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Section 72

EurekaMag Full Text Articles Chapter 71,857



References:

Wang, Y.; Wang, H-X.; Lai, Y-R.; Sun, Z-M.; Wu, D-P.; Jiang, M.; Liu, D-H.; Xu, K-L.; Liu, Q-F.; Liu, L.; Wang, J-B.; Gao, F.; Ou-Yang, J.; Gao, S-J.; Xu, L-P.; Huang, X-J. 2016: Haploidentical transplant for myelodysplastic syndrome: registry-based comparison with identical sibling transplant. Leukemia 30(10): 2055-2063
Basquiera, A.Lisa.; Berro, M.; Yantorno, Sán.; Castro, Mín.; Requejo, A.; Sorrentino, M.; Sutovsky, D.; Giunta, D.; Palmer, S.; Vitriu, A.; Ferini, G.; Bendek, G.; Szelagowski, M.; Rapán, Mía.Leticia.; Escobar, Nás.Fernandez.; Duarte, P.; Cerutti, A.; Cattaneo, M.; Martinez-Rolón, J.; Jaimovich, G.; Bordone, J.; Milovic, V.; Kusminsky, G.; Arbelbide, J.A. 2020: Haploidentical transplant in adult patients with acute lymphoblastic leukemia in Argentina: a comparison with matched related and unrelated donors. Bone Marrow Transplantation 55(2): 400-408
Xu, L.P.; Zhang, X.H.; Wang, F.R.; Mo, X.D.; Han, T.T.; Han, W.; Chen, Y.H.; Zhang, Y.Y.; Wang, J.Z.; Yan, C.H.; Sun, Y.Q.; Zuo, S.N.; Huang, X.J. 2017: Haploidentical transplantation for pediatric patients with acquired severe aplastic anemia. Bone Marrow Transplantation 52(3): 381-387
Makishima, K.; Obara, N.; Sakamoto, T.; Kato, T.; Kusakabe, M.; Nishikii, H.; Kurita, N.; Yokoyama, Y.; Sakata-Yanagimoto, M.; Hasegawa, Y.; Chiba, S. 2020: Haploidentical transplantation from a related donor as first-line treatment for fulminant aplastic anemia. Japanese Journal of Clinical Hematology 61(10): 1464-1468
Ciceri, F.; Lupo-Stanghellini, M.T.; Korthof, E.T. 2013: Haploidentical transplantation in patients with acquired aplastic anemia. Bone Marrow Transplantation 48(2): 183-185
Yu, S.; Huang, F.; Wang, Y.; Xu, Y.; Yang, T.; Fan, Z.; Lin, R.; Xu, N.; Xuan, L.; Ye, J.; Yu, W.; Sun, J.; Huang, X.; Liu, Q. 2020: Haploidentical transplantation might have superior graft-versus-leukemia effect than HLA-matched sibling transplantation for high-risk acute myeloid leukemia in first complete remission: a prospective multicentre cohort study. Leukemia 34(5): 1433-1443
Bhamidipati, P.K.; DiPersio, J.F.; Stokerl-Goldstein, K.; Rashidi, A.; Gao, F.; Uy, G.L.; Westervelt, P.; Vij, R.; Schroeder, M.A.; Abboud, C.N.; Keller, J.W.; Fehniger, T.A.; Romee, R. 2014: Haploidentical transplantation using G-CSF-mobilized T-cell replete PBSCs and post-transplantation CY after non-myeloablative conditioning is safe and is associated with favorable outcomes. Bone Marrow Transplantation 49(8): 1124-1126
Castagna, L.; Bramanti, S.; Devillier, R.; Sarina, B.; Crocchiolo, R.; Furst, S.; El-Cheikh, J.; Granata, A.; Faucher, C.; Harbi, S.; Morabito, L.; Mariotti, J.; Puvinathan, S.; Weiller, P.J.; Chabannon, C.; Mokart, D.; Carlo-Stella, C.; Bouabdallah, R.; Santoro, A.; Blaise, D. 2017: Haploidentical transplantation with post-infusion cyclophosphamide in advanced Hodgkin lymphoma. Bone Marrow Transplantation 52(5): 683-688
