Abstract:
:We report genetic abnormalities of protein C gene in a male infant who developed neonatal purpura fulminans. DNA-sequence analysis of all exons in protein C gene in this family revealed two mutations. The first abnormality, derived from the mother, was a deletion of one of four consecutive G at nucleotide number 10758 in exon IX which would result in a frame shift mutation and completely change amino acid sequence from Gly381 in the carboxyl-terminal region of protein C. The second abnormality, derived from the father, was a single nucleotide mutation from G to A in the codon (GAG to AAG) at nucleotide number 2977 in exon III, which would result in a substitution of Lys for gamma-carboxyglutamic acid (Gla)26. This change would be responsible for the reduced immunological protein C levels of the patient and the father, estimated by a monoclonal antibody which recognizes the Gla-domain in a Ca(2+)-dependent manner (3.8% and 57%, respectively). Partially purified abnormal protein C from the father's plasma showed a normal amidolytic activity and a change in the electrophoretic mobility. We detected the above mutations in his family members using two methods; one was a creation of new restriction enzyme sites using mutagenic primers and the other was single nucleotide primer extension. Both methods are rapid and useful for the diagnosis of prenatal protein C abnormalities.
journal_name
Thromb Haemostjournal_title
Thrombosis and haemostasisauthors
Ido M,Ohiwa M,Hayashi T,Nishioka J,Hatada T,Watanabe Y,Wada H,Shirakawa S,Suzuki Ksubject
Has Abstractpub_date
1993-10-18 00:00:00pages
636-41issue
4eissn
0340-6245issn
2567-689Xjournal_volume
70pub_type
杂志文章abstract::Pharmacological prophylaxis for postoperative venous thromboembolism is generally restricted to the hospital stay. A high incidence of deep vein thrombosis (DVT) and pulmonary embolism presenting after hospital discharge has been reported and thus it has been claimed that pharmacological prophylaxis should be continue...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1995-10-01 00:00:00
abstract::Protein C is an important inhibitor of blood coagulation. We investigated the effect of two polymorphisms within the promoter region of the protein C gene (C/T at position 2405 and A/G at position 2418) on risk of venous thrombosis and on plasma protein C levels. In addition the combined effect of the two polymorphism...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2009-01-01 00:00:00
abstract::Patients treated with high doses of interleukin-2 (IL-2) because of cancer, develop hemodynamic and vasopermeability changes, that resemble those observed in sepsis. These patients thus provide a unique opportunity to study the early events in the development of septic shock. We analysed the changes that occurred in t...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1991-05-06 00:00:00
abstract::Knowledge on the natural history of mesenteric vein thrombosis (MVT) and of the efficacy and safety of long-term oral anticoagulant therapy (OAT) in this setting is based on small uncontrolled series of patients with a limited follow-up. It was the aim of the study to assess the natural history of MVT in a cohort of p...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:10.1160/TH08-12-0842
更新日期:2009-09-01 00:00:00
abstract::Despite great efforts in stroke research, disability and recurrence rates in ischaemic stroke remain unacceptably high. To address this issue, one potential target for novel therapeutics is the glycoprotein von Willebrand factor (vWF), which increases in thrombogenicity especially under high shear rates as it bridges ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0038-1648251
更新日期:2018-06-01 00:00:00
abstract::The core protein components of the plasminogen activator (PA) system are two plasminogen activators, two plasminogen activator inhibitors and a urokinase type plasminogen activator-specific cell surface receptor. Various types of biological regulation are exerted through the interplay of these components mutually and ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1160/TH04-12-0814
更新日期:2005-04-01 00:00:00
abstract::Haemophilia A and B have been associated with increased prevalence of low bone mineral density (BMD). However, no study has so far evaluated the effects of anti-osteoporotic therapy on BMD in haemophilia.The primary endpoint of this prospective study was to estimate the effect of 12-month therapy of oral ibandronate 1...
