First case of sporadic protein S deficiency due to a novel candidate mutation, Ala 484-->Pro, in the protein S active gene (PROS1).

Abstract:

:In a series of 16 propositi with symptomatic protein S deficiency and a protein S gene mutation, we identified a sporadic case of a novel mutation that probably affects gene expression. The mutation, a G to C transversion leading to the substitution of Ala 484 by Pro, was not found in the protein S gene of the patient's parents. Transmission of the paternal and maternal protein S alleles was apparently normal, on the basis of the frequent polymorphism in exon XV. We also checked the transmission of chromosomal material by analysing protein C gene polymorphisms, beta-globin gene frameworks and four variable number of tandem repeats (VNTRs). By combining the results of these analyses, we were able to rule out nonpaternity and to confirm the de novo nature of the mutation.

journal_name

Thromb Haemost

authors

Borgel D,Jude B,Aiach M,Gandrille S

subject

Has Abstract

pub_date

1996-06-01 00:00:00

pages

883-6

issue

6

eissn

0340-6245

issn

2567-689X

journal_volume

75

pub_type

杂志文章
  • Temporal variability in the antiplatelet effects of clopidogrel and aspirin after elective drug-eluting stent implantation. An ADAPT-DES substudy.

    abstract::Given conflicting data on temporal variability in pharmacodynamic platelet responses to clopidogrel, we investigated platelet reactivity on clopidogrel and aspirin for up to six months after elective percutaneous coronary intervention (PCI) with drug-eluting stents. Platelet reactivity was determined in 102 patients b...

    journal_title:Thrombosis and haemostasis

    pub_type: 临床试验,杂志文章

    doi:10.1160/TH15-03-0257

    authors: Nührenberg TG,Stratz C,Leggewie S,Hochholzer W,Valina CM,Gick M,Kirtane AJ,Stone GW,Neumann FJ,Trenk D

    更新日期:2015-11-01 00:00:00

  • The effect of monthly ibandronate on bone mineral density and bone turnover markers in patients with haemophilia A and B and increased risk for fracture.

    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

    authors: Anagnostis P,Vyzantiadis TA,Charizopoulou M,Adamidou F,Karras S,Goulis DG,Karagiannis A,Garipidou V,Vakalopoulou S

    更新日期:2013-08-01 00:00:00

  • Anti-thrombotic effect of a PAI-1 inhibitor in rats given endotoxin.

    abstract::The aim of this study was to investigate the anti-thrombotic effects of an inhibitor of the plasminogen activator inhibitor-1 (PAI-1) in rats given endotoxin. In studies in vitro, PRAP-1, a Fab-fragment of a polyclonal antibody against human PAI-1, was shown to inhibit PAI-1 activity in rat plasma as well as to stimul...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Abrahamsson T,Nerme V,Strömqvist M,Akerblom B,Legnehed A,Pettersson K,Westin Eriksson A

    更新日期:1996-01-01 00:00:00

  • Genetic risk factors for superficial vein thrombosis.

    abstract::Inherited thrombophilic states are associated with an increased risk for deep vein thrombosis (DVT), but whether they are also risk factors for superficial vein thrombosis (SVT) is uncertain. We assessed the risk conferred by inherited thrombophilic states in patients with a first episode of SVT in whom the coexistenc...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Martinelli I,Cattaneo M,Taioli E,De Stefano V,Chiusolo P,Mannucci PM

    更新日期:1999-10-01 00:00:00

  • Tissue factor procoagulant activity of plasma microparticles is increased in patients with early-stage prostate cancer.

    abstract::Tissue factor (TF) plays a critical role in tumour growth and metastasis, and its enhanced release into plasma in association with cellular microparticles (MPs) has recently been associated with pathological cancer progression. We have previously demonstrated significantly elevated levels of plasma TF antigen as well ...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Haubold K,Rink M,Spath B,Friedrich M,Chun FK,Marx G,Amirkhosravi A,Francis JL,Bokemeyer C,Eifrig B,Langer F

    更新日期:2009-06-01 00:00:00

  • Characterisation of epitopes on human tissue plasminogen activator recognised by a group of monoclonal antibodies.

    abstract::Seven mouse monoclonal antibodies have been produced against human melanoma tissue plasminogen activator (t-PA). They were specifically bound to 125I t-PA but not 125I urokinase (u-PA) and inhibited t-PA, but not u-PA, activity in plasminogen-rich 125I fibrin wells. Three of the antibodies directly inhibited the amido...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: MacGregor IR,Micklem LR,James K,Pepper DS

