Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
GDC: Integration of Multi-Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss.
Cheng H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 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
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
AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9.
de Vrieze E et al.
Molecular Therapy. Nucleic Acids, 2021
A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.
Smits JJ et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 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
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT et al.
Human Genetics, 2020
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
Cochlear Implantation From the Perspective of Genetic Background.
Usami SI et al.
Anatomical Record (hoboken, N.j. : 2007), 2020
Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss.
Van Rompaey V
Frontiers in Neurology, 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
A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene.
JanssensdeVarebeke S et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2019
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
JanssensdeVarebeke SPF et al.
European Journal of Human Genetics : Ejhg, 2018
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
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
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
Detailed hearing and vestibular profiles in the patients with COCH mutations.
Tsukada K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY 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
Clinical aspects of an autosomal dominantly inherited hearing impairment linked to the DFNA60 locus on chromosome 2q23.1-2q23.3.
van Beelen E et al.
Hearing Research, 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
Extralabyrinthine manifestations of DFNA9.
McCall AA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 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
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2009
Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.
van Drunen FJ et al.
Audiology & Neuro-otology, 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
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