Castagna, L.; Bramanti, S.; Devillier, R.; Sarina, B.; Crocchiolo, R.; Furst, S.; El-Cheikh, J.; Granata, A.; Faucher, C.; Harbi, S.; Morabito, L.; Mariotti, J.; Puvinathan, S.; Weiller, P.J.; Chabannon, C.; Mokart, D.; Carlo-Stella, C.; Bouabdallah, R.; Santoro, A.; Blaise, D. 2017: Haploidentical transplantation with post-infusion cyclophosphamide in advanced Hodgkin lymphoma. Bone Marrow Transplantation 52(5): 797
Bahr, T.L.; Lund, T.; Sando, N.M.; Orchard, P.J.; Miller, W.P. 2016: Haploidentical transplantation with post-transplant cyclophosphamide following reduced-intensity conditioning for osteopetrosis: outcomes in three children. Bone Marrow Transplantation 51(11): 1546-1548
Mohty, M. 2021: Haploidentical transplantation: finally, some light. Blood 137(3): 296-297
Yang, B.; Yu, R.; Cai, L.; Bin Guo; Chen, H.; Zhang, H.; He, P.; Lu, X. 2019: Haploidentical versus matched donor stem cell transplantation for patients with hematological malignancies: a systemic review and meta-analysis. Bone Marrow Transplantation 54(1): 99-122
Singhal, S.; Henslee-Downey, P.J.; Powles, R.; Chiang, K.Y.; Godder, K.; Treleaven, J.; Kulkarni, S.; Van Rhee, F.; Sirohi, B.; Pinkerton, C.R.; Meller, S.; Jovanovic, B.; Mehta, J. 2003: Haploidentical vs autologous hematopoietic stem cell transplantation in patients with acute leukemia beyond first remission. Bone Marrow Transplantation 31(10): 889-895
Shem-Tov, N.; Peczynski, C.; Labopin, M.; Itälä-Remes, M.; Blaise, D.; Labussière-Wallet, Hélène.; Socié, G.; Kröger, N.; Mielke, S.; Afanasyev, B.; Chevallier, P.; Tischer, J.; Helbig, G.; Jindra, P.; Peric, Z.; Giebel, S.; Mohty, M.; Nagler, A. 2020: Haploidentical vs. unrelated allogeneic stem cell transplantation for acute lymphoblastic leukemia in first complete remission: on behalf of the ALWP of the EBMT. Leukemia 34(1): 283-292
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Schultz-Rogers, L.; Masuho, I.; Pinto E Vairo, F.; Schmitz, C.T.; Schwab, T.L.; Clark, K.J.; Gunderson, L.; Pichurin, P.N.; Wierenga, K.; Martemyanov, K.A.; Klee, E.W. 2020: Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder. Molecular Genetics and Genomic Medicine 8(11): E1477
Neumann, M.Anne-Catherine.; Grossmann, D.; Schimpf-Linzenbold, S.; Dayan, D.; Stingl, K.; Ben-Menachem, R.; Pines, O.; Massart, Fçois.; Delcambre, S.; Ghelfi, J.; Bohler, J.; Strom, T.; Kessel, A.; Azem, A.; Schöls, L.; Grünewald, A.; Wissinger, B.; Krüger, R. 2020: Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. Scientific Reports 10(1): 16736
