Advances in understanding the bleeding diathesis in factor V deficiency

No abstract is available for this paper.

• Publication year

  2009

• Venue

  British Journal of Haematology

• Publication date

  2009-07-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/j.1365-2141.2009.07708.xPMID 19438479
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes.

  2009cited by this paper
• Evaluation of factor V mRNA to define the residual factor V expression levels in severe factor V deficiency

  2008cited by this paper
• Combined FV and FVIII deficiency

  2008cited by this paper
• Factor V deficiency: a concise review

  2008cited by this paper
• A unique function for LRP‐1: a component of a two‐receptor system mediating specific endocytosis of plasma‐derived factor V by megakaryocytes

  2008influential reference
• Quebec platelet disorder: features, pathogenesis and treatment

  2008cited by this paper
• Low plasma levels of tissue factor pathway inhibitor in patients with congenital factor V deficiency.

  2008cited by this paper
• Contribution of natural anticoagulant and fibrinolytic factors in modulating the clinical severity of haemophilia patients

  2007cited by this paper
• Severe factor V deficiency presenting with intracranial haemorrhage during gestation

  2007cited by this paper
• Severe coagulation factor V deficiency associated with an interstitial deletion of chromosome 1q

  2007cited by this paper
• The haemostatic role of tissue factor pathway inhibitor.

  2007cited by this paper
• Molecular characterization of 3 factor V mutations, R2174L, V1813M, and a 5-bp deletion, that cause factor V deficiency

  2007influential reference
• An online database of mutations and polymorphisms in and around the coagulation factor V gene

  2007cited by this paper
• Inherited defects of coagulation factor V: the hemorrhagic side

  2006cited by this paper
• High prevalence of inherited prothrombotic risk factors in 134 consecutive patients with von Willebrand disease

  2006cited by this paper
• Insights into abnormal hemostasis in the Quebec platelet disorder from analyses of clot lysis

  2006cited by this paper
• A case of coagulation factor V deficiency caused by compound heterozygous mutations in the factor V gene

  2006cited by this paper
• Endocytosis of plasma‐derived factor V by megakaryocytes occurs via a clathrin‐dependent, specific membrane binding event

  2005influential reference
• An underestimated combination of opposites resulting in enhanced thrombotic tendency.

  2005cited by this paper
• Pulmonary embolism in a patient with severe congenital deficiency for factor V during treatment with fresh frozen plasma

  2005cited by this paper
• Endocytosis and storage of plasma factor V by human megakaryocytes

  2005cited by this paper
• The use of activated recombinant coagulation factor VII during haemarthroses and synovectomy in a patient with congenital severe factor V deficiency

  2005cited by this paper
• High frequency of premature termination mutations in the factorV gene: Three factorV deficiency case reports and a mutation review

  2005cited by this paper
• Factor‐V expression in platelets from human megakaryocytic culture

  2005cited by this paper
• Megakaryocytes endocytose and subsequently modify human factor V in vivo to form the entire pool of a unique platelet‐derived cofactor

  2005cited by this paper
• Recessively inherited coagulation disorders.

  2004cited by this paper
• Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias

  2004influential reference
• Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

  2004cited by this paper
• Acquired inhibitor of factor V: first report in China and literature review

  2004cited by this paper
• Factor V Leiden: a disorder of factor V anticoagulant function

  2004cited by this paper
• Unique in Vivo Modifications of Coagulation Factor V Produce a Physically and Functionally Distinct Platelet-derived Cofactor

  2004influential reference
• Do prothrombotic factors influence clinical phenotype of severe haemophilia? A review of the literature

  2004cited by this paper
• Factor V inhibitors: rare or not so uncommon? A multi-laboratory investigation

  2004cited by this paper
• Endogenous factor V synthesis in megakaryocytes contributes negligibly to the platelet factor V pool.

  2003cited by this paper
• Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

  2003cited by this paper
• Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized.

  2003influential reference
• Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation.

