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 frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.

Biochemical and biophysical research communications - 8 Jan 2016

Masuda Masatsugu, Mutai Hideki, Arimoto Yukiko, Nakano Atsuko, Matsunaga Tatsuo

Abstract excerpt

COCH (coagulation factor C homology) encodes cochlin, and certain mutations of COCH cause autosomal dominant nonsyndromic deafness 9 (DFNA9). Hearing loss due to COCH mutation begins in adulthood, and 17 missense mutations and two in-frame mutations have been reported. Studies with animal and cellular models have suggested that the underlying biological mechanism of DFNA9 is the dominant-negative effect of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Genetic Predisposition to Disease

Share to Haploinsufficiency

Share to Hearing Loss, Sensorineural

Share to Young Adult

Source

Identifiers

PMID: 26631968
DOI: 10.1016/j.bbrc.2015.11.106

Genes

COCH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.PMID 26631968Read ↗

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.Semantic proximity Read ↗

Novel Loss-of-Function Mutations in <i>COCH</i> Cause Autosomal Recessive Nonsyndromic DeafnessSemantic proximity Read ↗

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

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 ↗

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defectsSemantic proximity Read ↗

Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.Semantic proximity Read ↗

Mutations in COCH (formerly Coch5b2) cause DFNA9.Semantic proximity Read ↗

Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.Semantic proximity Read ↗

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

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 ↗

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