S.; Hinney, B.; Koestering, H.; Lämmle, B.; Pindur, G.; Thies, K.; Köhler, M.; Engel, W. 1997: Mutations in the human factor XII gene. Blood 90(10): 3967-3977
Unden, A.B.; Holmberg, E.; Lundh-Rozell, B.; Stähle-Bäckdahl, M.; Zaphiropoulos, P.G.; Toftgård, R.; Vorechovsky, I. 1996: Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation. Cancer Research 56(20): 4562-4565
Chidambaram, A.; Goldstein, A.M.; Gailani, M.R.; Gerrard, B.; Bale, S.J.; DiGiovanna, J.J.; Bale, A.E.; Dean, M. 1996: Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Research 56(20): 4599-4601
Maesawa, C.; Tamura, G.; Iwaya, T.; Ogasawara, S.; Ishida, K.; Sato, N.; Nishizuka, S.; Suzuki, Y.; Ikeda, K.; Aoki, K.; Saito, K.; Satodate, R. 1998: Mutations in the human homologue of the Drosophila patched gene in esophageal squamous cell carcinoma. Genes Chromosomes and Cancer 21(3): 276-279
Wolter, M.; Reifenberger, J.; Sommer, C.; Ruzicka, T.; Reifenberger, G. 1997: Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. Cancer Research 57(13): 2581-2585
Minegishi, Y.; Coustan-Smith, E.; Wang, Y.H.; Cooper, M.D.; Campana, D.; Conley, M.E. 1998: Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. Journal of Experimental Medicine 187(1): 71-77
Lipscombe, R.J.; Beatty, D.W.; Ganczakowski, M.; Goddard, E.A.; Jenkins, T.; Lau, Y.L.; Spurdle, A.B.; Sumiya, M.; Summerfield, J.A.; Turner, M.W. 1996: Mutations in the human mannose-binding protein gene: frequencies in several population groups. European Journal of Human Genetics: Ejhg 4(1): 13-19
Storey, A.; Piccini, A.; Massimi, P.; Bouvard, V.; Banks, L. 1995: Mutations in the human papillomavirus type 16 E2 protein identify a region of the protein involved in binding to E1 protein. Journal of General Virology 76: 819-826
Piccini, A.; Storey, A.; Massimi, P.; Banks, L. 1995: Mutations in the human papillomavirus type 16 E2 protein identify multiple regions of the protein involved in binding to E1. Journal of General Virology 76: 2909-2913
Zhang, J.; George, A.L.; Griggs, R.C.; Fouad, G.T.; Roberts, J.; Kwieciński, H.; Connolly, A.M.; Ptácek, L.J. 1996: Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 47(4): 993-998
Lama, J.; Carrasco, L. 1995: Mutations in the hydrophobic domain of poliovirus protein 3AB abrogate its permeabilizing activity. Febs Letters 367(1): 5-11
Wang, H.; Zhang, L.; Liddington, R.; Fu, H. 1998: Mutations in the hydrophobic surface of an amphipathic groove of 14-3-3zeta disrupt its interaction with Raf-1 kinase. Journal of Biological Chemistry 273(26): 16297-16304
Olsen, T.C.; Eiken, H.G.; Knappskog, P.M.; Kase, B.F.; Månsson, J.E.; Boman, H.; Apold, J. 1996: Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome. Human Genetics 97(2): 198-203
Fukuma, T.; Enomoto, N.; Marumo, F.; Sato, C. 1998: Mutations in the interferon-sensitivity determining region of hepatitis C virus and transcriptional activity of the nonstructural region 5A protein. Hepatology 28(4): 1147-1153
Sawin, K.E.; Mitchison, T.J. 1995: Mutations in the kinesin-like protein Eg5 disrupting localization to the mitotic spindle. Proceedings of the National Academy of Sciences of the United States of America 92(10): 4289-4293
Helbling-Leclerc, A.; Zhang, X.; Topaloglu, H.; Cruaud, C.; Tesson, F.; Weissenbach, J.; Tome, F., M.S.; Schwartz, K.; Fardeau, M.; Tryggvason, K.; Guicheney, P. 1995: Mutations in the laminin alpha-2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genetics 11(2): 216-218
Pereira, H.S.; Sokolowski, M.B. 1993: Mutations in the larval foraging gene affect adult locomotory behavior after feeding in Drosophila melanogaster. Proceedings of the National Academy of Sciences of the United States of America 90(11): 5044-5046
Balzer, M.; Wagner, R. 1998: Mutations in the leader region of ribosomal RNA operons cause structurally defective 30 S ribosomes as revealed by in vivo structural probing. Journal of Molecular Biology 276(3): 547-557
McPhaul, M.J.; Marcelli, M.; Zoppi, S.; Wilson, C.M.; Griffin, J.E.; Wilson, J.D. 1992: Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. Journal of Clinical Investigation 90(5): 2097-2101
Fleischman, R.A.; Gallardo, T.; Mi, X. 1996: Mutations in the ligand-binding domain of the kit receptor: An uncommon site in human piebaldism. Journal of Investigative Dermatology 107(5): 703-706
Manetti, R.; Aricò, B.; Rappuoli, R.; Scarlato, V. 1994: Mutations in the linker region of BvgS abolish response to environmental signals for the regulation of the virulence factors in Bordetella pertussis. Gene 150(1): 123-127
Burwinkel, B.; Bakker, H.D.; Herschkovitz, E.; Moses, S.W.; Shin, Y.S.; Kilimann, M.W. 1998: Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. American Journal of Human Genetics 62(4): 785-791
Orho, M.; Bosshard, N.U.; Buist, N.R.; Gitzelmann, R.; Aynsley-Green, A.; Blümel, P.; Gannon, M.C.; Nuttall, F.Q.; Groop, L.C. 1998: Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. Journal of Clinical Investigation 102(3): 507-515
Chen, Z.; Storthz, K.A.; Shillitoe, E.J. 1997: Mutations in the long control region of human papillomavirus DNA in oral cancer cells, and their functional consequences. Cancer Research 57(8): 1614-1619
Lombardi, P.; Sijbrands, E.J.; van de Giessen, K.; Smelt, A.H.; Kastelein, J.J.; Frants, R.R.; Havekes, L.M. 1995: Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. Journal of Lipid Research 36(4): 860-867
Mak, Y.T.; Pang, C.P.; Tomlinson, B.; Zhang, J.; Chan, Y.S.; Mak, T.W.; Masarei, J.R. 1998: Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. Arteriosclerosis Thrombosis and Vascular Biology 18(10): 1600-1605
Ekström, U.; Abrahamson, M.; Wallmark, A.; Florén, C.H.; Nilsson-Ehle, P. 1998: Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response. European Journal of Clinical Investigation 28(9): 740-747
Chakraborty, S.; Rafi, M.A.; Wenger, D.A. 1994: Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis. American Journal of Human Genetics 54(6): 1004-1013
Hamel, P.; Lemaire, C.; Bonnefoy, N.; Brivet-Chevillotte, P.; Dujardin, G. 1998: Mutations in the membrane anchor of yeast cytochrome c1 compensate for the absence of Oxa1p and generate carbonate-extractable forms of cytochrome c1. Genetics 150(2): 601-611
Owens, R.J.; Burke, C.; Rose, J.K. 1994: Mutations in the membrane-spanning domain of the human immunodeficiency virus envelope glycoprotein that affect fusion activity. Journal of Virology 68(1): 570-574
Lin, S.; Naim, H.Y.; Rodriguez, A.C.; Roth, M.G. 1998: Mutations in the middle of the transmembrane domain reverse the polarity of transport of the influenza virus hemagglutinin in MDCK epithelial cells. Journal of Cell Biology 142(1): 51-57
Weber, E.R.; Rooks, R.S.; Shafer, K.S.; Chase, J.W.; Thorsness, P.E. 1995: Mutations in the mitochondrial ATP synthase gamma subunit suppress a slow-growth phenotype of yme1 yeast lacking mitochondrial DNA. Genetics 140(2): 435-442
Netter, P.; Robineau, S.; Lemaire, C. 1995: Mutations in the mitochondrial split gene COXI are preferentially located in exons: A mapping study of 170 mutants. Molecular and General Genetics: Mgg 246(4): 445-454
Yel, L.; Minegishi, Y.; Coustan-Smith, E.; Buckley, R.H.; Trübel, H.; Pachman, L.M.; Kitchingman, G.R.; Campana, D.; Rohrer, J.; Conley, M.E. 1996: Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. New England Journal of Medicine 335(20): 1486-1493
Potter, M.D.; Shinpock, S.G.; Popp, R.A.; Godfrey, V.; Carpenter, D.A.; Bernstein, A.; Johnson, D.K.; Rinchik, E.M. 1997: Mutations in the murine fitness 1 gene result in defective hematopoiesis. Blood 90(5): 1850-1857
Moriya, M.; Grollman, A., P. 1993: Mutations in the mutY gene of Escherichia coli enhance the frequency of targeted G:C fwdarw T:A transversions induced by a single 8-oxoguanine residue in single-stranded DNA. Molecular and General Genetics 239(1-2): 72-76
Latour, P.; Blanquet, F.; Nelis, E.; Bonnebouche, C.; Chapon, F.; Diraison, P.; Ollagnon, E.; Dautigny, A.; Pham-Dinh, D.; Chazot, G. 1995: Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B. Human Mutation 6(1): 50-54
Rivero-Lezcano, O.M.; Marcilla, A.; Robbins, K.C. 1995: Mutations in the non-catalytic domains of Fyn and Fgr tyrosine kinases reveal differences in mechanisms of their regulation. Oncogene 11(12): 2675-2679
Chan, Y.M.; Yu, Q.C.; LeBlanc-Straceski, J.; Christiano, A.; Pulkkinen, L.; Kucherlapati, R.S.; Uitto, J.; Fuchs, E. 1994: Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. Journal of Cell Science 107: 765-774
Bergmann, M.; Muster, T. 1996: Mutations in the nonconserved noncoding sequences of the influenza A virus segments affect viral vRNA formation. Virus Research 44(1): 23-31
Zeuzem, S.; Lee, J.H.; Roth, W.K. 1997: Mutations in the nonstructural 5A gene of European hepatitis C virus isolates and response to interferon alfa. Hepatology 25(3): 740-744
Squadrito, G.; Leone, F.; Sartori, M.; Nalpas, B.; Berthelot, P.; Raimondo, G.; Pol, S.; Bréchot, C. 1997: Mutations in the nonstructural 5A region of hepatitis C virus and response of chronic hepatitis C to interferon alfa. Gastroenterology 113(2): 567-572
Enomoto, N.; Sakuma, I.; Asahina, Y.; Kurosaki, M.; Murakami, T.; Yamamoto, C.; Ogura, Y.; Izumi, N.; Marumo, F.; Sato, C. 1996: Mutations in the nonstructural protein 5A gene and response to interferon in patients with chronic hepatitis C virus 1b infection. New England Journal of Medicine 334(2): 77-81
Komatsu, H.; Fujisawa, T.; Inui, A.; Miyagawa, Y.; Onoue, M. 1997: Mutations in the nonstructural protein 5A gene and response to interferon therapy in young patients with chronic hepatitis C virus 1b infection. Journal of Medical Virology 53(4): 361-365,.
