A novelDFNA9mutation in the vWFA2 domain ofCOCHalters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction-Reference-Cited by-同舟云学术

A novelDFNA9mutation in the vWFA2 domain ofCOCHalters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction

Published:2005-12-01 Issue:2 Volume:139A Page:86-95
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Street Valerie A.,Kallman Jeremy C.,Robertson Nahid G.,Kuo Sharon F.,Morton Cynthia C.,Phillips James O.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9;Bom;Laryngoscope,1999

2. DNASTAR's Lasergene sequence analysis software;Burland;Methods Mol Biol,2000

3. Type A modules: Interacting domains found in several non-fibrillar collagens and in other extracellular matrix proteins;Colombatti;Matrix,1993

4. The interaction of the von Willebrand factor-A1 domain with platelet glycoprotein Ib/IX. The role of glycosylation and disulfide bonding in a monomeric recombinant A1 domain protein;Cruz;J Biol Chem,1993

5. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects;de Kok;Hum Mol Genet,1999

Cited by 58 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The cochlear matrisome: Importance in hearing and deafness;Matrix Biology;2024-01

2. A Novel COCH p.D544Vfs*3 Variant Associated with DFNA9 Sensorineural Hearing Loss Causes Pathological Multimeric Cochlin Formation;Life;2023-12-25

3. 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

4. Radiologic Features in Cochlear Implant Candidates: A Prospective Study Comparing Candidates Carrying the p.Pro51Ser Mutation in Coagulation Factor C Homology With Noncarriers;Otology & Neurotology;2022-08-20

5. Population-scale analysis of common and rare genetic variation associated with hearing loss in adults;Communications Biology;2022-06-03