Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
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
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
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Audiovestibular Phenotypes and Advanced Magnetic Resonance Imaging Features of Cochlin Gene Mutation Carriers.
Conte G et al.
Audiology & Neuro-otology, 2019
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
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.
Wang Q et al.
Plos One, 2017
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
Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).
Burgess BJ et al.
Audiology & Neuro-otology, 2016
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
Jung J et al.
Human Mutation, 2015
[Phenotype predictions of the pathogenic nonsynonymous single nucleotide polymorphisms in deafness-causing gene COCH].
Qian XL et al.
Yi Chuan = Hereditas, 2015
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
Focal sclerosis of semicircular canals with severe DFNA9 hearing impairment caused by a P51S COCH-mutation: is there a link?
de Varebeke SP et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2014
Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
Chen DY et al.
International Journal of Pediatric Otorhinolaryngology, 2013
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
Cho HJ et al.
Journal of Molecular Medicine (berlin, Germany), 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
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
Hildebrand MS et al.
The Laryngoscope, 2010
Role of protein misfolding in DFNA9 hearing loss.
Yao J et al.
The Journal of Biological Chemistry, 2010
The Trp117Arg mutation of the COCH gene causes deafness in Koreans.
Baek JI et al.
Clinical Genetics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
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
[From gene to disease; a progressive cochlear-vestibular dysfunction with onset in middle-age (DFNA9)].
Cremers CW et al.
Nederlands Tijdschrift Voor Geneeskunde, 2005
Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.
Bischoff AM et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2005
Absence of COCH mutations in patients with Meniere disease.
Sanchez E et al.
European Journal of Human Genetics : Ejhg, 2004
A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss.
Nagy I et al.
Journal of Medical Genetics, 2004
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.
Grabski R et al.
Human Genetics, 2003
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
Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.
Robertson NG et al.
Journal of Medical Genetics, 2003
Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
Kamarinos M et al.
Human Mutation, 2001
DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear.
Khetarpal U
The Laryngoscope, 2000
The COCH gene: a frequent cause of hearing impairment and vestibular dysfunction?
Fransen E et al.
British Journal of Audiology, 1999
Autosomal dominant nonsyndromic hearing impairment.
Van Laer L et al.
American Journal of Medical Genetics, 1999
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
Robertson NG et al.
Nature Genetics, 1998