Ontology highlight
ABSTRACT:
SUBMITTER: Ebrahim S
PROVIDER: S-EPMC4859837 | biostudies-literature | 2016 May
REPOSITORIES: biostudies-literature
Ebrahim Seham S Ingham Neil J NJ Lewis Morag A MA Rogers Michael J C MJC Cui Runjia R Kachar Bechara B Pass Johanna C JC Steel Karen P KP
Cell reports 20160421 5
WHRN (DFNB31) mutations cause diverse hearing disorders: profound deafness (DFNB31) or variable hearing loss in Usher syndrome type II. The known role of WHRN in stereocilia elongation does not explain these different pathophysiologies. Using spontaneous and targeted Whrn mutants, we show that the major long (WHRN-L) and short (WHRN-S) isoforms of WHRN have distinct localizations within stereocilia and also across hair cell types. Lack of both isoforms causes abnormally short stereocilia and pro ...[more]