当前位置： SCI文献检索 > THROMBOSIS AND HAEMOSTASIS期刊下所有文献 > A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.

A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.

Abstract：

:Congenital afibrinogenemia and severe hypofibrinogenemia are severe bleeding disorders characterized by either undetectable or very low levels of fibrinogen in patients' plasma and platelets. A majority of the reported cases are caused by mutations in the fibrinogen Aalpha chain. In this study, we identified a genetic defect in the fibrinogen Bbeta-chain (FGB) underlying severe hypofibrinogenemia. The propositus frequently displayed bleeding episodes with a prolonged blood-clotting time (thrombin time > 180 s, activated partial thromboplastin time > 300 s, prothrombin time > 120 s) and had a very low level of plasma fibrinogen (1.7-1.8 mg/dl). His parents had a consanguineous marriage, and their functional and immunological fibrinogen was approximately half of the normal level. The platelet fibrinogen level of the propositus could not be detected by western blotting, and his platelet aggregation was severely impaired. DNA screening of the whole fibrinogen gene revealed a homozygous GGGG-->GGG mutation at nucleotide 7,969-7,972 in his FGB gene. The propositus' parents are both heterozygous for this mutation. This mutation contributes to Gly419-->Val, and the 419-434 codons are frame shifted, and a stop codon is formed at codon 435. The predicted truncated Bbeta-chain is 27 amino acids shorter than the normal Bbeta-chain and a central beta-strand in the globular betaC domain is absent, which may lead to destabilization of the entire beta-domain. To the best of our knowledge, this is the first report of such a mutation which is associated with severe hypofibrinogenemia.

journal_name

Thromb Haemost

journal_title

Thrombosis and haemostasis

authors

Xu X,Wu J,Zhai Z,Zhou R,Wang X,Wang H,Ding K,Sun Z,Ni H

doi

10.1160/TH06-01-0020

subject

Has Abstract

pub_date

2006-06-01 00:00:00

pages

931-5

issue

6

eissn

0340-6245

issn

2567-689X

pii

06060931

journal_volume

95

pub_type

杂志文章

相关文献

THROMBOSIS AND HAEMOSTASIS文献大全
  • Red blood cell distribution width is associated with poor clinical outcome in acute cerebral infarction.

    abstract：:Increased red blood cell distribution width (RDW), which is a marker of anisocytosis, is associated with mortality and cardiovascular events in the general population and in patients with heart failure or coronary heart disease. We investigated whether RDW in acute cerebral infarction is predictive of functional outco...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：10.1160/TH12-03-0165

    authors： Kim J,Kim YD,Song TJ,Park JH,Lee HS,Nam CM,Nam HS,Heo JH

    更新日期：2012-08-01 00:00:00

  • Molecular signature of coronary stent thrombosis: oxidative stress and innate immunity cells.

    abstract：:The clinical impact of in-stent thrombosis is high because it is associated with high mortality and 20 % of the patients suffer a recurrent event within the two following years. The aim of this study was to characterise the morphologic and proteomic profile of in-stent thrombi (IST) in comparison to thrombi developed ...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：10.1160/TH17-03-069

    authors： Cubedo J,Blasco A,Padro T,Ramaiola I,Juan-Babot O,Goicolea J,Fernández-Díaz JA,Oteo JF,Badimon L

    更新日期：2017-08-30 00:00:00

  • Changes in the levels of soluble adhesion molecules and coagulation factors in patients with deep vein thrombosis.

    abstract：:Current biochemical markers of thrombosis, such as d-dimer, are of little value in demonstrating the presence of thrombus postoperatively, as their levels are elevated by surgery. Thrombosis involves adhesive interactions between the endothelium, platelets and leukocytes. The aim of the study was to determine which of...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： Smith A,Quarmby JW,Collins M,Lockhart SM,Burnand KG

    更新日期：1999-12-01 00:00:00

  • Fibrin glue for wound repair: facts and fancy.

    abstract：:In wound repair, fibrin has a multiplicity of activities, some of which are intrinsic to the protein itself and some attributable to other blood constituents associated with the fibrin clot. Fibrin sealants, which have been approved for hemostasis in the US and Europe, are occasionally used wounds to promote healing. ...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章,评审

    doi：10.1160/TH03-08-0526

    authors： Clark RA

    更新日期：2003-12-01 00:00:00

  • Formation and persistence of procoagulant and fibrinolytic activities in circulation after strenuous physical exercise.

