A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Human Molecular Genetics

• Publication date

  2008-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/hmg/ddn236PMID 18697796PMCID PMC2566528
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families

  2008influential reference
• Phenotype Description of a Novel DFNA9/COCH Mutation, I109T

  2007cited by this paper
• Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

  2006cited by this paper
• Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.

  2006influential reference
• Increased Frequencies of Cochlin-Specific T Cells in Patients with Autoimmune Sensorineural Hearing Loss1

  2006cited by this paper
• Antibody reactivity to heat shock protein 70 and inner ear‐specific proteins in patients with idiopathic sensorineural hearing loss

  2006cited by this paper
• Audiometric, Vestibular, and Genetic Aspects of a DFNA9 Family with a G88E COCH Mutation

  2005influential reference
• 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

  2005cited by this paper
• Vestibular Deterioration Precedes Hearing Deterioration in the P51S COCH Mutation (DFNA9): An Analysis in 74 Mutation Carriers

  2005cited by this paper
• Gravity receptor function in mice with graded otoconial deficiencies.

  2004cited by this paper
• Sex differences in distortion product otoacoustic emissions as a function of age in CBA mice.

  2004cited by this paper
• A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss

  2004cited by this paper
• Identification of a novel Cochlin isoform in the perilymph: insights to Cochlin function and the pathogenesis of DFNA9.

  2004cited by this paper
• Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease

  2003cited by this paper
• Stimulus and recording variables and their effects on mammalian vestibular evoked potentials.

  2002cited by this paper
• Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein.

  2001cited by this paper
• NMR structure of the LCCL domain and implications for DFNA9 deafness disorder

  2001cited by this paper
• COCH5B2 Is a Target Antigen of Anti-Inner Ear Antibodies in Autoimmune Inner Ear Diseases

  2001cited by this paper
• Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families

  2001cited by this paper
• Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.

  2001cited by this paper
• Age-related loss of distortion product otoacoustic emissions in four mouse strains.

  1999cited by this paper
• High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.

  1999cited by this paper
• A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

  1999cited by this paper
• Vestibular responses to linear acceleration are absent in otoconia-deficient C57BL/6JEi-het mice.

  1999cited by this paper
• Short latency compound action potentials from mammalian gravity receptor organs.

  1999cited by this paper
• Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

  1998cited by this paper
• Efficient in vivo manipulation of mouse genomic sequences at the zygote stage.

  1996cited by this paper
• Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.

  1994cited by this paper
• Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development

  1994cited by this paper
• Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease.

  1979cited by this paper

• Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review

  2025cites this paper
• Dissecting the genome in Ménière disease: a review

  2025cites this paper
• [The cochlear extracellular matrix gene mutations and hearing loss].

  2025cites this paper
• The Cochlear Matrisome: Importance in Hearing and Deafness.

  2023cites this paper
• Rational design of a genomically humanized mouse model for dominantly inherited hearing loss, DFNA9.

  2023cites this paper
• Involvement of cochlin binding to sulfated heparan sulfate/heparin in the pathophysiology of autosomal dominant late-onset hearing loss (DFNA9)

  2022cites this paper
• Defining the spatial-molecular map of fibrotic tendon healing and the drivers of Scleraxis-lineage cell fate and function

  2022cites this paper
• Cochlin Deficiency Protects Aged Mice from Noise-Induced Hearing Loss

  2021cites this paper
• Human induced pluripotent stem cells and CRISPR/Cas‐mediated targeted genome editing: Platforms to tackle sensorineural hearing loss

  2021cites this paper
• Cochlin Deficiency Protects Against Noise-Induced Hearing Loss

  2021cites this paper
• Defining the activation profile and fate trajectory of adult Scleraxis-lineage cells during tendon healing by combining lineage tracing and spatial transcriptomics

  2021cites this paper
• LCCL peptide cleavage after noise exposure exacerbates hearing loss and is associated with the monocyte infiltration in the cochlea.

