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1
Titin Truncating Variants in Adults Without Known Congestive Heart Failure.成人中无已知充血性心力衰竭的肌联蛋白截短变体
J Am Coll Cardiol. 2020 Mar 17;75(10):1239-1241. doi: 10.1016/j.jacc.2020.01.013.
2
Titin-truncating variants are associated with heart failure events in patients with left ventricular non-compaction cardiomyopathy.肌联蛋白截断变异与左室心肌致密化不全患者心力衰竭事件相关。
Clin Cardiol. 2019 May;42(5):530-535. doi: 10.1002/clc.23172. Epub 2019 Apr 16.
3
Truncating Titin (TTN) Variants in Chemotherapy-Induced Cardiomyopathy.截断的肌联蛋白（TTN）变异与化疗诱导性心肌病。
J Card Fail. 2017 Jun;23(6):476-479. doi: 10.1016/j.cardfail.2017.03.003. Epub 2017 Mar 14.
4
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.解读肌肉疾病患者的肌联蛋白基因变异。
JAMA Neurol. 2018 May 1;75(5):557-565. doi: 10.1001/jamaneurol.2017.4899.
5
Dynamic Ejection Fraction Trajectory in Patients With Dilated Cardiomyopathy With a Truncating Titin Variant.患有截短型肌联蛋白变异的扩张型心肌病患者的动态射血分数轨迹
Circ Heart Fail. 2022 Aug;15(8):e009352. doi: 10.1161/CIRCHEARTFAILURE.121.009352. Epub 2022 May 11.
6
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.截断的肌联蛋白突变与扩张型心肌病的一种轻度且可治疗的形式有关。
Eur J Heart Fail. 2017 Apr;19(4):512-521. doi: 10.1002/ejhf.673. Epub 2016 Nov 3.
7
Role of titin in cardiomyopathy: from DNA variants to patient stratification.肌联蛋白在心肌病中的作用：从 DNA 变异到患者分层。
Nat Rev Cardiol. 2018 Apr;15(4):241-252. doi: 10.1038/nrcardio.2017.190. Epub 2017 Dec 14.
8
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation.肌联蛋白中的罕见截断变异与家族性和早发性心房颤动有关。
Nat Commun. 2018 Oct 17;9(1):4316. doi: 10.1038/s41467-018-06618-y.
9
Truncations of the titin Z-disc predispose to a heart failure with preserved ejection phenotype in the context of pressure overload.在压力超负荷的情况下，肌联蛋白 Z 盘的截断会导致射血分数保留型心力衰竭。
PLoS One. 2018 Jul 31;13(7):e0201498. doi: 10.1371/journal.pone.0201498. eCollection 2018.
10
Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation.一名患有新型TTN基因截短突变的患者围产期心肌病的严重病程及随后的康复情况
Am J Case Rep. 2018 Jul 12;19:820-824. doi: 10.12659/AJCR.909601.

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Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease.基因型优先策略在孟德尔心血管疾病诊治中的机遇与挑战。
J Am Heart Assoc. 2024 Nov 5;13(21):e033557. doi: 10.1161/JAHA.123.033557. Epub 2024 Oct 18.
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
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.心肌病相关基因中罕见变异的外显率：一种用于估计次要发现外显率的横断面方法。
Am J Hum Genet. 2023 Sep 7;110(9):1482-1495. doi: 10.1016/j.ajhg.2023.08.003. Epub 2023 Aug 30.
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Emerging Genotype-Phenotype Associations in Dilated Cardiomyopathy.扩张型心肌病的新兴基因型-表型关联。
Curr Cardiol Rep. 2022 Sep;24(9):1077-1084. doi: 10.1007/s11886-022-01727-z. Epub 2022 Jul 28.
5
Association of Pathogenic DNA Variants Predisposing to Cardiomyopathy With Cardiovascular Disease Outcomes and All-Cause Mortality.致心肌病的致病性 DNA 变异与心血管疾病结局和全因死亡率的相关性研究。
JAMA Cardiol. 2022 Jul 1;7(7):723-732. doi: 10.1001/jamacardio.2022.0901.
6
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.在英国生物银行的 20 万名个体中分析心血管代谢疾病和特征的罕见遗传变异。
Nat Genet. 2022 Mar;54(3):240-250. doi: 10.1038/s41588-021-01011-w. Epub 2022 Feb 17.
7
Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment.与肌联蛋白相关的扩张型心肌病：临床病程及循环生物标志物在临床评估中的作用
Diagnostics (Basel). 2021 Dec 22;12(1):13. doi: 10.3390/diagnostics12010013.
8
Progress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop.影像学基因组学在心脏和肺部疾病中的研究进展和优先事项：NHLBI 研讨会总结。
Circ Cardiovasc Imaging. 2021 Aug;14(8):e012943. doi: 10.1161/CIRCIMAGING.121.012943. Epub 2021 Aug 13.
9
Towards precision medicine in heart failure.迈向心力衰竭精准医学。
Nat Rev Cardiol. 2021 Nov;18(11):745-762. doi: 10.1038/s41569-021-00566-9. Epub 2021 Jun 9.
10
Refocusing on the Primary Prevention of Heart Failure.重新聚焦心力衰竭的一级预防。
Curr Treat Options Cardiovasc Med. 2020 Jul;22(7). doi: 10.1007/s11936-020-00811-3. Epub 2020 May 29.

本文引用的文献

1
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants.基于基因组优先的策略评估与截断性肌联蛋白变异相关的心脏病。
Circulation. 2019 Jul 2;140(1):42-54. doi: 10.1161/CIRCULATIONAHA.119.039573. Epub 2019 Jun 20.
2
Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.肌联蛋白功能丧失变异与早发性心房颤动的关联。
JAMA. 2018 Dec 11;320(22):2354-2364. doi: 10.1001/jama.2018.18179.
3
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.

Titin Truncating Variants in Adults Without Known Congestive Heart Failure.

作者信息

Pirruccello James P, Bick Alexander, Chaffin Mark, Aragam Krishna G, Choi Seung Hoan, Lubitz Steven A, Ho Carolyn Y, Ng Kenney, Philippakis Anthony, Ellinor Patrick T, Kathiresan Sekar, Khera Amit V

出版信息

J Am Coll Cardiol. 2020 Mar 17;75(10):1239-1241. doi: 10.1016/j.jacc.2020.01.013.

DOI:10.1016/j.jacc.2020.01.013
PMID:32164899
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7433750/
Abstract
摘要