扩张型心肌病中肌联蛋白截短变异体：不仅关乎左心室射血分数恢复，还涉及维持。 - Suppr

Truncating titin variants in dilated cardiomyopathy: not only LVEF recovery, but also maintenance.

作者信息

Valverde-Gómez María, Salguero-Bodes Rafael, Martín-Arriscado Cristina, Delgado-Jiménez Juan, Arribas-Ynsaurriaga Fernando, Palomino-Doza Julián

机构信息

Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain; Instituto de Investigación i+12, Hospital Universitario 12 de Octubre, Madrid, Spain; Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain.

出版信息

Rev Esp Cardiol (Engl Ed). 2020 Jul;73(7):589-592. doi: 10.1016/j.rec.2019.12.005. Epub 2020 Feb 5.

DOI:10.1016/j.rec.2019.12.005

PMID:32035810

Abstract

摘要

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Truncating titin variants in dilated cardiomyopathy: not only LVEF recovery, but also maintenance.扩张型心肌病中肌联蛋白截短变异体：不仅关乎左心室射血分数恢复，还涉及维持。

Rev Esp Cardiol (Engl Ed). 2020 Jul;73(7):589-592. doi: 10.1016/j.rec.2019.12.005. Epub 2020 Feb 5.

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.围产期心肌病和扩张型心肌病的共同遗传易感性。

N Engl J Med. 2016 Jan 21;374(3):233-41. doi: 10.1056/NEJMoa1505517. Epub 2016 Jan 6.

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.

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.

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.

Stretch your heart-but not too far: The role of titin mutations in dilated cardiomyopathy.拉伸你的心脏——但别过度：肌联蛋白突变在扩张型心肌病中的作用

J Thorac Cardiovasc Surg. 2018 Jul;156(1):209-214. doi: 10.1016/j.jtcvs.2017.10.160. Epub 2018 Mar 12.

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.

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.

Clinical Considerations for a Family with Dilated Cardiomyopathy, Sudden Cardiac Death, and a Novel Frameshift Mutation.家族性扩张型心肌病、心源性猝死及新型框移突变的临床考虑

Int J Mol Sci. 2021 Jan 12;22(2):670. doi: 10.3390/ijms22020670.

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.扩张型心肌病中的肌联蛋白截短变异体——患病率及基因型-表型相关性

PLoS One. 2017 Jan 3;12(1):e0169007. doi: 10.1371/journal.pone.0169007. eCollection 2017.

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Truncating titin variants in dilated cardiomyopathy: not only LVEF recovery, but also maintenance.

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