Factor XII gene mutation in the Hageman family.
Factor XII gene mutation in the Hageman family.
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Hageman 家族的 XII 因子基因突变
DOI：
10.1111/j.1538-7836.2011.04508.x
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发表时间：
2011-11
期刊：
影响因子：
--
通讯作者：
Wu Q
中科院分区：
文献类型：
--
作者：
Xu-Cai YO;Shen J;Chen S;Zhou Y;Larusch GA;Stavrou E;Schmaier AH;Wu Q
Hageman特征是指凝血因子XII(FXII)的遗传性缺陷。这一术语是由奥斯卡·拉特诺夫在1955年以指标患者约翰·哈格曼的名字命名的，他在体外有‘不凝结’的血液，但即使在手术后也没有异常出血[1，2]。随后，Earl Davie和Oscar Ratnoff分离了Hageman因子，这是Hageman血液中缺失的蛋白质，后来被称为FXII[3，4]。这项开创性的工作促成了1964年提出的凝血“瀑布/级联”假说[5，6]，该假说确立了凝血是通过一系列血浆蛋白的顺序激活来调节的基本原理。1968年，在基因克隆技术可用之前，John Hageman在髋关节骨折卧床时死于肺血栓栓塞症[7]。结果，他的FXII缺乏症背后的基因缺陷一直没有被确定。在这项研究中，我们从哈格曼家族的后代那里获得了血液样本，以分析他们编码FXII的F12基因。这项研究得到了克利夫兰诊所机构审查委员会的批准。所有参与者都提供了书面同意。
Hageman trait refers to an inherited deficiency of coagulation factor XII (FXII). The term was named by Oscar Ratnoff in 1955 after the index patient John Hageman, who had ‘incoagulable’blood in vitro but no abnormal bleeding even after surgeries [1, 2]. Subsequently, Earl Davie and Oscar Ratnoff isolated Hageman factor, the protein missing in Hageman’s blood, which later was called FXII [3, 4]. This pioneer work contributed to the ‘Waterfall/Cascade’hypothesis of blood coagulation presented in 1964 [5, 6], which established the basic principle that blood coagulation is mediated by the sequential activation of a series of plasma proteases.John Hageman died of pulmonary thromboembolism during bed rest from a broken hip in 1968 before gene cloning techniques were available [7]. As a result, the genetic defect underlying his FXII-deficiency was never determined. In this study, we obtained blood samples from descendants of the Hageman family to analyze their F12 gene that encodes FXII. The study was approved by the Cleveland Clinic Institutional Review Board. All participants provided written consent.
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DOI：
10.1111/j.1538-7836.2010.03893.x
发表时间：
2010-08
期刊：
Journal of thrombosis and haemostasis : JTH
影响因子：
--
作者：
Caen J;Wu Q
通讯作者：
Wu Q
影响因子：
56.9
作者：
DAVIE, EW;RATNOFF, OD
通讯作者：
RATNOFF, OD
影响因子：
2.9
作者：
RATNOFF, OD;DAVIE, EW
通讯作者：
DAVIE, EW
影响因子：
158.5
作者：
RATNOFF, OD;BUSSE, RJ;SHEON, RP
通讯作者：
SHEON, RP
影响因子：
15.9
作者：
RATNOFF, OD;COLOPY, JE
通讯作者：
COLOPY, JE