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Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.

作者信息

Schönberger J, Seidman C E

机构信息

Cardiovascular Division and Howard Hughes Medical Institute, Brigham and Women's Hospital, and Department of Genetics, Harvard Medical School, Boston, MA, USA.

出版信息

Am J Hum Genet. 2001 Aug;69(2):249-60. doi: 10.1086/321978. Epub 2001 Jul 6.

DOI:10.1086/321978
PMID:11443548
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1235300/
Abstract
摘要

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本文引用的文献

1
Familial cardiomegaly.家族性心脏肥大。
Br Heart J. 1949 Jan;11(1):68-82. doi: 10.1136/hrt.11.1.68.
2
Adult mice deficient in actinin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy.缺乏肌动蛋白相关LIM结构域蛋白的成年小鼠揭示了右心室心肌病的发育途径。
Nat Med. 2001 May;7(5):591-7. doi: 10.1038/87920.
3
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.改变α-原肌球蛋白表面电荷的突变与扩张型心肌病有关。
J Mol Cell Cardiol. 2001 Apr;33(4):723-32. doi: 10.1006/jmcc.2000.1339.
4
Neuromuscular disorders: gene location.神经肌肉疾病：基因定位
Neuromuscul Disord. 2001 Jan;11(1):104-20.
5
Lamins and disease: insights into nuclear infrastructure.核纤层蛋白与疾病：对核结构的深入了解
Cell. 2001 Mar 9;104(5):647-50.
6
Molecular and cellular mechanisms of cardiac arrhythmias.心律失常的分子和细胞机制。
Cell. 2001 Feb 23;104(4):569-80. doi: 10.1016/s0092-8674(01)00243-4.
7
The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms.心肌病的遗传基础：从突变识别到机制范式
Cell. 2001 Feb 23;104(4):557-67. doi: 10.1016/s0092-8674(01)00242-2.
8
Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.心脏兰尼碱受体基因（hRyR2）的突变是儿茶酚胺能多形性室性心动过速的基础。
Circulation. 2001 Jan 16;103(2):196-200. doi: 10.1161/01.cir.103.2.196.
9
Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex.在缺乏平滑肌肌聚糖-肌联蛋白复合体的小鼠模型中预防心肌病
J Clin Invest. 2001 Jan;107(2):R1-7. doi: 10.1172/JCI11642.
10
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).在患有2型致心律失常性右室心肌病（ARVD2）的家族中鉴定心脏兰尼碱受体基因的突变。
Hum Mol Genet. 2001 Feb 1;10(3):189-94. doi: 10.1093/hmg/10.3.189.