Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/jhg200769.pdf
Reference24 articles.
1. Bespalova IN, Van Camp G, Bom SJH, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM (2001) Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 10:2501–2508
2. Cryns K, Pfister M, Pennings RJE, Bom SJH, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CWRJ3, Smith RJH, Van Camp G (2002) Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 110:389–394
3. Cryns K, Thys S, Van Laer L, Oka Y, Pfister M, Van Nassauw L, Smith RJ, Timmermans JP, Van Camp G (2003a) The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol 119(3):247–256
4. Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G (2003b) Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat 22(4):275–287
5. Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L (2006) Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet 43(5):435–440
Cited by 53 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. Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production;Cell Death & Disease;2023-06-29
2. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01
3. WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome;BMC Medical Genomics;2023-04-11
4. Novel WFS1 mutations in patients with low-to-middle frequency hearing loss;International Journal of Pediatric Otorhinolaryngology;2023-04
5. Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production;2023-01-31
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