Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy.
作者信息
Tayal Upasana, Newsome Simon, Buchan Rachel, Whiffin Nicola, Walsh Roddy, Barton Paul J, Ware James S, Cook Stuart A, Prasad Sanjay K
出版信息
J Am Coll Cardiol. 2017 May 16;69(19):2466-2468. doi: 10.1016/j.jacc.2017.03.530.
Abstract
摘要
相似文献
1
Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy.肌联蛋白的截短变异独立预测扩张型心肌病患者的早期心律失常。
J Am Coll Cardiol. 2017 May 16;69(19):2466-2468. doi: 10.1016/j.jacc.2017.03.530.
2
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences.肌节蛋白截断变异导致的扩张型心肌病：长期结局、心律失常、治疗反应和性别差异。
J Med Genet. 2021 Dec;58(12):832-841. doi: 10.1136/jmedgenet-2020-107178. Epub 2020 Oct 26.
3
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.首个与扩张型心肌病相关的肌联蛋白（c.59926 + 1G > A）奠基者突变。
Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23.
4
Titin-truncating mutations associated with dilated cardiomyopathy alter length-dependent activation and its modulation via phosphorylation.与扩张型心肌病相关的肌联蛋白截断突变改变了其依赖长度的激活及其通过磷酸化的调节。
Cardiovasc Res. 2022 Jan 7;118(1):241-253. doi: 10.1093/cvr/cvaa316.
5
Titin Allelic Expression and Protein Processing Pathways in Early-Stage Dilated Cardiomyopathy Patients With Truncating Titin Variants.携带截短型肌联蛋白变体的早期扩张型心肌病患者的肌联蛋白等位基因表达及蛋白质加工途径
Circ Genom Precis Med. 2023 Feb;16(1):e003901. doi: 10.1161/CIRCGEN.122.003901. Epub 2023 Jan 30.
6
Association of Titin-Truncating Genetic Variants With Life-threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators.肌联蛋白截断基因突变与植入式除颤器扩张型心肌病患者致命性心律失常的相关性。
JAMA Netw Open. 2019 Jun 5;2(6):e196520. doi: 10.1001/jamanetworkopen.2019.6520.
7
Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin.可变剪接、内部启动子、无义介导的衰变，还是三者皆有：解释肌联蛋白中截短变体的分布
Circ Cardiovasc Genet. 2016 Oct;9(5):419-425. doi: 10.1161/CIRCGENETICS.116.001513. Epub 2016 Sep 13.
8
The giant titin: how to evaluate its role in cardiomyopathies.巨大的肌联蛋白：如何评估其在心肌病中的作用。
J Muscle Res Cell Motil. 2019 Jun;40(2):159-167. doi: 10.1007/s10974-019-09518-w. Epub 2019 May 30.
9
Discovery of TITIN Gene Truncating Variant Mutations and 5-Year Outcomes in Patients With Nonischemic Dilated Cardiomyopathy.肌联蛋白基因突变的发现与非缺血性扩张型心肌病患者的 5 年预后。
Am J Cardiol. 2020 Dec 15;137:97-102. doi: 10.1016/j.amjcard.2020.09.026. Epub 2020 Sep 28.
10
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the Gene.基因突变导致扩张型心肌病的临床表型和预后。
Circ Heart Fail. 2020 Oct;13(10):e006832. doi: 10.1161/CIRCHEARTFAILURE.119.006832. Epub 2020 Sep 23.
引用本文的文献
1
Hypertensive Disorders of Pregnancy and Long-Term Risk of Dilated Cardiomyopathy.妊娠高血压疾病与扩张型心肌病的长期风险
JAMA Cardiol. 2025 May 1;10(5):498-502. doi: 10.1001/jamacardio.2025.0328.
2
Titin truncating variants, cardiovascular risk factors and the risk of atrial fibrillation and heart failure.肌联蛋白截断变异体、心血管风险因素与心房颤动和心力衰竭风险。
Nat Cardiovasc Res. 2024 Aug;3(8):899-906. doi: 10.1038/s44161-024-00511-2. Epub 2024 Jul 31.
3
Titin Cardiomyopathy Associated With Refractory Ventricular Tachycardia: A Case Report.与难治性室性心动过速相关的肌联蛋白心肌病：一例报告
Cureus. 2024 Jul 13;16(7):e64476. doi: 10.7759/cureus.64476. eCollection 2024 Jul.
4
Isolated ventricular noncompaction in a patient with a sarcomeric gene mutation: A case report.一名患有肌节基因突变患者的孤立性心室心肌致密化不全：病例报告。
HeartRhythm Case Rep. 2024 Apr 3;10(7):456-459. doi: 10.1016/j.hrcr.2024.03.017. eCollection 2024 Jul.
5
Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease.评估扩张型心肌病的遗传和表型特征与冠心病患者预后的相关性。
Eur J Heart Fail. 2024 Jan;26(1):46-55. doi: 10.1002/ejhf.3033. Epub 2023 Oct 5.
6
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients.患有肌联蛋白病的儿童中的双等位基因截短变异代表一种具有独特肌肉和心脏特征的可识别病症：五例患者报告
Front Cardiovasc Med. 2023 Jul 27;10:1210378. doi: 10.3389/fcvm.2023.1210378. eCollection 2023.
7
The pivotal role of ECG in cardiomyopathies.心电图在心肌病中的关键作用。
Front Cardiovasc Med. 2023 Jun 19;10:1178163. doi: 10.3389/fcvm.2023.1178163. eCollection 2023.
8
The Value of Multimodal Imaging in Early Phenotyping of Cardiomyopathies: A Family Case Report.多模态成像在心肌病早期表型分析中的价值：一例家族病例报告
J Pers Med. 2023 Apr 27;13(5):742. doi: 10.3390/jpm13050742.
9
The addition of genetic testing and cardiovascular magnetic resonance to routine clinical data for stratification of etiology in dilated cardiomyopathy.将基因检测和心血管磁共振检查加入常规临床数据中，用于扩张型心肌病病因分层。
Front Cardiovasc Med. 2022 Oct 6;9:1017119. doi: 10.3389/fcvm.2022.1017119. eCollection 2022.
10
Clinical Implication of Genetic Testing in Dilated Cardiomyopathy.基因检测在扩张型心肌病中的临床意义
Int J Heart Fail. 2021 Oct 21;4(1):1-11. doi: 10.36628/ijhf.2021.0024. eCollection 2022 Jan.
本文引用的文献
1
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.
2
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.健康与疾病状态下肌联蛋白截短对心脏影响的等位基因、转录组及表型组综合剖析
Sci Transl Med. 2015 Jan 14;7(270):270ra6. doi: 10.1126/scitranslmed.3010134.
3
Truncations of titin causing dilated cardiomyopathy.导致扩张型心肌病的肌联蛋白截短。
N Engl J Med. 2012 Feb 16;366(7):619-28. doi: 10.1056/NEJMoa1110186.
Zotero 插件