Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1997/05/01 by D. P. Kelsell, David P. Kelsell, John Dunlop +12 · 1,176 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Audiology #Biology #Cochlea #Connexin #Connexins and lens biology #Gene #Genetics #Hearing loss #Hearing, Cochlea, Tinnitus, Genetics #Medicine #Mutation #Phenotype #RNA regulation and disease #Sensorineural hearing loss #Waardenburg syndrome

paper · doi:10.1038/387080a0

published in Nature 387(6628), 80-83 (Springer Science and Business Media LLC)

crossref issued 1997/05/01 · crossref published 1997/05/01 · crossref published-print 1997/05/01 · openalex publication_date 1997/05/01 · crossref created 2003/08/12 · crossref deposited 2023/05/18 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/27 · crossref indexed 2026/08/07

Cited by

• Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome
• Connexin 26 mutations in autosomal recessive deafness disorders: A review
• Toward an Understanding of Cochlear Homeostasis: The Impact of Location and the Role of OCP1 and OCP2
• GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
• Expression of the gap-junction connexins 26 and 30 in the rat cochlea
• Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea
• A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews
• Gap Junctions and Cochlear Homeostasis
• Human Connexin 30 (GJB6), a Candidate Gene for Nonsyndromic Hearing Loss: Molecular Cloning, Tissue-Specific Expression, and Assignment to Chromosome 13q12
• Gap junction systems in the mammalian cochlea
• Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells
• Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
• Mutations in GJB6 cause hidrotic ectodermal dysplasia
• Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
• A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
• Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
• A Novel Connexin 30 Mutation in Clouston Syndrome
• Importance of connectivity in the Danube River catchment
• Connexin 26 and Connexin 30 Mutations in Children with Nonsyndromic Hearing Loss
• GJB2 [wikipedia]