    更新日期:1985-02-18 00:00:00

  • Platelet Activation by Antiphospholipid Antibodies Depends on Epitope Specificity and is Prevented by mTOR Inhibitors.

    abstract::Antiphospholipid antibodies (aPL) have been reported to activate platelets. This is considered to be one of the pathogenic properties of aPL. Even though aPL heterogeneity is quite well established, little is known, if the ability to activate platelets is common to all aPL or depends on antigen specificity. To further...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1055/s-0039-1685453

    authors: Hollerbach A,Müller-Calleja N,Ritter S,Häuser F,Canisius A,Orning C,Jurk K,Lackner KJ

    更新日期:2019-07-01 00:00:00

  • The second laminin G-type domain of protein S is indispensable for expression of full cofactor activity in activated protein C-catalysed inactivation of factor Va and factor VIIIa.

    abstract::Vitamin K-dependent protein S is a cofactor to the anticoagulant serine protease activated protein C (APC) in the proteolytic inactivation of the procoagulant, activated factor V (FVa) and factor VIII (FVIIIa). In the FVa degradation, protein S selectively accelerates the cleavage at Arg306, having no effect on the Ar...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Evenäs P,García de Frutos P,Nicolaes GA,Dahlbäck B

    更新日期:2000-08-01 00:00:00

  • Induction of vasoactive substances differs in LPS-induced and TF-induced DIC models in rats.

    abstract::We have investigated the role of two vasoactive substances, nitric oxide (NO)and endothelin (ET), in the pathophysiology of disseminated intravascular coagulation (DIC), using two types of DIC models. Experimental DIC was induced by sustained infusion of 0.1, 1, 10, or 50 mg/kg lipopolysaccharide (LPS), or 3.75 U/kg t...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Asakura H,Okudaira M,Yoshida T,Ontachi Y,Yamazaki M,Morishita E,Miyamoto K,Nakao S

    更新日期:2002-10-01 00:00:00

  • Inhibitor to factor VIII in mild haemophilia.

    abstract::Factor VIII inhibitors in mild haemophilia are uncommon and the management of such patients is controversial. The development of a persistently high responding F VIII inhibitor in a mild haemophiliac is reported and the behaviour of the inhibitor discussed in the context of the various therapeutic regimes employed for...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Kesteven PJ,Holland LJ,Lawrie AS,Savidge GF

    更新日期:1984-08-31 00:00:00

  • Monocytes of Different Subsets in Complexes with Platelets in Patients with Myocardial Infarction.

    abstract::Acute myocardial infarction (AMI) is associated with activation of various cells, including platelets that form monocyte-platelet complexes (MPCs). Here, we analysed MPC in vivo and in vitro and investigated the abilities of different monocyte subclasses to form MPC, the characteristics of the cells involved in MPC fo...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1055/s-0038-1673342

    authors: Loguinova M,Pinegina N,Kogan V,Vagida M,Arakelyan A,Shpektor A,Margolis L,Vasilieva E

    更新日期:2018-11-01 00:00:00

  • The organomercurial 4-aminophenylmercuric acetate, independent of matrix metalloproteinases, induces dose-dependent activation/inhibition of platelet aggregation.

    abstract::Matrix metalloproteinases (MMPs) play an important role in many biological and pathological processes including tissue remodeling, wound healing, inflammation, atherosclerosis, and cancer. Numerous publications have supported the concept that activated MMP-2 enhances agonist-induced platelet aggregation and activated ...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH04-08-0541

    authors: Rosenfeldt MT,Valentino M,Labruzzo S,Scudder L,Pavlaki M,Cao J,Vacirca J,Bahou WF,Zucker S

    更新日期:2005-02-01 00:00:00

  • The antigenic binding sites of autoantibodies to factor XII in patients with recurrent pregnancy losses.

    abstract::Recently, numerous studies have suggested an association between factor XII (FXII) deficiency and recurrent pregnancy losses, and between autoantibodies to FXII and recurrent pregnancy losses. Autoantibodies to FXII rather than FXII deficiency may be a risk factor for recurrent pregnancy losses. To know the pathogenes...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH07-07-0447

    authors: Inomo A,Sugi T,Fujita Y,Matsubayashi H,Izumi S,Mikami M

    更新日期:2008-02-01 00:00:00

  • Polymorphisms of the plasminogen activator inhibitor-1 gene in type 1 and type 2 diabetes, and in patients with diabetic retinopathy.

