Abstract:
:Causative mutations in the factor VIII gene of seven unrelated patients with severe haemophilia A were identified using the mutation screening procedure conformation sensitive gel electrophoresis (1) and characterised by direct sequencing. Female family members of all patients had requested either carrier status determination or prenatal diagnosis. However, lack of the factor VIII gene inversion, a prior family history or informative polymorphisms prevented diagnosis in these families. Identification of a mutation in each family enabled female carrier status to be determined in all cases. Six mutations were previously unreported. One Afro-Caribbean patient had two sequence changes; A670 2G and A6769G. The latter, resulting in Met2238Val and previously reported as a FVIII mutation, was shown to be polymorphic with a 42% heterozygosity rate in an Afro-Caribbean population. Conformation sensitive gel electrophoresis was found to be technically simple and efficient at locating previously unknown FVIII gene mutations.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Williams IJ,Abuzenadah A,Winship PR,Preston FE,Dolan G,Wright J,Peake IR,Goodeve ACsubject
Has Abstractpub_date
1998-04-01 00:00:00pages
723-6issue
4eissn
0340-6245issn
2567-689Xpii
98040723journal_volume
79pub_type
杂志文章abstract::A series of aromatic amidino compounds were investigated for their inhibitory effect on platelet agglutination and platelet aggregation. Agglutination of fresh or fixed platelets was produced by bovine plasma or by human plasma in combination with ristocetin, while aggregation of fresh platelets was induced by ADP, th...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1978-04-30 00:00:00
abstract::We previously reported that antithrombin (AT) reduced ischemia/reperfusion (I/R)-induced liver injury in rats by increasing endothelial production of prostacyclin (PGI2). However, the mechanism(s) underlying this phenomenon remains to be fully elucidated. We also demonstrated that activation of capsaicin-sensitive sen...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH04-02-0106
更新日期:2005-01-01 00:00:00
abstract::The administration of recombinant activated factor VII (rFVIIa) by continuous infusion has provided a safe and convenient alternative to bolus injections in haemophiliacs with inhibitors, but it has only been reported in a single case with congenital factor VII (FVII) deficiency. The results of 12 consecutive surgical...
journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1160/TH05-05-0342
更新日期:2005-12-01 00:00:00
abstract::Mammalian urokinase-type plasminogen activator (uPA) is produced as a stable single polypeptide chain zymogen and requires a distinct proteolytic cleavage to become an active, two-chain enzyme. In contrast, chicken uPA, both native and recombinant, is found predominantly as a two-chain, active enzyme even in the absen...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2003-02-01 00:00:00
abstract::Coumarin oral anticoagulant drugs have proven to be effective for the prevention of thromboembolic events. World-wide, warfarin is the most prescribed drug. In Europe, acenocoumarol and phenprocoumon are also administered. Yet it has been proven that variant alleles of the VKORC1 and CYP2C9 genotypes influence the pha...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:
更新日期:2008-12-01 00:00:00
abstract::It was the study objective to determine whether glycaemic control affects the extent of platelet inhibition by thienopyridines as assessed by vasodilator-stimulated phosphoprotein flow cytometry (VASP-FCT) in patients with diabetes mellitus (DM) undergoing percutaneous coronary intervention (PCI) during acute coronary...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH11-12-0876
更新日期:2012-08-01 00:00:00
abstract::The prophylactic treatment of haemophilia B and the management of haemophilia A or B with inhibitors demand frequent administrations of coagulation factors due to the suboptimal half-lives of the products commercially available and currently in use, e.g. recombinant factor IX (rFIX) and recombinant factor VIIa (rFVIIa...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1160/TH13-03-0213
更新日期:2013-11-01 00:00:00
abstract::There is an increased number of in vitro evidence that angiotensin II (Ang II) may promote thrombosis. However there are no in vivo experiments exploring the effect of Ang II on thrombus formation. In the present study we have investigated the influence of Ang II on venous thrombosis in renovascular hypertensive rats....
