The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference18 articles.
1. Congenital long QT syndrome;Crotti;Orphanet. J. Rare. Dis.,2008
2. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2;Splawski;Circulation,2000
3. LQT4 gene: the “missing” ankyrin;Yong;Mol. Interv.,2003
4. Andersen’s syndrome mutation effects on the structure and assembly of the cytoplasmic domains of Kir2.1;Pegan;Biochemistry,2006
5. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism;Splawski;Cell,2004
Cited by 7 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. Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes;Frontiers in Cardiovascular Medicine;2022-05-13
2. Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss;Disease Models & Mechanisms;2021-11-01
3. Generation and characterization of the human induced pluripotent stem cell (hiPSC) line NCUFi001-A from a patient carrying KCNQ1 G314S mutation;Stem Cell Research;2021-07
4. Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation;Scientific Reports;2021-02-11
5. Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance;Circulation: Cardiovascular Genetics;2017-10
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