Loss of PRDM16 Is Unlikely to Cause Cardiomyopathy in 1p36 Deletion Syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference2 articles.
1. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy;Arndt;Am. J. Hum. Genet.,2013
2. Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes;Keppler-Noreuil;J. Med. Genet.,1995
Cited by 10 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. Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-β Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice;Circulation: Heart Failure;2023-12
2. The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype;Journal of Cardiovascular Translational Research;2023-11-29
3. PRDM16 Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study;Circulation: Genomic and Precision Medicine;2023-08
4. Prdm16 Deficiency Leads to Age-Dependent Cardiac Hypertrophy, Adverse Remodeling, Mitochondrial Dysfunction, and Heart Failure;Cell Reports;2020-10
5. Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants;Genetics in Medicine;2020-02
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