factor V

Summary

Gene Symbol: factor V
Description: coagulation factor V
Alias: FVL, PCCF, RPRGL1, THPH2, coagulation factor V, activated protein c cofactor, coagulation factor V (proaccelerin, labile factor), coagulation factor V jinjiang A2 domain, factor V Leiden
Species: human

Top Publications

  1. ncbi A polymorphism in the human coagulation factor V gene
    T A Bayston
    Haematology Department, Charing Cross and Westminster Medical School, Hammersmith, London, UK
    Hum Mol Genet 3:2085. 1994
  2. ncbi Evidence for an association of the R485K polymorphism in the coagulation factor V gene with severe preeclampsia from screening 35 polymorphisms in 27 candidate genes
    H Watanabe
    Thromb Haemost 86:1594-5. 2001
  3. ncbi Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study
    O Wu
    Division of Developmental Medicine, University of Glasgow, UK
    Health Technol Assess 10:1-110. 2006
  4. ncbi Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease
    Wassim Y Almawi
    Department of Medicine, Arabian Gulf University, Manama, Bahrain
    J Thromb Thrombolysis 17:199-205. 2004
  5. pmc Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy
    N A Limdi
    Department of Neurology, University of Alabama at Birmingham, 1719 6th Avenue South, CIRC 312, 35294 0021, USA
    Blood Cells Mol Dis 37:100-6. 2006
  6. ncbi Low-density lipoprotein receptor-related protein 1 polymorphism 663 C > T affects clotting factor VIII activity and increases the risk of venous thromboembolism
    R Vormittag
    Division of Haematology and Haemostaseology, Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria
    J Thromb Haemost 5:497-502. 2007
  7. ncbi The role of plasminogen activator inhibitor-1 polymorphism, factor-V-Leiden, and prothrombin-20210 mutations in pulmonary thromboembolism
    I Kivilcim Oguzulgen
    Department of Pulmonary Medicine, Gazi University School of Medicine, Ankara, Turkey
    Clin Appl Thromb Hemost 15:73-7. 2009
  8. ncbi Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation
    Samira B Jeimy
    Department of Pathology and Molecular Medicine, Health Sciences Center, McMaster University, 1200 Main St West, Hamilton, Ontario, Canada, L8N 3Z5
    Thromb Haemost 100:1058-67. 2008
  9. ncbi Prothrombinase complex assembly. Contributions of protein-protein and protein-membrane interactions toward complex formation
    S Krishnaswamy
    Department of Biochemistry, University of Vermont, Burlington 05405
    J Biol Chem 265:3708-18. 1990
  10. ncbi Thrombin-catalyzed activation of human coagulation factor V
    K Suzuki
    J Biol Chem 257:6556-64. 1982

Research Grants

  1. Immuno Biosensor for Real-Time Factor V Leiden Diagnosis
    KYUNG KANG; Fiscal Year: 2005
  2. Decidual-Endothelial Tissue Factor and IUGR
    Charles Lockwood; Fiscal Year: 2006
  3. MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISM
    Bruce Psaty; Fiscal Year: 2001
  4. Determinants of Venous Thromboembolism in Older People
    Robert J Glynn; Fiscal Year: 2010
  5. Kent R Bailey; Fiscal Year: 2016
  6. Jun Li; Fiscal Year: 2015
  7. MOLECULAR BIOLOGY OF HUMAN COAGULATION FACTOR V
    Thomas Ortel; Fiscal Year: 2010
  8. STRUCTURE AND FUNCTION OF HEPARIN COFACTOR II
    Douglas M Tollefsen; Fiscal Year: 2010
  9. NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS
    Edwin Naylor; Fiscal Year: 2002
  10. Genetic Risk Factors for CVA in Children with Hb SS
    Abdullah Kutlar; Fiscal Year: 2004