Pohler, E.; Mamai, O.; Hirst, J.; Zamiri, M.; Horn, H.; Nomura, T.; Irvine, A.D.; Moran, B.; Wilson, N.J.; Smith, F.J.D.; Goh, C.S.M.; Sandilands, A.; Cole, C.; Barton, G.J.; Evans, A.T.; Shimizu, H.; Akiyama, M.; Suehiro, M.; Konohana, I.; Shboul, M.; Teissier, S.; Boussofara, L.; Denguezli, M.; Saad, A.; Gribaa, M.; Dopping-Hepenstal, P.J.; McGrath, J.A.; Brown, S.J.; Goudie, D.R.; Reversade, B.; Munro, C.S.; McLean, W.H.Irwin. 2012: Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nature Genetics 44(11): 1272-1276
Novara, F.; Rinaldi, B.; Sisodiya, S.M.; Coppola, A.; Giglio, S.; Stanzial, F.; Benedicenti, F.; Donaldson, A.; Andrieux, J.; Stapleton, R.; Weber, A.; Reho, P.; van Ravenswaaij-Arts, C.; Kerstjens-Frederikse, W.S.; Vermeesch, J.Robert.; Devriendt, K.; Bacino, C.A.; Delahaye, Aée.; Maas, S.M.; Iolascon, A.; Zuffardi, O. 2017: Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European Journal of Human Genetics: Ejhg 25(6): 694-701
Sedic, M.; Skibinski, A.; Brown, N.; Gallardo, M.; Mulligan, P.; Martinez, P.; Keller, P.J.; Glover, E.; Richardson, A.L.; Cowan, J.; Toland, A.E.; Ravichandran, K.; Riethman, H.; Naber, S.P.; Näär, A.M.; Blasco, M.A.; Hinds, P.W.; Kuperwasser, C. 2015: Haploinsufficiency for BRCA1 leads to cell-type-specific genomic instability and premature senescence. Nature Communications 6: 7505
Borg, J.; Papadopoulos, P.; Georgitsi, M.; Gutiérrez, L.; Grech, G.; Fanis, P.; Phylactides, M.; Verkerk, A.J.M.H.; van der Spek, P.J.; Scerri, C.A.; Cassar, W.; Galdies, R.; van Ijcken, W.; Ozgür, Z.; Gillemans, N.; Hou, J.; Bugeja, M.; Grosveld, F.G.; von Lindern, M.; Felice, A.E.; Patrinos, G.P.; Philipsen, S. 2010: Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nature Genetics 42(9): 801-805
Gutmann, D.H.; Loehr, A.; Zhang, Y.; Kim, J.; Henkemeyer, M.; Cashen, A. 1999: Haploinsufficiency for the neurofibromatosis 1 (NF1) tumor suppressor results in increased astrocyte proliferation. Oncogene 18(31): 4450-4459
Abraham, N.; Ma, M.C.; Snow, J.W.; Miners, M.Jill.; Herndier, B.G.; Goldsmith, M.A. 2005: Haploinsufficiency identifies STAT5 as a modifier of IL-7-induced lymphomas. Oncogene 24(33): 5252-5257
Carbonell, A.U.; Cho, C.Hoon.; Tindi, J.O.; Counts, P.A.; Bates, J.C.; Erdjument-Bromage, H.; Cvejic, S.; Iaboni, A.; Kvint, I.; Rosensaft, J.; Banne, E.; Anagnostou, E.; Neubert, T.A.; Scherer, S.W.; Molholm, S.; Jordan, B.A. 2019: Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome. Nature Communications 10(1): 3529
Sun, Y.; Li, T.; Xie, C.; Xu, Y.; Zhou, K.; Rodriguez, J.; Han, W.; Wang, X.; Kroemer, G.; Modjtahedi, N.; Blomgren, K.; Zhu, C. 2017: Haploinsufficiency in the mitochondrial protein CHCHD4 reduces brain injury in a mouse model of neonatal hypoxia-ischemia. Cell Death and Disease 8(5): E2781
