Arrhythmogenic Cardiomyopathy: Mechanotransduction Going Wrong.
作者信息
Mestroni Luisa, Sbaizero Orfeo
机构信息
University of Colorado-Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora (L.M.).
Department of Engineering and Architecture, University of Trieste, Italy (O.S.).
出版信息
Circulation. 2018 Apr 10;137(15):1611-1613. doi: 10.1161/CIRCULATIONAHA.118.033558.
Abstract
摘要
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本文引用的文献
1
Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.细丝蛋白 C 截断突变与致心律失常性扩张型心肌病和细胞-细胞黏附结构改变相关。
JACC Clin Electrophysiol. 2018 Apr;4(4):504-514. doi: 10.1016/j.jacep.2017.12.003. Epub 2018 Feb 2.
2
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.新型结蛋白突变 p.Glu401Asp 损害纤维丝形成，破坏细胞膜完整性，并导致严重的致心律失常性左室心肌病/发育不良。
Circulation. 2018 Apr 10;137(15):1595-1610. doi: 10.1161/CIRCULATIONAHA.117.028719. Epub 2017 Dec 6.
3
Arrhythmogenic Cardiomyopathy.致心律失常性右室心肌病
Circ Res. 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345.
4
Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.扩张型心肌病：遗传决定因素与机制
Circ Res. 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396.
5
Unmasking the molecular link between arrhythmogenic cardiomyopathy and Brugada syndrome.揭示致心律失常性右室心肌病与 Brugada 综合征的分子关联。
Nat Rev Cardiol. 2017 Dec;14(12):744-756. doi: 10.1038/nrcardio.2017.103. Epub 2017 Jul 13.
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Gene Splice Mutations Cause Dilated Cardiomyopathy.基因剪接突变导致扩张型心肌病。
JACC Basic Transl Sci. 2016 Aug;1(5):344-359. doi: 10.1016/j.jacbts.2016.05.004. Epub 2016 Jul 27.
7
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.截断型 FLNC 突变与高危扩张型和心律失常性心肌病相关。
J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927.
8
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.利用7855例心肌病病例和60706份参考样本重新评估孟德尔基因的致病性。
Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
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Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life-Threatening Arrhythmias.扩张型心肌病的致心律失常表型：自然病史及危及生命心律失常的预测因素
J Am Heart Assoc. 2015 Oct 16;4(10):e002149. doi: 10.1161/JAHA.115.002149.
10
Skeletal muscle intermediate filaments form a stress-transmitting and stress-signaling network.骨骼肌中间丝形成一个应力传递和应力信号网络。
J Cell Sci. 2015 Jan 15;128(2):219-24. doi: 10.1242/jcs.142463. Epub 2014 Nov 20.
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