Abstract:
:We studied a Japanese family with type I antithrombin (AT) deficiency and identified a novel in-frame deletion mutation (-ATG at nucleotide position of 2771-2773) in the AT gene, which predicted loss of a methionine (Met) at amino acid number of 103. In addition, we found a single base replacement of G to A at nucleotide position of 67 (4 base upstream to the initial codon) in the mutant allele. Since the G67A substitution in the AT gene was very rare, this family was the second case, in which the nucleotide change was transmitted. To elucidate the mechanism of AT deficiency, we transiently expressed wild type and the mutant AT (DeltaM103) in HuH-7 human hepatoma cells and performed pulse-chase studies. The experiments revealed that the mutant AT (DeltaM103) hardly secreted into the medium and underwent partial intracellular degradation. In addition, we performed luciferase reporter assay to examine the effect of G67A substitution on the AT gene expression, and found that the substitution did not reduce the luciferase activity. These results suggested that secretion defect and intracellular degradation of the variant molecule with the deletion of Met 103 were responsible for AT deficiency in this family.
journal_name
Thromb Resjournal_title
Thrombosis researchauthors
Katayama K,Hashimoto N,Tanaka Y,Ozawa T,Emi Y,Ikeda T,Katayama M,Nomura S,Kitajima I,Nakano T,Imanaka Tdoi
10.1016/j.thromres.2004.12.004subject
Has Abstractpub_date
2005-01-01 00:00:00pages
215-21issue
3eissn
0049-3848issn
1879-2472pii
S0049-3848(04)00634-6journal_volume
116pub_type
杂志文章abstract::Individuals with more than one defect in the natural anticoagulant system exhibit an increased risk for thrombosis. We report on a family with two cases of combined protein C (PROC) and protein S (PROS) deficiency, five cases of isolated PROC deficiency Type I, and two cases of isolated PROS deficiency Type I. PROC an...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(01)00232-8
更新日期:2001-07-01 00:00:00
abstract::Triflavin, an Arg-Gly-Asp (RGD)-containing disintegrin purified from venom peptide inhibited platelet aggregation by interfering with the interaction of fibrinogen with alpha(IIb)beta(3) integrin. Using an immunostaining technique and electron microscopy, we investigated and compared the distribution of triflavin bind...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(03)00104-x
更新日期:2003-01-01 00:00:00
abstract::Many patients with diabetes mellitus show increased platelet aggregation and prostaglandin synthesis in response to physiological agents such as ADP and collagen when their platelets are tested in platelet-rich plasma or washed platelet suspensions. However, the relationship between increased platelet aggregation in v...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(87)90265-9
更新日期:1987-06-01 00:00:00
abstract::Numerous factors affect the response to vitamin K antagonists (VKA) including age, dietary vitamin K, other drugs, pharmacogenetics, and disease states. In antithrombotic guidelines, fever is mentioned as a factor that may increase response to VKA. The purpose of this article is to review the available evidence regard...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/j.thromres.2014.10.015
更新日期:2015-01-01 00:00:00
abstract:INTRODUCTION:The prevalence and etiology of occult bleeding among patients on warfarin who are screened systematically for new anemia is largely unknown. We aimed to estimate the usefulness of following hemoglobin and mean red cell volume (MCV) with INR in order to screen for developing anemia as an indicator of occult...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2012.05.005
更新日期:2012-09-01 00:00:00
abstract::Pharmacovigilance is an essential element of any drug treatment and considering the history of adverse events due to products used to treat inherited bleeding disorders, it should be an integral component of modern haemophilia treatment. Because inherited bleeding disorders and adverse events are rare, a multicentre, ...
journal_title:Thrombosis research
pub_type: 杂志文章,多中心研究
doi:10.1016/S0049-3848(10)70150-X
更新日期:2011-01-01 00:00:00
abstract::The effect of red wine drinking was tested on fibrinolytic parameters and blood cells in nine healthy students at rest and after acute exercise. The subjects were randomly assigned in a crossover design to one of three treatment regimes: control situation, low-dose wine group, and high-dose wine group. Blood samples w...
