Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants
Author:
Affiliation:
1. Department of Legal Medicine, Hyogo College of Medicine
2. Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital
Publisher
International Heart Journal (Japanese Heart Journal)
Subject
Cardiology and Cardiovascular Medicine,General Medicine
Link
https://www.jstage.jst.go.jp/article/ihj/61/5/61_20-155/_pdf
Reference32 articles.
1. 1. Soares P, Rocha G, Pissarra H, et al. Neonatal dilated cardiomyopathy. Rev Port Cardiol 2017; 36: 201-14.
2. 2. Takeshima H, Komazaki S, Nishi M, Iino M, Kangawa K. Junctophilins: A novel family of junctional membrane complex proteins. Molecular Cell 2000; 6: 11-22.
3. 3. Beavers DL, Landstrom AP, Chiang DY, Wehrens XH. Emerging roles of junctophilin-2 in the heart and implications for cardiac diseases. Cardiovasc Res 2014; 103: 198-205.
4. 4. Sabater-Molina M, Navarro M, Garcia-Molina Saez E, et al. Mutation in JPH2 cause dilated cardiomyopathy. Clin Genet 2016; 90: 468-9.
5. 5. Vanninen SUM, Leivo K, Seppala EH, et al. Heterozygous junctophilin-2 (JPH2) p. (Thr161Lys) is a monogenic cause for HCM with heart failure. PLoS One 2018; 13: e.0203422.
Cited by 13 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. Molecular autopsy for sudden death in Japan;Journal of Toxicologic Pathology;2024
2. Structure, Function, and Regulation of the Junctophilin Family;Annual Review of Physiology;2023-11-06
3. Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies;Nature Cardiovascular Research;2023-10-09
4. Identification of biomarkers, pathways, and potential therapeutic targets for heart failure using next-generation sequencing data and bioinformatics analysis;Therapeutic Advances in Cardiovascular Disease;2023-01
5. Polycystin-1 Is a Crucial Regulator of BIN1 Expression and T-Tubule Remodeling Associated with the Development of Dilated Cardiomyopathy;International Journal of Molecular Sciences;2022-12-30
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