journal_title:Thrombosis and haemostasis
pub_type: 临床试验,杂志文章
doi:10.1160/TH13-01-0030
更新日期:2013-08-01 00:00:00
abstract::Low molecular weight heparin (LMWH) is used increasingly for prophylaxis and treatment of venous thromboembolism during pregnancy. However, the prophylactic dose for patients at moderate risk varies between centers, and the recommended LMWH dose for the non pregnant patient is frequently used in pregnant women. The ai...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH03-10-0618
更新日期:2004-10-01 00:00:00
abstract::The effect of thrombin on the phosphorylating activity of platelet membranes was compared to that of trypsin. Preincubation of non-32P phosphorylated platelet membranes with or without either of these two enzymes resulted in a considerable loss of membrane protein kinase activity which was most severe when trypsin was...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1976-06-30 00:00:00
abstract::Charge-to-alanine mutations of three amino acid residues, viz, D46, D48, and D/Hya71, which are known to be important in stabilizing Ca2+ binding to epidermal growth factor (EGF) domains of vitamin K-dependent blood coagulation proteins, have been engineered into recombinant human protein C (r-PC). The resulting varia...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1996-11-01 00:00:00
abstract::The burden of disease in haemophilia patients has wide ranging implications for the family and to society. There is evidence that having a current inhibitor increases the risk of morbidity and mortality. Morbidity is increased by the inability to treat adequately and its consequent disabilities, which then equates to ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH16-01-0049
更新日期:2016-08-31 00:00:00
abstract::Tridegin is a potent inhibitor of factor XIIIa from the leech, Haementeria ghilianii, which inhibits protein cross-linking. It modifies plasmin-mediated fibrin degradation as shown by the absence of D-dimer and approximately halves the time for fibrinolysis. Plasma clots formed in the presence of Tridegin lyse more ra...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1997-05-01 00:00:00
abstract::Fresh retracted clots are known to be poorly lysable by fibrinolytic agents. We have studied whether lysis of retracted clots could be enhanced by bulk transport in comparison to pure diffusion of plasma containing urokinase (400 IU/ml) into the clots. Cylindrical retracted blood clots were occlusively glued by a poly...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1992-12-07 00:00:00
abstract::Haemorrhagic metalloproteinases from Bothrops jararaca and other venoms degrade vessel-wall and plasma proteins involved in platelet plug and fibrin clot formation. These enzymes also cause proteolytic digestion of fibrinogen which has been suggested to cause defective platelet function. Fibrinogen degradation by jara...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1994-08-01 00:00:00
abstract::Asymmetric dimethylarginine (ADMA), myeloperoxidase (MPO) and paraoxonase 1 (PON1) are directly involved in the pathogenesis of atherosclerosis by modulation of oxidative stress and/or NO bioavailability. We aimed to assess whether endurance exercise which is known to be cardioprotective could beneficially affect thes...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH05-03-0158
更新日期:2005-12-01 00:00:00
abstract::Prothrombin complex concentrates (PCCs) and fresh-frozen plasma (FFP) have been clinically used for acute warfarin reversal. The recovery of prothrombin time (PT) or international normalised ratio (INR) is often reported as an endpoint, but haemostatic efficacies of PCCs and FFP may not be fully reflected in static cl...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH11-04-0240
更新日期:2011-12-01 00:00:00
abstract::Following exposure of rats to graded doses of fresh cigarette smoke, the aortic endothelium examined by scanning electron microscopy regularly showed alterations. These essentially consisted of areas of blebbing and microvillus-like projections from the luminal surface, and the presence in the majority of cases, of mi...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1982-10-29 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 have previously suggested that the human homologue of the Drosophila transient receptor potential protein, TRPC1, is involved in conducting store-operated Ca2+ entry (SOCE) in human platelets since an antibody raised against the pore-forming region of TRPC1 inhibited SOCE. Here we have investigated plasma membrane ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH05-06-0391
