Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

Journal of molecular medicine (Berlin, Germany) - 1 Nov 2012

Cho Hyun-Ju, Park Hong-Joon, Trexler Maria, Venselaar Hanka, Lee Kyu Yup, Robertson Nahid G, Baek Jeong-In, Kang Beom Sik, Morton Cynthia C, Vriend Gert, Patthy László, Kim Un-Kyung

Abstract excerpt

Mutations in COCH have been associated with autosomal dominant nonsyndromic hearing loss (DFNA9) and are frequently accompanied by vestibular hypofunction. Here, we report identification of a novel missense mutation, p.F527C, located in the vWFA2 domain in members of a Korean family with late-onset and progressive hearing loss. To assess the molecular characteristics of this cochlin mutant, we constructed both...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disulfides
Share to Ear, Inner

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Extracellular Matrix Proteins

Share to Genes, Dominant

Share to Golgi Apparatus

Share to Hearing Loss

Share to Mutation, Missense

Source

Open in PubMed Open full text

Identifiers

PMID: 22610276
DOI: 10.1007/s00109-012-0911-2
PMCID: PMC4361775

Genes

COCH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.PMID 22610276Read ↗

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 ↗

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

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

A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.Semantic proximity Read ↗

Role of Protein Misfolding in DFNA9 Hearing LossSemantic proximity Read ↗

Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.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 ↗

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

Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.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 ↗

Detailed hearing and vestibular profiles in the patients with COCH mutations.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.