  2003cited by this paper
• The discovery of factor V: a tricky clotting factor

  2003cited by this paper
• Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: Broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations.

  2003cited by this paper
• Intracellular activation of the fibrinolytic cascade in the Quebec Platelet Disorder

  2003cited by this paper
• Anti‐factor V auto‐antibody in the plasma and platelets of a patient with repeated gastrointestinal bleeding

  2003cited by this paper
• Acquired FV inhibitors: a needless iatrogenic complication of bovine thrombin exposure

  2002cited by this paper
• Factor V and Thrombotic Disease: Description of a Janus-Faced Protein

  2002cited by this paper
• Isolation and characterization of an antifactor V antibody causing activated protein C resistance from a patient with severe thrombotic manifestations.

  2002cited by this paper
• The Thrombogram in Rare Inherited Coagulation Disorders: Its Relation to Clinical Bleeding

  2002cited by this paper
• Identification of a large deletion and three novel mutations in exon 13 of the factor V gene in a Spanish family with normal factor V coagulant and anticoagulant properties

  2002cited by this paper
• Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene.

  2002cited by this paper
• Factor V inhibitor in neonatal intracranial hemorrhage secondary to severe congenital factor V deficiency.

  2001cited by this paper
• Platelet factor V New York: A defect in factor V distinct from that in factor V Quebec resulting in impaired prothrombinase generation

  2001cited by this paper
• A missense mutation (Y1702C) in the coagulation factor V gene is a frequent cause of factor V deficiency in the Italian population.

  2001cited by this paper
• Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.

  2001cited by this paper
• Platelets from patients with the Quebec platelet disorder contain and secrete abnormal amounts of urokinase-type plasminogen activator.

  2001cited by this paper
• Severe factor V deficiency and neonatal intracranial haemorrhage: a case report

  2000cited by this paper
• How Much Factor V Is Enough?

  2000cited by this paper
• Rescue of Fatal Neonatal Hemorrhage in Factor V Deficient Mice by Low Level Transgene Expression

  2000cited by this paper
• Intracranial haemorrhage due to factor V deficiency

  1999cited by this paper
• Cleavage of factor V at Arg 506 by activated protein C and the expression of anticoagulant activity of factor V.

  1999influential reference
• Inhibitory anti-factor V antibodies bind to the factor V C2 domain and are associated with hemorrhagic manifestations.

  1998cited by this paper
• Platelet-derived factor Va/Va Leiden cofactor activities are sustained on the surface of activated platelets despite the presence of activated protein C.

  1998cited by this paper
• Symptoms of inherited factor V deficiency in 35 Iranian patients

  1998influential reference
• The C-terminal Region of the Factor V B-domain Is Crucial for the Anticoagulant Activity of Factor V*

  1998cited by this paper
• Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII.

  1998cited by this paper
• Severe coagulation factor V deficiency caused by a 4 bp deletion in the factor V gene

  1998cited by this paper
• Secretable human platelet-derived factor V originates from the plasma pool.

  1998cited by this paper
• Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome.

  1997cited by this paper
• Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor V

  1996cited by this paper
• “Pseudo Homozygous” Activated Protein C Resistance due to Double Heterozygous Factor V Defects (Factor V Leiden Mutation and Type I Quantitative Factor V Defect) Associated with Thrombosis: Report of Two Cases Belonging to Two Unrelated Kindreds

  1996cited by this paper
• An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect.

  1996cited by this paper
• Factor V Quebec revisited.

  1996cited by this paper
• Factor V Is Complexed with Multimerin in Resting Platelet Lysates and Colocalizes with Multimerin in Platelet α-Granules (*)

  1995cited by this paper
• Factor V turnover in a primate model.

  1995cited by this paper
• Effects of Protein S and Factor Xa on Peptide Bond Cleavages during Inactivation of Factor Va and Factor VaR506Q by Activated Protein C (*)

  1995cited by this paper
• The Mechanism of Inactivation of Human Platelet Factor Va from Normal and Activated Protein C-resistant Individuals (*)

  1995influential reference
• Peptide Bond Cleavages and Loss of Functional Activity during Inactivation of Factor Va and Factor VaR506Q by Activated Protein C (*)

  1995cited by this paper
• Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity.