  2021cites this paper
• Attitudes of Potential Participants Towards Potential Gene Therapy Trials in Autosomal Dominant Progressive Sensorineural Hearing Loss

  2020cites this paper
• Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss

  2020cites this paper
• On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.

  2020cites this paper
• Making the Case for Research on Disease-Modifying Treatments to Tackle Post-lingual Progressive Sensorineural Hearing Loss.

  2020cites this paper
• Cochlear histopathology in human genetic hearing loss: State of the science and future prospects.

  2019cites this paper
• A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene

  2019cites this paper
• Cleaved Cochlin Sequesters Pseudomonas aeruginosa and Activates Innate Immunity in the Inner Ear.

  2019cites this paper
• Does Otovestibular Loss in the Autosomal Dominant Disorder DFNA9 Have an Impact of on Cognition? A Systematic Review

  2018cites this paper
• Electrophysiological Measurements of Peripheral Vestibular Function—A Review of Electrovestibulography

  2017cites this paper
• Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea

  2016cites this paper
• Gene Expression Profiles of the Cochlea and Vestibular Endorgans

  2015cites this paper
• Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post‐Translational Cleavage and Secretion

  2015cites this paper
• Gene Expression Profiles of the Cochlea and Vestibular Endorgans: Localization and Function of Genes Causing Deafness

  2015cites this paper
• Preserved otolith organ function in caspase-3-deficient mice with impaired horizontal semicircular canal function

  2015cites this paper
• Identification of Pathogenic Mechanisms of COCH Mutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype–Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder

  2014cites this paper
• Focal Sclerosis of Semicircular Canals With Severe DFNA9 Hearing Impairment Caused by a P51S COCH-Mutation: Is There a Link?

  2014cites this paper
• Genetics of peripheral vestibular dysfunction: lessons from mutant mouse strains.

  2014cites this paper
• Cochlin in Normal Middle Ear and Abnormal Middle Ear Deposits in DFNA9 and CochG88E/G88E Mice

  2014cites this paper
• A conduit to amplify innate immunity.

  2013cites this paper
• Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear.

  2013cites this paper
• Genetics of Hearing and Deafness

  2012cites this paper
• Association Between Hearing Loss and Saccular Dysfunction in Older Individuals

  2012cites this paper
• Cochlin, Intraocular Pressure Regulation and Mechanosensing

  2012cites this paper
• Extralabyrinthine Manifestations of DFNA9

  2011cites this paper
• Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.

  2011cites this paper
• Role of Protein Misfolding in DFNA9 Hearing Loss*

  2010cites this paper
• Cochlear Transduction and the Molecular Basis of Auditory Pathology

  2010cites this paper
• A Case of Cochlear Implantation in a Patient with Mutation in the Coagulation Factor C Homology Gene(W117R)

  2010cites this paper
• Differential passage of gadolinium through the mouse inner ear barriers evaluated with 4.7T MRI.

  2010cites this paper
• Proteomics, bioinformatics and targeted gene expression analysis reveals up-regulation of cochlin and identifies other potential biomarkers in the mouse model for deafness in Usher syndrome type 1F.

  2010cites this paper
• Ultrastructural Localization of Cochlin in the Rat Cochlear Duct

  2009cites this paper
• Expression of Cochlin mRNA Splice Variants in the Inner Ear

  2009cites this paper
• Molecular biology of the DFNA9 hereditary hearing loss

  2009cites this paper
• Current world literature.

  2009cites this paper
• Slc4a11 Gene Disruption in Mice

  2009cites this paper
• Inheritance patterns of progressive hearing loss in laboratory strains of mice.

  2009cites this paper
• The second von Willebrand type A domain of cochlin has high affinity for type I, type II and type IV collagens

  2008cites this paper
• Human hereditary hearing impairment: mouse models can help to solve the puzzle

  2008cites this paper