    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：

    authors： Hansen JB,Wilsgård L,Olsen JO,Osterud B

    更新日期：1990-11-30 00:00:00

  • Age-and sex-specific seasonal variation of venous thromboembolism in patients with and without family history: a nationwide family study in Sweden.

    abstract：:Seasonal variation in venous thromboembolism (VTE) risk in individuals with familial predisposition to VTE has not been explored. This nationwide study aimed to determine whether there are age- and sex-specific seasonal differences in risk of hospitalisation of VTE among individuals with and without a family history o...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：10.1160/TH13-04-0320

    authors： Zöller B,Li X,Ohlsson H,Sundquist J,Sundquist K

    更新日期：2013-12-01 00:00:00

  • Inter-patient variability and impact of proton pump inhibitors on platelet reactivity after prasugrel.

    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

    authors： Aradi D,Kuliczkowski W,Atar D,Serebruany VL

    更新日期：2012-02-01 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

  • Is prolonged immobilization a risk factor for symptomatic venous thromboembolism in elderly bedridden patients? Results of a historical-cohort study.

    abstract：:Prolonged immobilization and advanced age are considered to be important risk factors for venous thromboembolism (VTE). Nevertheless, the need for VTE prophylaxis in long-term bedridden patients is not known. To assess whether very prolonged immobilization (i.e. over three months) carries an increased risk for clinica...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：10.1160/TH03-07-0481

    authors： Gatt ME,Paltiel O,Bursztyn M

    更新日期：2004-03-01 00:00:00

  • Khorana score and histotype predicts incidence of early venous thromboembolism in non-Hodgkin lymphomas. A pooled-data analysis of 12 clinical trials of Fondazione Italiana Linfomi (FIL).

    abstract：:Current data suggests that the risk of venous thromboembolism (VTE) in patients with non-Hodgkin lymphoma (NHL) is comparable to that observed in patients with solid tumours, although more robust confirmatory analyses are required. With that in mind, we investigated the occurrence of VTE in a pooled analysis of 12 "Fo...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：10.1160/TH16-11-0895

    authors： Santi RM,Ceccarelli M,Bernocco E,Monagheddu C,Evangelista A,Valeri F,Monaco F,Vitolo U,Cortelazzo S,Cabras MG,Spina M,Baldini L,Boccomini C,Chiappella A,Bari A,Luminari S,Visco C,Calabrese M,Limberti G,Levis A,Con

    更新日期：2017-04-27 00:00:00

  • Tissue factor pathway inhibitor (TFPI) levels in the plasma and urine of children with meningococcal disease.

    abstract：:Tissue factor pathway inhibitor (TFPI) is a potent inhibitor of the TF-dependent coagulation system. In meningococcal disease, up-regulation of tissue factor expression on blood monocytes and possibly on endothelial cells has the potential to trigger the activation of the TF-dependent pathway of coagulation. Intravasc...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： Eling M,Stephens AC,Oragui EE,Rivers RP,Levin M

    更新日期：2001-02-01 00:00:00

  • Relation between ADAMTS13 activity and ADAMTS13 antigen levels in healthy donors and patients with thrombotic microangiopathies (TMA).

    abstract：:We have established a new, enzyme-linked immunosorbent assay (ELISA) for the detection of ADAMTS13 antigen using purified polyclonal rabbit anti-human ADAMTS13 IgG. Normal plasma ADAMTS13 antigen levels span a concentration of 740-1420 ng/ml (median 1080 ng/ml) resulting in an ADAMTS13 activity to antigen ratio of 0.4...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：10.1160/TH05-08-0550

    authors： Rieger M,Ferrari S,Kremer Hovinga JA,Konetschny C,Herzog A,Koller L,Weber A,Remuzzi G,Dockal M,Plaimauer B,Scheiflinger F

    更新日期：2006-02-01 00:00:00

  • Decreased platelet-free dopamine and unchanged noradrenaline and adrenaline in essential hypertension.

    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：

    authors： Kjeldsen SE,Gjesdal K,Leren P,Eide IK

    更新日期：1988-10-31 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

  • A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26.

