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Article

Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia.

Cell reports - 3 May 2016

Ebrahim Seham, Ingham Neil J, Lewis Morag A, Rogers Michael J C, Cui Runjia, Kachar Bechara, Pass Johanna C, Steel Karen P

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Cells, Auditory

Share to Mechanotransduction, Cellular

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Source

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Identifiers

PMID: 27117407
DOI: 10.1016/j.celrep.2016.03.081
PMCID: PMC4859837

Genes

WHRN
EPS8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia.PMID 27117407Read ↗

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Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.Semantic proximity Read ↗

Long isoforms of Espin and Espin-Like proteins are essential for development and maintenance of mechanotransducing stereocilia.Semantic proximity Read ↗

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