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定向搜索血栓调节蛋白基因突变。

Directed search for thrombomodulin gene mutations.

作者信息

Ireland H, Kyriakoulis K, Kunz G, Lane D A

机构信息

Department of Haematology, Charing Cross and Westminster Medical School, London.

出版信息

Haemostasis. 1996 Oct;26 Suppl 4:227-32. doi: 10.1159/000217303.

DOI:10.1159/000217303
PMID:8979128
Abstract

Thrombomodulin is a principle thrombin receptor located on the vascular endothelium. Thrombomodulin alters the specificity of thrombin, redirecting its procoagulant function to an anticoagulant function by making it a more efficient activator of protein C. While mutation of the genes of other components of this anticoagulant mechanism, protein C, protein S and factor V, is known to predispose towards venous thromboembolism, there are only a few reports of the investigation of thrombomodulin gene mutation. We present the design and evaluation of a strategy to investigate thrombomodulin gene mutation in arterial and venous thrombosis.

摘要

血栓调节蛋白是位于血管内皮的主要凝血酶受体。血栓调节蛋白改变凝血酶的特异性,通过使其成为蛋白C更有效的激活剂,将其促凝血功能转变为抗凝血功能。虽然已知这种抗凝血机制的其他成分,即蛋白C、蛋白S和因子V的基因突变易导致静脉血栓栓塞,但关于血栓调节蛋白基因突变的研究报告却很少。我们展示了一种用于研究动脉和静脉血栓形成中血栓调节蛋白基因突变的策略的设计与评估。

相似文献

1
Directed search for thrombomodulin gene mutations.定向搜索血栓调节蛋白基因突变。
Haemostasis. 1996 Oct;26 Suppl 4:227-32. doi: 10.1159/000217303.
2
A mutation in the thrombomodulin gene, 127G to A coding for Ala25Thr, and the risk of myocardial infarction in men.
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The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.在一名患有血栓栓塞性疾病的45岁男性中首次发现的血栓调节蛋白基因中的突变。
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Mutations in promoter region of thrombomodulin and venous thromboembolic disease.血栓调节蛋白启动子区域突变与静脉血栓栓塞性疾病
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Thrombomodulin gene mutations associated with myocardial infarction.与心肌梗死相关的血栓调节蛋白基因突变。
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The thrombomodulin gene mutation G(127)-->A (Ala25Thr) and cerebrovascular disease.血栓调节蛋白基因突变G(127)-->A(丙氨酸25苏氨酸)与脑血管疾病
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Thrombomodulin as a regulator of the anticoagulant pathway: implication in the development of thrombosis.血栓调节蛋白作为抗凝途径的调节剂:在血栓形成发展中的意义。
Blood Coagul Fibrinolysis. 2012 Jan;23(1):1-10. doi: 10.1097/MBC.0b013e32834cb271.

引用本文的文献

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Association of Thrombomodulin Gene Polymorphism (C1418T) With Coronary Artery Disease in Pakistani Population.巴基斯坦人群中血栓调节蛋白基因多态性(C1418T)与冠状动脉疾病的关联
Pak J Med Sci. 2018 May-Jun;34(3):730-735. doi: 10.12669/pjms.343.14864.
2
Thrombomodulin Ala455Val Polymorphism and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study.血栓调节蛋白Ala455Val多态性与混血人群脑梗死风险:年轻女性卒中预防研究
BMC Neurol. 2004 Dec 1;4(1):21. doi: 10.1186/1471-2377-4-21.