Identification of Pathogenic Mechanisms ofCOCHMutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype-Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder-Reference-Cited by-同舟云学术

Identification of Pathogenic Mechanisms ofCOCHMutations, Abolished Cochlin Secretion, and Intracellular Aggregate Formation: Genotype-Phenotype Correlations in DFNA9 Deafness and Vestibular Disorder

Published:2014-11-24 Issue:12 Volume:35 Page:1506-1513
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bae Seung-Hyun¹²,Robertson Nahid G.³,Cho Hyun-Ju¹,Morton Cynthia C.⁴⁵,Jung Da Jung⁶,Baek Jeong-In⁷,Choi Soo-Young⁷,Lee Jaetae⁸,Lee Kyu-Yup⁶,Kim Un-Kyung¹²

Affiliation:

1. Department of Biology; College of Natural Sciences; Kyungpook National University; Daegu South Korea

2. School of Life Sciences; KNU Creative BioResearch Group (BK21 plus program); Kyungpook National University; Daegu South Korea

3. Department of Obstetrics and Gynecology; Brigham and Women's Hospital; Boston Massachusetts

4. Departments of Obstetrics and Gynecology and Pathology; Brigham and Women's Hospital; Harvard Medical School; Boston Massachusetts

5. Broad Institute; Cambridge Massachusetts

6. Department of Otolaryngology; College of Medicine; Kyungpook National University; Daegu South Korea

7. Department of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

8. Department of Nuclear Medicine; Kyungpook National University School of Medicine; Daegu Republic of Korea

Funder

Korea Health Technology R&D Project

Ministry of Health & Welfare

Republic of Korea

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22701/fullpdf

Reference42 articles.

1. The Trp117Arg mutation of the COCH gene causes deafness in Koreans;Baek;Clin Genet,2010

2. Increased frequencies of cochlin-specific T cells in patients with autoimmune sensorineural hearing loss;Baek;J Immunol,2006

3. The role of the hydroxy amino acid in the triplet sequence Asn-Xaa-Thr(Ser) for the N-glycosylation step during glycoprotein biosynthesis;Bause;Biochem J,1981

4. COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases;Boulassel;Otol Neurotol,2001

5. Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family;Chen;Int J Pediatr Otorhinolaryngol,2013

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