Suppr超能文献

人类心血管疾病的遗传学。

Genetics of human cardiovascular disease.

机构信息

Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA 02114, USA.

出版信息

Cell. 2012 Mar 16;148(6):1242-57. doi: 10.1016/j.cell.2012.03.001.

Abstract

Cardiovascular disease encompasses a range of conditions extending from myocardial infarction to congenital heart disease, most of which are heritable. Enormous effort has been invested in understanding the genes and specific DNA sequence variants that are responsible for this heritability. Here, we review the lessons learned for monogenic and common, complex forms of cardiovascular disease. We also discuss key challenges that remain for gene discovery and for moving from genomic localization to mechanistic insights, with an emphasis on the impact of next-generation sequencing and the use of pluripotent human cells to understand the mechanism by which genetic variation contributes to disease.

摘要

心血管疾病包括一系列从心肌梗死到先天性心脏病的病症,其中大多数是遗传性的。人们投入了巨大的努力来了解导致这种遗传性的基因和特定的 DNA 序列变异。在这里,我们回顾了单基因和常见复杂形式的心血管疾病的经验教训。我们还讨论了基因发现和从基因组定位到机制见解的关键挑战,重点是下一代测序的影响以及利用多能人类细胞来理解遗传变异对疾病的贡献机制。

相似文献

1
Genetics of human cardiovascular disease.人类心血管疾病的遗传学。
Cell. 2012 Mar 16;148(6):1242-57. doi: 10.1016/j.cell.2012.03.001.
2
Height matters-from monogenic disorders to normal variation.身高很重要——从单基因疾病到正常变异。
Nat Rev Endocrinol. 2013 Mar;9(3):171-7. doi: 10.1038/nrendo.2012.251. Epub 2013 Jan 22.
3
Genetics of Common, Complex Coronary Artery Disease.常见复杂冠状动脉疾病的遗传学
Cell. 2019 Mar 21;177(1):132-145. doi: 10.1016/j.cell.2019.02.015.
4
Rare variants and cardiovascular disease.罕见变异与心血管疾病。
Brief Funct Genomics. 2014 Sep;13(5):384-91. doi: 10.1093/bfgp/elu010. Epub 2014 Apr 26.
7

引用本文的文献

本文引用的文献

5
Genomics of cardiovascular disease.心血管疾病的基因组学
N Engl J Med. 2011 Dec 1;365(22):2098-109. doi: 10.1056/NEJMra1105239.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验