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
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
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
[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
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
Cheng J et al.
Annals of Human Genetics, 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
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
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
[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