Grodsky, N.B.; Dou, C.; Allison, W.S. 1998: Mutations in the nucleotide binding domain of the alpha subunits of the F1-ATPase from thermophilic Bacillus PS3 that affect cross-talk between nucleotide binding sites. Biochemistry 37(4): 1007-1014
Beaudet, L.; Urbatsch, I.L.; Gros, P. 1998: Mutations in the nucleotide-binding sites of P-glycoprotein that affect substrate specificity modulate substrate-induced adenosine triphosphatase activity. Biochemistry 37(25): 9073-9082
Nacht, M.; Strasser, A.; Chan, Y.R.; Harris, A.W.; Schlissel, M.; Bronson, R.T.; Jacks, T. 1996: Mutations in the p53 and SCID genes cooperate in tumorigenesis. Genes and Development 10(16): 2055-2066
Chiba, I.; Shindoh, M.; Yasuda, M.; Yamazaki, Y.; Amemiya, A.; Sato, Y.; Fujinaga, K.; Notani, K.; Fukuda, H. 1996: Mutations in the p53 gene and human papillomavirus infection as significant prognostic factors in squamous cell carcinomas of the oral cavity. Oncogene 12(8): 1663-1668
Kocialkowski, S.; Pezzella, F.; Morrison, H.; Jones, M.; Laha, S.; Harris, A.L.; Mason, D.Y.; Gatter, K.C. 1995: Mutations in the p53 gene are not limited to classic 'hot spots' and are not predictive of p53 protein expression in high-grade non-Hodgkin's lymphoma. British Journal of Haematology 89(1): 55-60
Hunter, S.B.; Bandea, C.; Swan, D.; Abbott, K.; Varma, V.A. 1993: Mutations in the p53 gene in human astrocytomas: detection by single-strand conformation polymorphism analysis and direct DNA sequencing. Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology Inc 6(4): 442-445
Wang, X.; Christiani, D.C.; Wiencke, J.K.; Fischbein, M.; Xu, X.; Cheng, T.J.; Mark, E.; Wain, J.C.; Kelsey, K.T. 1995: Mutations in the p53 gene in lung cancer are associated with cigarette smoking and asbestos exposure. Cancer Epidemiology Biomarkers and Prevention: a Publication of the American Association for Cancer Research Cosponsored by the American Society of Preventive Oncology 4(5): 543-548
Bodner, S.M.; Koss, M.N. 1996: Mutations in the p53 gene in pulmonary blastomas: immunohistochemical and molecular studies. Human Pathology 27(11): 1117-1123
Jung, M.; Notario, V.; Dritschilo, A. 1992: Mutations in the p53 gene in radiation-sensitive and -resistant human squamous carcinoma cells. Cancer Research 52(22): 6390-6393
Warren, W.; Biggs, P.J.; el-Baz, M.; Ghoneim, M.A.; Stratton, M.R.; Venitt, S. 1995: Mutations in the p53 gene in schistosomal bladder cancer: a study of 92 tumours from Egyptian patients and a comparison between mutational spectra from schistosomal and non-schistosomal urothelial tumours. Carcinogenesis 16(5): 1181-1189
Brentnall, T.A.; Crispin, D.A.; Rabinovitch, P.S.; Haggitt, R.C.; Rubin, C.E.; Stevens, A.C.; Burmer, G.C. 1994: Mutations in the p53 gene: an early marker of neoplastic progression in ulcerative colitis. Gastroenterology 107(2): 369-378
Wang, D.; Weghorst, C.M.; Calvert, R.J.; Stoner, G.D. 1996: Mutation in the p53 tumor suppressor gene in rat esophageal papillomas induced by N-nitrosomethylbenzylamine. Carcinogenesis 17(4): 625-630
Hillebrandt, S.; Streffer, C.; Reiners, C.; Demidchik, E. 1996: Mutations in the p53 tumour suppressor gene in thyroid tumours of children from areas contaminated by the Chernobyl accident. International Journal of Radiation Biology 69(1): 39-45
Mitchison, H.M.; Hofmann, S.L.; Becerra, C.H.; Munroe, P.B.; Lake, B.D.; Crow, Y.J.; Stephenson, J.B.; Williams, R.E.; Hofman, I.L.; Taschner, P.E.; Martin, J.J.; Philippart, M.; Andermann, E.; Andermann, F.; Mole, S.E.; Gardiner, R.M.; O'Rawe, A.M. 1998: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Human Molecular Genetics 7(2): 291-297
Tan, G.T.; DeBlasio, A.; Mankin, A.S. 1996: Mutations in the peptidyl transferase center of 23 S rRNA reveal the site of action of sparsomycin, a universal inhibitor of translation. Journal of Molecular Biology 261(2): 222-230
Gregory, S.T.; Lieberman, K.R.; Dahlberg, A.E. 1994: Mutations in the peptidyl transferase region of E. coli 23S rRNA affecting translational accuracy. Nucleic Acids Research 22(3): 279-284
Güttler, F.; Guldberg, P. 1994: Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypic variability of hyperphenylalaninemia. Acta Paediatrica . Supplement 407: 49-56
Guldberg, P.; Güttler, F. 1994: Mutations in the phenylalanine hydroxylase gene: methods for their characterization. Acta Paediatrica . Supplement 407: 27-33
Hendrickx, J.; Coucke, P.; Dams, E.; Lee, P.; Odièvre, M.; Corbeel, L.; Fernandes, J.F.; Willems, P.J. 1995: Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Human Molecular Genetics 4(1): 77-83
Ansardi, D.C.; Luo, M.; Morrow, C.D. 1994: Mutations in the poliovirus P1 capsid precursor at arginine residues VP4-ARG34, VP3-ARG223, and VP1-ARG129 affect virus assembly and encapsidation of genomic RNA. Virology 199(1): 20-34
Zhou, H.; Chepilko, S.; Schütt, W.; Choe, H.; Palmer, L.G.; Sackin, H. 1996: Mutations in the pore region of ROMK enhance Ba2+ block. American Journal of Physiology 271(6 Pt 1): C1949-C1956
Kim, W.H.; Kim, K.H.; Chung, J.P.; Kang, J.K.; Park, I.S. 1993: Mutations in the pre-core region of hepatitis B virus DNA in patients with chronic liver diseases. Yonsei Medical Journal 34(2): 158-165
Lok, A.S.; Akarca, U.; Greene, S. 1994: Mutations in the pre-core region of hepatitis B virus serve to enhance the stability of the secondary structure of the pre-genome encapsidation signal. Proceedings of the National Academy of Sciences of the United States of America 91(9): 4077-4081
Levy, M.; Adam, Z. 1995: Mutations in the processing site of the precursor of ribulose-1,5-bisphosphate carboxylase/oxygenase small subunit: Effects on import, processing, assembly and stability. Plant Molecular Biology 29(1): 53-61
Abdel-Halim, S.M.; Guenifi, A.; He, B.; Yang, B.; Mustafa, M.; Höjeberg, B.; Hillert, J.; Bakhiet, M.; Efendić, S. 1998: Mutations in the promoter of adenylyl cyclase (AC)-III gene, overexpression of AC-III mRNA, and enhanced cAMP generation in islets from the spontaneously diabetic GK rat model of type 2 diabetes. Diabetes 47(3): 498-504
Newburger, P.E.; Skalnik, D.G.; Hopkins, P.J.; Eklund, E.A.; Curnutte, J.T. 1994: Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558. Journal of Clinical Investigation 94(3): 1205-1211
Borst, D.W.; Betley, M.J. 1993: Mutations in the promoter spacer region and early transcribed region increase expression of staphylococcal enterotoxin A. Infection and Immunity 61(12): 5421-5425
Park, J.; Morrow, C.D. 1993: Mutations in the protease gene of human immunodeficiency virus type 1 affect release and stability of virus particles. Virology 194(2): 843-850
Baksa, K.; Morawietz, H.; Dombrádi, V.; Axton, M.; Taubert, H.; Szabó, G.; Török, I.; Udvardy, A.; Gyurkovics, H.; Szöör, B. 1993: Mutations in the protein phosphatase 1 gene at 87B can differentially affect suppression of position-effect variegation and mitosis in Drosophila melanogaster. Genetics 135(1): 117-125
Inoue, K.; Osaka, H.; Kawanishi, C.; Sugiyama, N.; Ishii, M.; Sugita, K.; Yamada, Y.; Kosaka, K. 1997: Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease. Neurology 48(1): 283-285
Starkova, N.N.; Koroleva, E.P.; Rumsh, L.D.; Ginodman, L.M.; Rotanova, T.V. 1998: Mutations in the proteolytic domain of Escherichia coli protease Lon impair the ATPase activity of the enzyme. FEBS Letters 422(2): 218-220
Deybach, J.C.; Puy, H.; Robréau, A.M.; Lamoril, J.; Da Silva, V.; Grandchamp, B.; Nordmann, Y. 1996: Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Human Molecular Genetics 5(3): 407-410
Thöny, B.; Neuheiser, F.; Kierat, L.; Rolland, M.O.; Guibaud, P.; Schlüter, T.; Germann, R.; Heidenreich, R.A.; Duran, M.; de Klerk, J.B.; Ayling, J.E.; Blau, N. 1998: Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Human Genetics 103(2): 162-167
Haynes, J.I.; Chang, D.; Consigli, R.A.; Spooner, B.S. 1993: Mutations in the putative calcium-binding domain of polyomavirus VP1 affect capsid assembly. Journal of Virology 67(5): 2486-2495
Dupuis, M.; Peitsch, M.C.; Hamann, U.; Stanley, K.K.; Tschopp, J. 1993: Mutations in the putative lipid-interaction domain of complement C9 result in defective secretion of the functional protein. Molecular Immunology 30(1): 95-100
Hipper, A.; Mall, M.; Greger, R.; Kunzelmann, K. 1995: Mutations in the putative pore-forming domain of CFTR do not change anion selectivity of the cAMP activated Cl- conductance. Febs Letters 374(3): 312-316
Lenzner, C.; Nürnberg, P.; Thiele, B.J.; Reis, A.; Brabec, V.; Sakalova, A.; Jacobasch, G. 1994: Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia. Blood 83(10): 2817-2822
Tse, A.; Brigle, K.; Taylor, S.M.; Moran, R.G. 1998: Mutations in the reduced folate carrier gene which confer dominant resistance to 5,10-dideazatetrahydrofolate. Journal of Biological Chemistry 273(40): 25953-25960
Kelsell, R.E.; Gregory-Evans, K.; Payne, A.M.; Perrault, I.; Kaplan, J.; Yang, R.B.; Garbers, D.L.; Bird, A.C.; Moore, A.T.; Hunt, D.M. 1998: Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Human Molecular Genetics 7(7): 1179-1184
