Associated Papers
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
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study.
Oh KS et al.
Human Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI 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
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.
Verdoodt D et al.
Hearing Research, 2021
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
Sequencing of exons 4, 5, 12 of COCH gene in patients with postlingual sensorineural hearing loss accompanied by vestibular lesion.
Mielczarek M et al.
Archives of Medical Science : Ams, 2018
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
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 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
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
Usami S et al.
Plos One, 2012
Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
Pauw RJ et al.
The Annals of Otology, Rhinology, and Laryngology, 2011
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2009
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
Vestibular function in families with inherited autosomal dominant hearing loss.
Street VA et al.
Journal of Vestibular Research : Equilibrium & Orientation, 2008
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
Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.
Abe S et al.
Genetic Testing, 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
Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.
Usami S et al.
European Journal of Human Genetics : Ejhg, 2003