Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death
Author:
Funder
National Heart, Lung, and Blood Institute
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference57 articles.
1. Diagnosis and treatment of sick sinus syndrome;V Adan;Am Fam Physician,2003
2. The sick sinus syndrome;MI Ferrer;Circulation,1973
3. Congenital familial nodal rhythm;JM Bacos;Circulation,1960
4. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A);DW Benson;J Clin Invest,2003
5. Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel;R Milanesi;N Engl J Med,2006
Cited by 32 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. LMNA-Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-Derived iPSC Differentiation Support Cell Type and Lineage-Specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency;Cells;2024-09-03
2. The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models;Pharmaceuticals;2024-08-05
3. LMNA-Related Dilated Cardiomyopathy: Single-Cell Transcriptomics during Patient-derived iPSC Differentiation Support Cell type and Lineage-specific Dysregulation of Gene Expression and Development for Cardiomyocytes and Epicardium-Derived Cells with Lamin A/C Haploinsufficiency;2024-06-14
4. The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease;International Journal of Molecular Sciences;2024-04-30
5. Primate Model Carrying LMNA Mutation Develops Dilated Cardiomyopathy;JACC: Basic to Translational Science;2024-03
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