Abstract:
:We have identified two novel minor deletions (case 1; -TA or -AT at nucleotide 9831-3 in exon 5 and case 2; -A at nucleotide 7640-1 in exon 4), one novel nonsense mutation (case 3; TAT to TAA at nucleotide 7491 in exon 4), and one recurrent nonsense mutation (case 4; CGA to TGA at nucleotide 5381 in exon 3A) in Japanese kindreds with congenital type I antithrombin deficiency. The deletion detected in case 1 represented a symmetric element (CTCTGTCTC) and possessed a direct repeat (CTCTATGTCTC). The deletion in case 2 was recognized in a consensus sequence (TGAAT) and possessed a direct repeat (GATGAA). The nonsense mutation in case 3 formed a palindrome (CCGTTAACGG) and that in case 4 was caused by a CpG dinucleotide mutation. These results confirm that the mutations of congenital type I antithrombin deficiency are not random events but are influenced strongly by DNA sequences.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Nakahara Y,Tsuji H,Nakagawa K,Masuda H,Kitamura H,Nishimura H,Kasahara T,Sugano T,Sawada S,Nakagawa Msubject
Has Abstractpub_date
1997-04-01 00:00:00pages
616-9issue
4eissn
0340-6245issn
2567-689Xjournal_volume
77pub_type
杂志文章abstract::As an adjunct to a European multicentre prospective study, five quality assessment (QA) exercises, spanning a period of 2.5 years, were undertaken. In these, fifteen laboratories from eight countries each performed ten haemostatic factor assays. The design of the QA exercises allowed the between-duplicate, between-day...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:
更新日期:1991-02-12 00:00:00
abstract::Extensive contact between blood and artificial surfaces causes platelet activation and depletion. The aim of the present study was to test the efficacy of Ro 44-9883, a potent and selective peptidomimetic GPIIb-IIIa antagonist, in preventing platelet loss in guinea pigs undergoing extracorporeal circulation (ECC) with...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1993-11-15 00:00:00
abstract::High mobility group box 1 (HMGB1) acts as both a nuclear protein that regulates gene expression, as well as a pro-inflammatory alarmin that is released from necrotic or activated cells. Recently, HMGB1-expression in human atherosclerotic plaques was identified. Therapeutic blockade of HMGB1 reduced the development of ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH14-12-1073
更新日期:2015-11-01 00:00:00
abstract::We investigated changes in both thrombin activatable fibrinolysis inhibitor (TAFI) antigen levels and its functional effect on in vitro fibrinolysis in normal pregnancy. 152 pregnant women and 31 women in the immediate postpartum period were studied, with pregnancy divided into 6 windows at 4 weekly intervals. As TAFI...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH04-06-0387
更新日期:2004-11-01 00:00:00
abstract::Coagulation factor III (tissue factor) is required for significant activation of factor X in the presence of factor VIIa. Factor III is a membrane protein which requires bound phospholipids for activity, and removal of lipids during purification of factor III abolishes its activity. The activity can be recovered if li...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1980-08-29 00:00:00
abstract:OBJECTIVE: Blood monocyte subsets are emerging as biomarkers of cardiovascular inflammation. However, our understanding of human monocyte heterogeneity and their immunophenotypic features under healthy and inflammatory conditions is still evolving. RATIONALE: In this study, we sought to investigate the immunophenome o...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1055/s-0039-1700871
更新日期:2020-01-01 00:00:00
abstract::We report for the first time that saliva of the hard tick and Lyme disease vector, Ixodes scapularis, is a potent inhibitor of angiogenesis. Saliva (< or = 1:500 dilutions) or salivary gland (0.1-0.5 pairs/assay) dose-dependently inhibits microvascular endothelial cell (MVEC) proliferation. Inhibition was also detecte...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH04-09-0566
更新日期:2005-07-01 00:00:00
abstract::Calibration of local standards for ristocetin cofactor activity of von Willebrand's factor (vWF:Rcof) against reference preparations is required to achieve a better standardization of this measurement. We have observed that in calibration assays (multiple line parallel bioassay) for vWF:Rcof, measured aggregometricall...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1987-12-18 00:00:00
abstract::An experimental model incorporating cultured endothelial cells (EC) was used to study the "factor VIII bypassing" activity of prothrombin complex concentrates (PCC), a property exploited in the treatment of hemophiliacs with alloantibodies to factor VIII. Two PCC preparations were ineffective as stimuli of tissue fact...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1991-11-01 00:00:00
abstract::Two candidate ECAA reference preparations have been calibrated in a multicentre exercise at 14 representative national laboratories to provide reference thromboplastin for a large field study in 16 European countries. Two preparations were required because of the established differences in ISI arising from the two mai...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:
更新日期:1996-12-01 00:00:00
abstract::LMWH preparations have been proven to be safe and effective in the out-patient management of acute DVT. Although LMWHs are more expensive than unfractionated heparin, the lack of need for laboratory monitoring of LMWHs and their potential for out-patient treatment more than offsets the drug related cost difference and...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:1997-07-01 00:00:00
abstract::Nitric oxide (NO) is a signaling molecule of major importance modulating not only the function of the vascular wall but also that of blood cells, such as platelets and leukocytes. The synthesis of NO in the circulation has been attributed mainly to the vascular endothelium. Red blood cells (RBC) have been demonstrated...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:2007-11-01 00:00:00
abstract::We have established a new analytical method which allows the characterization of von Willebrand factor (vWF) degradation fragments in minute amounts (10 microliters) of plasma, without the need for immunopurification of vWF. Plasma vWF was hydrolysed by S aureus V-8 protease (V-8 protease) and the cleaved fragments se...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1988-12-22 00:00:00
abstract::After the demonstration that moderate hyperhomocysteinemia is associated with thrombosis, many hematological labs are becoming interested in total homocysteine (tHcy) measurement. This prompted us to organize a collaborative study to investigate the performance of methods used in this setting and to assess the between...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:
更新日期:2001-02-01 00:00:00
abstract::The surface of the platelet expresses procoagulant phospholipids that bind coagulation factors and contribute to the procoagulant activity of the cell. The evidence, however, also suggests that platelets may possess specific receptors for coagulation Factors V(a) and VIII(a). Examination of a limited set of the availa...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:1993-07-01 00:00:00
abstract::The still living members of the original bleeder family on the Aland Islands described by von Willebrand in 1926 have been reinvestigated by using modern laboratory techniques for the measurement of the Factor VIII complex and with regard to platelet aggregation. The low level of F VIII : C activity demonstrated in 19...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1981-02-23 00:00:00
abstract::Intraoperative high-dose aprotinin administration has been shown to reduce the intra-and postoperative blood loss in cardiac surgery. The haemostatic effect has been attributed to platelet preserving properties and to inhibition of contact activation reducing thrombotic and fibrinolytic activity during and after cardi...
journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1995-05-01 00:00:00
abstract::EPCR is a type I transmembrane protein, highly expressed on the endothelium of large vessels, that binds protein C and augments its activation. In this study, a 23bp insertion in the EPCR gene was found in 4/198 survivors of myocardial infarction and 3/194 patients with deep vein thrombosis. The EPCR gene with the ins...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2001-10-01 00:00:00
abstract::Thrombin-activated human platelets release substance(s) of a proteic nature which induce an increase in the intracellular calcium concentration in polymorphonuclear leukocytes (PMN). Aim of this study was to characterize the platelet released product(s) responsible for PMN stimulation. PMN-stimulating activity was iso...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1996-11-01 00:00:00
abstract::The simultaneous additon of suboptimal concentrations of factor VIII and intact or plasmin-lysed fibrinogen into mixtures of the vitamin K dependent factors, phospholipids, adsorbed bovine serum (supplier to factor V) and calcium, increased the amount of thrombin which was generated three to twenty times over the sum ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1976-04-30 00:00:00
abstract:BACKGROUND: Anticoagulant therapy has seldom been achieved in randomized trials targeting nonspecific overall sepsis patients. Although the key components to identify the appropriate target in sepsis may be disseminated intravascular coagulation (DIC) and high disease severity, the interaction and relation of these two...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:10.1055/s-0039-1693740
更新日期:2019-11-01 00:00:00
abstract::Management strategies for patients with atrial fibrillation (AF) in association with valvular heart disease (VHD) have been less informed by randomized trials, which have largely focused on ‘non-valvular AF’ patients. Thromboembolic risk also varies according to valve lesion and may also be associated with CHA2DS2-VAS...
journal_title:Thrombosis and haemostasis
pub_type: 共识发展会议,杂志文章
doi:10.1160/TH-17-10-0709
更新日期:2017-12-01 00:00:00
abstract::Early treatment of disseminated intravascular coagulation (DIC) is recommended but global coagulation tests used in authorized DIC criteria are not sensitive for diagnosis of early-phase DIC. We examined the plasma levels of thrombin-antithrombin complex (TAT), plasmin-plasmin inhibitor complex (PPIC) and D-dimer in p...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:10.1160/TH05-04-0286
更新日期:2006-02-01 00:00:00
abstract::The cellular phospholipid, lysophosphatidic acid (LPA), released by activated platelets and fibroblasts or, at high levels, from ovarian and cervical carcinomas is a powerful serum mitogen that may modulate several signaling pathways in endothelial cells (EC). Hence, LPA could function in a paracrine manner during EC-...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::Atherosclerotic plaque rupture may trigger the formation of mural thrombus. This thrombus formation is apparently affected by very high and complex shear conditions introduced by the luminal narrowing (stenosis) of the atheroma. To study the impact of such blood flow behaviour on thrombus formation we employed a model...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1996-04-01 00:00:00
abstract::Patients with intermediate-risk pulmonary embolism (PE) may, depending on the method and cut-off values used for definition, account for up to 60% of all patients with PE and have an 8% or higher risk of short-term adverse outcome. Although four non-vitamin K-dependent direct oral anticoagulants (NOACs) have been appr...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:10.1160/TH17-06-0434
更新日期:2017-12-01 00:00:00
abstract::The generation of D-dimer was studied in the course of local thrombolytic therapy of peripheral arterial occlusions with low doses of recombinant human tissue-type plasminogen activator (rt-PA) in 7 patients. Intermittent local application of rt-PA resulted in a marked increase in D-dimer exceeding values usually seen...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1990-10-22 00:00:00
abstract::Edoxaban is an oral, direct, once-daily, factor Xa inhibitor developed for stroke prevention in patients with atrial fibrillation and for the treatment and secondary prevention of recurrent thromboembolism in patients with acute symptomatic venous thromboembolism. Among elderly patients who require anticoagulation the...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,随机对照试验
doi:10.1160/TH14-06-0547
更新日期:2015-04-01 00:00:00
abstract::Previous studies have reported that the platelets of healthy term neonates have either diminished or normal reactivity compared to the platelets of adults. To circumvent the methodologic problems of previous studies, we used a whole blood flow cytometric method to study neonatal platelet reactivity to thrombin, a comb...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1994-12-01 00:00:00
abstract::Patients with atrial fibrillation at moderate to high risk of stroke are not always anticoagulated despite a lack of contraindications to vitamin K antagonists (VKAs) like warfarin. These patients are treated with aspirin, aspirin-clopidogrel combination therapy or even receive no thromboprophylaxis. The oral direct t...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,meta分析
doi:10.1160/TH10-10-0642
更新日期:2010-12-01 00:00:00