Kato, M.V.; Ishizaki, K.; Toguchida, J.; Kaneko, A.; Takayama, J.; Tanooka, H.; Kato, T.; Shimizu, T.; Sasaki, M.S. 1994: Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma. Human Mutation 3(1): 44-51
Ito, T.; Hiramatsu, K.; Ohshita, Y.; Yokota, T. 1993: Mutations in the rfbT gene are responsible for the Ogawa to inaba serotype conversion in Vibrio cholerae O1. Microbiology and Immunology 37(4): 281-288
McLean, W.H.; Eady, R.A.; Dopping-Hepenstal, P.J.; McMillan, J.R.; Leigh, I.M.; Navsaria, H.A.; Higgins, C.; Harper, J.I.; Paige, D.G.; Morley, S.M. 1994: Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). Journal of Investigative Dermatology 102(1): 24-30
Maguire, B.A.; Wild, D.G. 1997: Mutations in the rpmBG operon of Escherichia coli that affect ribosome assembly. Journal of Bacteriology 179(8): 2486-2493
Kim, B.J.; Kim, S.Y.; Park, B.H.; Lyu, M.A.; Park, I.K.; Bai, G.H.; Kim, S.J.; Cha, C.Y.; Kook, Y.H. 1997: Mutations in the rpoB gene of Mycobacterium tuberculosis that interfere with PCR-single-strand conformation polymorphism analysis for rifampin susceptibility testing. Journal of Clinical Microbiology 35(2): 492-494
Duggan, D.J.; Gorospe, J.R.; Fanin, M.; Hoffman, E.P.; Angelini, C. 1997: Mutations in the sarcoglycan genes in patients with myopathy. New England Journal of Medicine 336(9): 618-624
Iida-Klein, A.; Guo, J.; Takemura, M.; Drake, M.T.; Potts, J.T.; Abou-Samra, A.; Bringhurst, F.R.; Segre, G.V. 1997: Mutations in the second cytoplasmic loop of the rat parathyroid hormone (PTH)/PTH-related protein receptor result in selective loss of PTH-stimulated phospholipase C activity. Journal of Biological Chemistry 272(11): 6882-6889
Powell, W.; Reines, D. 1996: Mutations in the second largest subunit of RNA polymerase II cause 6-azauracil sensitivity in yeast and increased transcriptional arrest in vitro. Journal of Biological Chemistry 271(12): 6866-6873
van den Heuvel, M.; Harryman-Samos, C.; Klingensmith, J.; Perrimon, N.; Nusse, R. 1993: Mutations in the segment polarity genes wingless and porcupine impair secretion of the wingless protein. EMBO Journal 12(13): 5293-5302
Ma, J.F.; Grant, G.; Melera, P.W. 1997: Mutations in the sixth transmembrane domain of P-glycoprotein that alter the pattern of cross-resistance also alter sensitivity to cyclosporin A reversal. Molecular Pharmacology 51(6): 922-930
Flachmann, R.; Zhu, G.; Jensen, R.G.; Bohnert, H.J. 1997: Mutations in the small subunit of ribulose-1,5-bisphosphate carboxylase/ oxygenase increase the formation of the misfire product xylulose-1,5-bisphosphate. Plant Physiology 114(1): 131-136
Rudner, D.Z.; Kanaar, R.; Breger, K.S.; Rio, D.C. 1996: Mutations in the small subunit of the Drosophila U2AF splicing factor cause lethality and developmental defects. Proceedings of the National Academy of Sciences of the United States of America 93(19): 10333-10337
Nestorowicz, A.; Wilson, B.A.; Schoor, K.P.; Inoue, H.; Glaser, B.; Landau, H.; Stanley, C.A.; Thornton, P.S.; Clement, J.P.; Bryan, J.; Aguilar-Bryan, L.; Permutt, M.A. 1996: Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Human Molecular Genetics 5(11): 1813-1822
Thomas, P.M.; Cote, G.J.; Wohllk, N.; Haddad, B.; Mathew, P.M.; Rabl, W.; Aguilar-Bryan, L.; Gagel, R.F.; Bryan, J. 1995: Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 268(5209): 426-429
Gilchrist, E.J.; Moerman, D.G. 1992: Mutations in the sup-38 gene of Caenorhabditis elegans suppress muscle-attachment defects in unc-52 mutants. Genetics 132(2): 431-442
Murialdo, H.; Tzamtzis, D.; Berrú, M.; Fife, W.L.; Becker, A. 1997: Mutations in the terminase genes of bacteriophage lambda that bypass the necessity for FI. Molecular Microbiology 24(5): 937-952
Pulkkinen, L.; Christiano, A., M.; Airenne, T.; Haakana, H.; Tryggvason, K.; Uitto, J. 1994: Mutations in the the gamma-2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nature Genetics 6(3): 293-298
Lyles, M.M.; Gilbert, H.F. 1994: Mutations in the thioredoxin sites of protein disulfide isomerase reveal functional nonequivalence of the N- and C-terminal domains. Journal of Biological Chemistry 269(49): 30946-30952
Oldridge, M.; Wilkie, A.O.; Slaney, S.F.; Poole, M.D.; Pulleyn, L.J.; Rutland, P.; Hockley, A.D.; Wake, M.J.; Goldin, J.H.; Winter, R.M. 1995: Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. Human Molecular Genetics 4(6): 1077-1082
Moriyama, K.; Takada, T.; Tsutsumi, Y.; Fukada, K.; Ishibashi, H.; Niho, Y.; Maeda, Y. 1994: Mutations in the transcriptional regulatory region of the precore and core/pregenome of a hepatitis B virus with defective HBeAg production. Fukuoka Igaku Zasshi 85(11): 314-322
Shiang, R.; Thompson, L.M.; Zhu, Y.Z.; Church, D.M.; Fielder, T.J.; Bocian, M.; Winokur, S.T.; Wasmuth, J.J. 1994: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of Dwarfism, achondroplasia. Cell 78(2): 335-342
O'Gara, J.P.; Dunican, L.K. 1995: Mutations in the trpD gene of Corynebacterium glutamicum confer 5-methyltryptophan resistance by encoding a feedback-resistant anthranilate phosphoribosyltransferase. Applied and Environmental Microbiology 61(12): 4477-4479
Andersson, M.; Jönsson, M.; Nielsen, L.L.; Vyberg, M.; Visfeldt, J.; Storm, H.H.; Wallin, H. 1995: Mutations in the tumor suppressor gene p53 in human liver cancer induced by alpha-particles. Cancer Epidemiology Biomarkers and Prevention: a Publication of the American Association for Cancer Research Cosponsored by the American Society of Preventive Oncology 4(7): 765-770
Yang, J.; Camakaris, H.; Pittard, A.J. 1993: Mutations in the tyrR gene of Escherichia coli which affect TyrR-mediated activation but not TyrR-mediated repression. Journal of Bacteriology 175(19): 6372-6375
Harada, S.; Hori, I.; Yamamoto, H.; Hosono, R. 1994: Mutations in the unc-41 gene cause elevation of acetylcholine levels. Journal of Neurochemistry 63(2): 439-446
Kurata, N.; Akiyama, H.; Hosoya, H.; Aoki, H.; Ishikawa, K.; Marunouchi, T. 1995: Mutations in the v-mos gene abolish its ability to induce differentiation but not transformation. European Journal of Cell Biology 68(1): 55-61
Vargas-Poussou, R.; Forestier, L.; Dautzenberg, M.D.; Niaudet, P.; Déchaux, M.; Antignac, C. 1997: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. Journal of the American Society of Nephrology: Jasn 8(12): 1855-1862
Rosenthal, W.; Seibold, A.; Antaramian, A.; Gilbert, S.; Birnbaumer, M.; Bichet, D.G.; Arthus, M.F.; Lonergan, M. 1994: Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant. Cellular and Molecular Biology 40(3): 429-436
Oluwatosin, Y.E.; Kane, P.M. 1998: Mutations in the yeast KEX2 gene cause a Vma(-)-like phenotype: a possible role for the Kex2 endoprotease in vacuolar acidification. Molecular and Cellular Biology 18(3): 1534-1543
Piruat, J.I.; Aguilera, A. 1996: Mutations in the yeast SRB2 general transcription factor suppress hpr1-induced recombination and show defects in DNA repair. Genetics 143(4): 1533-1542
Gueckel, R.; Enenkel, C.; Wolf, D.H.; Hilt, W. 1998: Mutations in the yeast proteasome beta-type subunit Pre3 uncover position-dependent effects on proteasomal peptidase activity and in vivo function. Journal of Biological Chemistry 273(31): 19443-19452
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Fournier, B.; Hooper, D.C. 1998: Mutations in topoisomerase IV and DNA gyrase of Staphylococcus aureus: novel pleiotropic effects on quinolone and coumarin activity. Antimicrobial Agents and ChemoTherapy 42(1): 121-128
Pfau, J.D.; Taylor, R.K. 1998: Mutations in toxR and toxS that separate transcriptional activation from DNA binding at the cholera toxin gene promoter. Journal of Bacteriology 180(17): 4724-4733
Hatfield, L.; Beelman, C.A.; Stevens, A.; Parker, R. 1996: Mutations in trans-acting factors affecting mRNA decapping in Saccharomyces cerevisiae. Molecular and Cellular Biology 16(10): 5830-5838
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Gunsalus, K.C.; Bonaccorsi, S.; Williams, E.; Verni, F.; Gatti, M.; Goldberg, M.L. 1995: Mutations in twinstar, a Drosophila gene encoding a cofilin/ADF homologue, result in defects in centrosome migration and cytokinesis. Journal of Cell Biology 131(5): 1243-1259
Milne, G.T.; Jin, S.; Shannon, K.B.; Weaver, D.T. 1996: Mutations in two Ku homologs define a DNA end-joining repair pathway in Saccharomyces cerevisiae. Molecular and Cellular Biology 16(8): 4189-4198
Petit, F.; Merah, M.; Monnier, C.; Guespin-Michel, J.F. 1993: Mutations in two new loci that impair both extracellular protein production and development in Myxococcus xanthus. Journal of Bacteriology 175(13): 4239-4244
Sen, I.; Kasturi, S.; Abdul Jabbar, M.; Sen, G.C. 1993: Mutations in two specific residues of testicular angiotensin-converting enzyme change its catalytic properties. Journal of Biological Chemistry 268(34): 25748-25754
