Loss of Filamin C Is Catastrophic for Heart Function.
作者信息
Zhou Yangzhao, Chen Ze'e, Zhang Lunfeng, Zhu Mason, Tan Changming, Zhou Xinmin, Evans Sylvia M, Fang Xi, Feng Wei, Chen Ju
机构信息
Departments of Medicine-Cardiology (Y.Z., Z.C., L.Z., M.Z., C.T., S.M.E., X.F., W.F., J.C.), University of California San Diego, La Jolla.
Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China (Y.Z., C.T., X.Z.).
出版信息
Circulation. 2020 Mar 10;141(10):869-871. doi: 10.1161/CIRCULATIONAHA.119.044061. Epub 2020 Mar 9.
Abstract
摘要
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本文引用的文献
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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.伴有心肌病的家族性扩张型心肌病相关 FLNC 致病性变异：患病率及基因型-表型相关性。
Clin Genet. 2019 Oct;96(4):317-329. doi: 10.1111/cge.13594. Epub 2019 Jul 18.
2
Kindlin-2 Is Essential for Preserving Integrity of the Developing Heart and Preventing Ventricular Rupture.Kindlin-2对于维持发育中心脏的完整性和预防心室破裂至关重要。
Circulation. 2019 Mar 19;139(12):1554-1556. doi: 10.1161/CIRCULATIONAHA.118.038383.
3
Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.由细丝蛋白C双等位基因突变引起的先天性扩张型心肌病。
Eur J Hum Genet. 2016 Dec;24(12):1792-1796. doi: 10.1038/ejhg.2016.110. Epub 2016 Sep 7.
4
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure.细丝蛋白C（FLNc）的缺失会导致肌生成和肌管结构出现严重缺陷。
Mol Cell Biol. 2006 Sep;26(17):6522-34. doi: 10.1128/MCB.00243-06.
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Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP.异常剪接事件导致不同的Xin异构体，这些异构体与细丝蛋白c和Mena/VASP的结合存在差异。
Exp Cell Res. 2006 Jul 1;312(11):2154-67. doi: 10.1016/j.yexcr.2006.03.015. Epub 2006 Apr 24.
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