Abstract：
:Bernard-Soulier syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. This complex is composed of four subunits, GPIbalpha, GPIbbeta, GPIX and GPV. We describe here the genetic basis of the disorder in a patient with BSS. Flow cytometric analysis of the patient's platelets showed greatly reduced GPIbalpha and GPIX surface expression. Immunoblot analysis disclosed absence of GPIbalpha, GPIbbeta and GPIX in the platelets. DNA sequencing analysis revealed a novel missense mutation in the GPIbbeta gene that converts Pro (CCG) to Arg (CGG) at residue 74. Homozygosity of the mutation was confirmed by allele-specific restriction analysis, chromosome 22 microsatellite analysis and quantitative Southern blotting. The mutant GPIbbeta was normally transcribed. Transient transfection studies confirmed that mutant GPIbbeta impairs surface expression of GPIb/IX, showing that the mutation is responsible for a BSS phenotype observed in the patient.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Kunishima S,Tomiyama Y,Honda S,Fukunishi M,Hara J,Inoue C,Kamiya T,Saito Hkeywords:
subject
Has Abstractpub_date
2000-07-01 00:00:00pages
112-7issue
1eissn
0340-6245issn
2567-689Xpii
00070112journal_volume
84pub_type
杂志文章abstract：:In order to detect impaired synthesis of blood coagulation factors associated to consumption coagulopathy, a simultaneous evaluation of factor II-related antigen (II rAg) and of antithrombin III (AT III) was carried out in 16 patients affected with severe defibrination. An in vitro preliminary study on plasma and seru...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1982-06-28 00:00:00
abstract：:Carbamylation is a non-enzymatic post-translational modification induced upon exposure of free amino groups to urea-derived cyanate leading to irreversible changes of protein charge, structure and function. Levels of carbamylated proteins increase significantly in chronic kidney disease and carbamylated albumin is con...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH16-09-0704
更新日期：2017-05-03 00:00:00
abstract：:A significant proportion of patients with Essential Thrombocythaemia (ET) have thrombotic complications which have an important impact upon the quality, and duration of their life. We performed a retrospective cross sectional study of the prevalence of antiphospholipid antibodies (APA) in 68 ET patients. Compared to 2...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：2002-05-01 00:00:00
abstract：:The content of free-catecholamines in blood platelets is much higher than in plasma and platelet catecholamines must be taken up from plasma, since platelets lack the enzymes for catecholamine synthesis. There is some evidence that platelet catecholamine content under certain circumstances may be an integrated measure...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1988-10-31 00:00:00
abstract：:The haematopoietic hormone erythropoietin (EPO) has neuroprotective properties and is currently being explored for treatment of stroke and other neurological disorders. Short-term, high-dose treatment with EPO seems to improve neurological function of stroke patients but may be associated with increased thrombotic ris...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH07-03-0208
更新日期：2008-04-01 00:00:00
abstract：:A suggestive locus on chromosome 8 could be shown to be associated with familial high factor VIII (FVIII) levels in venous thromboembolism. The ADAMDEC 1 gene is a candidate expressing an ectodomain sheddase. However, the ectodomain of the clearance receptor for FVIII, the low-density lipoprotein receptor-related prot...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章,多中心研究
doi：10.1160/TH08-01-0059
更新日期：2008-05-01 00:00:00
abstract：:When compared to normal megakaryocytes, those from a patient with the giant platelet syndrome exhibited numerous cytochemical abnormalities. These reflected disturbances in the metabolism of RNA, glycogen, arginine-rich histone, and various glycolytic enzymes. Ultrastructural studies of the abnormal megakaryocytes als...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1977-10-31 00:00:00
