• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Primary pulmonary hypertension: the pressure rises for a gene.原发性肺动脉高压：一种基因导致血压升高。
J Clin Pathol. 2000 Dec;53(12):899-903. doi: 10.1136/jcp.53.12.899.
2
Genetics and immunogenetic aspects of primary pulmonary hypertension.
Chest. 1998 Sep;114(3 Suppl):231S-236S. doi: 10.1378/chest.114.3_supplement.231s.
3
Genetics and pulmonary hypertension.
Chest. 2002 Dec;122(6 Suppl):284S-286S. doi: 10.1378/chest.122.6_suppl.284s.
4
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.编码转化生长因子β受体的BMPR2基因的杂合种系突变会导致家族性原发性肺动脉高压。
Nat Genet. 2000 Sep;26(1):81-4. doi: 10.1038/79226.
5
Genetic studies of pulmonary arterial hypertension.
Lupus. 2003;12(3):209-12. doi: 10.1191/0961203303lu359xx.
6
A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.基于对家族性原发性肺动脉高压基因PPH1关键区间的细化构建的物理图谱和转录图谱。国际PPH联盟。
Genomics. 2000 Sep 1;68(2):220-8. doi: 10.1006/geno.2000.6291.
7
[Genetics and physiopathology of primary or secondary pulmonary artery hypertension].[原发性或继发性肺动脉高压的遗传学与病理生理学]
Bull Acad Natl Med. 2003;187(8):1529-42; discussion 1543-5.
8
Genetics of pulmonary arterial hypertension.肺动脉高压的遗传学。
Clin Chest Med. 2013 Dec;34(4):651-63. doi: 10.1016/j.ccm.2013.08.003.
9
Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33.家族性原发性肺动脉高压基因PPH1的精细定位至2号染色体q33区域的一个3厘摩区间。
Am J Respir Crit Care Med. 2000 Mar;161(3 Pt 1):1055-9. doi: 10.1164/ajrccm.161.3.9906051.
10
Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension.单克隆内皮细胞增殖存在于原发性肺动脉高压中，而不存在于继发性肺动脉高压中。
J Clin Invest. 1998 Mar 1;101(5):927-34. doi: 10.1172/JCI1910.

引用本文的文献

1
Pulmonary arterial hypertension and chronic thromboembolic pulmonary hypertension: pathophysiology.肺动脉高压和慢性血栓栓塞性肺动脉高压：病理生理学。
Eur Respir Rev. 2010 Mar;19(115):59-63. doi: 10.1183/09059180.00007309.
2
Pulmonary arterial hypertension: new ideas and perspectives.肺动脉高压：新观点与新视角
Heart. 2001 Apr;85(4):475-80. doi: 10.1136/heart.85.4.475.
3
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.骨形态发生蛋白受体2单倍体不足作为原发性肺动脉高压的遗传分子机制。
Am J Hum Genet. 2001 Jan;68(1):92-102. doi: 10.1086/316947. Epub 2000 Dec 12.

本文引用的文献

1
Primary pulmonary hypertension. I. Clinical and hemodynamic study.原发性肺动脉高压。I. 临床与血流动力学研究。
Am J Med. 1951 Dec;11(6):686-705. doi: 10.1016/0002-9343(51)90020-4.
2
Primary pulmonary hypertension in three sibs.三例同胞原发性肺动脉高压
Br Heart J. 1959 Jan;21(1):81-8. doi: 10.1136/hrt.21.1.81.
3
Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance.近期关于原发性肺动脉高压的研究，包括对肺血管阻力的药效学观察。
Bull N Y Acad Med. 1954 Mar;30(3):195-207.
4
A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.基于对家族性原发性肺动脉高压基因PPH1关键区间的细化构建的物理图谱和转录图谱。国际PPH联盟。
Genomics. 2000 Sep 1;68(2):220-8. doi: 10.1006/geno.2000.6291.
5
Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33.家族性原发性肺动脉高压基因PPH1的精细定位至2号染色体q33区域的一个3厘摩区间。
Am J Respir Crit Care Med. 2000 Mar;161(3 Pt 1):1055-9. doi: 10.1164/ajrccm.161.3.9906051.
6
Genetic basis of cardiomyopathy.
Curr Opin Cardiol. 1999 May;14(3):225-9. doi: 10.1097/00001573-199905000-00006.
7
Dysfunctional voltage-gated K+ channels in pulmonary artery smooth muscle cells of patients with primary pulmonary hypertension.原发性肺动脉高压患者肺动脉平滑肌细胞中功能失调的电压门控钾通道
Circulation. 1998 Oct 6;98(14):1400-6. doi: 10.1161/01.cir.98.14.1400.
8
Action of fenfluramine on voltage-gated K+ channels in human pulmonary-artery smooth-muscle cells.芬氟拉明对人肺动脉平滑肌细胞电压门控钾通道的作用。
Lancet. 1998 Jul 25;352(9124):290. doi: 10.1016/s0140-6736(05)60264-4.
9
Attenuated K+ channel gene transcription in primary pulmonary hypertension.原发性肺动脉高压中钾通道基因转录减弱。
Lancet. 1998 Mar 7;351(9104):726-7. doi: 10.1016/S0140-6736(05)78495-6.
10
Monoclonal endothelial cell proliferation is present in primary but not secondary pulmonary hypertension.单克隆内皮细胞增殖存在于原发性肺动脉高压中，而不存在于继发性肺动脉高压中。
J Clin Invest. 1998 Mar 1;101(5):927-34. doi: 10.1172/JCI1910.

原发性肺动脉高压：一种基因导致血压升高。

Primary pulmonary hypertension: the pressure rises for a gene.

作者信息

Thomson J R, Trembath R C

机构信息

Division of Medical Genetics, Adrian Building, University of Leicester, Leicester LE1 7RH, UK.

出版信息

J Clin Pathol. 2000 Dec;53(12):899-903. doi: 10.1136/jcp.53.12.899.

DOI:10.1136/jcp.53.12.899
PMID:11265173
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1731125/
Abstract

Primary pulmonary hypertension (PPH) represents the end stage of a disruption of pulmonary vascular integrity, of unknown cause. Although PPH is associated with several systemic disorders, there have hitherto been few clues as to the aetiological factors responsible for the pathogenesis of this condition. As an example of the application of modern molecular genetics and positional cloning, this leader describes the range of studies currently under way, which aim to find the gene that underlies PPH, and summarises the implications of the identification of such a gene.

摘要

原发性肺动脉高压（PPH）是肺血管完整性破坏的终末期表现，病因不明。虽然PPH与多种全身性疾病相关，但迄今为止，关于导致这种疾病发病机制的病因因素几乎没有线索。作为现代分子遗传学和定位克隆应用的一个例子，本述评描述了目前正在进行的一系列研究，这些研究旨在找到PPH的致病基因，并总结了鉴定出这样一个基因的意义。