    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...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： Ido M,Ohiwa M,Hayashi T,Nishioka J,Hatada T,Watanabe Y,Wada H,Shirakawa S,Suzuki K

    更新日期：1993-10-18 00:00:00

  • Clinical trials of direct thrombin inhibitors in acute ischaemic syndromes.

    abstract：:Unfractionated heparin is commonly used as standard therapy along with aspirin for the management of acute ischaemic syndromes. However, heparin has many limitations including a poor dose effect response and an inability to inactivate clot bound thrombin. Direct thrombin inhibitors inactivate clot bound thrombin and a...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章,评审

    doi：

    authors： White HD

    更新日期：1997-07-01 00:00:00

  • Effect of pentosan polysulphate administration in man on the formation of covalent complexes between heparin cofactor II and thrombin generated in plasma by contact activation.

    abstract：:An assay for the quantification of pentosan polysulphate (PPS) in plasma is described. As PPS has been shown to potentiate thrombin inhibition by the second heparin cofactor (HC II), the principle of this assay was to measure the formation of covalent complexes between HC II and the thrombin generated in plasma after ...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： Dol F,Sié P,Dupouy D,Boneu B

    更新日期：1986-12-15 00:00:00

  • Lack of platelet response to collagen associated with an autoantibody against glycoprotein Ia: a novel cause of acquired qualitative platelet dysfunction.

    abstract：:Platelets from a patient with an acquired hemorrhagic disorder had a severely impaired response to collagen, whereas platelet aggregation to other agonists and coagulations tests were normal. No abnormalities of the patient's platelet membrane glycoproteins (GP) were seen. Treatment of the patient with immunosuppressi...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： Deckmyn H,Chew SL,Vermylen J

    更新日期：1990-08-13 00:00:00

  • Oh Heavy Burden: Recognizing the Risk of Venous Thromboembolism in Women Undergoing Assisted Reproduction.

    abstract：: ...

    journal_title：Thrombosis and haemostasis

    pub_type： 社论

    doi：10.1055/s-0038-1676073

    authors： Piazza G

    更新日期：2018-12-01 00:00:00

  • Effect of fixed minidose warfarin, conventional dose warfarin and aspirin on INR and prothrombin fragment 1 + 2 in patients with atrial fibrillation.

    abstract：:The efficacy of conventional dose adjusted oral anticoagulation for stroke prevention in patients with non-valvular atrial fibrillation is well-documented but not considered ideal as primary antithrombotic treatment in elderly patients. The antithrombotic effect of fixed minidose warfarin 1.25 mg/day alone or in combi...

    journal_title：Thrombosis and haemostasis

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：

    authors： Koefoed BG,Feddersen C,Gulløv AL,Petersen P

    更新日期：1997-05-01 00:00:00

  • Expressed isolated integrin beta1 subunit cytodomain induces endothelial cell death secondary to detachment.

    abstract：:Expression of isolated beta integrin cytoplasmic domains in cultured endothelial cells was reported to induce cell detachment and death. To test whether cell death was the cause or the consequence of cell detachment, we expressed isolated integrin beta1 cytoplasmic and transmembrane domains (CH1) in cultured human umb...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： Hasmim M,Vassalli G,Alghisi GC,Bamat J,Ponsonnet L,Bieler G,Bonnard C,Paroz C,Oguey D,Rüegg C

    更新日期：2005-11-01 00:00:00

  • Factor VII Toyama (Thr 359 Met): a homozygous missense mutation causing severe type I deficiency.

    abstract：:We performed a DNA analysis on a patient with severe type I factor VII deficiency by the polymerase chain reaction amplification and a direct DNA sequencing method. The proband was a 66-year-old Japanese woman who had recurrent episodes of excessive bleeding after dental extraction. The functional and antigenic levels...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： Ozawa T,Niiya K,Higuchi W,Sakuragawa N

    更新日期：1997-09-01 00:00:00

  • Increased prevalence of hypertension in haemophilia patients.

    abstract：:An increased prevalence of hypertension is reported in haemophilia patients, but data from large, unbiased studies are lacking. The aim of our study was to cross-sectionally assess the prevalence of hypertension in a large cohort of 701 haemophilia patients. Blood pressure (BP) measurements performed in 386 Dutch and ...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章,多中心研究

    doi：10.1160/TH12-05-0313

    authors： Fransen van de Putte DE,Fischer K,Makris M,Tait RC,Collins PW,Meijer K,Roosendaal G,Chowdary P,Schutgens RE,Mauser-Bunschoten EP