  1995cited by this paper
• Mutation in blood coagulation factor V associated with resistance to activated protein C

  1994cited by this paper
• The mechanism of inactivation of human factor V and human factor Va by activated protein C.

  1994cited by this paper
• Inherited resistance to activated protein C is corrected by anticoagulant cofactor activity found to be a property of factor V.

  1994cited by this paper
• Structure of the gene for human coagulation factor V.

  1992cited by this paper
• Activation of human factor V by factor Xa and thrombin.

  1990cited by this paper
• Functional characterization of human platelet-released factor V and its activation by factor Xa and thrombin.

  1990influential reference
• Thromboembolic manifestations and congenital factor V deficiency: a family study.

  1989cited by this paper
• Localization of the gene encoding human factor V to chromosome 1q21-25.

  1988cited by this paper
• Complete cDNA and derived amino acid sequence of human factor V.

  1987cited by this paper
• Isolation and study of an acquired inhibitor of human coagulation factor V.

  1986influential reference
• Biology of human megakaryocyte factor V.

  1986cited by this paper
• Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiency.

  1984influential reference
• Radioimmunoassay of factor V in human plasma and platelets.

  1982cited by this paper
• The role of phospholipids and factor Va in the prothrombinase complex.

  1980cited by this paper
• Patients with congenital factor V deficiency have decreased factor Xa binding sites on their platelets.

  1978cited by this paper
• Recurrent thrombophlebitis and pulmonary emboli in congenital factor 5 deficiency.

  1976cited by this paper
• Parahaemophilia; haemorrhagic diathesis due to absence of a previously unknown clotting factor.

  1947cited by this paper

• Autoimmune Acquired Factor V Deficiency in a Patient With Pancreatic Cancer Complicated by Cholangitis: A Rare Coagulopathy With a Favorable Course

  2025cites this paper
• A Case of Acquired Factor V Deficiency in a Hemodialysis Patient: A Case Report With Literature Review

  2025cites this paper
• Evaluation of the anticoagulant activity and safety of PMPC-PSSS and PMPC-PVBTAC block copolymers.

  2025cites this paper
• A child with factor V deficiency with a novel F5 gene mutation misdiagnosed as a left iliac fossa abscess: A case report

  2024cites this paper
• Severe coagulation disorder occurring after broad-spectrum antibiotic therapy in a patient with longstanding infection

  2024cites this paper
• Correlation between Phenotype and Coagulation Factor Activity Level in Rare Bleeding Disorders: A Systematic Review

  2024cites this paper
• Factor V haemostatic diathesis impairing thrombin activation, membrane binding and circulating antigen level due to a novel compound heterozygous mutation, Leu1821Ser and Gly2192Cys

  2024cites this paper
• ANALYSIS OF THE RELATIONSHIP OF ITGB3, FV, AND FII GENE POLYMORPHISM WITH THE DEVELOPMENT OF DIABETIC FOOT SYNDROME

  2023cites this paper
• 获得性凝血因子缺乏症的发病机制、诊断与治疗

  2023cites this paper
• Common pathway coagulopathy and hemorrhagic edema of infancy

  2023cites this paper
• Bleeding and thrombosis in cirrhosis.

  2022cites this paper
• Treatment of patients with rare bleeding disorders in the Netherlands: Real‐life data from the RBiN study

  2022cites this paper
• Recurrent bleeding after posthemorrhoidectomy caused by factor V deficiency: a case report and review of the literature

  2021cites this paper
• A Review of Coagulation Abnormalities of Autoimmune Acquired Factor V Deficiency with a Focus on Japan

  2021cites this paper
• Cell therapy for factor V deficiency: An approach based on human decidua mesenchymal stem cells.