Shi, Y.; Lin, S.; Staats, K.A.; Li, Y.; Chang, W-Hsuan.; Hung, S-Ting.; Hendricks, E.; Linares, G.R.; Wang, Y.; Son, E.Y.; Wen, X.; Kisler, K.; Wilkinson, B.; Menendez, L.; Sugawara, T.; Woolwine, P.; Huang, M.; Cowan, M.J.; Ge, B.; Koutsodendris, N.; Sandor, K.P.; Komberg, J.; Vangoor, V.R.; Senthilkumar, K.; Hennes, V.; Seah, C.; Nelson, A.R.; Cheng, T-Yuan.; Lee, S-Jong.J.; August, P.R.; Chen, J.A.; Wisniewski, N.; Hanson-Smith, V.; Belgard, T.Grant.; Zhang, A.; Coba, M.; Grunseich, C.; Ward, M.E.; van den Berg, L.H.; Pasterkamp, R.Jeroen.; Trotti, D 2018: Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nature Medicine 24(3): 313-325
Delaney, J.Ryan.; Patel, C.B.; Willis, K.McCabe.; Haghighiabyaneh, M.; Axelrod, J.; Tancioni, I.; Lu, D.; Bapat, J.; Young, S.; Cadassou, O.; Bartakova, A.; Sheth, P.; Haft, C.; Hui, S.; Saenz, C.; Schlaepfer, D.D.; Harismendy, O.; Stupack, D.G. 2017: Haploinsufficiency networks identify targetable patterns of allelic deficiency in low mutation ovarian cancer. Nature Communications 8: 14423
He, T.; Huang, Y.; Luo, Y.; Xia, Y.; Wang, L.; Zhang, H.; Ling, J.; Yang, J. 2020: Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3. Journal of Clinical Immunology 40(5): 741-751
Isrie, M.; Hendriks, Y.; Gielissen, N.; Sistermans, E.A.; Willemsen, M.H.; Peeters, H.; Vermeesch, J.R.; Kleefstra, T.; Van Esch, H. 2012: Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. European Journal of Human Genetics: Ejhg 20(2): 131-133
Thomas, Q.; Gautier, T.; Marafi, D.; Besnard, T.; Willems, M.; Moutton, Sébastien.; Isidor, B.; Cogné, B.; Conrad, Sène.; Tenconi, R.; Iascone, M.; Sorlin, A.; Masurel, A.; Dabir, T.; Jackson, A.; Banka, S.; Delanne, J.; Lupski, J.R.; Saadi, N.Waill.; Alkuraya, F.S.; Zahrani, F.Al.; Agrawal, P.B.; England, E.; Madden, J.A.; Posey, J.E.; Burglen, L.; Rodriguez, D.; Chevarin, M.; Nguyen, S.; Mau-Them, Fédéric.Tran.; Duffourd, Y.; Garret, P.; Bruel, A-Line.; Callier, P.; Marle, N.; Denomme-Pichon, A-Sophie.; Duplomb, L.; Philippe, C.; Thauvin-Robinet, C 2021: Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genetics in Medicine: Official Journal of the American College of Medical Genetics 2021
Fjorder, A.S.; Rasmussen, M.B.; Mehrjouy, M.M.; Nazaryan-Petersen, L.; Hansen, C.; Bak, M.; Grarup, N.; Nørremølle, A.; Larsen, L.A.; Vestergaard, H.; Hansen, T.; Tommerup, N.; Bache, I. 2019: Haploinsufficiency of ARHGAP42 is associated with hypertension. European Journal of Human Genetics: Ejhg 27(8): 1296-1303
De Fusco, M.; Marconi, R.; Silvestri, L.; Atorino, L.; Rampoldi, L.; Morgante, L.; Ballabio, A.; Aridon, P.; Casari, G. 2003: Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nature Genetics 33(2): 192-196
Song, W.J.; Sullivan, M.G.; Legare, R.D.; Hutchings, S.; Tan, X.; Kufrin, D.; Ratajczak, J.; Resende, I.C.; Haworth, C.; Hock, R.; Loh, M.; Felix, C.; Roy, D.C.; Busque, L.; Kurnit, D.; Willman, C.; Gewirtz, A.M.; Speck, N.A.; Bushweller, J.H.; Li, F.P.; Gardiner, K.; Poncz, M.; Maris, J.M.; Gilliland, D.G. 1999: Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nature Genetics 23(2): 166-175
