The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome

Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness. Some mutations produce a gain of function and cause syndromic deafness associated with skin disorders, such as keratitis-ichthyosis-deafness syndrome (KIDS). Cx26-G45E is...

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Detalles Bibliográficos
Autores principales: Mese, Gulistan, Sellitto, Caterina, Li, Leping, Wang, Hong-Zhan, Valiunas, Virginijus, Richard, Gabriele, Brink, Peter R., White, Thomas W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Cell Biology 2011
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237621/
https://www.ncbi.nlm.nih.gov/pubmed/22031297
http://dx.doi.org/10.1091/mbc.E11-09-0778

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237621/
https://www.ncbi.nlm.nih.gov/pubmed/22031297
http://dx.doi.org/10.1091/mbc.E11-09-0778

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