  2021cites this paper
• Acquired Factor V Inhibitor Complicated with Immune Thrombocytopenia

  2021cites this paper
• F5‐Atlanta: A novel mutation in F5 associated with enhanced East Texas splicing and FV‐short production

  2021cites this paper
• Acquired Factor V Inhibitor: success of steroids in a patient with primary sclerosing cholangitis, ulcero haemorrhagic rectocolitis, biological Biermer's disease.

  2021cites this paper
• A novel mutation (Ser951LeufsTer8) in F5 gene leads to hereditary coagulation factor V deficiency.

  2021cites this paper
• Congenital Severe Factor V Deficiency: Two Cases with Different Clinical Presentations

  2020cites this paper
• First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations.

  2019cites this paper
• A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient.

  2019cites this paper
• Underlying Genes Involved in Atherosclerotic Macrophages: Insights from Microarray Data Mining

  2019cites this paper
• CONGENITAL FACTOR V DEFICIENCY: CASE REPORTS

  2019cites this paper
• Factor V Deficiency with a Thrombotic Clinical Phenotype

  2019cites this paper
• Edinburgh Research Explorer Thrombin Exosite 1 Inhibition with JNJ-64179375 Inhibits Thrombus Formation in a Human Translational Model of Thrombosis

  2018cites this paper
• Congenital Factor VII Deficiency

  2018cites this paper
• APC Resistance

  2018cites this paper
• “In vitro” correction of the severe factor V deficiency‐related coagulopathy by a novel plasma‐derived factor V concentrate

  2018cites this paper
• Exosite 1 thrombin inhibition with JNJ-64179375 inhibits thrombus formation in a human translational model of thrombosis

  2018cites this paper
• Thromboelastometry profiles after “in vitro” addition of a new plasma‐derived factor V concentrate to whole blood from parahaemophilia patients

  2018cites this paper
• Intravenous immunoglobulin in patients with acquired Von Willebrand syndrome: A single referral centre experience

  2018cites this paper
• Elevated PT, APPT and PT/INR possibly associated with doxycycline and cefoperazone co‐administration: A case report

  2018cites this paper
• Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia

  2017cites this paper
• Search Methods We reviewed the medical literature for published studies on alloantibodies in patients with inherited bleeding disorders other than hemophilia

  2017cites this paper
• Phenotype Report on Patients with Congenital Factor V Deficiency in Southern Iran: Recent Ten Years’ Experience

  2017influential citation
• Novel insights into the regulation of coagulation by factor V isoforms, tissue factor pathway inhibitorα, and protein S

  2017cites this paper
• Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study

  2017cites this paper
• Persistant Hemothorax after Video-Assisted Thoracoscopic Surgery Secondary to Factor V Deficiency

  2017influential citation
• Identification and functional characterization of a novel F5 mutation (Ala512Val, FVBonn) associated with activated protein C resistance

  2016cites this paper
• Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome

  2016influential citation
• Laparoscopic surgery in a woman with factor V deficiency: revisiting platelet factor V

  2016cites this paper
• Severe Factor V Deficiency and Thrombin Generation: Case Report in a Woman with a Complication of Uterine Curettage

  2016influential citation
• Hip Replacement Surgery in 14-Year-Old Girl with Factor V Deficiency: Haemostatic Treatment and Thromboprophylaxis

  2016cites this paper
• Efficacy of solvent/detergent plasma after storage at 2-8 °C for 5 days in comparison to other plasma products to improve factor V levels in factor V deficient plasma.

  2016cites this paper
• Endocytosis of exogenous factor V by ex‐vivo differentiated megakaryocytes from patients with severe parahaemophilia

  2016cites this paper
• Factor concentrates for rare congenital coagulation disorders: where are we now?

  2016cites this paper
• Sodium content in products used to treat haemophilia

  2016cites this paper
• Platelets and platelet-derived factor Va confer hemostatic competence in complete factor V deficiency.