journal_title:Thrombosis research
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1016/s0049-3848(99)00120-6
更新日期:1999-12-01 00:00:00
abstract::Epidemiologic data have indicated that the intake of polyphenols is inversely associated with mortality from cardiovascular disease. Mitogen-activated protein kinases (MAPKs) are ubiquitous signaling proteins that have been associated with gene regulation. This study determined whether polyphenols (catechin and querce...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2007.02.001
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:The Cilostazol Stroke Prevention Study found that cilostazol, a phosphodiesterase 3 inhibitor, can reduce the risk of subsequent stroke in Japanese patients with cerebral infarction. Here, we measured the effects of cilostazol in vitro on shear-induced platelet aggregation, an important mechanism of thromb...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2006.05.005
更新日期:2007-01-01 00:00:00
abstract:INTRODUCTION:Although the procoagulant reactivity of monocytes largely depends on expression and cell surface presentation of tissue factor (TF), little is known about the impact of tissue factor pathway inhibitor (TFPI) on regulation of TF function on the monocyte surface. MATERIALS AND METHODS:Peripheral blood monon...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2010.07.014
更新日期:2010-11-01 00:00:00
abstract::The placenta is the highly specialised organ of pregnancy that supports the normal growth and development of the fetus. Growth and function of the placenta are precisely regulated and coordinated to ensure the exchange of nutrients and waste products between the maternal and fetal circulatory systems operates at maxim...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/j.thromres.2004.06.038
更新日期:2004-01-01 00:00:00
abstract::It has previously been observed that aspirin diminishes the increase in blood fibrinolytic activity during arm venous occlusion. We studied the duration of this inhibitory effect on fibrinolytic response during 20 minutes arm venous occlusion and its effect on fibrinolytic response during acute physical activity (stan...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(87)90282-9
更新日期:1987-04-15 00:00:00
abstract:BACKGROUND:There is a substantial local release of tissue-type plasminogen activator (t-PA) in the splanchnic vascular bed, and this release is increased at high sympathetic tone. Coronary t-PA release is also significant, and this release increases during cardiac nerve stimulation and during reperfusion after 10 min o...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2009.10.004
更新日期:2010-03-01 00:00:00
abstract::Cilostazol is a newly developed antiplatelet drug that has been widely applied for clinical use. Its antiplatelet action appears to be mainly related to inhibition of intracellular phosphodiesterase activity. Our study was designed to investigate inhibitory effects of cilostazol on the expression of activation-depende...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(98)00172-8
更新日期:1999-02-01 00:00:00
abstract::We examined the effects of polysaccharides on t-PA mediated plasminogen activation using single-chain tissue plasminogen activator (sct-PA) and two-chain tissue plasminogen activator (tct-PA). Unfractionated heparin, low molecular weight heparin (LMW heparin) and dextran sulfates enhanced the activation rate of plasmi...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(91)90021-n
更新日期:1991-06-01 00:00:00
abstract:BACKGROUND:SARS-CoV-2 infection has noted derangements in coagulation markers along with significant thrombotic complications. Post-mortem examinations show severe endothelial injury and widespread thrombotic microangiopathy in the pulmonary vasculature. Early reports describing the use of prophylactic anticoagulation ...
journal_title:Thrombosis research
pub_type: 评论,信件
doi:10.1016/j.thromres.2020.09.030
更新日期:2020-12-01 00:00:00
abstract::We report here that the rate of fibrin polymerization is accelerated by decompression: the rate is essentially doubled by reducing the pressure by one-half (380 torr, 14.7 PSI or 1/2 ATM) and increased by 3.6 times with respect to the control at 25 torr (0.48 PSI or 1/30th ATM). We also report here that the rate of fi...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(88)90251-4
更新日期:1988-03-15 00:00:00
abstract::Initiation of clotting cascade by tissue factor (TF): Factor VII (FVII) complex is essential for hemostasis however pathologic expression of TF leads to thrombosis. In contrast, the contact pathway factor XII, and to the smaller extent FXI are dispensable for normal hemostasis but still contribute to pathologic thromb...
journal_title:Thrombosis research
pub_type:
doi:10.1016/j.thromres.2014.03.001
更新日期:2014-05-01 00:00:00
abstract::The candidate-gene approach can be used to locate and identify genetic variations that are associated with a particular phenotype. This gene-centric approach assumes that there exists important genetic variation within genes that can influence health. Identifying known genes which are candidates for the phenotype of i...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/S0049-3848(09)70139-2
更新日期:2009-01-01 00:00:00
abstract::Heparin is an effective, relatively safe, inexpensive parenteral antithrombotic agent widely used in the prevention and treatment of thromboembolic disorders, but it has several limitations such as the marked intra- and inter-patient variability in its anticoagulant response, its poor bioavailability at low doses and ...