    abstract::To identify whether genotype contributes to the difference in PAI-1 levels in type 1 and type 2 diabetic subjects and whether genotype relates to the development of retinopathy, a Hind III restriction fragment length polymorphism and two dinucleotide repeat polymorphisms were studied. In 519 Caucasian diabetic subject...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Mansfield MW,Stickland MH,Carter AM,Grant PJ

    更新日期:1994-06-01 00:00:00

  • Pathophysiological considerations to thrombophilia in the treatment of multiple myeloma with thalidomide and derivates.

    abstract::Lenalidomide, a derivate of thalidomide, has recently been approved in Europe for the treatment of patients with multiple myeloma. Although the substance has a better effect/side-effect profile, especially with regard to teratogenicity and neurotoxicity, the rate of therapy-induced thrombosis seems comparable to thali...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,评审

    doi:10.1160/TH08-01-0009

    authors: Gieseler F

    更新日期:2008-06-01 00:00:00

  • Aggregation of washed platelets from non-anticoagulated human blood is not reversible.

    abstract::Most of the knowledge acquired on platelet function and biochemistry has been obtained from platelets prepared from blood anticoagulated with sodium citrate. Using washed platelets from human blood (PNB) to which no anticoagulants were added, we report on responses not observed with platelets prepared from citrate-ant...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Bowry SK,Müller-Berghaus G

    更新日期:1986-10-21 00:00:00

  • Thrombin generation, a function test of the haemostatic-thrombotic system.

    abstract::By the use of a fluorogenic thrombin substrate and continuous calibration of each individual sample, it is now possible to obtain a thrombin generation (TG) curve (or thrombogram) in plasma, with or without platelets, in an easy routine procedure at high throughput and with an acceptable experimental error (<5%). Evid...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,评审

    doi:

    authors: Hemker HC,Al Dieri R,De Smedt E,Béguin S

    更新日期:2006-11-01 00:00:00

  • The effects of different alcoholic drinks on lipids, insulin and haemostatic and inflammatory markers in older men.

    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

    authors: Wannamethee SG,Lowe GD,Shaper G,Whincup PH,Rumley A,Walker M,Lennon L

    更新日期:2003-12-01 00:00:00

  • Genistein alters coagulation gene expression in ovariectomised rats treated with phytoestrogens.

    abstract::Recent data has shown that hormone therapy (HT) increases the risk of cardiovascular and thromboembolic disease, particularly in users of oral HT. Phytoestrogens are popular alternatives to oestrogen therapy; however, their effects on cardiovascular risk are unknown. We investigated the effect of the phytoestrogen, ge...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH10-03-0201

    authors: Kelly LA,O'Leary JJ,Seidlova-Wuttke D,Wuttke W,Norris LA

    更新日期:2010-12-01 00:00:00

  • VTE primary prevention, including hospitalised medical and orthopaedic surgical patients.

    abstract::Primary prevention is the key to managing a significant proportion of the burden of venous thromboembolism (VTE), defined as deep venous thrombosis (DVT) or pulmonary embolism (PE). This is because VTE may lead to sudden death or are often misdiagnosed and therefore treatment is not feasible. Primary prevention usuall...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,评审

    doi:10.1160/TH14-10-0823

    authors: Granziera S,Cohen AT

    更新日期:2015-06-01 00:00:00

  • Platelet survival in patients with dilated cardiomyopathy.

    abstract::Dilated cardiomyopathy is associated with thromboembolic complications, which correlate poorly, however, with a visible left ventricular thrombus. Therefore, this study was performed to assess whether an abnormality of platelet function in vivo can be detected in patients with dilated cardiomyopathy. Platelet survival...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Weidinger F,Glogar D,Sochor H,Sinzinger H

    更新日期:1991-10-01 00:00:00

  • Heterogeneity of molecular size of factor VIII/von Willebrand factor in von Willbrand's disease.

    abstract::Patterns of VIIIR:AG in the plasma and its fractions, cryoprecipitate and cryosupernatant, from various types of von Willebrand's disease (vWd) were observed by SDS 1.5% polyacrylamide gel electrophoresis - cross immunoelectrophoresis (SDS PAGE - CIE). VIIIR:AG in normal cryoprecipitate showed several precipitin peaks...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Mikami S,Takahashi Y,Nishino M,Okubo Y,Fukui H

