The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

Mutations in the GJB2 and GJB6 genes, respectively, coding for connexin26 (Cx26) and connexin30 (Cx30) proteins, are the most common cause for prelingual non-syndromic deafness in humans. In the inner ear, Cx26 and Cx30 are expressed in different non-sensory cell types, where they largely co-localiz...

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Detalles Bibliográficos
Autores principales: Schütz, Melanie, Scimemi, Pietro, Majumder, Paromita, De Siati, Romolo Daniele, Crispino, Giulia, Rodriguez, Laura, Bortolozzi, Mario, Santarelli, Rosamaria, Seydel, Anke, Sonntag, Stephan, Ingham, Neil, Steel, Karen P., Willecke, Klaus, Mammano, Fabio
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2989887/
https://www.ncbi.nlm.nih.gov/pubmed/20858605
http://dx.doi.org/10.1093/hmg/ddq402

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