Associated Papers
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro.
Cook J et al.
Royal Society Open Science, 2019
31598268 (PubMed )
Supplement: rsos191128_review_history.pdf
From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.
García IE et al.
The Journal of Investigative Dermatology, 2016
Diseases associated with leaky hemichannels.
Retamal MA et al.
Frontiers in Cellular Neuroscience, 2015
Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.
Levit NA et al.
Biochimica Et Biophysica Acta, 2012
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.
Iossa S et al.
Current Genomics, 2011
Connexin-26 mutations in deafness and skin disease.
Lee JR et al.
Expert Reviews in Molecular Medicine, 2009
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
Nemoto-Hasebe I et al.
The British Journal of Dermatology, 2009
Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.
Esmer C et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0
Select a paper to view details