Prockop, D.J.; Colige, A.; Helminen, H.; Khillan, J.S.; Pereira, R.; Vandenberg, P. 1993: Mutations in type 1 procollagen that cause osteogenesis imperfecta: effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies. Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research 8(Suppl 2): S489-S492
Chappell, J.D.; Gunn, V.L.; Wetzel, J.D.; Baer, G.S.; Dermody, T.S. 1997: Mutations in type 3 reovirus that determine binding to sialic acid are contained in the fibrous tail domain of viral attachment protein sigma1. Journal of Virology 71(3): 1834-1841
Catling, A.D.; Fincham, V.J.; Frame, M.C.; Haefner, B.; Wyke, J.A. 1994: Mutations in v-Src SH3 and catalytic domains that jointly confer temperature-sensitive transformation with minimal temperature-dependent changes in cellular tyrosine phosphorylation. Journal of Virology 68(7): 4392-4399
Xing, Y.; Fikes, J.D.; Guarente, L. 1993: Mutations in yeast HAP2/HAP3 define a hybrid CCAAT box binding domain. EMBO Journal 12(12): 4647-4655
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Synetos, D.; Frantziou, C.P.; Alksne, L.E. 1996: Mutations in yeast ribosomal proteins S28 and S4 affect the accuracy of translation and alter the sensitivity of the ribosomes to paromomycin. Biochimica Et Biophysica Acta 1309(1-2): 156-166
Plano, G.V.; Straley, S.C. 1995: Mutations in yscC, yscD, and yscG prevent high-level expression and secretion of V antigen and Yops in Yersinia pestis. Journal of Bacteriology 177(13): 3843-3854
Kamiya, H.; Kasai, H. 1997: Mutations induced by 2-hydroxyadenine on a shuttle vector during leading and lagging strand syntheses in mammalian cells. Biochemistry 36(37): 11125-11130
Costa, N.D.; Thacker, J. 1996: Mutations induced by DNA double-strand breaks: the influence of genomic site. Somatic Cell and Molecular Genetics 22(4): 249-259
Melchior, W.B.; Marques, M.M.; Beland, F.A. 1994: Mutations induced by aromatic amine DNA adducts in pBR322. Carcinogenesis 15(5): 889-899
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Braun, J.E.; Westmijze, E.J.; Lafleur, M.V.; Retèl, J. 1996: Mutations induced by gamma-irradiation of M13 bacteriophages containing single-stranded DNA. International Journal of Radiation Biology 70(4): 459-465
Mudipalli, A.; Maccubbin, A.E.; Nadadur, S.S.; Struck, R.F.; Gurtoo, H.L. 1997: Mutations induced by monofunctional and bifunctional phosphoramide mustards in supF tRNA gene. Mutation Research 381(1): 49-57
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Hioe, C.E.; McKinney, D.M.; Frelinger, J.A.; McMillan, M. 1994: Mutations inside but not outside the peptide binding cleft of the H-2 Ld molecule affect CTL recognition and binding of the nucleoprotein peptide from the lymphocytic choriomeningitis virus. Immunogenetics 40(3): 222-229
Natoli, F.; Crowley, M.R.; Asch, H.L.; Stoler, D.L.; Asch, B.B. 1996: Mutations involving the endogenous ecotropic murine leukemia virus in primary mammary carcinomas of BALB/c mice. Cancer Letters 99(1): 121-127
Mundlos, S.; Otto, F.; Mundlos, C.; Mulliken, J.B.; Aylsworth, A.S.; Albright, S.; Lindhout, D.; Cole, W.G.; Henn, W.; Knoll, J.H.; Owen, M.J.; Mertelsmann, R.; Zabel, B.U.; Olsen, B.R. 1997: Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89(5): 773-779
Shukla, D.; Matsumura, P. 1995: Mutations leading to altered CheA binding cluster on a face of CheY. Journal of Biological Chemistry 270(41): 24414-24419
Baptista, M.; Depardieu, F.; Reynolds, P.; Courvalin, P.; Arthur, M. 1997: Mutations leading to increased levels of resistance to glycopeptide antibiotics in VanB-type enterococci. Molecular Microbiology 25(1): 93-105
Dickson, B.J.; van der Straten, A.; Dominguez, M.; Hafen, E. 1996: Mutations Modulating Raf signaling in Drosophila eye development. Genetics 142(1): 163-171
Maleki, S.; Cederberg, H.; Rannug, U. 1997: Mutations occurring at the human minisatellite MS1 integrated in haploid yeast are similar to MS1 mutations in humans. Molecular and General Genetics: Mgg 254(1): 37-42
Ru Tao, Zhu Li Wei; Li Ke Min 1997: Mutations of APC gene in MCR in human colorectal carcinoma. Zhongguo Zhongliu Linchuang 24(3): 193-196
Shen, L.; Xia, H.; Bhowmick, N.; Narayan, P.; Puett, D. 1996: Mutations of Arg68 of the human chorionic gonadotrophin beta subunit lead to reduced secretion. Journal of Molecular Endocrinology 17(3): 257-262
Yoshitaka, T.; Matsubara, N.; Ikeda, M.; Tanino, M.; Hanafusa, H.; Tanaka, N.; Shimizu, K. 1996: Mutations of E2F-4 trinucleotide repeats in colorectal cancer with microsatellite instability. Biochemical and Biophysical Research Communications 227(2): 553-557
Papadopoulos, N.; Nicolaides, N.C.; Liu, B.; Parsons, R.; Lengauer, C.; Palombo, F.; D'Arrigo, A.; Markowitz, S.; Willson, J.K.; Kinzler, K.W. 1995: Mutations of GTBP in genetically unstable cells. Science 268(5219): 1915-1917
Piubelli, L.; Aliverti, A.; Bellintani, F.; Zanetti, G. 1996: Mutations of Glu92 in ferredoxin I from spinach leaves produce proteins fully functional in electron transfer but less efficient in supporting NADP+ photoreduction. European Journal of Biochemistry 236(2): 465-469
Majima, T.; Tsujiuchi, T.; Tsutsumi, M.; Tsunoda, T.; Konishi, Y. 1997: Mutations of K-ras but not p53 genes in biliary duct and pancreatic duct carcinomas induced in hamsters by cholecystoduodenostomy with dissection of the common duct followed by N-nitrosobis(2-oxopropyl)amine. Cancer Letters 118(1): 47-53
Huber, M.; Rettler, I.; Bernasconi, K.; Frenk, E.; Lavrijsen, S.P.; Ponec, M.; Bon, A.; Lautenschlager, S.; Schorderet, D.F.; Hohl, D. 1995: Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis. Science 267(5197): 525-528
Morrin, M.; Kelly, M.; Barrett, N.; Delaney, P. 1994: Mutations of Ki-ras and p53 genes in colorectal cancer and their prognostic significance. Gut 35(11): 1627-1631
Kuo, M.Y.; Jeng, J.H.; Chiang, C.P.; Hahn, L.J. 1994: Mutations of Ki-ras oncogene codon 12 in betel quid chewing-related human oral squamous cell carcinoma in Taiwan. Journal of Oral Pathology and Medicine: Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 23(2): 70-74
Riley, D.J.; Liu, C.Y.; Lee, W.H. 1997: Mutations of N-terminal regions render the retinoblastoma protein insufficient for functions in development and tumor suppression. Molecular and Cellular Biology 17(12): 7342-7352
Wang, L.; Zhu, D.; Zhang, C.; Mao, X.; Wang, G.; Mitra, S.; Li, B.F.; Wang, X.; Wu, M. 1997: Mutations of O6-methylguanine-DNA methyltransferase gene in esophageal cancer tissues from Northern China. International Journal of Cancer 71(5): 719-723
Zong, C.S.; Chan, J.L.; Yang, S.K.; Wang, L.H. 1997: Mutations of Ros differentially effecting signal transduction pathways leading to cell growth versus transformation. Journal of Biological Chemistry 272(3): 1500-1506
Beckert, V.; Dettmer, R.; Bernhardt, R. 1994: Mutations of tyrosine 82 in bovine adrenodoxin that affect binding to cytochromes P45011A1 and P45011B1 but not electron transfer. Journal of Biological Chemistry 269(4): 2568-2573
Leach, F.S.; Nicolaides, N.C.; Papadopoulos, N.; Liu, B.; Jen, J.; Parsons, R.; Peltomäki, P.; Sistonen, P.; Aaltonen, L.A.; Nyström-Lahti, M. 1993: Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75(6): 1215-1225
Nakano, T.; Okaichi, K.; Harada, K.; Matsumoto, H.; Kimura, R.; Yamamoto, K.; Akasaka, S.; Ohnishi, T. 1995: Mutations of a shuttle vector plasmid, pZ189, in Escherichia coli induced by boron neutron captured beam (BNCB) containing alpha-particles. Mutation Research 336(2): 153-159
Dubreuil, R.R.; Frankel, J.; Wang, P.; Howrylak, J.; Kappil, M.; Grushko, T.A. 1998: Mutations of alpha spectrin and labial block cuprophilic cell differentiation and acid secretion in the middle midgut of Drosophila larvae. Developmental Biology 194(1): 1-11
Morell, M.K.; Paul, K.; O'Shea, N.J.; Kane, H.J.; Andrews, T.J. 1994: Mutations of an active site threonyl residue promote beta elimination and other side reactions of the enediol intermediate of the ribulosebisphosphate carboxylase reaction. Journal of Biological Chemistry 269(11): 8091-8098
Cabral, D.F.; Maciel-Guerra, A.T.; Hackel, C. 1998: Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism. Brazilian Journal of Medical and Biological Research 31(6): 775-778
Sultan, C.; Lumbroso, S.; Poujol, N.; Belon, C.; Boudon, C.; Lobaccaro, J.M. 1993: Mutations of androgen receptor gene in androgen insensitivity syndromes. Journal of Steroid Biochemistry and Molecular Biology 46(5): 519-530
Schmalzbauer, E.; Strack, B.; Dannull, J.; Guehmann, S.; Moelling, K. 1996: Mutations of basic amino acids of NCp7 of human immunodeficiency virus type 1 affect RNA binding in vitro. Journal of Virology 70(2): 771-777
Yoshimura, T.; Satake, M.; Ohnishi, A.; Tsutsumi, Y.; Fujikura, Y. 1998: Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression. Journal of Neuroscience Research 51(2): 154-161
Gu, J.; Parthasarathi, S.; Varela-Echavarría, A.; Ron, Y.; Dougherty, J.P. 1995: Mutations of conserved cysteine residues in the CWLC motif of the oncoretrovirus SU protein affect maturation and translocation. Virology 206(2): 885-893