    更新日期:1981-06-30 00:00:00

  • An association between oxygen desaturation and D-dimer in patients with obstructive sleep apnea syndrome.

    abstract::D-dimer, a degradation product of fibrin, is being increasingly used as a marker and prognostic factor in various thrombotic diseases. Previous reports have shown that obstructive sleep apnea is associated with platelet activation and hypercoagulability. The aim of the study was to assess the potential role of the pla...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Shitrit D,Peled N,Shitrit AB,Meidan S,Bendayan D,Sahar G,Kramer MR

    更新日期:2005-09-01 00:00:00

  • Evolution of Factor V Leiden.

    abstract::Factor V Leiden is a procoagulant mutation associated with venous and arterial thrombosis and pregnancy complications. Its high prevalence of 5% in Caucasians suggests that there are evolutionary benefits as well. Carriers are indeed reported to have various advantageous phenotypes related to haemostasis, inflammation...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章,评审

    doi:10.1160/TH13-02-0115

    authors: van Mens TE,Levi M,Middeldorp S

    更新日期:2013-07-01 00:00:00

  • Localization and translocation of MMP-2 during aggregation of human platelets.

    abstract::We have previously shown that human platelets express matrix metalloproteinase-2 (MMP-2) and that the release of this enzyme during platelet activation mediates the ADP- and thromboxane-independent part of aggregation. We have now used immunogold electron microscopy, flow cytometry. Western blot analysis and zymograph...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Sawicki G,Sanders EJ,Salas E,Wozniak M,Rodrigo J,Radomski MW

    更新日期:1998-11-01 00:00:00

  • Detection and neutralisation of heparin by a fluorescent ruthenium compound.

    abstract::Heparin and low-molecular-weight heparin (LMWH) are commonly monitored by determination of activated clotting times or chromogenic assays. Despite their wide use, these assays determine the biological activity and not the concentration of the anticoagulants. They may be inaccurate in some circumstances such as certain...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH09-03-0168

    authors: Szelke H,Harenberg J,Krämer R

    更新日期:2009-11-01 00:00:00

  • Studies on the degradation of fibrinogen by proteolytic enzymes from the larvae of Lanomia achelous (Cramer).

    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:

    authors: Arocha-Piñango CL,Perales J,Carvajal Z

    更新日期:1981-06-30 00:00:00

  • Lysyl oxidase (LOX) in vascular remodelling. Insight from a new animal model.

    abstract::Lysyl oxidase (LOX) is an extracellular matrix-modifying enzyme that seems to play a critical role in vascular remodelling. However, the lack of viable LOX-deficient animal models has been an obstacle to deep in LOX biology. In this study we have developed a transgenic mouse model that over-expresses LOX in vascular s...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:10.1160/TH14-01-0024

    authors: Orriols M,Guadall A,Galán M,Martí-Pàmies I,Varona S,Rodríguez-Calvo R,Briones AM,Navarro MA,de Diego A,Osada J,Martínez-González J,Rodríguez C

    更新日期:2014-10-01 00:00:00

  • Modulation of fibrinolytic and gelatinolytic activity during adipose tissue development in a mouse model of nutritionally induced obesity.

    abstract::A nutritionally induced obesity model was used to investigate the modulation of fibrinolytic and gelatinolytic activity during the development of adipose tissue. Five week old male mice were fed a standard fat diet (SFD, 13% kcal as fat) or a high fat diet (HFD, 42% kcal as fat) for up to 15 weeks. The HFD resulted in...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Lijnen HR,Maquoi E,Demeulemeester D,Van Hoef B,Collen D

    更新日期:2002-08-01 00:00:00

  • High molecular weight forms of antithrombin III complexes in blood.

    abstract::A double antibody competition radioimmunoassay was developed that allowed to detect specifically as little as 15 ng antithrombin III (AT III) per ml of the assayed material. In normal plasma examined by this assay, AT III concentration averaged 199 +/- 21 micrograms/ml. Complexes of AT III with thrombin or factor Xa c...

    journal_title:Thrombosis and haemostasis

    pub_type: 杂志文章

    doi:

    authors: Marciniak E,Gora-Maslak G

    更新日期:1983-02-28 00:00:00