Abstract：
INTRODUCTION:Congenital factor V (FV) deficiency is a rare inherited disorder. Three compound heterozygous missense mutations, Asp68His, His147Arg, and Arg2074Cys, were observed in a Taiwanese patient with moderately severe FV deficiency. METHOD:The novel His147Arg mutation in the A1 domain was investigated by protein modeling, followed by in vitro expression studies in COS-1 cells, to elucidate the molecular pathology associated with FV deficiency. RESULTS:The His147Arg mutation was associated with normal antigen levels, both in cell lysates and conditioned media, whereas FV activity was significantly reduced to 63.5 ± 17.0%. These observations correspond to a type II FV deficiency mutation. Protein modeling by short-duration molecular dynamics (MD) simulation showed that the His147Arg mutation was associated with a conformational change, which could disrupt the stability of FVa by interfering with His1817 coordination of the copper ion. In functional activation assays, the His147Arg mutation did not affect FV protein activation by thrombin; however, reduced cofactor activity of the FVa protein, due to an increased rate of dissociation of heavy and light chains, was observed. CONCLUSION:Our results show that the His147Arg mutation in the A1 domain of FV does not impair synthesis or procoagulant activity. Instead, the His147Arg mutation appears to disrupt the stability of FVa, providing a potential explanation for the functional deficiency.
journal_name
Thromb Resjournal_title
Thrombosis researchauthors
Liu HC,Lin TM,Eng HL,Lin YT,Shen MCdoi
10.1016/j.thromres.2014.04.005subject
Has Abstractpub_date
2014-07-01 00:00:00pages
153-9issue
1eissn
0049-3848issn
1879-2472pii
S0049-3848(14)00208-4journal_volume
134pub_type
杂志文章abstract：INTRODUCTION:There is some controversy regarding the effect of CYP2C19 polymorphism on clinical outcome in patients with dual antiplatelet therapy. Chronic kidney disease (CKD) is associated with increased risk of cardiovascular event, but the association between the possession of CYP2C19 loss-of-function (LOF) alleles...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2014.07.039
更新日期：2014-11-01 00:00:00
abstract：:Sandwich ELISA systems were developed to measure human von Willebrand factor (vWF). In one system the microtitre plates were coated with goat F(ab')2 to vWF. The F(ab')2 different molecular forms in the soluble phase. VWF antigen bound by the F(ab')2 antibody was subsequently determined by using horse-radish peroxidas...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(86)90047-2
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2009.10.006
更新日期：2010-03-01 00:00:00
abstract：:Thrombolysis is an effective but potential deleterious therapy and should therefore be limited to patients with acute intracerebral vessel occlusion and salvageable tissue. MRI currently develops towards the new diagnostic standard for the selection of stroke patients eligible for acute thrombolytic treatment and acut...
journal_title：Thrombosis research
pub_type： 杂志文章,评审
doi：10.1016/s0049-3848(01)00309-7
更新日期：2001-09-30 00:00:00
abstract：BACKGROUND:It has been reported that statin therapy produces additional effects including impaired activation of blood coagulation. It is not clear whether statins can affect hemostasis in patients with acute coronary syndrome. The aim of this study was to investigate the effect of prior statin treatment on thrombin ge...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2009.06.021
更新日期：2010-05-01 00:00:00
abstract：:The heparin-derived oligosaccharide C3 (C3) is currently underdevelopment for the prevention and treatment of vascular dementia and senile dementia of Alzheimer's type. C3 exhibits a molecular weight of 2200-2500 Da with a narrow distribution. The objective of the present study was to assess the pharmacodynamics and p...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2003.11.008
更新日期：2003-01-01 00:00:00
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journal_title：Thrombosis research
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doi：10.1016/0049-3848(89)90058-3
更新日期：1989-08-15 00:00:00
abstract：CONTEXT:Recently, there has been an increasing number of reports of incidental pulmonary embolism (PE) in patients undergoing chest computer tomography (CT) for reasons other than the research of suspected PE. Natural history of incidental PE remains unclear. OBJECTIVES:To estimate the prevalence of incidental PE, to ...
