A Novel Dominant Mutation in Plakoglobin Causes Arrhythmogenic Right Ventricular Cardiomyopathy
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference29 articles.
1. Right ventricular cardiomyopathy and sudden death in young people;Thiene;N Engl J Med,1988
2. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease);McKoy;Lancet,2000
3. Localizing the adhesive and signaling functions of plakoglobin;Rubenstein;Dev Genet,1997
4. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy;Rampazzo;Am J Hum Genet,2002
5. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy;Gerull;Nat Genet,2004
Cited by 201 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. Combination of FLNC and JUP variants causing arrhythmogenic cardiomyopathy in an Iranian family with different clinical features;BMC Cardiovascular Disorders;2024-08-23
2. In Vivo Approaches to Understand Arrhythmogenic Cardiomyopathy: Perspectives on Animal Models;Cells;2024-07-27
3. The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies;Trends in Cardiovascular Medicine;2024-07
4. The role of desmoglein-2 in kidney disease;Kidney International;2024-05
5. Unbiased complexome profiling and global proteomics analysis reveals mitochondrial impairment and potential changes at the intercalated disk in presymptomatic R14Δ/+mice hearts;2024-03-26
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