Zito, F.; Kuras, R.; Choquet, Y.; Kössel, H.; Wollman, F.A. 1997: Mutations of cytochrome b6 in Chlamydomonas reinhardtii disclose the functional significance for a proline to leucine conversion by petB editing in maize and tobacco. Plant Molecular Biology 33(1): 79-86
Williams, A.W.; Yamaguchi, S.; Togashi, F.; Aizawa, S.I.; Kawagishi, I.; Macnab, R.M. 1996: Mutations in fliK and flhB affecting flagellar hook and filament assembly in Salmonella typhimurium. Journal of Bacteriology 178(10): 2960-2970
Huhtaniemi, I.T.; Aittomäki, K. 1998: Mutations of follicle-stimulating hormone and its receptor: effects on gonadal function. European Journal of Endocrinology 138(5): 473-481
Georgi-Geisberger, P.; Berns, H.; Loncarevic, I.F.; Yu, Z.Y.; Tang, Z.Y.; Zentgraf, H.; Schröder, C.H. 1992: Mutations on free and integrated hepatitis B virus DNA in a hepatocellular carcinoma: footprints of homologous recombination. Oncology 49(5): 386-395
Weaver, T.; Lees, M.; Banaszak, L. 1997: Mutations of fumarase that distinguish between the active site and a nearby dicarboxylic acid binding site. Protein Science: a Publication of the Protein Society 6(4): 834-842
Wick, M.J.; Mihic, S.J.; Ueno, S.; Mascia, M.P.; Trudell, J.R.; Brozowski, S.J.; Ye, Q.; Harrison, N.L.; Harris, R.A. 1998: Mutations of gamma-aminobutyric acid and glycine receptors change alcohol cutoff: evidence for an alcohol receptor?. Proceedings of the National Academy of Sciences of the United States of America 95(11): 6504-6509
Suzuki, H.; Sata, M.; Sasaki, M.; Murashima, S.; Akiyoshi, F.; Noguchi, S.; Tanikawa, K. 1998: Mutations of glucocorticoid responsive element of HBV DNA. Kurume Medical Journal 45(2): 171-174
Khorsi, H.; Castelain, S.; Wyseur, A.; Izopet, J.; Canva, V.; Rombout, A.; Capron, D.; Capron, J.P.; Lunel, F.; Stuyver, L.; Duverlie, G. 1997: Mutations of hepatitis C virus 1b NS5A 2209-2248 amino acid sequence do not predict the response to recombinant interferon-alfa therapy in French patients. Journal of Hepatology 27(1): 72-77
Huang, Y.; Beeser, S.; Guillemette, J.G.; Storms, R.K.; Kornblatt, J.A. 1994: Mutations of iso-1-cytochrome c at positions 13 and 90. Separate effects on physical and functional properties. European Journal of Biochemistry 223(1): 155-160
Bonifas, J.M.; Matsumura, K.; Chen, M.A.; Berth-Jones, J.; Hutchison, P.E.; Zloczower, M.; Fritsch, P.O.; Epstein, E.H. 1994: Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. Journal of Investigative Dermatology 103(4): 474-477
Moorjani, S.; Roy, M.; Torres, A.; Bétard, C.; Gagné, C.; Lambert, M.; Brun, D.; Davignon, J.; Lupien, P. 1993: Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia. Lancet 341(8856): 1303-1306
Turner, P.R.; Bambino, T.; Nissenson, R.A. 1996: Mutations of neighboring polar residues on the second transmembrane helix disrupt signaling by the parathyroid hormone receptor. Molecular Endocrinology 10(2): 132-139
Dragon, F.; Spickler, C.; Pinard, R.; Carrière, J.; Brakier-Gringas, L. 1996: Mutations of non-canonical base-pairs in the 3' major domain of Escherichia coli 16 S ribosomal RNA affect the initiation and elongation of protein synthesis. Journal of Molecular Biology 259(2): 207-215
Miller-Martini, D.M.; Chirgwin, J.M.; Horowitz, P.M. 1994: Mutations of noncatalytic sulfhydryl groups influence the stability, folding, and oxidative susceptibility of rhodanese. Journal of Biological Chemistry 269(5): 3423-3428
Matsumura, Y.; Nishigori, C.; Yagi, T.; Imamura, S.; Takebe, H. 1998: Mutations of p16 and p15 tumor suppressor genes and replication errors contribute independently to the pathogenesis of sporadic malignant melanoma. Archives of Dermatological Research 290(4): 175-180
Yoshida, S.; Todoroki, T.; Ichikawa, Y.; Hanai, S.; Suzuki, H.; Hori, M.; Fukao, K.; Miwa, M.; Uchida, K. 1995: Mutations of p16Ink4/CDKN2 and p15Ink4B/MTS2 genes in biliary tract cancers. Cancer Research 55(13): 2756-2760
Huang, C.L.; Taki, T.; Adachi, M.; Konishi, T.; Higashiyama, M.; Kinoshita, M.; Hadama, T.; Miyake, M. 1998: Mutations of p53 and K-ras genes as prognostic factors for non-small cell lung cancer. International Journal of Oncology 12(3): 553-563
Paquette, R.L.; Lee, Y.Y.; Wilczynski, S.P.; Karmakar, A.; Kizaki, M.; Miller, C.W.; Koeffler, H.P. 1993: Mutations of p53 and human papillomavirus infection in cervical carcinoma. Cancer 72(4): 1272-1280
Mayall, F.; Jacobson, G.; Wilkins, R.; Chang, B. 1998: Mutations of p53 gene can be detected in the plasma of patients with large bowel carcinoma. Journal of Clinical Pathology 51(8): 611-613
Hsia, C.C.; Kleiner, D.E.; Axiotis, C.A.; Di Bisceglie, A.; Nomura, A.M.; Stemmermann, G.N.; Tabor, E. 1992: Mutations of p53 gene in hepatocellular carcinoma: roles of hepatitis B virus and aflatoxin contamination in the diet. Journal of the National Cancer Institute 84(21): 1638-1641
Ishioka, C.; Suzuki, T.; Kanamaru, R. 1992: Mutations of p53 gene in human colorectal tumor in Japan: molecular epidemiological aspects. Tohoku Journal of Experimental Medicine 167(3): 243-245
Schneider, P.M.; Casson, A.G.; Levin, B.; Garewal, H.S.; Hoelscher, A.H.; Becker, K.; Dittler, H.J.; Cleary, K.R.; Troster, M.; Siewert, J.R.; Roth, J.A. 1996: Mutations of p53 in Barrett's esophagus and Barrett's cancer: A prospective study of ninety-eight cases. Journal of Thoracic and Cardiovascular Surgery 111(2): 323
Takeuchi, S.; Bartram, C.R.; Ludwig, R.; Royer-Pokora, B.; Schneider, S.; Imamura, J.; Koeffler, H.P. 1995: Mutations of p53 in Wilms' tumors. Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology Inc 8(5): 483-487
Yokoyama, N.; Hitomi, J.; Watanabe, H.; Ajioka, Y.; Pruyas, M.; Serra, I.; Shirai, Y.; Hatakeyama, K. 1998: Mutations of p53 in gallbladder carcinomas in high-incidence areas of Japan and Chile. Cancer Epidemiology Biomarkers and Prevention: a Publication of the American Association for Cancer Research Cosponsored by the American Society of Preventive Oncology 7(4): 297-301
Naka, N.; Tomita, Y.; Nakanishi, H.; Araki, N.; Hongyo, T.; Ochi, T.; Aozasa, K. 1997: Mutations of p53 tumor-suppressor gene in angiosarcoma. International Journal of Cancer 71(6): 952-955
Mazaki, T.; Ishii, Y.; Fujii, M.; Iwai, S.; Ishikawa, K. 1996: Mutations of p53, E-cadherin, alpha- and beta-catenin genes and tyrosine phosphorylation of beta-catenin in human gastric carcinomas. International Journal of Oncology 9(3): 579-583
Bowman, E.J.; O'Neill, F.J.; Bowman, B.J. 1997: Mutations of pma-1, the gene encoding the plasma membrane H+-ATPase of Neurospora crassa, suppress inhibition of growth by concanamycin A, a specific inhibitor of vacuolar ATPases. Journal of Biological Chemistry 272(23): 14776-14786
Mezes, B.; Amati, P. 1994: Mutations of polyomavirus VP1 allow in vitro growth in undifferentiated cells and modify in vivo tissue replication specificity. Journal of Virology 68(2): 1196-1199
Thumser, A.E.; Voysey, J.; Wilton, D.C. 1996: Mutations of recombinant rat liver fatty acid-binding protein at residues 102 and 122 alter its structural integrity and affinity for physiological ligands. Biochemical Journal 314: 943-949
Schnabel, P.; Böhm, M. 1995: Mutations of signal-transducing G proteins in human disease. Journal of Molecular Medicine 73(5): 221-228
Bruce, S.A.; Murray, K. 1995: Mutations of some critical amino acid residues in the hepatitis B virus surface antigen. Journal of Medical Virology 46(2): 157-161
Hurley, J.K.; Caffrey, M.S.; Markley, J.L.; Cheng, H.; Xia, B.; Chae, Y.K.; Holden, H.M.; Tollin, G. 1995: Mutations of surface residues in Anabaena vegetative and heterocyst ferredoxin that affect thermodynamic stability as determined by guanidine hydrochloride denaturation. Protein Science: a Publication of the Protein Society 4(1): 58-64
Tamura, G.; Maesawa, C.; Suzuki, Y.; Tamada, H.; Satoh, M.; Ogasawara, S.; Kashiwaba, M.; Satodate, R. 1994: Mutations of the APC gene occur during early stages of gastric adenoma development. Cancer Research 54(5): 1149-1151
Ejima, Y.; Sasaki, M.S. 1998: Mutations of the ATM gene detected in Japanese ataxia-telangiectasia patients: Possible preponderance of the two founder mutations 4612del165 and 7883del5. Human Genetics 102(4): 403-408
Alléra, A.; Herbst, M.A.; Griffin, J.E.; Wilson, J.D.; Schweikert, H.U.; McPhaul, M.J. 1995: Mutations of the androgen receptor coding sequence are infrequent in patients with isolated hypospadias. Journal of Clinical Endocrinology and Metabolism 80(9): 2697-2699
Takahashi, H.; Chiu, H.C.; Bandera, C.A.; Behbakht, K.; Liu, P.C.; Couch, F.J.; Weber, B.L.; LiVolsi, V.A.; Furusato, M.; Rebane, B.A.; Cardonick, A.; Benjamin, I.; Morgan, M.A.; King, S.A.; Mikuta, J.J.; Rubin, S.C.; Boyd, J. 1996: Mutations of the BRCA2 gene in ovarian carcinomas. Cancer Research 56(12): 2738-2741
Kobayashi, S.; Iwata, T.; Saito, M.; Iwasaki, R.; Matsumoto, H.; Naritaka, S.; Kono, Y.; Hayashi, Y. 1996: Mutations of the Btk gene in 12 unrelated families with x-linked agammaglobulinemia in Japan. Human Genetics 97(4): 424-430
