Exon 3 deletion of ryanodine receptor causes left ventricular noncompaction, worsening catecholaminergic polymorphic ventricular tachycardia, and sudden cardiac arrest
Author:
Affiliation:
1. Department of Pediatrics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio
2. Department of Pediatrics; Cincinnati Children's Hospital Medical Center, The Heart Institute; Cincinnati Ohio
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference8 articles.
1. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies;Ackerman;Europace,2011
2. Expanding spectrum of human RYR2-related disease: New electrocardiographic, structural, and genetic features;Bhuiyan;Circulation,2007
3. Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RYR2 gene mutation: Evidence of specific morphological substrates;d'Amati;Hum Pathol,2005
4. Genetic evaluation of cardiomyopathy-A heart failure society of America practice guideline;Hershberger;J Card Fail,2009
5. Catecholaminergic polymorphic ventricular tachycardia;Liu;Prog Cardiovasc Dis,2008
Cited by 39 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. Copy number variations: The potential association genetic cause in severe cardiovascular diseases with unknown aetiology;Journal of Cellular and Molecular Medicine;2024-06
2. Catecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies;Journal of Clinical Medicine;2024-03-20
3. Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction;Cardiology in the Young;2023-11-29
4. Calcium Signaling Consequences of RyR2-S4938F Mutation Expressed in Human iPSC-Derived Cardiomyocytes;International Journal of Molecular Sciences;2023-10-18
5. RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers;Biochemical Journal;2023-09-01
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