Novel KCNB1 mutation associated with non-syndromic intellectual disability-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel KCNB1 mutation associated with non-syndromic intellectual disability

Published:2016-12-08 Issue:5 Volume:62 Page:569-573
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Latypova Xénia,Matsumoto Naomichi,Vinceslas-Muller Cécile,Bézieau Stéphane,Isidor Bertrand,Miyake Noriko

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/jhg2016154.pdf

Reference14 articles.

1. Villa, C. & Combi, R. Potassium channels and human epileptic phenotypes: an updated overview. Front. Cell Neurosci. 10, 81 (2016).

2. Ottschytsch, N., Raes, A., Van Hoorick, D. & Snyders, D. J. Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. Proc. Natl Acad. Sci. USA 99, 7986–7991 (2002).

3. Blaine, J. T. & Ribera, A. B. Heteromultimeric potassium channels formed by members of the Kv2 subfamily. J. Neurosci. Off. J. Soc. Neurosci. 18, 9585–9593 (1998).

4. Choe, S. Potassium channel structures. Nat. Rev. Neurosci. 3, 115–121 (2002).

5. Trimmer, J. S. Immunological identification and characterization of a delayed rectifier K+ channel polypeptide in rat brain. Proc. Natl Acad. Sci. USA 88, 10764–10768 (1991).

Cited by 33 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. Mutant analysis of Kcng4b reveals how the different functional states of the voltage-gated potassium channel regulate ear development;Developmental Biology;2024-09

2. Neurocardiac pathologies associated with potassium channelopathies;Epilepsia;2024-08

3. Therapeutic Targeting of Potassium Channels;Ion Channels as Targets in Drug Discovery;2024

4. Two non-familial cases of Galloway-Mowat syndrome carrying the homozygous mutations of WDR73 and TP53RK;Scientia Medica;2023-10-17

5. Ion channels in neurodevelopment: lessons from the Integrin-KCNB1 channel complex;Neural Regeneration Research;2023-03-15

同舟云学术

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