Halgren, C.; Bache, I.; Bak, M.; Myatt, M.Wanting.; Anderson, C.Marie.; Brøndum-Nielsen, K.; Tommerup, N. 2012: Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity. European Journal of Human Genetics: Ejhg 20(12): 1315-1319
Lee, S.-H.; Zhang, Y.; Park, J.; Kim, B.; Kim, Y.; Lee, S.H.; Kim, G.H.; Huh, Y.H.; Lee, B.; Kim, Y.; Lee, Y.; Kim, J.Y.; Kang, H.; Choi, S.-Y.; Jang, S.; Li, Y.; Kim, S.; Jin, C.; Pang, K.; Kim, E.; Lee, Y.; Kim, H.; Kim, E.; Choi, J.H.; Kim, J.; Lee, K.J.; Choi, S.-Y.; Han, K. 2020: Haploinsufficiency of Cyfip2 Causes Lithium-Responsive Prefrontal Dysfunction. Annals of Neurology 88(3): 526-543
Shi, C.; Ma, N.; Zhang, W.; Ye, J.; Shi, H.; Xiang, D.; Wu, C.; Song, L.; Zhang, N.; Liu, Q. 2020: Haploinsufficiency of Dspp Gene Causes Dentin Dysplasia Type Ii in Mice. Frontiers in Physiology 11: 593626
Benevento, M.; Oomen, C.A.; Horner, A.E.; Amiri, H.; Jacobs, T.; Pauwels, C.; Frega, M.; Kleefstra, T.; Kopanitsa, M.V.; Grant, S.G.N.; Bussey, T.J.; Saksida, L.M.; Van der Zee, C.E.E.M.; van Bokhoven, H.; Glennon, J.C.; Kasri, N.Nadif. 2017: Haploinsufficiency of EHMT1 improves pattern separation and increases hippocampal cell proliferation. Scientific Reports 7: 40284
Li, Z.; Li, H.; Xu, X.; Wang, L.; Liu, B.; Zheng, W.; Lian, L.; Song, Y.; Xia, X.; Hou, L.; Cheng, H.; Zhou, R. 2020: Haploinsufficiency of GCP4 induces autophagy and leads to photoreceptor degeneration due to defective spindle assembly in retina. Cell Death and Differentiation 27(2): 556-572
Williams, S.R.; Mullegama, S.V.; Rosenfeld, J.A.; Dagli, A.I.; Hatchwell, E.; Allen, W.P.; Williams, C.A.; Elsea, S.H. 2010: Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. European Journal of Human Genetics: Ejhg 18(4): 436-441
Witteveen, J.S.; Willemsen, M.H.; Dombroski, Tís.C.D.; van Bakel, N.H.M.; Nillesen, W.M.; van Hulten, J.A.; Jansen, E.J.R.; Verkaik, D.; Veenstra-Knol, H.E.; van Ravenswaaij-Arts, C.M.A.; Wassink-Ruiter, J.S.Klein.; Vincent, M.; David, A.; Le Caignec, C.; Schieving, J.; Gilissen, C.; Foulds, N.; Rump, P.; Strom, T.; Cremer, K.; Zink, A.M.; Engels, H.; de Munnik, S.A.; Visser, J.E.; Brunner, H.G.; Martens, G.J.M.; Pfundt, R.; Kleefstra, T.; Kolk, S.M. 2016: Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nature Genetics 48(8): 877-887
Kurotaki, N.; Imaizumi, K.; Harada, N.; Masuno, M.; Kondoh, T.; Nagai, T.; Ohashi, H.; Naritomi, K.; Tsukahara, M.; Makita, Y.; Sugimoto, T.; Sonoda, T.; Hasegawa, T.; Chinen, Y.; Tomita Ha, H-aki.; Kinoshita, A.; Mizuguchi, T.; Yoshiura Ki, K-ichiro.; Ohta, T.; Kishino, T.; Fukushima, Y.; Niikawa, N.; Matsumoto, N. 2002: Haploinsufficiency of NSD1 causes Sotos syndrome. Nature Genetics 30(4): 365-366
