NovelCOCHp.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion-Reference-Cited by-同舟云学术

NovelCOCHp.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion

Published:2015-08-27 Issue:12 Volume:36 Page:1168-1175
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Jung Jinsei¹,Kim Han Sang²³,Lee Min Goo²³,Yang Eun Jin⁴,Choi Jae Young¹

Affiliation:

1. Department of Otorhinolaryngology; Yonsei University College of Medicine; Seoul Republic of Korea

2. Department of Pharmacology; Yonsei University College of Medicine; Seoul Republic of Korea

3. Brain Korea 21 PLUS Project for Medical Science; Yonsei University College of Medicine; Seoul Republic of Korea

4. Clinical Research Division; Korea Institute of Oriental Medicine; Daejeon Republic of Korea

Funder

National Research Foundation of Korea (NRF)

Ministry of Science, ICT & Future Planning, Korean government

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder;Bae;Hum Mutat,2014

2. A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain;Cho;J Mol Med (Berl),2012

3. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y;Gao;Clin Genet,2013

4. Rescue of DeltaF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway;Gee;Cell,2011

5. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin;Grabski;Hum Genet,2003

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