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Mutations in the TGF-beta type 1 receptor, ALK1, in combined primary pulmonary hypertension and hereditary haemorrhagic telangiectasia, implies pathway specificity.

作者信息

Trembath R C.

机构信息

University of Leicester, Leicester, United Kingdom

出版信息

J Heart Lung Transplant. 2001 Feb;20(2):175. doi: 10.1016/s1053-2498(00)00352-1.

DOI:10.1016/s1053-2498(00)00352-1
PMID:11250282
Abstract
摘要

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1
Mutations in the TGF-beta type 1 receptor, ALK1, in combined primary pulmonary hypertension and hereditary haemorrhagic telangiectasia, implies pathway specificity.转化生长因子β1型受体(ALK1)的突变在合并原发性肺动脉高压和遗传性出血性毛细血管扩张症中,提示了通路特异性。
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2
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Clinical features of pulmonary arterial hypertension in young people with an ALK1 mutation and hereditary haemorrhagic telangiectasia.伴有ALK1突变和遗传性出血性毛细血管扩张症的年轻人肺动脉高压的临床特征
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Bazedoxifene, a new orphan drug for the treatment of bleeding in hereditary haemorrhagic telangiectasia.巴多昔芬,一种用于治疗遗传性出血性毛细血管扩张症出血的新型孤儿药。
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Genetic aspects of pulmonary arterial hypertension.
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Endoglin and alk1 as therapeutic targets for hereditary hemorrhagic telangiectasia.内皮糖蛋白和 alk1 作为遗传性出血性毛细血管扩张症的治疗靶点。
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ALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-beta and constitutively active receptor induced gene expression.ALK1信号通路分析可鉴定血管生成相关基因,并揭示转化生长因子-β(TGF-β)与组成型活性受体诱导的基因表达之间的差异。
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Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension.血清内皮抑素是肺动脉高压患者生存的基因决定预测指标。
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