Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model

BACKGROUND: Pendred syndrome, a common autosomal-recessive disorder characterized by congenital deafness and goiter, is caused by mutations of SLC26A4, which codes for pendrin. We investigated the relationship between pendrin and deafness using mice that have (Slc26a4(+/+)) or lack a complete Slc26a...

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Detalles Bibliográficos
Autores principales: Wangemann, Philine, Itza, Erin M, Albrecht, Beatrice, Wu, Tao, Jabba, Sairam V, Maganti, Rajanikanth J, Ho Lee, Jun, Everett, Lorraine A, Wall, Susan M, Royaux, Ines E, Green, Eric D, Marcus, Daniel C
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC516044/
https://www.ncbi.nlm.nih.gov/pubmed/15320950
http://dx.doi.org/10.1186/1741-7015-2-30

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