Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss-Reference-Cited by-同舟云学术

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Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss

Published:2013-01 Issue:1 Volume:1832 Page:285-291
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Oh Se-Kyung,Choi Soo-Young,Yu Song Hee,Lee Kyu-Yup,Hong Jeong Hwa,Hur Sung Won,Kim Sang Jeong,Jeon Chang-Jin,Kim Un-Kyung

Funder

Basic Science Research Program

National Research Foundation of Korea

Ministry of Education, Science and Technology

Korea Healthcare Technology R&D Project

Ministry for Health, Welfare and Family Affairs, Republic of Korea

TJ Park Science Fellowship

POSCO Foundation of Korea

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference35 articles.

1. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis;Kikuchi;Anat. Embryol. (Berl.),1995

2. Intercellular junctional maturation in the stria vascularis: possible association with onset and rise of endocochlear potential;Souter;Hear. Res.,1998

3. Diverse functions of vertebrate gap junctions;Simon;Trends Cell Biol.,1998

4. Genetic diseases and gene knockouts reveal diverse connexin functions;White;Annu. Rev. Physiol.,1999

5. Connections with connexins: the molecular basis of direct intercellular signaling;Bruzzone;Eur. J. Biochem.,1996

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1. A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update;Frontiers in Genetics;2022-05-23

2. Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden;Life;2020-10-28

3. Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology;Audiology Research;2019-11-05

4. The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions;International Journal of Pediatric Otorhinolaryngology;2019-09

5. The Mitochondrial tRNAHis G12192A Mutation May Modulate the Clinical Expression of Deafness-Associated tRNAThr G15927A Mutation in a Chinese Pedigree;Current Molecular Medicine;2019-05-13

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