A Novel Variant Gene in Relation with Hereditary Pulmonary Arterial Hypertension Combined with Pulmonary Arteriovenous Malformations.
作者信息
Chuang Mei-Mei, Wu Shu-Hao, Charng Min-Ji, Wu Yih-Jer
机构信息
Pulmonary Hypertension Interventional Medicine, Division of Cardiology, Cardiovascular Center / Department of Internal Medicine, MacKay Memorial Hospital.
Division of Cardiology, Taipei Veterans General Hospital and National Yang Ming Chiao Tung University, Taipei.
出版信息
Acta Cardiol Sin. 2022 Jul;38(4):542-545. doi: 10.6515/ACS.202207_38(4).20220210A.
Abstract
摘要
相似文献
1
A Novel Variant Gene in Relation with Hereditary Pulmonary Arterial Hypertension Combined with Pulmonary Arteriovenous Malformations.一种与遗传性肺动脉高压合并肺动静脉畸形相关的新型变异基因。
Acta Cardiol Sin. 2022 Jul;38(4):542-545. doi: 10.6515/ACS.202207_38(4).20220210A.
2
BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report.肺动静脉畸形和肺动脉高压中的BMPR2基因突变：一例报告
Respir Investig. 2014 May;52(3):195-8. doi: 10.1016/j.resinv.2013.08.003. Epub 2013 Sep 10.
3
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia.一名患有肺动脉高压且疑似遗传性出血性毛细血管扩张症患者的骨形态发生蛋白受体2（BMPR2）突变
Am J Med Genet A. 2008 Oct 1;146A(19):2551-6. doi: 10.1002/ajmg.a.32468.
4
The BMP Receptor 2 in Pulmonary Arterial Hypertension: When and Where the Animal Model Matches the Patient.肺动脉高压中的 BMP 受体 2：动物模型与患者匹配的时间和地点。
Cells. 2020 Jun 8;9(6):1422. doi: 10.3390/cells9061422.
5
New pathogenic variant of BMPR2 in pulmonary arterial hypertension.肺动脉高压中BMPR2的新致病变体。
Cardiol Young. 2019 Apr;29(4):462-466. doi: 10.1017/S1047951119000015. Epub 2019 Apr 8.
6
Different forms of pulmonary hypertension in a family with clinical and genetic evidence for hereditary hemorrhagic teleangectasia type 2.一个具有2型遗传性出血性毛细血管扩张症临床和遗传证据的家族中的不同形式肺动脉高压
Pulm Circ. 2018 Oct-Dec;8(4):2045894018782664. doi: 10.1177/2045894018782664. Epub 2018 May 25.
7
Liver transplantation in a patient with hereditary haemorrhagic telangiectasia and pulmonary hypertension.一名患有遗传性出血性毛细血管扩张症和肺动脉高压患者的肝移植手术
Pulm Circ. 2019 Dec 18;9(4):2045894019896677. doi: 10.1177/2045894019896677. eCollection 2019 Oct-Dec.
8
Sequence variants in BMPR2 and genes involved in the serotonin and nitric oxide pathways in idiopathic pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: relation to clinical parameters and comparison with left heart disease.骨形成蛋白受体 2 中的序列变异和涉及 5-羟色胺和一氧化氮通路的基因在特发性肺动脉高压和慢性血栓栓塞性肺动脉高压中的作用：与临床参数的关系及与左心疾病的比较。
Respiration. 2010;79(4):279-87. doi: 10.1159/000250322. Epub 2009 Oct 17.
9
Regulation of the Methylation and Expression Levels of the BMPR2 Gene by SIN3a as a Novel Therapeutic Mechanism in Pulmonary Arterial Hypertension.SIN3a 通过调控 BMPR2 基因的甲基化和表达水平在肺动脉高压中发挥治疗作用的新机制。
Circulation. 2021 Jul 6;144(1):52-73. doi: 10.1161/CIRCULATIONAHA.120.047978. Epub 2021 Jun 3.
10
Pulmonary arterial hypertension associated with hereditary spherocytosis and splenectomy in a patient with a mutation in the BMPR2 gene.一名BMPR2基因突变患者中与遗传性球形红细胞增多症和脾切除术相关的肺动脉高压。
Clin Case Rep. 2016 Jun 30;4(8):752-5. doi: 10.1002/ccr3.610. eCollection 2016 Aug.
引用本文的文献
1
Human iPSC and CRISPR targeted gene knock-in strategy for studying the somatic TIE2 mutation in endothelial cells.人类诱导多能干细胞和 CRISPR 靶向基因敲入策略用于研究内皮细胞中的体细胞 TIE2 突变。
Angiogenesis. 2024 Aug;27(3):523-542. doi: 10.1007/s10456-024-09925-9. Epub 2024 May 21.
2
Pulmonary Hypertension, an Evolutional Disease with Multidisciplinary Team Management.肺动脉高压：一种需多学科团队管理的进展性疾病
Acta Cardiol Sin. 2023 Mar;39(2):209-212. doi: 10.6515/ACS.202303_39(2).20230208A.
本文引用的文献
1
Heritable pulmonary arterial hypertension complicated by multiple pulmonary arteriovenous malformations.遗传性肺动脉高压合并多发性肺动静脉畸形。
Respir Med Case Rep. 2021 Jan 19;32:101352. doi: 10.1016/j.rmcr.2021.101352. eCollection 2021.
2
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.
3
British Thoracic Society Clinical Statement on Pulmonary Arteriovenous Malformations.英国胸科学会肺动静脉畸形临床声明。
Thorax. 2017 Dec;72(12):1154-1163. doi: 10.1136/thoraxjnl-2017-210764.
4
Pulmonary arteriovenous malformations.肺动静脉畸形
Am J Respir Crit Care Med. 2014 Dec 1;190(11):1217-28. doi: 10.1164/rccm.201407-1254CI.
5
BMPR2 gene mutation in pulmonary arteriovenous malformation and pulmonary hypertension: a case report.肺动静脉畸形和肺动脉高压中的BMPR2基因突变：一例报告
Respir Investig. 2014 May;52(3):195-8. doi: 10.1016/j.resinv.2013.08.003. Epub 2013 Sep 10.
6
Idiopathic pulmonary arteriovenous malformations: clinical and imaging characteristics.特发性肺动静脉畸形：临床与影像学特征。
Eur Respir J. 2011 Aug;38(2):368-75. doi: 10.1183/09031936.00075110. Epub 2010 Dec 22.
7
TGF-beta and BMPR-II pharmacology--implications for pulmonary vascular diseases.转化生长因子-β与骨形态发生蛋白受体-II药理学——对肺血管疾病的影响
Curr Opin Pharmacol. 2009 Jun;9(3):274-80. doi: 10.1016/j.coph.2009.02.007. Epub 2009 Mar 25.
8
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia.一名患有肺动脉高压且疑似遗传性出血性毛细血管扩张症患者的骨形态发生蛋白受体2（BMPR2）突变
Am J Med Genet A. 2008 Oct 1;146A(19):2551-6. doi: 10.1002/ajmg.a.32468.
9
Embolisation of pulmonary arteriovenous malformations: no consistent effect on pulmonary artery pressure.肺动静脉畸形的栓塞治疗：对肺动脉压无一致影响。
Eur Respir J. 2008 Jul;32(1):162-9. doi: 10.1183/09031936.00126207. Epub 2008 Apr 2.
10
Pulmonary arteriovenous malformations. A state of the art review.肺动静脉畸形。一篇前沿综述。
Am J Respir Crit Care Med. 1998 Aug;158(2):643-61. doi: 10.1164/ajrccm.158.2.9711041.
Zotero 插件