Seyama, K.; Nonoyama, S.; Gangsaas, I.; Hollenbaugh, D.; Pabst, H.F.; Aruffo, A.; Ochs, H.D. 1998: Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood 92(7): 2421-2434
Nonoyama, S.; Shimadzu, M.; Toru, H.; Seyama, K.; Nunoi, H.; Neubauer, M.; Yata, J.; Och, H.D. 1997: Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. Human Genetics 99(5): 624-627
Koltovaya, N.A.; Arman, I.P.; Devin, A.B. 1998: Mutations of the CDC28 gene and the radiation sensitivity of Saccharomyces cerevisiae. Yeast 14(2): 133-146
Walker, G.J.; Hussussian, C.J.; Flores, J.F.; Glendening, J.M.; Haluska, F.G.; Dracopoli, N.C.; Hayward, N.K.; Fountain, J.W. 1995: Mutations of the CDKN2/p16INK4 gene in Australian melanoma kindreds. Human Molecular Genetics 4(10): 1845-1852
Hahn, S.A.; Bartsch, D.; Schroers, A.; Galehdari, H.; Becker, M.; Ramaswamy, A.; Schwarte-Waldhoff, I.; Maschek, H.; Schmiegel, W. 1998: Mutations of the DPC4/Smad4 gene in biliary tract carcinoma. Cancer Research 58(6): 1124-1126
Duronio, R.J.; Bonnette, P.C.; O'Farrell, P.H. 1998: Mutations of the Drosophila dDP, dE2F, and cyclin E genes reveal distinct roles for the E2F-DP transcription factor and cyclin E during the G1-S transition. Molecular and Cellular Biology 18(1): 141-151
Ohashi, Y.; Minegishi, M.; Fujie, H.; Tsuchiya, S.; Ichinohazama, R.; Konno, T. 1996: Mutations of the Epstein-Barr virus LMP-1 oncogene in a 10-year-old Japanese girl with nasopharyngeal carcinoma. Acta Paediatrica 85(11): 1376-1379
Kulpa, J.; Dixon, J.E.; Pan, G.; Sadowski, P.D. 1993: Mutations of the FLP recombinase gene that cause a deficiency in DNA bending and strand cleavage. Journal of Biological Chemistry 268(2): 1101-1108
Simoni, M. 1998: Mutations of the G protein-coupled receptors of the hypothalamo-pituitary-gonadal axis. Where do we stand?. European Journal of Endocrinology 139(2): 145-147
Kubo, Y.; Urano, Y.; Matsumoto, K.; Ahsan, K.; Arase, S. 1997: Mutations of the INK4a locus in squamous cell carcinomas of human skin. Biochemical and Biophysical Research Communications 232(1): 38-41
Hongyo, T.; Buzard, G.S.; Palli, D.; Weghorst, C.M.; Amorosi, A.; Galli, M.; Caporaso, N.E.; Fraumeni, J.F.; Rice, J.M. 1995: Mutations of the K-ras and p53 genes in gastric adenocarcinomas from a high-incidence region around Florence, Italy. Cancer Research 55(12): 2665-2672
Spritz, R.A.; Holmes, S.A.; Ramesar, R.; Greenberg, J.; Curtis, D.; Beighton, P. 1992: Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. American Journal of Human Genetics 51(5): 1058-1065
Caduff, R.F.; Johnston, C.M.; Frank, T.S. 1995: Mutations of the Ki-ras oncogene in carcinoma of the endometrium. American Journal of Pathology 146(1): 182-188
Wang, X.; Witschi, H. 1995: Mutations of the Ki-ras protooncogene in 3-methylcholanthrene and urethan-induced and butylated hydroxytoluene-promoted lung tumors of strain A/J and SWR mice. Cancer Letters 91(1): 33-39
Arai, M.; Shimizu, S.; Imai, Y.; Nakatsuru, Y.; Oda, H.; Oohara, T.; Ishikawa, T. 1997: Mutations of the Ki-ras, p53 and APC genes in adenocarcinomas of the human small intestine. International Journal of Cancer 70(4): 390-395
Miyauchi, J.; Asada, M.; Sasaki, M.; Tsunematsu, Y.; Kojima, S.; Mizutani, S. 1994: Mutations of the N-ras gene in juvenile chronic myelogenous leukemia. Blood 83(8): 2248-2254
Side, L.E.; Emanuel, P.D.; Taylor, B.; Franklin, J.; Thompson, P.; Castleberry, R.P.; Shannon, K.M. 1998: Mutations of the NF1 gene in children with juvenile myelomonocytic leukemia without clinical evidence of neurofibromatosis, type 1. Blood 92(1): 267-272
Lee, S.T.; Nicholls, R.D.; Bundey, S.; Laxova, R.; Musarella, M.; Spritz, R.A. 1994: Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. New England Journal of Medicine 330(8): 529-534
Xie, J.; Johnson, R.L.; Zhang, X.; Bare, J.W.; Waldman, F.M.; Cogen, P.H.; Menon, A.G.; Warren, R.S.; Chen, L.C.; Scott, M.P.; Epstein, E.H. 1997: Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Research 57(12): 2369-2372
Campion, D.; Flaman, J.M.; Brice, A.; Hannequin, D.; Dubois, B.; Martin, C.; Moreau, V.; Charbonnier, F.; Didierjean, O.; Tardieu, S. 1995: Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. Human Molecular Genetics 4(12): 2373-2377
Sheng, X.M.; Kawamura, M.; Ohnishi, H.; Ida, K.; Hanada, R.; Kojima, S.; Kobayashi, M.; Bessho, F.; Yanagisawa, M.; Hayashi, Y. 1997: Mutations of the RAS genes in childhood acute myeloid leukemia, myelodysplastic syndrome and juvenile chronic myelocytic leukemia. Leukemia Research 21(8): 697-701
Ponder, B.A. 1995: Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2. Cancer Surveys 25: 195-205
Smith, D.P.; Eng, C.; Ponder, B.A. 1994: Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and Hirschsprung disease. Journal of Cell Science. Supplement 18: 43-49
Eng, C.; Mulligan, L.M. 1997: Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease. Human Mutation 9(2): 97-109
Park, W.S.; Moon, Y.W.; Yang, Y.M.; Kim, Y.S.; Kim, Y.D.; Fuller, B.G.; Vortmeyer, A.O.; Fogt, F.; Lubensky, I.A.; Zhuang, Z. 1998: Mutations of the STK11 gene in sporadic gastric carcinoma. International Journal of Oncology 13(3): 601-604
Schwab, K.O.; Söhlemann, P.; Gerlich, M.; Broecker, M.; Petrykowski, W.; Holzapfel, H.P.; Paschke, R.; Grüters, A.; Derwahl, M. 1996: Mutations of the TSH receptor as cause of congenital hyperthyroidism. Experimental and Clinical Endocrinology and Diabetes: Official Journal German Society of Endocrinology and German Diabetes Association 104(Suppl 4): 124-128
Uchida, T.; Saitoh, T.; Shinzawa, H. 1997: Mutations of the X region of hepatitis B virus and their clinical implications. Pathology International 47(4): 183-193
Zeki, K.; Spambalg, D.; Sharifi, N.; Gonsky, R.; Fagin, J.A. 1994: Mutations of the adenomatous polyposis coli gene in sporadic thyroid neoplasms. Journal of Clinical Endocrinology and Metabolism 79(5): 1317-1321
Yashima, K.; Nakamori, S.; Murakami, Y.; Yamaguchi, A.; Hayashi, K.; Ishikawa, O.; Konishi, Y.; Sekiya, T. 1994: Mutations of the adenomatous polyposis coli gene in the mutation cluster region: comparison of human pancreatic and colorectal cancers. International Journal of Cancer 59(1): 43-47
Michalickova, K.; Susic, M.; Willing, M.C.; Wenstrup, R.J.; Cole, W.G. 1998: Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Human Molecular Genetics 7(2): 249-255
Batch, J.A.; Evans, B.A.; Hughes, I.A.; Patterson, M.N. 1993: Mutations of the androgen receptor gene identified in perineal hypospadias. Journal of Medical Genetics 30(3): 198-201
Freudenreich, C.H.; Chang, C.; Kreuzer, K.N. 1998: Mutations of the bacteriophage T4 type II DNA topoisomerase that alter sensitivity to antitumor agent 4'-(9-acridinylamino)methanesulfon-m-anisidide and an antibacterial quinolone. Cancer Research 58(6): 1260-1267
Miyamoto, K.; Katai, K.; Tatsumi, S.; Sone, K.; Segawa, H.; Yamamoto, H.; Taketani, Y.; Takada, K.; Morita, K.; Kanayama, H. 1995: Mutations of the basic amino acid transporter gene associated with cystinuria. Biochemical Journal 310: 951-955
Teich, N.; Mössner, J.; Keim, V. 1998: Mutations of the cationic trypsinogen in hereditary pancreatitis. Human Mutation 12(1): 39-43
Azuma, T.; Motoyama, N.; Fields, L.E.; Loh, D.Y. 1993: Mutations of the chloramphenicol acetyl transferase transgene driven by the immunoglobulin promoter and intron enhancer. International Immunology 5(2): 121-130
Murialdo, H.; Tzamtzis, D. 1997: Mutations of the coat protein gene of bacteriophage lambda that overcome the necessity for the Fl gene; the EFi domain. Molecular Microbiology 24(2): 341-353
Britz-Cunningham, S.H.; Shah, M.M.; Zuppan, C.W.; Fletcher, W.H. 1995: Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. New England Journal of Medicine 332(20): 1323-1329
Arora, K.K.; Cheng, Z.; Catt, K.J. 1997: Mutations of the conserved DRS motif in the second intracellular loop of the gonadotropin-releasing hormone receptor affect expression, activation, and internalization. Molecular Endocrinology 11(9): 1203-1212
Assikis, V.J.; Bilimoria, M.M.; Muenzner, H.D.; Lurain, J.R.; Jordan, V.C. 1996: Mutations of the estrogen receptor in endometrial carcinoma: evidence of an association with high tumor grade. Gynecologic Oncology 63(2): 192-199
Ikegawa, S.; Fukushima, Y.; Isomura, M.; Takada, F.; Nakamura, Y. 1995: Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. Human Genetics 96(3): 309-311
Dawson, I.A.; Roth, S.; Akam, M.; Artavanis-Tsakonas, S. 1993: Mutations of the fizzy locus cause metaphase arrest in Drosophila melanogaster embryos. Development 117(1): 359-376
Treacy, E.P.; Akerman, B.R.; Chow, L.M.; Youil, R.; Bibeau, C.; Lin, J.; Bruce, A.G.; Knight, M.; Danks, D.M.; Cashman, J.R.; Forrest, S.M. 1998: Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. Human Molecular Genetics 7(5): 839-845
Bernard, T.; Gale, R.E.; Evans, J.P.; Linch, D.C. 1998: Mutations of the granulocyte-colony stimulating factor receptor in patients with severe congenital neutropenia are not required for transformation to acute myeloid leukaemia and may be a bystander phenomenon. British Journal of Haematology 101(1): 141-149
