+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30



Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30



Human Molecular Genetics 12(8): 805-812



Mutations in the gene (GJB2) encoding connexin 26 (cx26) have been linked to sensorineural hearing loss either alone or as part of a syndrome. Here we compare the properties of four cx26 mutants derived from point mutations associated with dominantly inherited hearing loss, either non-syndromic (W44S, R75W) or with various skin disorders (G59A, D66H, R75W).

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 011030852

Download citation: RISBibTeXText

PMID: 12668604

DOI: 10.1093/hmg/ddg076


Related references

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease. Molecular Genetics and Metabolism 81(2): 100-104, 2004

GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan. Zhong Nan Da Xue Xue Bao. Yi Xue Ban 34(6): 498-503, 2009

A novel domain within the DEAD-box protein DP103 is essential for transcriptional repression and helicase activity. Molecular and Cellular Biology 23(1): 414-423, 2003

Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement. Investigative Ophthalmology and Visual Science 39(9): 1736-1739, 1998

Clinical studies of colorectal cancer in patients over 80 years old. Kawasaki Igakkai Shi 25(3): 165-172, 1999

Moderate germicidal action of fluorescent lights. Bulletin de l'Academie Nationale de Medecine 135(7-8): 138-142, 1951

Evaluation of electrocardiographic parameters in patients with diabetes insipidus. Wiener Klinische Wochenschrift 127(21-22): 871-876, 2015

Hearing impairment and psychosis: a replication in a cohort of young adults. Schizophrenia Research 85(1-3): 266-272, 2006

Connexin expression patterns in diseased human corneas. Experimental and Therapeutic Medicine 7(4): 791-798, 2014

Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss. Molecular Biology Reports 39(12): 10481-7, 2012

Connexel visualization: a software implementation of glyphs and edge-bundling for dense connectivity data using brainGL. Frontiers in Neuroscience 8: 15, 2014

Autosomal recessive nanophthalmos. Acta Ophthalmologica Scandinavica 75(3): 325-328, 1997

Three Novel Escherichia coli Vectors for Convenient and Efficient Molecular Biological Manipulations. Journal of Agricultural and Food Chemistry 66(24): 6123-6131, 2018

Conners 3-Self-Report Scale: An empirical support to the dimensionality of the content scales. Clinical Child Psychology and Psychiatry 23(4): 556-566, 2018

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genetics 36(5): 9-51, 2004