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Toward Population-Based Genetic Screening for Hereditary Amyloidosis.

作者信息

Reza Nosheen, Damrauer Scott M

机构信息

Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Division of Vascular Surgery and Endovascular Therapy, Department of Surgery, and Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

出版信息

JACC CardioOncol. 2021 Oct 19;3(4):562-564. doi: 10.1016/j.jaccao.2021.09.005. eCollection 2021 Oct.

DOI:10.1016/j.jaccao.2021.09.005
PMID:34729528
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8543136/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f1aa/8543136/f27d7c6c4118/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f1aa/8543136/f27d7c6c4118/fx1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f1aa/8543136/f27d7c6c4118/fx1.jpg

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引用本文的文献

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本文引用的文献

1
Genomic Screening for Pathogenic Transthyretin Variants Finds Evidence of Underdiagnosed Amyloid Cardiomyopathy From Health Records.对致病性转甲状腺素蛋白变体进行基因组筛查，从健康记录中发现了未被充分诊断的淀粉样心肌病的证据。
JACC CardioOncol. 2021 Oct 19;3(4):550-561. doi: 10.1016/j.jaccao.2021.07.002. eCollection 2021 Oct.
2
Prevalence and Outcomes of p.Val142Ile Amyloidosis Cardiomyopathy: A Systematic Review.瓦尔 142 异亮氨酸淀粉样变心肌病的患病率和结局：系统评价。
Circ Genom Precis Med. 2021 Oct;14(5):e003356. doi: 10.1161/CIRCGEN.121.003356. Epub 2021 Aug 31.
3
Association of the transthyretin variant V122I with polyneuropathy among individuals of African ancestry.
载脂蛋白变异体 V122I 与非洲裔个体多发性神经病的关联。
Sci Rep. 2021 Jun 2;11(1):11645. doi: 10.1038/s41598-021-91113-6.
4
Atrial Fibrillation and Ischemic Stroke With the Amyloidogenic V122I Transthyretin Variant Among Black Americans.美国黑人中伴有淀粉样变V122I转甲状腺素蛋白变异体的心房颤动和缺血性卒中
J Am Coll Cardiol. 2021 Jul 6;78(1):89-91. doi: 10.1016/j.jacc.2021.04.042. Epub 2021 May 3.
5
Health impact of tafamidis in transthyretin amyloid cardiomyopathy patients: an analysis from the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and the open-label long-term extension studies.塔法米迪在转甲状腺素蛋白淀粉样变心肌病患者中的健康影响：来自转甲状腺素蛋白心肌病临床试验（ATTR-ACT）和开放标签长期扩展研究的分析。
Eur Heart J Qual Care Clin Outcomes. 2022 Aug 17;8(5):529-538. doi: 10.1093/ehjqcco/qcab031.
6
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.利用电子健康记录进行外显子组范围内稀有编码变异体的评估可确定新的基因-表型关联。
Nat Med. 2021 Jan;27(1):66-72. doi: 10.1038/s41591-020-1133-8. Epub 2021 Jan 11.
7
Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.V122I 遗传性转甲状腺素蛋白淀粉样变性基因突变与非洲裔或西班牙裔/拉丁裔个体心力衰竭的关联。
JAMA. 2019 Dec 10;322(22):2191-2202. doi: 10.1001/jama.2019.17935.
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Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis.专家共识建议：疑似转甲状腺素蛋白心脏淀粉样变性的诊断。
Circ Heart Fail. 2019 Sep;12(9):e006075. doi: 10.1161/CIRCHEARTFAILURE.119.006075. Epub 2019 Sep 4.
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J Am Coll Cardiol. 2019 Jun 11;73(22):2872-2891. doi: 10.1016/j.jacc.2019.04.003.