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An adult case of NOTCH3 mutation in pulmonary artery hypertension.

作者信息

Padhye Akhilesh A, Sahay Sandeep

机构信息

Department of Medicine Houston Methodist Hospital Houston Texas USA.

Houston Methodist Lung Center, Division of Pulmonary, Critical Care and Sleep Medicine Houston Methodist Hospital Houston Texas USA.

出版信息

Pulm Circ. 2022 Mar 4;12(1):e12050. doi: 10.1002/pul2.12050. eCollection 2022 Jan.

DOI:10.1002/pul2.12050
PMID:35506080
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9052997/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de45/9052997/97ac67aa1c89/PUL2-12-e12050-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de45/9052997/97ac67aa1c89/PUL2-12-e12050-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de45/9052997/97ac67aa1c89/PUL2-12-e12050-g001.jpg

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本文引用的文献

1
Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension.儿科肺动脉高压的遗传学和基因组学。
Genes (Basel). 2020 Oct 16;11(10):1213. doi: 10.3390/genes11101213.
2
Notch3 signalling and vascular remodelling in pulmonary arterial hypertension.Notch3 信号通路与肺动脉高压中的血管重构。
Clin Sci (Lond). 2019 Dec 20;133(24):2481-2498. doi: 10.1042/CS20190835.
3
Genetics and genomics of pulmonary arterial hypertension.肺动脉高压的遗传学和基因组学。
Eur Respir J. 2019 Jan 24;53(1). doi: 10.1183/13993003.01899-2018. Print 2019 Jan.
4
Pathology and pathobiology of pulmonary hypertension: state of the art and research perspectives.肺动脉高压的病理学和病理生物学:现状和研究展望。
Eur Respir J. 2019 Jan 24;53(1). doi: 10.1183/13993003.01887-2018. Print 2019 Jan.
5
Methamphetamine and the risk of pulmonary arterial hypertension.甲基苯丙胺与肺动脉高压的风险。
Curr Opin Pulm Med. 2018 Sep;24(5):416-424. doi: 10.1097/MCP.0000000000000513.
6
Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.对肺动脉高压患儿进行外显子组测序,结果显示与成人存在差异。
Circ Genom Precis Med. 2018 Apr;11(4):e001887. doi: 10.1161/CIRCGEN.117.001887.
7
Archetypal mutations frequent in public exome: implications for CADASIL.公共外显子组中常见的原型突变:对伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病的意义
Ann Clin Transl Neurol. 2016 Sep 28;3(11):844-853. doi: 10.1002/acn3.344. eCollection 2016 Nov.
8
Mutations of NOTCH3 in childhood pulmonary arterial hypertension.NOTCH3 基因突变与儿童肺动脉高压。
Mol Genet Genomic Med. 2014 May;2(3):229-39. doi: 10.1002/mgg3.58. Epub 2014 Apr 1.
9
Tobacco smoke: a risk factor for pulmonary arterial hypertension? A case-control study.烟草烟雾:肺动脉高压的一个危险因素?一项病例对照研究。
Chest. 2010 Nov;138(5):1086-92. doi: 10.1378/chest.09-2962. Epub 2010 May 14.
10
Notch3 signaling promotes the development of pulmonary arterial hypertension.Notch3信号通路促进肺动脉高压的发展。
Nat Med. 2009 Nov;15(11):1289-97. doi: 10.1038/nm.2021. Epub 2009 Oct 25.