Brown, J.C.; Thomson, C.J.; Amyes, S.G. 1996: Mutations of the gyrA gene of clinical isolates of Salmonella typhimurium and three other Salmonella species leading to decreased susceptibilities to 4-quinolone drugs. Journal of Antimicrobial ChemoTherapy 37(2): 351-356
Peleg, L.; Karpati, M.; Gazit, E.; Raas-Rothschild, A.; Goldman, B. 1994: Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews. Biochemical Medicine and Metabolic Biology 52(1): 22-26
Anderson, S.A.; Qiu, M.; Bulfone, A.; Eisenstat, D.D.; Meneses, J.; Pedersen, R.; Rubenstein, J.L. 1997: Mutations of the homeobox genes Dlx-1 and Dlx-2 disrupt the striatal subventricular zone and differentiation of late born striatal neurons. Neuron 19(1): 27-37
Berx, G.; Becker, K.F.; Höfler, H.; van Roy, F. 1998: Mutations of the human E-cadherin (CDH1) gene. Human Mutation 12(4): 226-237
Yeung, K.C.; Stoltzfus, C.M.; Stinski, M.F. 1993: Mutations of the human cytomegalovirus immediate-early 2 protein defines regions and amino acid motifs important in transactivation of transcription from the HIV-1 LTR promoter. Virology 195(2): 786-792
Hahn, H.; Wicking, C.; Zaphiropoulous, P.G.; Gailani, M.R.; Shanley, S.; Chidambaram, A.; Vorechovsky, I.; Holmberg, E.; Unden, A.B.; Gillies, S.; Negus, K.; Smyth, I.; Pressman, C.; Leffell, D.J.; Gerrard, B.; Goldstein, A.M.; Dean, M.; Toftgard, R.; Chenevix-Trench, G.; Wainwright, B.; Bale, A.E. 1996: Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85(6): 841-851
Biebermann, H.; Schöneberg, T.; Krude, H.; Schultz, G.; Gudermann, T.; Grüters, A. 1997: Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. Journal of Clinical Endocrinology and Metabolism 82(10): 3471-3480
Schröder, W.; Wulff, K.; Wehnert, M.; Seidlitz, G.; Herrmann, F.H. 1994: Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). Human Mutation 4(2): 128-131
Chen, J.; Young, F.; Bottaro, A.; Stewart, V.; Smith, R.K.; Alt, F.W. 1993: Mutations of the intronic IgH enhancer and its flanking sequences differentially affect accessibility of the JH locus. EMBO Journal 12(12): 4635-4645
Narcisi, T.M.; Shoulders, C.C.; Chester, S.A.; Read, J.; Brett, D.J.; Harrison, G.B.; Grantham, T.T.; Fox, M.F.; Povey, S.; de Bruin, T.W. 1995: Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. American Journal of Human Genetics 57(6): 1298-1310
Gannon, P.M.; Kumamoto, C.A. 1993: Mutations of the molecular chaperone protein SecB which alter the interaction between SecB and maltose-binding protein. Journal of Biological Chemistry 268(3): 1590-1595
Sainz, J.; Huynh, D.P.; Figueroa, K.; Ragge, N.K.; Baser, M.E.; Pulst, S.M. 1994: Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Human Molecular Genetics 3(6): 885-891
Ionasescu, V.V.; Searby, C.; Ionasescu, R.; Neuhaus, I.M.; Werner, R. 1996: Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Neurology 47(2): 541-544
Malkin, D.; Sexsmith, E.; Yeger, H.; Williams, B.R.; Coppes, M.J. 1994: Mutations of the p53 tumor suppressor gene occur infrequently in Wilms' tumor. Cancer Research 54(8): 2077-2079
Kyritsis, A.P.; Zhang, B.; Zhang, W.; Xiao, M.; Takeshima, H.; Bondy, M.L.; Cunningham, J.E.; Levin, V.A.; Bruner, J. 1996: Mutations of the p16 gene in gliomas. Oncogene 12(1): 63-67
Gaddipati, J.P.; Mcleod, D.G.; Sesterhenn, I.A.; Hussussian, C.J.; Tong, Y.A.; Seth, P.; Dracopoli, N.C.; Moul, J.W.; Srivastava, S. 1997: Mutations of the p16 gene product are rare in prostate cancer. Prostate 30(3): 188-194
Kawamura, M.; Kikuchi, A.; Kobayashi, S.; Hanada, R.; Yamamoto, K.; Horibe, K.; Shikano, T.; Ueda, K.; Hayashi, K.; Sekiya, T. 1995: Mutations of the p53 and ras genes in childhood t(1;19)-acute lymphoblastic leukemia. Blood 85(9): 2546-2552
Oda, H.; Nakatsuru, Y.; Ishikawa, T. 1995: Mutations of the p53 gene and p53 protein overexpression are associated with sarcomatoid transformation in renal cell carcinomas. Cancer Research 55(3): 658-662
Komuro, H.; Hayashi, Y.; Kawamura, M.; Hayashi, K.; Kaneko, Y.; Kamoshita, S.; Hanada, R.; Yamamoto, K.; Hongo, T.; Yamada, M. 1993: Mutations of the p53 gene are involved in Ewing's sarcomas but not in neuroblastomas. Cancer Research 53(21): 5284-5288
Mitsudomi, T.; Oyama, T.; Kusano, T.; Osaki, T.; Nakanishi, R.; Shirakusa, T. 1993: Mutations of the p53 gene as a predictor of poor prognosis in patients with non-small-cell lung cancer. Journal of the National Cancer Institute 85(24): 2018-2023
Ichikawa, A.; Kinoshita, T.; Watanabe, T.; Kato, H.; Nagai, H.; Tsushita, K.; Saito, H.; Hotta, T. 1997: Mutations of the p53 gene as a prognostic factor in aggressive B-cell lymphoma. New England Journal of Medicine 337(8): 529-534
Peng, H.Q.; Hogg, D.; Malkin, D.; Bailey, D.; Gallie, B.L.; Bulbul, M.; Jewett, M.; Buchanan, J.; Goss, P.E. 1993: Mutations of the p53 gene do not occur in testis cancer. Cancer Research 53(15): 3574-3578
Suzuki, Y.; Tamura, G. 1993: Mutations of the p53 gene in carcinomas of the urinary system. Acta Pathologica Japonica 43(12): 745-750
Lin, S.R.; Lee, Y.J.; Tsai, J.H. 1994: Mutations of the p53 gene in human functional adrenal neoplasms. Journal of Clinical Endocrinology and Metabolism 78(2): 483-491
Kondo, K.; Hino, N.; Sasa, M.; Kamamura, Y.; Sakiyama, S.; Tsuyuguchi, M.; Hashimoto, M.; Uyama, T.; Monden, Y. 1997: Mutations of the p53 gene in human lung cancer from chromate-exposed workers. Biochemical and Biophysical Research Communications 239(1): 95-100
Anelli, A.; Anelli, T.F.; Youngson, B.; Rosen, P.P.; Borgen, P.I. 1995: Mutations of the p53 gene in male breast cancer. Cancer 75(9): 2233-2238
Sugimoto, K.; Hirano, N.; Toyoshima, H.; Chiba, S.; Mano, H.; Takaku, F.; Yazaki, Y.; Hirai, H. 1993: Mutations of the p53 gene in myelodysplastic syndrome (MDS) and MDS-derived leukemia. Blood 81(11): 3022-3026
Mori, N.; Hidai, H.; Yokota, J.; Okada, M.; Motoji, T.; Oshimi, K.; Mizoguchi, H. 1995: Mutations of the p53 gene in myelodysplastic syndrome and overt leukemia. Leukemia Research 19(11): 869-875
Eguchi, S.; Kohara, N.; Komuta, K.; Kanematsu, T. 1996: Mutations of the p53 gene in the stool of patients with resectable colorectal cancer. Cancer 77(8 Suppl): 1707-1710
Kiba, T.; Tsuda, H.; Pairojkul, C.; Inoue, S.; Sugimura, T.; Hirohashi, S. 1993: Mutations of the p53 tumor suppressor gene and the ras gene family in intrahepatic cholangiocellular carcinomas in Japan and Thailand. Molecular Carcinogenesis 8(4): 312-318
Mitsudomi, T.; Yatabe, Y.; Koshikawa, T.; Hatooka, S.; Shinoda, M.; Suyama, M.; Sugiura, T.; Ogawa, M.; Takahashi, T. 1997: Mutations of the p53 tumor suppressor gene as clonal marker for multiple primary lung cancers. Journal of Thoracic and Cardiovascular Surgery 114(3): 354-360
Ohgaki, H.; Eibl, R.H.; Schwab, M.; Reichel, M.B.; Mariani, L.; Gehring, M.; Petersen, I.; Höll, T.; Wiestler, O.D.; Kleihues, P. 1993: Mutations of the p53 tumor suppressor gene in neoplasms of the human nervous system. Molecular Carcinogenesis 8(2): 74-80
Rème, T.; Travaglio, A.; Gueydon, E.; Adla, L.; Jorgensen, C.; Sany, J. 1998: Mutations of the p53 tumour suppressor gene in erosive rheumatoid synovial tissue. Clinical and Experimental Immunology 111(2): 353-358
Jeon, S. 1995: Mutations of the pleiohomeotic gene interact with Polycomb group genes during Drosophila adult development. Entomological Research Bulletin 21: 41-50
Dardis, A.; Bergada, I.; Bergada, C.; Rivarola, M.; Belgorosky, A. 1997: Mutations of the steroid 21-hydroxylase gene in an Argentinian population of 36 patients with classical congenital adrenal hyperplasia. Journal of Pediatric Endocrinology and Metabolism: Jpem 10(1): 55-61
Ohue, M.; Tomita, N.; Monden, T.; Miyoshi, Y.; Ohnishi, T.; Izawa, H.; Kawabata, Y.; Sasaki, M.; Sekimoto, M.; Nishisho, I.; Shiozaki, H.; Monden, M. 1996: Mutations of the transforming growth factor beta type II receptor gene and microsatellite instability in gastric cancer. International Journal of Cancer 68(2): 203-206
Lu, S.L.; Akiyama, Y.; Nagasaki, H.; Saitoh, K.; Yuasa, Y. 1995: Mutations of the transforming growth factor-beta type II receptor gene and genomic instability in hereditary nonpolyposis colorectal cancer. Biochemical and Biophysical Research Communications 216(2): 452-457
Akiyama, Y.; Iwanaga, R.; Ishikawa, T.; Sakamoto, K.; Nishi, N.; Nihei, Z.; Iwama, T.; Saitoh, K.; Yuasa, Y. 1996: Mutations of the transforming growth factor-beta type II receptor gene are strongly related to sporadic proximal colon carcinomas with microsatellite instability. Cancer 78(12): 2478-2484
Schmidt, U.; Podar, M.; Stahl, U.; Perlman, P.S. 1996: Mutations of the two-nucleotide bulge of D5 of a group II intron block splicing in vitro and in vivo: phenotypes and suppressor mutations. Rna 2(11): 1161-1172
Tripathi, R.K.; Bundey, S.; Musarella, M.A.; Droetto, S.; Strunk, K.M.; Holmes, S.A.; Spritz, R.A. 1993: Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). American Journal of Human Genetics 53(6): 1173-1179
