COCH Antibody

1. A homozygous nonsense c.292C>T(p.Arg98*) COCH variant was identified in two brothers with prelingual hearing impairment. PMID: 29449721
2. Recessive dystrophic epidermolysis bullosa patients displayed lower levels of systemic cochlin LCCL domain with subsequently impaired macrophage response in infected wounds. PMID: 29305555
3. A missense mutation in the LCCL domain of COCH was associated with autosomal dominant nonsyndromic sensorineural hearing loss in a Chinese family. PMID: 28116169
4. c.889G>A (p.C162Y) Mutation in COCH leads to vestibular dysfunction and autosomal dominant nonsyndromic deafness 9.The p.C162Y mutation causes either disruption of LCCL domain fragment cleavage or aggregation of mutant cochlin. PMID: 28099493
5. COCH expression is significantly downregulated in human masticatory mucosa during wound healing PMID: 28005267
6. Distinct vestibular phenotypes depending on the location of COCH mutations were demonstrated, and this study correlates a genotype of p.G38D in COCH to the phenotype of bilateral total vestibular loss, therefore expanding the vestibular phenotypic spectrum of DFNA9 to range from bilateral vestibular loss without episodic vertigo to MD-like features with devastating episodic vertigo PMID: 26758463
7. This study showed that Mendelian sensorineural hearing loss exhibits vestibular dysfunction, including DFNA9, DFNA11, DFNA15 and DFNA28. PMID: 27083884
8. the impaired post-translational cleavage of cochlin mutants may be associated with pathological mechanisms underlying DFNA9-related sensorineural hearing loss. PMID: 26256111
9. This family is the first case of a truncating COCH variant and supports the hypothesis that COCH haploinsufficiency is not the cause of hearing loss in humans. PMID: 26631968
10. Targeted exon resequencing of selected genes using next-generation sequencing identified 3 COCH (one known, two novel) mutations in a cohort of hearing loss patients in Japan. PMID: 25780252
11. This is the first report showing failure of mutant cochlin transport through the secretory pathway, abolishment of cochlin secretion, and formation and retention of dimers and large multimeric intracellular aggregates PMID: 25230692
12. prominent in the incudomalleal joint, incudostapedial joint, and the pars tensa of the tympanic membrane PMID: 25049087
13. A new phenotypic and characteristic radiologic feature of DFNA9 has been discovered. PMID: 24662630
14. new variants in genes such as COCH is associated with nonsyndromic deafness and vestibular dysfunction. PMID: 24275721
15. Chinese DFNA9 family associated with novel COCH mutation with genotype-phenotype correlation. PMID: 23993205
16. This study suggests lack of association of both COCH and TNFA with primary open-angle glaucoma pathogenesis. PMID: 24063017
17. COCH and SLC26A5 mRNA are expressed in specific structures and cells of the inner ear in archival human temporal bone PMID: 23660400
18. Identification of a novel missense mutation in COCH in a Chinese family with autosomal dominant non-syndromic progressive sensorineural hearing loss. PMID: 22931125
19. The data cannot confirm the association described previously between superior semicircular canal dehiscence and the presence of mutations in COCH gene. PMID: 22139968
20. the instability of mutant cochlin is the major driving force for cochlin aggregation in the inner ear in DFNA9 patients carrying the COCH p.F527C mutation PMID: 22610276
21. Cochlin interacts with TREK-1 and annexin A2. PMID: 21886777
22. The phenotype associated with the I109N COCH mutation is largely similar to that associated with the I109T, P51S, G87W, and G88E mutation carriers. However, subtle differences seem to exist in terms of age of onset and rate of progression. PMID: 21774451
23. All affected family members with a COCH mutation in the vWFA2 domain shared sensorineural hearing loss with full penetrance starting between the second and fifth decade of life. PMID: 17944208
24. The onset of the hearing loss, in the 2nd or 3rd decade of life, is earlier than in most DFNA9 families. The progression of hearing loss and vestibular dysfunction in the American family is typical of other DFNA9 families with mutations in this domain. PMID: 21046548
25. present in the perilymph, not in cerebrospinal fluid PMID: 20105107
26. The causative gene of autosomal dominant non-syndromic hearing loss in the Korean family and a recurrent mutation in the COCH gene, were identified. PMID: 20447147
27. study suggests a possible molecular mechanism underlying DFNA9 hearing loss and provides an in vitro model that may be used to explore protein-misfolding diseases in genera PMID: 20228067
28. Cochlin expression was effective in decreasing outflow facility and increasing pressure in cultured anterior segment, suggesting possible involvement of cochlin in IOP elevation in vivo. PMID: 19933177
29. By RT-PCR, we found that full-length cochlin was expressed in all organs examined, with a splice variant in the heart. By Western blot, we detected short isoforms (11-17 kDa) in the perilymph. PMID: 19657184
30. Areas that express COCH mRNA as determined by in situ hybridization, and to the regions of the inner ear which show histological abnormalities in autosomal dominant sensorineural deafness and vestibular disorder, DFNA9. PMID: 11709536
31. findings suggest that COCH mutations are unlikely to cause abnormalities in secretion and suggest that extracellular events might cause autosomal dominant sensorineural deafness (DFNA9) pathology PMID: 12928864
32. A multigeneration Belgian family with late-onset progressive sensorineural hearing loss--Linkage to DFNA9 was confirmed and mutation analysis revealed a P51S mutation in the COCH gene. PMID: 14501450
33. Cochlin, a protein associated with deafness disorder DFNA9, is present in glaucomatous but absent in normal trabecular meshwork PMID: 15579465
34. A new COCH mutation is identified which causes autosomal dominant hearing impairment. PMID: 16835921
35. Cochlin-specific interferon-gamma-producing T cells are implicated in the etiopathogenesis of autoimmune sensorineural hearing loss. PMID: 16951386
36. Haplotype analysis placed the late onset autosomal dominant hereditary non-syndromic hearing loss locus within a 7.6 cM genetic interval defined by marker D14S1021 and D14S70, overlapping with the DFNA9 locus PMID: 17138532
37. the phenotype associated with the novel COCH (G87W) mutation is largely similar to that associated with the P51S and G88E mutation carriers PMID: 17264471
38. Data analysis demonstrated a significant association between vertical corneal striae and the Pro51Ser and Gly88Glu mutations in the COCH gene in DFNA9 families 1, 2, and 3 with cochleovestibular dysfunction. PMID: 17368553
39. This is a report of the audiological and vestibular characteristics of a Dutch DFNA9 family with a novel mutation, I109T, in the LCCL domain of COCH PMID: 17561763
40. A prominent but previously unreported ribbon-like pattern of cochlin in the basilar membrane was demonstrated, suggesting an important role for cochlin in the structure of the basilar membrane. PMID: 17926100
41. novel mutations in the vWFA2 domain of the COCH gene were identified in Chinese families with autosomal dominant sensorineural non-syndromic hearing loss (HL) 9 PMID: 18312449
42. The second von Willebrand type A domain of cochlin has affinity for type II collagen, as well as type I and type IV collagens whereas the LCCL-domain of cochlin has no affinity for these proteins. PMID: 19013156
43. These results support the finding that the observed increased cochlin expression in glaucomatous TM is due to relative elevated abundance of transcription factors. PMID: 19098315
44. causative mutation in the COCH gene in American families associated with superior semicircular canal dehiscence.(280-5) PMID: 19161137

Show More

Hide All

HGNC: 2180

OMIM: 601369

KEGG: hsa:1690

STRING: 9606.ENSP00000216361

UniGene: Hs.21016