更新日期:2005-10-01 00:00:00
abstract::We have devised an improved high pressure liquid chromatographic technique whereby serotonin, nucleosides, cyclic nucleotides, namely cAMP and cGMP, and 5'mono-, 5'di-, and 5'tri-nucleotides can be analyzed. The cyclic nucleotides have been measured in picomolar quantities. All nucleotides can be quantitated in a sing...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1977-12-15 00:00:00
abstract::Proteins in the plasma membrane anchor the cell within its microenvironment and sense changes occurring outside the cell. The anchoring interactions are cell type-specific and may involve adjacent cells or extracellular matrix proteins (ECMPs). In development, wound healing, and in various forms of pathology, includin...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1160/TH04-01-0023
更新日期:2004-06-01 00:00:00
abstract::The behavior of direct fibrinolytic (non-plasmin) proteinase activity and plasminogen-activator activity in the lung and spleen was investigated in rats after a single intravenous injection of bacterial endotoxin, and the influence of thrombin inhibitors on the effects of the endotoxin was assessed. The non-plasmin fi...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1985-06-24 00:00:00
abstract::Recently we prepared sulfated, low-molecular-weight lignins (LMWLs) to mimic the biological activities of heparin and heparan sulfate. Chemo-enzymatically prepared sulfated LMWLs represent a library of diverse non-sugar, aromatic molecules with structures radically different from the heparins, and have been found to p...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:10.1160/TH09-07-0454
更新日期:2010-03-01 00:00:00
abstract::Vasopressin infusions in normal volunteers that produce concentrations in plasma comparable to those seen during stress, cause an increase in plasma factor VIII and shortening of the euglobulin clot lysis time (ECLT). We have investigated the relationship between endogenous vasopressin (aVP) release and haemostatic fu...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1986-02-28 00:00:00
abstract::Many studies showed that the occurrence of cardiovascular and cerebrovascular events exhibits a seasonal and monthly variation. Evidences of a seasonal and monthly variation in the incidence of venous thromboembolism (VTE) are more conflicting. We conducted a systematic review and a meta-analysis of the literature to ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,meta分析,评审
doi:10.1160/TH11-02-0116
更新日期:2011-09-01 00:00:00
abstract::The synthetic peptide SFLLRNPNDKYEPF, identical in sequence to the new amino-terminus of the thrombin receptor generated following cleavage of thrombin, acts a thrombin receptor agonist/activating peptide (TRAP). In this study, Northern blot analysis showed that cultured human vascular smooth muscle cells (HVSMC) expr...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:1995-11-01 00:00:00
abstract::Atherosclerosis is a prevalent inflammatory condition and a frequent cause of morbidity and mortality worldwide. Macrophages are among the key immune cells driving lesion formation in the arterial wall. They have therefore evolved as potential targets for therapeutic strategies. Understanding of the different macropha...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,评审
doi:10.1055/s-0039-1692665
更新日期:2019-08-01 00:00:00
abstract::Homozygous carriers of factor V Leiden have an approximately 80-fold increased risk of venous thrombosis. Also double heterozygous carriers of both the factor V Leiden and the prothrombin gene mutations are at high thrombotic risk. The magnitude of the risk of venous thrombosis in pregnant women with the two severe th...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章,多中心研究
doi:
更新日期:2001-09-01 00:00:00
abstract::Individuals with lupus anticoagulants (LA) are at risk for thromboembolism (TE). Chronic inflammation is an important characteristic in LA patients which may dispose for TE. Platelets play a key role in inflammation and TE. We therefore investigated gene polymorphisms as well as plasma levels of platelet receptors as ...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2007-04-01 00:00:00
abstract::Vascular cell adhesion molecule 1 (VCAM-1, CD106) is expressed as a type I transmembrane integrin counter-receptor on activated endothelium and mediates white blood cell attachment. The alternatively spliced 7-domain (7d) form of VCAM-1 contains a potential thrombin cleavage site. Thrombin proteolysis of 7d-VCAM-1 may...
journal_title:Thrombosis and haemostasis
pub_type: 杂志文章
doi:
更新日期:2006-05-01 00:00:00