A pore-localizing CACNA1C-E1115K missense mutation, identified in a patient with idiopathic QT prolongation, bradycardia, and autism spectrum disorder, converts the L-type calcium channel into a hybrid nonselective monovalent cation channel
Author:
Funder
Mayo Clinic
Publisher
Elsevier BV
Subject
Physiology (medical),Cardiology and Cardiovascular Medicine
Reference31 articles.
1. L-type Ca(2+) current in ventricular cardiomyocytes;Benitah;J Mol Cell Cardiol,2010
2. Supramolecular assemblies and localized regulation of voltage-gated ion channels;Dai;Physiol Rev,2009
3. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome;Boczek;Circ Cardiovasc Genet,2013
4. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations;Splawski;Proc Natl Acad Sci U S A,2005
5. Identification and functional characterization of a novel CACNA1C-mediated cardiac disorder characterized by prolonged QT intervals with hypertrophic cardiomyopathy, congenital heart defects, and sudden cardiac death;Boczek;Circ Arrhythm Electrophysiol,2015
Cited by 19 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. Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model;Heart Rhythm;2023-01
2. L-Type Ca2+ Channels and Cardiac Arrhythmias;Heart Rate and Rhythm;2023
3. Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly;Scientific Reports;2022-11-08
4. Why not try to predict autism spectrum disorder with crucial biomarkers in cuproptosis signaling pathway?;Frontiers in Psychiatry;2022-11-02
5. Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome;PLOS ONE;2022-07-21
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