journal_title:Thrombosis research
pub_type: 杂志文章,评审
doi:10.1016/j.thromres.2011.11.008
更新日期:2012-03-01 00:00:00
abstract::Tissue factor (TF) is an integral membrane glycoprotein that serves as a cofactor for blood coagulation factor VIIa. The induction of TF on the surface of endothelial cells is initiated by various kinds of stimuli including lipopolysaccharide (LPS), interleukin-1 beta (IL-1 beta), and tumor necrosis factor alpha (TNF ...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(94)90002-7
更新日期:1994-04-15 00:00:00
abstract::In adult patients with sickle cell disease two distinct subphenotypes have previously been defined: patients with the viscosity-vaso-occlusion subphenotype (VVO) suffer mainly from vaso-occlusive pain crises and have a relatively high hemoglobin concentration. Patients classified as the hemolysis-endothelial dysfuncti...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2013.10.006
更新日期:2013-01-01 00:00:00
abstract:INTRODUCTION:Pulmonary embolism (PE) has a high morbidity and mortality. Hence it is important to recognize factors associated with higher risk of adverse outcomes in hemodynamically stable patients. Heart-type fatty acid binding protein (H-FABP) is a novel marker evaluated in recent years for prognosis in acute PE. Ou...
journal_title:Thrombosis research
pub_type: 杂志文章,meta分析
doi:10.1016/j.thromres.2014.10.007
更新日期:2015-01-01 00:00:00
abstract::COVID-19 has been associated with an increased risk of thrombotic events; however, the reported incidence of deep vein thrombosis varies depending, at least in part, on the severity of the disease. Aim of this prospective, multicenter, observational study was to investigate the incidence of lower limb deep vein thromb...
journal_title:Thrombosis research
pub_type: 杂志文章,多中心研究
doi:10.1016/j.thromres.2020.10.035
更新日期:2021-01-01 00:00:00
abstract::Microheterogeneity of antithrombin III (ATIII) was examined in pooled normal human plasma and serum by IEF/PA and immunoblotting techniques. A pattern consisting of 8 bands varying in isoelectric point from 4.7 to 5.2 was observed in citrated plasma following IEF in a pH range of 4-6. A similar pattern was observed in...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(85)90331-7
更新日期:1985-10-15 00:00:00
abstract::The extrinsic fibrinolytic system was assessed among 124 consecutive survivors of acute myocardial infarction below 70 years of age. In samples drawn 3 months after discharge from hospital, the PAI-1 levels were higher and the tPA activities were lower than among elderly healthy controls. In contrast, the AMI survivor...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/0049-3848(87)90428-2
更新日期:1987-12-15 00:00:00
abstract:INTRODUCTION:Extracellular histones are reported to increase thrombin generation in the plasma and induce endothelial cell death in vitro. These effects of histones were suggested to involve histone-induced inhibition of TM-dependent activated protein C (APC) generation. Therefore, we hypothesized that TM alfa, a recom...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/j.thromres.2017.10.019
更新日期:2017-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:According to US Food and Drugs Administration (FDA), 2 hour recombinant tissue plasminogen activator (rt-PA) 100mg infusion is recommended for eligible patients with acute pulmonary embolism (PE). However,there exists evidence implying that a lower dosage of rt-PA can be equally effective but p...
journal_title:Thrombosis research
pub_type: 杂志文章,meta分析,评审
doi:10.1016/j.thromres.2013.12.026
更新日期:2014-03-01 00:00:00
abstract::The three main components involved in thrombosis and haemostasis are thrombin, platelets, and plasmin. Almost all inhibitors of thrombosis are focused either on the inhibition of thrombin or on the inhibition of platelets. We designed a construct using the fibrinolytic activity of staphylokinase, fused via a cleavable...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(97)00277-6
更新日期:1997-12-01 00:00:00
abstract::The purpose of this study was to determine whether plasma von Willebrand factor concentrations are correlated with the degree of intestinal ischaemia-reperfusion injury. Forty-six anaesthetised adult Wistar rats were divided into five groups. The sham-operated group (S, n=10) had laparotomy and isolation of the superi...
journal_title:Thrombosis research
pub_type: 杂志文章
doi:10.1016/s0049-3848(99)00013-4
更新日期:1999-06-15 00:00:00