Hearts and Hands: the good, the bad, and the ugly.
作者信息
van Berlo Jop H, Garry Daniel J
机构信息
Lillehei Heart Institute, University of Minnesota, Minneapolis, MN, USA.
Stem Cell Institute, University of Minnesota, Minneapolis, MN, USA.
出版信息
Cardiovasc Res. 2020 Mar 1;116(3):470-472. doi: 10.1093/cvr/cvz273.
Abstract
摘要
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本文引用的文献
1
HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure.胚胎心肌中的 HAND1 功能丧失导致可存活的先天性心脏缺陷和成年心力衰竭。
Cardiovasc Res. 2020 Mar 1;116(3):605-618. doi: 10.1093/cvr/cvz182.
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Global genetic analysis in mice unveils central role for cilia in congenital heart disease.对小鼠的全基因组分析揭示了纤毛在先天性心脏病中的核心作用。
Nature. 2015 May 28;521(7553):520-4. doi: 10.1038/nature14269. Epub 2015 Mar 25.
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Transcription factor pathways and congenital heart disease.转录因子通路与先天性心脏病。
Curr Top Dev Biol. 2012;100:253-77. doi: 10.1016/B978-0-12-387786-4.00008-7.
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Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.左心发育不全综合征中的新生突变和罕见变异的鉴定。
Clin Genet. 2012 Jun;81(6):542-54. doi: 10.1111/j.1399-0004.2011.01674.x. Epub 2011 Apr 25.
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Images in cardiovascular medicine. Mitral arcade: a rare cause of fatigue in an 18-year-old female.
Circulation. 2010 Apr 20;121(15):e379-83. doi: 10.1161/CIR.0b013e3181db1ee4.
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A functional genetic study identifies HAND1 mutations in septation defects of the human heart.一项功能基因研究确定了人类心脏分隔缺陷中的HAND1突变。
Hum Mol Genet. 2009 Oct 1;18(19):3567-78. doi: 10.1093/hmg/ddp305. Epub 2009 Jul 7.
7
A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts.HAND1结合结构域中的功能丧失突变预示着人类心脏发育不全。
Hum Mol Genet. 2008 May 15;17(10):1397-405. doi: 10.1093/hmg/ddn027. Epub 2008 Feb 14.
8
The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner.Hand1和Hand2转录因子以基因剂量依赖的方式调节胚胎心脏心室的扩张。
Development. 2005 Jan;132(1):189-201. doi: 10.1242/dev.01562. Epub 2004 Dec 2.
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PKA, PKC, and the protein phosphatase 2A influence HAND factor function: a mechanism for tissue-specific transcriptional regulation.蛋白激酶A、蛋白激酶C和蛋白磷酸酶2A影响HAND因子功能：一种组织特异性转录调控机制。
Mol Cell. 2003 Nov;12(5):1225-37. doi: 10.1016/s1097-2765(03)00425-8.
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The incidence of congenital heart disease.先天性心脏病的发病率。
J Am Coll Cardiol. 2002 Jun 19;39(12):1890-900. doi: 10.1016/s0735-1097(02)01886-7.
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