abstract：:In patients with von Willebrand disease (VWD) replacement therapy with factor VIII/von Willebrand (VWF) concentrates is increasingly applied as prophylactic regimen. Since 2000, 82 consecutively enrolled patients with clinically relevant bleeding episodes (spontaneous, peri- or postoperative) were diagnosed with VWD [...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH10-09-0616
更新日期：2011-04-01 00:00:00
abstract：:The molecular weight profiles of low molecular weight heparin samples have been measured by high-performance gel permeation chromatography using as calibrant the heparinase-degraded material (90/686) now established as the 1st International Reference Preparation (IRP) Low Molecular Weight Heparin for Molecular Weight ...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1997-04-01 00:00:00
abstract：:Echolucent carotid plaques are associated with higher risk for future ischemic cerebrovascular events (CVE) than echogenic plaques independent of the degree of stenosis. Elevated markers of thrombin generation are associated with atherosclerotic plaques and are increased in the acute and chronic phases of CVE. The pre...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH07-08-0493
更新日期：2008-03-01 00:00:00
abstract：:Tissue factor (TF) markedly enhances the ability of factor VIIa (FVIIa) to cleave both macromolecular and small peptidyl substrates. Using soluble mutant TF (sTF) to investigate TF-enhanced FVIIa amidolytic activity in solution, we screened thirty-four commercially available peptidyl-p-nitroanilide substrates and foun...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1993-12-20 00:00:00
abstract：:Aspirin prevents thrombotic events by inhibiting platelet cyclooxygenase-1 (COX-1), thus reducing thromboxane A2 formation and platelet aggregation. The C50T polymorphism of COX-1 is associated with an impaired inhibition of both thromboxane production and in-vitro platelet aggregation by aspirin. We studied whether t...
journal_title：Thrombosis and haemostasis
pub_type： 临床试验,杂志文章
doi：10.1160/TH08-03-0172
更新日期：2008-07-01 00:00:00
abstract：:The effect of supernatant from phorbol myristate acetate (PMA) stimulated human polymorphonuclear granulocytes (PMN) on human factor VII was studied in vitro. The supernatant caused a rapid loss in factor VII coagulant activity by the action of human leukocyte elastase (HLE) and cathepsin G in the supernatant, as demo...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1993-09-01 00:00:00
abstract：:Lipid oxidation products and in particular oxidized phospholipids (OxPL) are increasingly recognized as inducers of chronic inflammation characteristic of atherosclerosis. OxPL stimulate production of chemokines and adhesion of monocytes to endothelial cells. However, accumulating data suggest that, in addition to the...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章,评审
doi：
更新日期：2007-03-01 00:00:00
abstract：:The redistribution of platelet glycoproteins (GP) Ib, IIb and IIIa in response to stimulation with human platelet specific alloantibodies, autoantibodies and a quinidine-dependent antibody was investigated using immunofluorescence and a quantitative radioimmunoassay. The platelet GPs carrying the corresponding epitope...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1987-10-28 00:00:00
abstract：:This study compares the ability of unmodified and carbohydrate-modified forms of factor VIII/von Willebrand factor (FVIII/vWF) protein to bind to platelets in the presence of ristocetin or thrombin. Treatment of intact FVIII/vWF with alpha-D-neuraminidase results in more than 95% desialylation. Asialo FVIII/vWF retain...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1985-06-24 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：:Fibrinogen degradation products formed by the action of purified haemolymph and saliva of a Saturnidae caterpillar of the Lonomia genus were studies by immunoelectrophoresis and polyacrylamide/SDS gel electrophoresis. The pattern of degradation differ form the one described for plasmin, trypsin, brinase, and ochrase. ...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1981-06-30 00:00:00
abstract：:Examination of the entire von Willebrand factor (VWF) gene for mutations, particularly in types 1 and 3 von Willebrand disease (VWD) is becoming more widely practised. The sequence of the entire VWF gene will soon be compiled as a single sequence. For these reasons, a clearly defined nomenclature to use for numbering ...
