A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall
Author:
Funder
NIH
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Neurology
Reference56 articles.
1. Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness;Ahmad;Proc. Natl. Acad. Sci. U. S. A.,2007
2. The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children;Asma;Med J Malaysia,2011
3. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling;Batissoco;Ear Hear.,2009
4. Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6;Bolz;Hear. Res.,2004
5. Hearing is normal without connexin30;Boulay;J. Neurosci.,2013
Cited by 51 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. Genetic analysis of 106 sporadic cases with hearing loss in the UAE population;Human Genomics;2024-06-07
2. Prevention and treatment of noise-induced hearing loss and cochlear synapse degeneration by potassium channel blockersin vivo;2024-06-06
3. Molecular differences between neonatal and adult stria vascularis from organotypic explants and transcriptomics;2024-04-25
4. Assembly mechanisms of the neuronal gap junction channel connexin 36 elucidated by Cryo-EM;Archives of Biochemistry and Biophysics;2024-04
5. Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles;Children;2024-02-03
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3