Chowdhury, F.; Wang, L.; Al-Raqad, M.; Amor, D.J.; Baxová, A.; Bendová, Šárka.; Biamino, E.; Brusco, A.; Caluseriu, O.; Cox, N.J.; Froukh, T.; Gunay-Aygun, M.; Hančárová, M.; Haynes, D.; Heide, S.; Hoganson, G.; Kaname, T.; Keren, B.; Kosaki, K.; Kubota, K.; Lemons, J.M.; Magriña, M.A.; Mark, P.R.; McDonald, M.T.; Montgomery, S.; Morley, G.M.; Ohnishi, H.; Okamoto, N.; Rodriguez-Buritica, D.; Rump, P.; Sedláček, Zěk.; Schatz, K.; Streff, H.; Uehara, T.; Walia, J.S.; Wheeler, P.G.; Wiesener, A.; Zweier, C.; Kawakami, K.; Wentzensen, I.M.; Lala 2021: Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities. Genetics in Medicine: Official Journal of the American College of Medical Genetics 2021
Wang, X.; Liu, L.; Montagna, C.; Ried, T.; Deng, C-X. 2007: Haploinsufficiency of Parp1 accelerates Brca1-associated centrosome amplification, telomere shortening, genetic instability, apoptosis, and embryonic lethality. Cell Death and Differentiation 14(5): 924-931
Cho, K-in.; Yi, H.; Yeh, A.; Tserentsoodol, N.; Cuadrado, L.; Searle, K.; Hao, Y.; Ferreira, P.A. 2009: Haploinsufficiency of RanBP2 is neuroprotective against light-elicited and age-dependent degeneration of photoreceptor neurons. Cell Death and Differentiation 16(2): 287-297
Timberlake, A.T.; Griffin, C.; Heike, C.L.; Hing, A.V.; Cunningham, M.L.; Chitayat, D.; Davis, M.R.; Doust, S.J.; Drake, A.F.; Duenas-Roque, M.M.; Goldblatt, J.; Gustafson, J.A.; Hurtado-Villa, P.; Johns, A.; Karp, N.; Laing, N.G.; Magee, L.; Mullegama, S.V.; Pachajoa, H.; Porras-Hurtado, G.L.; Schnur, R.E.; Slee, J.; Singer, S.L.; Staffenberg, D.A.; Timms, A.E.; Wise, C.A.; Zarante, I.; Saint-Jeannet, J-Pierre.; Luquetti, D.V. 2021: Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nature Communications 12(1): 4680
Matsunawa, M.; Yamamoto, R.; Sanada, M.; Sato-Otsubo, A.; Shiozawa, Y.; Yoshida, K.; Otsu, M.; Shiraishi, Y.; Miyano, S.; Isono, K.; Koseki, H.; Nakauchi, H.; Ogawa, S. 2014: Haploinsufficiency of Sf3b1 leads to compromised stem cell function but not to myelodysplasia. Leukemia 28(9): 1844-1850
Bruno, C.; Sieverding, K.; Freischmidt, A.; Satoh, T.; Walther, P.; Mayer, B.; Ludolph, A.C.; Akira, S.; Yilmazer-Hanke, D.; Danzer, K.M.; Lobsiger, C.S.; Brenner, D.; Weishaupt, J.H. 2020: Haploinsufficiency of TANK-binding kinase 1 prepones age-associated neuroinflammatory changes without causing motor neuron degeneration in aged mice. Brain Communications 2(2): Fcaa 133
Freischmidt, A.; Wieland, T.; Richter, B.; Ruf, W.; Schaeffer, V.; Müller, K.; Marroquin, N.; Nordin, F.; Hübers, A.; Weydt, P.; Pinto, S.; Press, R.; Millecamps, Séphanie.; Molko, N.; Bernard, E.; Desnuelle, C.; Soriani, M-Hélène.; Dorst, J.; Graf, E.; Nordström, U.; Feiler, M.S.; Putz, S.; Boeckers, T.M.; Meyer, T.; Winkler, A.S.; Winkelman, J.; de Carvalho, M.; Thal, D.R.; Otto, M.; Brännström, T.; Volk, A.E.; Kursula, P.; Danzer, K.M.; Lichtner, P.; Dikic, I.; Meitinger, T.; Ludolph, A.C.; Strom, T.M.; Andersen, P.M.; Weishaupt 2015: Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nature Neuroscience 18(5): 631-636