journal_title：Thrombosis and haemostasis
pub_type： 指南,杂志文章
doi：
更新日期：2001-05-01 00:00:00
abstract：:Platelet aggregation and adenine nucleotides in platelets have been studied in thirteen patients with myeloproliferative disorders. ADP induced aggregation was abnormal in two patients, but collagen induced aggregation was impaired in 11 patients. The concentrations of ATP and ADP in resting platelets in the patients ...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1979-06-30 00:00:00
abstract：:This study was carried out in order to compare the coagulation balance in patients with colorectal cancer before and after surgical removal of tumor with an age matched non-malignancy control group. Furthermore, it was studied whether preoperative coagulation state in cancer patients was correlated to the postoperativ...
journal_title：Thrombosis and haemostasis
pub_type： 临床试验,杂志文章
doi：
更新日期：1996-10-01 00:00:00
abstract：:The kinetics of platelet aggregation induced by collagen and by ADP were studied. The maximum aggregation (deltaLTmax) and the ADP and collagen concentrations required to produce half-maximum aggregation (Kd) were determined using platelets obtained from normal individuals, individuals who ingested aspirin and individ...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1977-04-30 00:00:00
abstract：:The effects of mental stress (a colour word conflict test, CWT) and adrenaline infusions (0.1 and 0.4 nmol kg-1 min-1) on t-PA activity, t-PA antigen, PAI-1 activity and PAI-1 antigen were studied in 18 healthy male volunteers. Furthermore, the effects of metoprolol (200 mg/day during 1 week) or placebo (double-blind ...
journal_title：Thrombosis and haemostasis
pub_type： 临床试验,杂志文章
doi：
更新日期：1990-06-28 00:00:00
abstract：:We investigated the influence of low molecular weight dextran sulfate (LMWdxs) and low molecular weight heparins (LMWH: dalteparin, enoxaparin and nadroparin) on the inhibition of FXIa by C1-inhibitor, alpha1-antitrypsin, alpha2-antiplasmin and antithrombin in a purified system and in plasma. The second order rate con...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1998-07-01 00:00:00
abstract：:Although there is considerable variability of platelet reactivity among patients treated with clopidogrel, little is known about inter-individual differences and possible role of proton pump inhibitors (PPIs) after prasugrel. We defined the extent of inter-patient variability, and evaluated the impact of PPI interacti...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章,多中心研究
doi：10.1160/TH11-09-0622
更新日期：2012-02-01 00:00:00
abstract：:Plasminogen activator inhibitor type-1 (PAI-1) is a physiologic modulator of the fibrinolytic system. We have shown previously that PAI-1 biosynthesis in cultured cells depends on several factors in serum. Because platelets are richly endowed with specific growth factors and because the release reaction is an integral...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1991-08-01 00:00:00
abstract：:Hereditary defects of the von Willebrand factor (VWF) gene cause von Willebrand's disease (VWD) which shows great variability dependent on the nature and location of the mutation. We here describe the characteristics of a substitution of methionine for threonine 1156 in the D3 domain of the VWF, i.e. the domain involv...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：2002-09-01 00:00:00
abstract：:Electronic free platelet counting was more sensitive than turbidimetry to detect collagen-induced platelet activation in human platelet-rich plasma. Purified human C1q exhibited a greater inhibitory effect on collagen-induced platelet aggregation in turbidimetry than free platelet counting. Because the change from sma...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：
更新日期：1987-08-04 00:00:00
abstract：:High heparin cofactor II (HCII) activity has recently been described to protect from coronary instent restenosis, presumably by inactivating thrombin in injured arteries. In this study, we investigated the association of HCII activity and restenosis after femoropopliteal stenting. We studied 63 consecutive patients wi...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1160/TH04-05-0311
更新日期：2004-11-01 00:00:00
abstract：:Sepsis triggers a complex series of pathophysiologic events involving inflammatory responses and coagulation abnormalities. While circulating blood platelets are well-characterized for their contributions to coagulation, increasingly platelet-dependent effects on inflammation are being recognized. Here, we focus on th...
journal_title：Thrombosis and haemostasis
pub_type： 杂志文章
doi：10.1055/s-0038-1676794
更新日期：2019-03-01 00:00:00
