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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Pubblicato in:BMC Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2004
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Research Article
Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC516044/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15320950/
https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1741-7015-2-30
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