    更新日期：2012-10-01 00:00:00

  • Fibrinogen Matsumoto V: a variant with Aalpha19 Arg-->Gly (AGG-->GGG). Comparison between fibrin polymerization stimulated by thrombin or reptilase and fibrin monomer polymerization.

    abstract：:Fibrinogen Matsumoto V (M-V) is a dysfibrinogen identified in a 52-year-old woman with systemic lupus erythematous. The triplet AGG encoding the amino acid residue Aalpha19 was replaced by GGG, resulting in the substitution of Arg-->Gly. Residue Aalpha19 has been shown to be one of the most important amino acids in th...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： Tanaka H,Terasawa F,Ito T,Tokunaga S,Ishida F,Kitano K,Kiyosawa K,Okumura N

    更新日期：2001-01-01 00:00:00

  • Pharmacogenetic differences between warfarin, acenocoumarol and phenprocoumon.

    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：

    authors： Beinema M,Brouwers JR,Schalekamp T,Wilffert B

    更新日期：2008-12-01 00:00:00

  • Endothelial-specific deficiency of Junctional Adhesion Molecule-C promotes vessel normalisation in proliferative retinopathy.

    abstract：:In proliferative retinopathies, like proliferative diabetic retinopathy and retinopathy of prematurity (ROP), the hypoxia response is sustained by the failure of the retina to revascularise its ischaemic areas. Non-resolving retina ischaemia/hypoxia results in upregulation of pro-angiogenic factors and pathologic neov...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：10.1160/TH15-01-0051

    authors： Economopoulou M,Avramovic N,Klotzsche-von Ameln A,Korovina I,Sprott D,Samus M,Gercken B,Troullinaki M,Grossklaus S,Funk RH,Li X,Imhof BA,Orlova VV,Chavakis T

    更新日期：2015-11-25 00:00:00

  • Changes in haemostatic factors and activation products after exercise in healthy subjects with different ages.

    abstract：:We studied exercise-induced changes in coagulation and fibrinolytic factors and activation products in different age categories. Thirty-eight sedentary males, divided in three age categories (cats I-III; 20-30, 35-45 and 50-60 y) were subjected to a standardized exercise test. Pre-exercise levels (cats I-III resp) of ...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：

    authors： van den Burg PJ,Hospers JE,van Vliet M,Mosterd WL,Bouma BN,Huisveld IA

    更新日期：1995-12-01 00:00:00

  • Patients with essential thrombocythaemia have an increased prevalence of antiphospholipid antibodies which may be associated with thrombosis.

    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：

    authors： Harrison CN,Donohoe S,Carr P,Dave M,Mackie I,Machin SJ

    更新日期：2002-05-01 00:00:00

  • Low-dose warfarin in atrial fibrillation leads to more thromboembolic events without reducing major bleeding when compared to adjusted-dose--a meta-analysis.

    abstract：:The use of warfarin with a range INR of 2.0-3.0 is recommended in prevention of stroke for nonvalvular atrial fibrillation (AF) patients, in particular those older than 75 years. The risk of bleeding that is associated with this range of INR has led to evaluate lower ranges (low-dose or fixed minidose) in terms of ris...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章,meta分析

    doi：10.1160/TH03-08-0541

    authors： Perret-Guillaume C,Wahl DG

    更新日期：2004-02-01 00:00:00

  • Nuclear factor-κB regulates expression of platelet phospholipase C-β2 (PLCB2).

    abstract：:Phospholipase C (PLC)-β2 (gene PLCB2) is a critical regulator of platelet responses upon activation. Mechanisms regulating of PLC-β2 expression in platelets/MKs are unknown. Our studies in a patient with platelet PLC-β2 deficiency revealed the PLCB2 coding sequence to be normal and decreased platelet PLC-β2 mRNA, sugg...

    journal_title：Thrombosis and haemostasis

    pub_type： 杂志文章

    doi：10.1160/TH15-09-0749

    authors： Mao G,Jin J,Kunapuli SP,Rao AK

    更新日期：2016-10-28 00:00:00