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

Absence of COCH mutations in patients with Meniere disease.

European journal of human genetics : EJHG - 1 Jan 2004

Sanchez Elena, López-Escámez Jose A, López-Nevot Miguel A, López-Nevot Alicia, Cortes Rosario, Martin Javier

Abstract excerpt

Missense mutations in the coagulation factor C homology (COCH) gene (14q12-q13) cause the autosomal dominant sensorineural hearing loss and vestibular disorder DFNA9 (OMIM 603196), and a high prevalence of symptoms of Meniere disease (MD) has been described in families with a mutation in the COCH gene. In this study, we search for mutations in the COCH gene in peripheral blood from patients with definite MD. DNA...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 14
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extracellular Matrix Proteins

Share to Hearing Loss, Sensorineural

Share to Meniere Disease

Share to Mutation

Share to Proteins

Source

Identifiers

PMID: 14704763
DOI: 10.1038/sj.ejhg.5201065

Genes

COCH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Absence of COCH mutations in patients with Meniere disease.PMID 14704763Read ↗

A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.Semantic proximity Read ↗

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.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 ↗

[Mutation screening of the COCH gene in familial and sporadic patients with late onset nonsyndromic sensorineural hearing loss among Chinese population].Semantic proximity Read ↗

[Phenotype predictions of the pathogenic nonsynonymous single nucleotide polymorphisms in deafness-causing gene COCH].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 ↗

Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.Semantic proximity Read ↗

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

Genetics (molecular biology) and Meniere's disease.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 ↗

Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.Semantic proximity Read ↗

Role of Protein Misfolding in DFNA9 Hearing LossSemantic proximity Read ↗

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