Novel COCH mutation in a family with autosomal dominant late onset sensorineural hearing impairment and tinnitus
Author:
Publisher
Elsevier BV
Subject
Otorhinolaryngology
Reference18 articles.
1. A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13;Manolis;Hum Mol Genet,1996
2. Identification of the protein product of the Coch gene (hereditary deafness gene) as the major component of bovine inner ear protein;Ikenzono;Biochim Biophys Acta,2001
3. The human genome browser at UCSC;Kent;Genome Res,2002
4. Role of protein misfolding in DFNA9 hearing loss;Yao;J Biol Chem,2010
5. 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;Am J Med Genet,2005
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1. Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome;Human Genetics;2023-04-22
2. Assessing Variants of Uncertain Significance Implicated in Hearing Loss Using a Comprehensive Deafness Proteome;2023-02-01
3. Accelerated Cognitive Decline Associated With Hearing Loss and Bilateral Vestibulopathy: Insights From a Prospective Cross-Sectional Study Using the Repeatable Battery for the Assessment of Neuropsychological Status Adjusted for the Hearing Impaired in the DFNA9 Population;Ear & Hearing;2022-12-20
4. Pathogenic Variants in the COCH Gene That Lead to Hearing Loss and Vestibular Deficit: Update on DFNA9 and Introducing DFNB110;B-ENT;2022-10-27
5. Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis;Biomolecules;2022-01-27
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