Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
A Novel COCH p.D544Vfs*3 Variant Associated with DFNA9 Sensorineural Hearing Loss Causes Pathological Multimeric Cochlin Formation.
Peng Y et al.
Life (basel, Switzerland), 2023
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.
Praveen K et al.
Communications Biology, 2022
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS et al.
Human Genetics, 2022
Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.
Robijn SMM et al.
Biomolecules, 2022
Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9).
Honda T et al.
Plos One, 2022
First Report of Bilateral External Auditory Canal Cochlin Aggregates ("Cochlinomas") with Multifocal Amyloid-Like Deposits, Associated with Sensorineural Hearing Loss and a Novel Genetic Variant in COCH Encoding Cochlin.
Basu A et al.
Head and Neck Pathology, 2020
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
Masuda M et al.
Biochemical and Biophysical Research Communications, 2016
Detailed hearing and vestibular profiles in the patients with COCH mutations.
Tsukada K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
Bae SH et al.
Human Mutation, 2014
Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
Chen DY et al.
International Journal of Pediatric Otorhinolaryngology, 2013
Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
Pauw RJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
The genetic bases for non-syndromic hearing loss among Chinese.
Ouyang XM et al.
Journal of Human Genetics, 2009
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2009
The second von Willebrand type A domain of cochlin has high affinity for type I, type II and type IV collagens.
Nagy I et al.
Febs Letters, 2008
A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.
Robertson NG et al.
Human Molecular Genetics, 2008
Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.
Yuan HJ et al.
Clinical Genetics, 2008
[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].
Tian G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
[Audiological and vestibular evaluation of new coagulation factor C homology mutation carriers in a Chinese family].
Sun Q et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2007
Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.
Bischoff AM et al.
American Journal of Ophthalmology, 2007
Phenotype description of a novel DFNA9/COCH mutation, I109T.
Pauw RJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2007
Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.
Pauw RJ et al.
Audiology & Neuro-otology, 2007
Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).
Collin RW et al.
American Journal of Medical Genetics. Part A, 2006
Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
Robertson NG et al.
Human Molecular Genetics, 2006
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.
Street VA et al.
American Journal of Medical Genetics. Part A, 2005
[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].
Yang SZ et al.
Zhonghua Yi Xue Za Zhi, 2005
[Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients].
Dai P et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2005
Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus.
Gallant E et al.
American Journal of Otolaryngology, 0