Okuno, K.; Naito, Y.; Yasumura, S.; Sawada, H.; Asakura, M.; Masuyama, T.; Ishihara, M. 2019: Haploinsufficiency of Transferrin Receptor 1 Impairs Angiogenesis with Reduced Mitochondrial Complex I in Mice with Limb Ischemia. Scientific Reports 9(1): 13658
Bassetti, D.; Lombardi, A.; Kirischuk, S.; Luhmann, H.J. 2020: Haploinsufficiency of Tsc2 Leads to Hyperexcitability of Medial Prefrontal Cortex via Weakening of Tonic GABAB Receptor-mediated Inhibition. Cerebral Cortex 30(12): 6313-6324
Weiss, K.; Wigby, K.; Fannemel, M.; Henderson, L.B.; Beck, N.; Ghali, N.; Study, D.D.D.; Anderlid, B-Marie.; Lundin, J.; Hamosh, A.; Jones, M.C.; Ghedia, S.; Muenke, M.; Kruszka, P. 2017: Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. European Journal of Human Genetics: Ejhg 25(8): 946-951
Courchet, V.; Roberts, A.J.; Meyer-Dilhet, Géraldine.; Del Carmine, P.; Lewis, T.L.; Polleux, F.; Courchet, J. 2018: Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice. Nature Communications 9(1): 4289
Bae, E-J.; Yang, N.Y.; Lee, C.; Kim, S.; Lee, H-J.; Lee, S-J. 2015: Haploinsufficiency of cathepsin D leads to lysosomal dysfunction and promotes cell-to-cell transmission of α-synuclein aggregates. Cell Death and Disease 6: E1901
Schindler, M.K.; Pittaluga, S.; Enose-Akahata, Y.; Su, H.C.; Rao, V.K.; Rump, A.; Jacobson, S.; Cortese, I.; Reich, D.S.; Uzel, G. 2020: Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder. Journal of Clinical Investigation 130(10): 5551-5561
Liu, T.; Ahmed, T.; Krysiak, K.; Shirai, C.L.; Shao, J.; Nunley, R.; Bucala, R.; McKenzie, A.; Ndonwi, M.; Walter, M.J. 2020: Haploinsufficiency of multiple del(5q) genes induce B cell abnormalities in mice. Leukemia Research 96: 106428
Cho, C.; Willis, W.D.; Goulding, E.H.; Jung-Ha, H.; Choi, Y.C.; Hecht, N.B.; Eddy, E.M. 2001: Haploinsufficiency of protamine-1 or -2 causes infertility in mice. Nature Genetics 28(1): 82-86
Smith, A.F.; Vanderah, T.W.; Erickson, R.P. 2020: Haploinsufficiency of tau decreases survival of the mouse model of Niemann-Pick disease type C1 but does not alter tau phosphorylation. Journal of Applied Genetics 61(4): 567-570
Devaraju, P.; Yu, J.; Eddins, D.; Mellado-Lagarde, M.M.; Earls, L.R.; Westmoreland, J.J.; Quarato, G.; Green, D.R.; Zakharenko, S.S. 2017: Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium. Molecular Psychiatry 22(9): 1313-1326
Rivero, O.; Alhama-Riba, J.; Ku, H.-P.; Fischer, M.; Ortega, G.; Álmos, P.ét.; Diouf, D.; van den Hove, D.; Lesch, K.-P. 2021: Haploinsufficiency of the Attention-Deficit/Hyperactivity Disorder Risk Gene St3gal3 in Mice Causes Alterations in Cognition and Expression of Genes Involved in Myelination and Sialylation. Frontiers in Genetics 12: 688488
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