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH04-10-0701
更新日期:2005-06-01 00:00:00
abstract::The pathogenesis of abdominal aortic aneurysm (AAA) involves a central component of chronic inflammation which is predominantly mediated by myeloid cells. We hypothesized that the local inflammatory activity may be reflected in systemic alterations of neutrophil and monocyte populations as well as in soluble factors o...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1055/s-0039-1679939
更新日期:2019-05-01 00:00:00
abstract::Although sepsis-induced release of nitric oxide (NO) is known to have an antithrombotic effect, it is unknown if NO exerts this same effect under physiological conditions. We have there-fore attempted to determine whether or not NO protects against thrombus formation in normal Wistar rats injected with various amounts...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH03-05-0292
更新日期:2004-01-01 00:00:00
abstract::Monoclonal antibodies to human fibrin have been prepared from stable hybridomas, obtained by fusion of a mouse myeloma cell line (NS-1) and spleen cells of Balb/c mice immunized with a suspension of human fibrin. One cell line, DG1, producing a monoclonal antibody of the IgG1, kappa subclass, reacted specifically with...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1988-06-16 00:00:00
abstract::The major plasmin inhibitors namely alpha2-plasmin inhibitor and alpha2-macroglobulin were compared for their effects on lysis of fibrin clot. Plasmin fibrinolytic activity was immediately inhibited by alpha2-plasmin inhibitor, whereas alpha2-macroglobulin inhibited plasmin progressively. Urokinase(plasminogen activat...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1978-02-28 00:00:00
abstract::Thirty-one individuals from 18 unrelated families with antithrombin deficiency have been identified as having a single point mutation within codon 384 (13268 GCA-->TCA) resulting in an alanine to serine substitution. Six families (11 individuals) were identified by the screening of individuals with thromboembolic dise...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1998-02-01 00:00:00
abstract::Patients with haemophilia A have seriously impaired thrombin generation due to an inherited deficiency of factor (F)VIII, making them form unstable fibrin clots that are unable to maintain haemostasis. Data on fibrin structure in haemophilia patients remain limited. Fibrin permeability, assessed by a flow measurement ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH13-06-0479
更新日期:2014-04-01 00:00:00
abstract::In a placebo-controlled trial healthy volunteers and patients with hyperlipoproteinemias types II and IV received orally vitamin E at doses of 300 mg and 600 mg daily for 2 weeks. Serum tocopherol levels increased two-fold, but serum concentrations of total lipids, cholesterol, triglycerides, ceruloplasmin and transfe...
journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章
doi:
更新日期:1985-08-30 00:00:00
abstract::Light to moderate drinking is associated with lower risk of coronary heart (CHD) than non-drinkers. We have examined the relationships between total alcohol intake and type of alcoholic beverage and several potential biological mechanisms. We carried out the study in 3158 men aged 60-79 years drawn from general practi...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH03-04-0221
更新日期:2003-12-01 00:00:00
abstract::Endothelial cell protein C receptor (EPCR) enhances the generation of activated protein C (APC) by the thrombin-thrombomodulin complex. A soluble form of EPCR (sEPCR), which is generated by metalloprotease activity, is present in plasma. The distribution of sEPCR levels in healthy populations is bimodal. Previously, w...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH03-10-0657
更新日期:2004-05-01 00:00:00
abstract::Samples of blood for estimation of beta-thromboglobulin (B.T.G.) in normal subjects have been obtained both from blood donors at the end of their donation and from other volunteers by standard venepuncture. The former was a satisfactory method in males only. By standard venepuncture females have on average lower value...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1979-12-21 00:00:00
abstract::Binding of von Willebrand factor (vWF) to a variety of extracellular matrix (ECM) components and to platelet glycoprotein (GP) Ib-IX-V complex is important in mediating platelet adhesion and aggregation in the early stage of hemostasis. We previously purified a potent antithrombotic protein, named crotalin, functional...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2001-12-01 00:00:00