Gershoni-Baruch, R.; Rosenmann, A.; Droetto, S.; Holmes, S.; Tripathi, R.K.; Spritz, R.A. 1994: Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. American Journal of Human Genetics 54(4): 586-594
Porcellini, A.; Fenzi, G.; Avvedimento, E.V. 1997: Mutations of thyrotropin receptor gene. Journal of Molecular Medicine 75(8): 567-575
Johnson, M.P.; Wainscott, D.B.; Lucaites, V.L.; Baez, M.; Nelson, D.L. 1997: Mutations of transmembrane IV and V serines indicate that all tryptamines do not bind to the rat 5-HT2A receptor in the same manner. Brain Research. Molecular Brain Research 49(1-2): 1-6
Parent, J.L.; Le Gouill, C.; de Brum-Fernandes, A.J.; Rola-Pleszczynski, M.; Stanková, J. 1996: Mutations of two adjacent amino acids generate inactive and constitutively active forms of the human platelet-activating factor receptor. Journal of Biological Chemistry 271(14): 7949-7955
Benhar, I.; Brinkmann, U.; Webber, K.O.; Pastan, I. 1994: Mutations of two lysine residues in the CDR loops of a recombinant immunotoxin that reduce its sensitivity to chemical derivatization. Bioconjugate Chemistry 5(4): 321-326
Gupta, M.; Zhu, C.X.; Tse-Dinh, Y.C. 1994: Mutations of vaccinia virus DNA topoisomerase I that stabilize the cleavage complex. Journal of Biological Chemistry 269(1): 573-578
Zhang, Z.P.; Blombäck, M.; Nyman, D.; Anvret, M. 1993: Mutations of von Willebrand factor gene in families with von Willebrand disease in the Aland Islands. Proceedings of the National Academy of Sciences of the United States of America 90(17): 7937-7940
Morgun, V.V.; Logvinenko, V.F.; Toryanik, V.N. 1996: Mutations of winter wheat induced by radionuclide contamination resulted from Chernobyl catastrophe. Fiziologiya i Biokhimiya Kul'turnykh Rastenii 28(5-6): 291-296
Judd, B.H. 1995: Mutations of zeste that mediate transvection are recessive enhancers of position-effect variegation in Drosophila melanogaster. Genetics 141(1): 245-253
Tomoda, T.; Murata, T.; Arai, K.; Muramatsu, M. 1993: Mutations on 170Glu, a substrate recognition residue in mouse cAMP-dependent protein kinase, generate enzymes with altered substrate affinity and biological functions. Biochimica Et Biophysica Acta 1175(3): 333-342
Lee, M.; Struhl, K. 1995: Mutations on the DNA-binding surface of TATA-binding protein can specifically impair the response to acidic activators in vivo. Molecular and Cellular Biology 15(10): 5461-5469
Gravel, R.A.; Akerman, B.R.; Lamhonwah, A.M.; Loyer, M.; Léon-del-Rio, A.; Italiano, I. 1994: Mutations participating in interallelic complementation in propionic acidemia. American Journal of Human Genetics 55(1): 51-58
Brown, J.C.; Shanahan, P.M.; Jesudason, M.V.; Thomson, C.J.; Amyes, S.G. 1996: Mutations responsible for reduced susceptibility to 4-quinolones in clinical isolates of multi-resistant Salmonella typhi in India. Journal of Antimicrobial ChemoTherapy 37(5): 891-900
Disqué-Kochem, C.; Gerhus, E.; Eichenlaub, R. 1995: Mutations resulting in a defective mini-F replicon in the presence of both origins, orii and oriIi. Plasmid 33(1): 59-64
Byrd, P.J.; McConville, C.M.; Cooper, P.; Parkhill, J.; Stankovic, T.; McGuire, G.M.; Thick, J.A.; Taylor, A.M. 1996: Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia. Human Molecular Genetics 5(1): 145-149
Prendergast, J.A.; Singer, R.A.; Rowley, N.; Rowley, A.; Johnston, G.C.; Danos, M.; Kennedy, B.; Gaber, R.F. 1995: Mutations sensitizing yeast cells to the start inhibitor nalidixic acid. Yeast 11(6): 537-547
Lin, C.-Luan; Lin, C.-Sheng; Tan, S.-Te 1995: Mutations showing specificity for normal growth or Mn(II)-dependent post-exponential-phase cell division in Deinococcus radiodurans. Microbiology (Reading) 141(7): 1707-1714
Nichols, A.F.; Ong, P.; Linn, S. 1996: Mutations specific to the xeroderma pigmentosum group E Ddb- phenotype. Journal of Biological Chemistry 271(40): 24317-24320
Baker, R.E.; Harris, K.; Zhang, K. 1998: Mutations synthetically lethal with cep1 target S. cerevisiae kinetochore components. Genetics 149(1): 73-85
Slusarski, D.C.; Motzny, C.K.; Holmgren, R. 1995: Mutations that alter the timing and pattern of cubitus interruptus gene expression in Drosophila melanogaster. Genetics 139(1): 229-240
Beissinger, M.; Lee, S.C.; Steinbacher, S.; Reinemer, P.; Huber, R.; Yu, M.H.; Seckler, R. 1995: Mutations that stabilize folding intermediates of phage P22 tailspike protein: folding in vivo and in vitro, stability, and structural context. Journal of Molecular Biology 249(1): 185-194
Shirouzu, M.; Koide, H.; Fujita-Yoshigaki, J.; Oshio, H.; Toyama, Y.; Yamasaki, K.; Fuhrman, S.A.; Villafranca, E.; Kaziro, Y.; Yokoyama, S. 1994: Mutations that abolish the ability of Ha-Ras to associate with Raf-1. Oncogene 9(8): 2153-2157
Tai, J.T.; Cohen, S.N. 1994: Mutations that affect regulation of the korB gene of Streptomyces lividans plasmid plJ101 alter plasmid transmission. Molecular Microbiology 12(1): 31-39
Russo, F.D.; Slauch, J.M.; Silhavy, T.J. 1993: Mutations that affect separate functions of OmpR the phosphorylated regulator of porin transcription in Escherichia coli. Journal of Molecular Biology 231(2): 261-273
Derman, A.I.; Prinz, W.A.; Belin, D.; Beckwith, J. 1993: Mutations that allow disulfide bond formation in the cytoplasm of Escherichia coli. Science 262(5140): 1744-1747
Bai, M.; Harfe, B.; Freimuth, P. 1993: Mutations that alter an Arg-Gly-Asp (RGD) sequence in the adenovirus type 2 penton base protein abolish its cell-rounding activity and delay virus reproduction in flat cells. Journal of Virology 67(9): 5198-5205
Zhang, X.K.; Salbert, G.; Lee, M.O.; Pfahl, M. 1994: Mutations that alter ligand-induced switches and dimerization activities in the retinoid X receptor. Molecular and Cellular Biology 14(6): 4311-4323
Hsing, W.; Russo, F.D.; Bernd, K.K.; Silhavy, T.J. 1998: Mutations that alter the kinase and phosphatase activities of the two-component sensor EnvZ. Journal of Bacteriology 180(17): 4538-4546
Boone, C.; Davis, N.G.; Sprague, G.F. 1993: Mutations that alter the third cytoplasmic loop of the a-factor receptor lead to a constitutive and hypersensitive phenotype. Proceedings of the National Academy of Sciences of the United States of America 90(21): 9921-9925
Covitz, K.M.; Panagiotidis, C.H.; Hor, L.I.; Reyes, M.; Treptow, N.A.; Shuman, H.A. 1994: Mutations that alter the transmembrane signalling pathway in an ATP binding cassette (ABC) transporter. EMBO Journal 13(7): 1752-1759
Nouspikel, T.; Clarkson, S.G. 1994: Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. Human Molecular Genetics 3(6): 963-967
McNally, E.M.; Duggan, D.; Gorospe, J.R.; Bönnemann, C.G.; Fanin, M.; Pegoraro, E.; Lidov, H.G.; Noguchi, S.; Ozawa, E.; Finkel, R.S.; Cruse, R.P.; Angelini, C.; Kunkel, L.M.; Hoffman, E.P. 1996: Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Human Molecular Genetics 5(11): 1841-1847
Karpova, T.S.; Lepetit, M.M.; Cooper, J.A. 1993: Mutations that enhance the cap2 null mutant phenotype in Saccharomyces cerevisiae affect the actin cytoskeleton, morphogenesis and pattern of growth. Genetics 135(3): 693-709
O'Rear, J.; Alberti, L.; Harshey, R.M. 1992: Mutations that impair swarming motility in Serratia marcescens 274 include but are not limited to those affecting chemotaxis or flagellar function. Journal of Bacteriology 174(19): 6125-6137
Brown, L.; Elliott, T. 1997: Mutations that increase expression of the rpoS gene and decrease its dependence on hfq function in Salmonella typhimurium. Journal of Bacteriology 179(3): 656-662
Lim, F.; Peabody, D.S. 1994: Mutations that increase the affinity of a translational repressor for RNA. Nucleic Acids Research 22(18): 3748-3752
Cardenas, M.E.; Lim, E.; Heitman, J. 1995: Mutations that perturb cyclophilin a ligand binding pocket confer cyclosporin a resistance in Saccharomyces cerevisiae. Journal of Biological Chemistry 270(36): 20997-21002
Lieberfarb, M.E.; Chu, T.; Wreden, C.; Theurkauf, W.; Gergen, J.P.; Strickland, S. 1996: Mutations that perturb poly(A)-dependent maternal mRNA activation block the initiation of development. Development 122(2): 579-588
Wen, J.Y.; Kumar, N.; Morrison, G.; Rambaldini, G.; Runciman, S.; Rousseau, J.; van der Kooy, D. 1997: Mutations that prevent associative learning in C. elegans. Behavioral Neuroscience 111(2): 354-368
Slack, F.J.; Mueller, J.P.; Sonenshein, A.L. 1993: Mutations that relieve nutritional repression of the Bacillus subtilis dipeptide permease operon. Journal of Bacteriology 175(15): 4605-4614
Da Costa, X.J.; Artz, S.W. 1997: Mutations that render the promoter of the histidine operon of Salmonella typhimurium insensitive to nutrient-rich medium repression and amino acid downshift. Journal of Bacteriology 179(16): 5211-5217
Kotik, M.; Zuber, H. 1993: Mutations that significantly change the stability, flexibility and quaternary structure of the L-lactate dehydrogenase from Bacillus megaterium. European Journal of Biochemistry 211(1-2): 267-280
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