journal_title：Thrombosis research
pub_type： 杂志文章,meta分析
doi：10.1016/j.thromres.2010.03.016
更新日期：2010-06-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/0049-3848(84)90375-x
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(85)90211-7
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2004.12.009
更新日期：2005-01-01 00:00:00
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2010.10.018
更新日期：2011-01-01 00:00:00
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2014.04.019
更新日期：2014-07-01 00:00:00
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pub_type： 杂志文章,评审
doi：10.1016/S0049-3848(14)50019-9
更新日期：2014-05-01 00:00:00
abstract：BACKGROUND:The recanalization rate in patients with deep venous thrombosis (DVT) of the legs treated with the direct oral anticoagulants (DOAC) is unknown. METHODS:In an Italian cohort, we investigated the rate of residual vein thrombosis (RVT) after three and/or six months in 352 patients with proximal DVT who had be...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2017.03.022
更新日期：2017-05-01 00:00:00
abstract：:We constructed a new factor IX expression vector containing a full length factor IX cDNA. The Moloney Murine Leukemia Virus (MoMLV)-based retroviral vector pLRNL was cloned with the entire coding region of human factor IX down stream of the promoter of Rous sarcoma virus, giving rise to the construct pL9RNL. The GP+E ...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(93)90038-p
更新日期：1993-02-15 00:00:00
abstract：:We evaluate the anti-platelet and anti-thrombotic effects of cilostazol using Multiplate® and PFA-100® in vitro and ex vivo with freshly isolated rat whole blood and in vivo venous and arterial thrombosis models in the same species, in an effort to assess the sensitivity of the whole blood aggregometer assays without ...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2011.02.004
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pub_type： 杂志文章
doi：10.1016/j.thromres.2013.07.010
更新日期：2013-08-01 00:00:00
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journal_title：Thrombosis research
pub_type： 杂志文章
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journal_title：Thrombosis research
pub_type： 杂志文章,评审
doi：10.1016/j.thromres.2012.02.035
更新日期：2012-05-01 00:00:00
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(82)90316-4
更新日期：1982-06-15 00:00:00
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2014.10.014
更新日期：2015-04-01 00:00:00
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(87)90405-1
更新日期：1987-11-15 00:00:00
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journal_title：Thrombosis research
pub_type： 临床试验,杂志文章
doi：10.1016/0049-3848(92)90107-l
更新日期：1992-03-15 00:00:00
abstract：:Severe bleeding took place in a patient when abdominal aneurysm was removed by operation. Bleeding continued after infusion of heparin, antithrombin III (ATIII), fresh platelets and fresh blood. Infusion of tranexamic acid resulted in an immediate cessation of bleeding and improvement of his general condition. Sometim...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(90)90167-b
更新日期：1990-04-15 00:00:00
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/s0049-3848(00)00296-6
更新日期：2000-10-01 00:00:00
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journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/s0049-3848(98)00173-x
更新日期：1999-02-15 00:00:00
abstract：:In this paper, we demonstrated that the procoagulant action of Lonomia achelous (Cramer) is due in part to a component that activates prothrombin. The activation by crude venom and Fractions obtained by gel filtration on Sephadex G-75 is not dependent of phospholipid, Ca++ or Factor V. The activation of prothrombin by...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/0049-3848(92)90187-f
更新日期：1992-05-01 00:00:00
abstract：INTRODUCTION:This study determines the impact of tissue factor (TF)-signaling on the extrinsic pathway of apoptosis in cancer cells and propose death associated protein kinase-1 (DAPK1) as a novel key regulator. MATERIALS AND METHODS:In MDA-MB-231 breast and PC3 prostate cancer cells, mRNA levels were analyzed by real...
journal_title：Thrombosis research
pub_type： 杂志文章
doi：10.1016/j.thromres.2010.11.015
更新日期：2011-02-01 00:00:00