  2015cites this paper
• Identification of a novel large deletion in a patient with severe factor V deficiency using an in‐house F5 MLPA assay

  2015cites this paper
• Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency

  2015cites this paper
• Acquired factor V deficiency in myeloproliferative neoplasms: a Mayo Clinic series of 33 patients

  2015cites this paper
• Deficiencia congénita del factor V Congenital deficiency of factor V

  2014cites this paper
• The role of arthropathy in the development of osteoporosis in patients with haemophilia: do we need more?

  2014cites this paper
• Acquired factor V deficiency in a patient without evidence of a classical inhibitor

  2014cites this paper
• The Autotransporter Protease EspP: Crystal Structure of the Passenger Domain and Relation to Clot Formation and Stability in Human Blood

  2014cites this paper
• Angeborene Gerinnungsstörungen in der Pädiatrie

  2014cites this paper
• Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation

  2013cites this paper
• Management of surgical procedures in children with severe FV deficiency: experience of 13 surgeries

  2013cites this paper
• Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation.

  2013cites this paper
• Peripartum anesthetic management of a parturient with inherited factor v deficiency.

  2013cites this paper
• Parahemophilia: New Insights into Factor V Deficiency

  2013cites this paper
• Identification of the Regions in Factor V Mediating its Edocytosis by Megakaryocytes to Form the Unique Platelet-Derived Cofactor Molecule

  2013cites this paper
• Congenital Factor V Deficiency: Moroccans Cases

  2013cites this paper
• A case of factor V deficiency which was found by chance at pre-operative laboratory test

  2012cites this paper
• A Bipartite Autoinhibitory Region within the B-domain Suppresses Function in Factor V*

  2012cites this paper
• Trends in anti‐D immune globulin for childhood immune thrombocytopenia: Usage, response rates, and adverse effects

  2012cites this paper
• Continuous thrombin infusion leads to a bleeding phenotype in sheep.

  2012cites this paper
• A case of factor V inhibitor with complete correction of the PT and aPTT upon mixing

  2012cites this paper
• Deep vein thrombosis associated with factor V inhibitor followed by immune thrombocytopenia

  2012cites this paper
• Severe factor V deficiency in two brothers with different clinical presentations

  2012cites this paper
• [Acquired factor V deficiency: a rare bleeding disorder with variable clinical presentations].

  2011cites this paper
• Anticoagulant acquis anti-facteur V : à propos d’un cas et revue de la littérature

  2011cites this paper
• Factor V Leiden as risk factor for pregnancy complications : Epidemiological study of Finnish women

  2011cites this paper
• Modulators of bleeding tendency in severe factor V deficiency

  2011cites this paper
• Homozygous F5 deep‐intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet‐rich plasma

  2011cites this paper
• Inherited and acquired factor V deficiency

  2011cites this paper
• Successful mitral valve repair in a patient with factor V deficiency

  2011cites this paper
• A new look at blood coagulation factor V

  2011cites this paper
• Prothrombin activation on the activated platelet surface optimizes expression of procoagulant activity.

  2011cites this paper
• [Factor V inhibitor: case report and literature review].

  2011cites this paper
• A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V

  2010cites this paper
• Development of Cephradine-Induced Acquired Factor V Inhibitors: A Case Report

  2010cites this paper
• Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms.

  2010cites this paper
• Blood coagulation factors V and VIII: Molecular Mechanisms of Procofactor Activation.

  2010cites this paper
• The Anticoagulant Effect of Protamine Sulfate Is Attenuated in the Presence of Platelets or Elevated Factor VIII Concentrations

  2010cites this paper
• International Medical Case Reports Journal Dovepress Anti-factor V Inhibitor in Patients with Autoimmune Diseases: Case Report and Literature Review

  year unknowncites this paper
• International Medical Case Reports Journal Dovepress Acquired Factor V Inhibitor in a Patient with Mantle Cell Lymphoma Presenting with Hematuria Followed by Thrombosis: a Case Report

  year unknowncites this paper