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Article

Identification of a novel Cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9.

Biochemical and biophysical research communications - 6 Feb 2004

Ikezono Tetsuo, Shindo Susumu, Li Lishu, Omori Akira, Ichinose Sachiyo, Watanabe Atsushi, Kobayashi Toshimitsu, Pawankar Ruby, Yagi Toshiaki

Abstract excerpt

The COCH gene mutated in DFNA9, an autosomal dominant hereditary sensorineural hearing loss and vestibular disorder, encodes Cochlin. Previously, we reported three bovine Cochlin isoforms, p63s, p44s, and p40s, which exhibit significant molecular heterogeneity in vivo. Here we have characterized...

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Source

Identifiers

PMID: 14733925
DOI: 10.1016/j.bbrc.2003.12.106

Genes

COCH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14733925-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Identification of a novel Cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9.PMID 14733925Read ↗

Expression of full-length Cochlin p63s is inner ear specific.Semantic proximity Read ↗

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.Semantic proximity Read ↗

On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.Semantic proximity Read ↗

Expression of cochlin mRNA splice variants in the inner ear.Semantic proximity Read ↗

Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.Semantic proximity Read ↗

Expression of cochlin in the vestibular organ of rats.Semantic proximity Read ↗

Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).Semantic proximity Read ↗

Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.Semantic proximity Read ↗

Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.Semantic proximity Read ↗

Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.Semantic proximity Read ↗

COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.Semantic proximity Read ↗

Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.Semantic proximity Read ↗

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