abstract::Peripheral vascular disease (PVD) is an indicator of diffuse atherosclerosis and is associated with a greatly increased incidence of coronary heart and cerebrovascular disease. Although several studies have assessed whether in vivo platelet activation takes place in patients with PVD, no data are available comparing d...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1997-12-01 00:00:00
abstract::Abnormal antithrombin III (AT III) was found in the plasma of a 31-year-old female who suffered from recurrent thrombotic episodes. Heparin cofactor activity was 28% of normal and undetectable when measured by inhibition of thrombin and factor Xa (F.Xa), while both progressive antithrombin and antifactor Xa activities...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1989-02-28 00:00:00
abstract::Human endothelial cells isolated from umbilical cords were solubilized in Triton X-100 and examined by crossed immunoelectrophoresis using rabbit antiserum against endothelial cells. Endogenous labelling of the endothelial cell proteins with 14C-mannose followed by crossed immunoelectrophoresis and autoradiography rev...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1990-04-12 00:00:00
abstract::The salivary complex of the leech Haementeria depressa produces potent anticoagulant components. Among them, a protein named lefaxin inhibits factor Xa (FXa). Lefaxin was purified to homogeneity from dissected salivary complexes by gel filtration in Sephadex G-150 followed by two ion exchange chromatography steps in M...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1999-11-01 00:00:00
abstract::1. Some of the guidelines on the nomenclature for the genotype of bacterial strains can be applied for recommendations on the nomenclature for the description of recombinant mutant fibrinolytic constructs. 2. In view of the usually different size of genomic DNA and corresponding cDNA, it is recommended to employ a dis...
journal_title:Thrombosis and haemostasis
pub_type: 指南,杂志文章
doi:
更新日期:1990-12-28 00:00:00
abstract::Isolated rat hepatocytes possess per cell 4,500 high-affinity binding sites for thrombin with a Kd of 30-40 pM, and 2.8 X 10(5) low-affinity sites with a Kd of 30 nM. These binding sites are highly specific for thrombin. Half-maximal binding of 125I-labelled thrombin is achieved after 3 min at 37 degrees C and 7 min a...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1988-12-22 00:00:00
abstract::Data on anti-platelet therapy (APT) for prevention of atherothrombotic events in thrombocytopaenic cancer patients is lacking. We aimed to identify patient and physician characteristics associated with APT management in thrombocytopaenic patients with haematological malignancy. A clinical vignette-based experiment was...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1055/s-0038-1676520
更新日期:2019-01-01 00:00:00
abstract::Seven healthy male volunteers were subjected to exercise of short (STR; 1.7 km), middle (MTR; 4.8 km) and long (LTR; 10.5 km) term runs at a speed close to maximal capacity. Blood samples were drawn before, immediately after exercise and at intervals over the next 10 h. FVIIIR:Ag (von Willebrand factor) rose 2.2-3.2 f...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1990-11-30 00:00:00
abstract::Enhanced adhesion of sickle erythrocytes to the vascular endothelium and subendothelial matrix is fundamental to the development of vascular occlusion in sickle cell disease. Erythrocyte membrane sulfatide is implicated in the pathogenesis of vasoocclusive crises in sickle cell disease (SCD) patients. Because previous...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH10-11-0716
更新日期:2011-06-01 00:00:00
abstract::Sixteen Danish unrelated thrombophilic families with plasma protein S deficiency of type 1 (or III) are currently under investigation in our laboratory for defects in the protein S alpha gene. The present paper describes a part of this work, which deals with the identification and phenotypical presentation of two uniq...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1996-08-01 00:00:00
abstract::The amino acid sequence of the subunit of human platelet factor 4 has been determined. Human platelet factor 4 consists of identical subunits containing 70 amino acids, each with a molecular weight of 7,756. The molecule contains no methionine, phenylalanine or tryptophan. The proposed amino acid sequence of PF4 is: G...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1980-02-29 00:00:00