Improving risk prediction in hypertrophic cardiomyopathy: the key role of Dutch founder variants.
作者信息
Walsh R, Pinto Y M
机构信息
Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers, location Academic Medical Center, University of Amsterdam, Heart Center, Amsterdam, The Netherlands.
出版信息
Neth Heart J. 2021 Jun;29(6):299-300. doi: 10.1007/s12471-021-01581-8. Epub 2021 May 10.
Abstract
摘要
相似文献
1
Improving risk prediction in hypertrophic cardiomyopathy: the key role of Dutch founder variants.改善肥厚型心肌病的风险预测：荷兰始祖变异的关键作用。
Neth Heart J. 2021 Jun;29(6):299-300. doi: 10.1007/s12471-021-01581-8. Epub 2021 May 10.
2
BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status.生物标志物助力心肌病防治：荷兰始祖截短型MYBPC3变异携带者肥厚型心肌病发生与进展的生物标志物——设计与现状
Neth Heart J. 2021 Jun;29(6):318-329. doi: 10.1007/s12471-021-01539-w. Epub 2021 Feb 2.
3
Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.舒张功能异常作为荷兰肌球蛋白结合蛋白C始祖突变型肥厚型心肌病的首要特征。
JACC Cardiovasc Imaging. 2009 Jan;2(1):58-64. doi: 10.1016/j.jcmg.2008.08.003.
4
Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.缺乏 CALR3 在单基因心肌病中起因果作用的证据。
Eur J Hum Genet. 2018 Nov;26(11):1603-1610. doi: 10.1038/s41431-018-0208-1. Epub 2018 Jul 9.
5
A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.一种荷兰人特有的MYH7基因创始突变，即p.(Asn1918Lys)，与早发性心肌病和先天性心脏缺陷有关。
Neth Heart J. 2017 Dec;25(12):675-681. doi: 10.1007/s12471-017-1037-5. Epub 2017 Sep 1.
6
Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients.寻找用于诊断东斯洛伐克患者肥厚型心肌病的候选序列变异体。
J Clin Lab Anal. 2018 Mar;32(3). doi: 10.1002/jcla.22303. Epub 2017 Aug 16.
7
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.新一代测序时代肥厚型心肌病中的多个基因变异
Circ Cardiovasc Genet. 2017 Aug;10(4). doi: 10.1161/CIRCGENETICS.116.001666.
8
Hypertrophic cardiomyopathy in myosin-binding protein C () Icelandic founder mutation carriers.肌球蛋白结合蛋白C（）冰岛始祖突变携带者中的肥厚型心肌病
Open Heart. 2020 Apr 5;7(1):e001220. doi: 10.1136/openhrt-2019-001220. eCollection 2020.
9
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.肥厚型心肌病家族中复发性和祖传性突变的负担
Circ Cardiovasc Genet. 2017 Jun;10(3). doi: 10.1161/CIRCGENETICS.116.001671.
10
Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.通过新一代测序分析与心肌病相关的选定基因。
J Clin Lab Anal. 2018 Feb;32(2). doi: 10.1002/jcla.22254. Epub 2017 Jun 8.
本文引用的文献
1
BIO FOr CARE: biomarkers of hypertrophic cardiomyopathy development and progression in carriers of Dutch founder truncating MYBPC3 variants-design and status.生物标志物助力心肌病防治：荷兰始祖截短型MYBPC3变异携带者肥厚型心肌病发生与进展的生物标志物——设计与现状
Neth Heart J. 2021 Jun;29(6):318-329. doi: 10.1007/s12471-021-01539-w. Epub 2021 Feb 2.
2
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.常见的遗传变异和可调节的风险因素是肥厚型心肌病易感性和表现性的基础。
Nat Genet. 2021 Feb;53(2):135-142. doi: 10.1038/s41588-020-00764-0. Epub 2021 Jan 25.
3
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.共同的遗传途径导致肥厚型和扩张型心肌病的风险增加，但其作用方向相反。
Nat Genet. 2021 Feb;53(2):128-134. doi: 10.1038/s41588-020-00762-2. Epub 2021 Jan 25.
4
Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?当代肥厚型心肌病遗传学研究进展：是否即将开启临床检测新纪元？
J Am Heart Assoc. 2020 Apr 21;9(8):e015473. doi: 10.1161/JAHA.119.015473. Epub 2020 Apr 18.
5
Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.肥厚型心肌病 NHLBI 登记处的不同亚组。
J Am Coll Cardiol. 2019 Nov 12;74(19):2333-2345. doi: 10.1016/j.jacc.2019.08.1057.
6
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).肥厚型心肌病的基因型与疾病终生负担：来自肌节性人类心肌病注册研究（SHaRe）的见解。
Circulation. 2018 Oct 2;138(14):1387-1398. doi: 10.1161/CIRCULATIONAHA.117.033200. Epub 2018 Aug 23.
7
SHaRe: advancing the goal of effective treatment for cardiomyopathy.SHaRe：推进心肌病有效治疗目标。
Eur Heart J. 2015 May 14;36(19):1142-3.
8
A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD).肥厚型心肌病患者心脏性猝死的新型临床风险预测模型（HCM risk-SCD）。
Eur Heart J. 2014 Aug 7;35(30):2010-20. doi: 10.1093/eurheartj/eht439. Epub 2013 Oct 14.
9
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.荷兰肥厚型心肌病患者中的创始突变。
Neth Heart J. 2010 May;18(5):248-54. doi: 10.1007/BF03091771.
Zotero 插件