Detail Information

Publications245 found, 100 shown here

  1. ncbi A polymorphism in the human coagulation factor V gene
    T A Bayston
    Haematology Department, Charing Cross and Westminster Medical School, Hammersmith, London, UK
    Hum Mol Genet 3:2085. 1994
  2. ncbi Evidence for an association of the R485K polymorphism in the coagulation factor V gene with severe preeclampsia from screening 35 polymorphisms in 27 candidate genes
    H Watanabe
    Thromb Haemost 86:1594-5. 2001
  3. ncbi Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study
    O Wu
    Division of Developmental Medicine, University of Glasgow, UK
    Health Technol Assess 10:1-110. 2006
    ..To evaluate the relative cost-effectiveness of universal and selective VTE history-based screening for thrombophilia compared with no screening in the three high-risk patient groups...
  4. ncbi Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease
    Wassim Y Almawi
    Department of Medicine, Arabian Gulf University, Manama, Bahrain
    J Thromb Thrombolysis 17:199-205. 2004
    Single point mutations in the genes coding for factor V [G1691A; Leiden], prothrombin [PRT; G20210A], and methylenetetrahydrofolate reductase [MTHFR, C677T] were shown to be major inherited predisposing factors for venous thromboembolism...
  5. pmc Racial differences in the prevalence of Factor V Leiden mutation among patients on chronic warfarin therapy
    N A Limdi
    Department of Neurology, University of Alabama at Birmingham, 1719 6th Avenue South, CIRC 312, 35294 0021, USA
    Blood Cells Mol Dis 37:100-6. 2006
    We report the prevalence of Factor V Leiden (FVL) in European American and African American patients on warfarin therapy residing in Alabama. METHODS...
  6. ncbi Low-density lipoprotein receptor-related protein 1 polymorphism 663 C > T affects clotting factor VIII activity and increases the risk of venous thromboembolism
    R Vormittag
    Division of Haematology and Haemostaseology, Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria
    J Thromb Haemost 5:497-502. 2007
    ..A multifunctional endocytic receptor, low-density lipoprotein receptor-related protein 1 (LRP1), mediates cellular uptake and subsequent degradation of FVIII and may contribute to variations in FVIII levels...
  7. ncbi The role of plasminogen activator inhibitor-1 polymorphism, factor-V-Leiden, and prothrombin-20210 mutations in pulmonary thromboembolism
    I Kivilcim Oguzulgen
    Department of Pulmonary Medicine, Gazi University School of Medicine, Ankara, Turkey
    Clin Appl Thromb Hemost 15:73-7. 2009
    ..As a result, plasminogen activator inhibitor-1 gene polymorphism or its concomitant presence with mentioned mutations was not found to be associated with increased risk for pulmonary thromboembolism or recurrent disease in this study...
  8. ncbi Multimerin 1 binds factor V and activated factor V with high affinity and inhibits thrombin generation
    Samira B Jeimy
    Department of Pathology and Molecular Medicine, Health Sciences Center, McMaster University, 1200 Main St West, Hamilton, Ontario, Canada, L8N 3Z5
    Thromb Haemost 100:1058-67. 2008
    Multimerin 1 (MMRN1) is a polymeric, factor V (FV) binding protein that is stored in platelet and endothelial cell secretion granules but is undetectable in normal plasma...
  9. ncbi Prothrombinase complex assembly. Contributions of protein-protein and protein-membrane interactions toward complex formation
    S Krishnaswamy
    Department of Biochemistry, University of Vermont, Burlington 05405
    J Biol Chem 265:3708-18. 1990
    ..Linkage between the two protein-membrane combination events leads to the further stabilization of the complex on the vesicle surface...
  10. ncbi Thrombin-catalyzed activation of human coagulation factor V
    K Suzuki
    J Biol Chem 257:6556-64. 1982
    Human coagulation factor V was purified from freshly frozen plasma by a method that gave high yields of single chain factor V...
  11. ncbi Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity
    D D Pittman
    Department of Molecular and Cellular Genetics, Genetics Institute, Cambridge, Massachusetts 02140
    Biochemistry 33:6952-9. 1994
    Factor VIII and factor V function as cofactors in the blood coagulation cascade to accelerate the rate of activation of factor X and prothrombin, respectively...
  12. ncbi Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma
    B Lunghi
    Dip di Biochimica e Biologia Molecolare, Universita di Ferrara, Italy
    Thromb Haemost 75:45-8. 1996
    Three novel polymorphisms were found in the repeated region of the large exon 13 of factor V gene, one giving rise to a codon dimorphism (Ser1240) and two causing aminoacid substitutions (His1299Arg, Leu1257Ile)...
  13. ncbi Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage
    R Rai
    Department of Reproductive Science and Medicine, Imperial College School of Medicine at St Mary s, London, UK
    Hum Reprod 16:961-5. 2001
    Activated protein C (APC) resistance, both in its congenital form, due to the factor V Leiden mutation, and in its acquired form, are important risk factors for systemic venous thrombosis...
  14. ncbi Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester
    R Pihusch
    Department of Haematology and Oncology, Klinikum der Universität München Gosshadern, Munich, Germany
    Am J Reprod Immunol 46:124-31. 2001
    ..Thrombophilic predisposition may be one of the underlying causes of recurrent spontaneous abortions (RSA). We studied the prevalence of five thrombophilic gene mutations in patients with RSA...
  15. ncbi Pregnancy-associated risk for venous thromboembolism and pregnancy outcome in women homozygous for factor V Leiden
    I Pabinger
    I Department of Internal Medicine, Division of Hematology Blood Coagulation, University Hospital, Vienna, Austria
    Hematol J 1:37-41. 2000
    ..and the risk of stillbirth and miscarriage a multicenter, retrospective and controlled study was conducted in women carrying the homozygous factor V Leiden mutation and in an agematched control group of women from the normal population.
  16. ncbi Prevalence of factor V G1691A (factor V-Leiden) and prothrombin G20210A gene mutations in a recurrent miscarriage population
    Ramzi R Finan
    Department of Obstetrics and Gynecology, St Georges Orthodox Hospital, Beirut, Lebanon
    Am J Hematol 71:300-5. 2002
    b>Factor V G1691A (FV-Leiden) and prothrombin G20210A mutations are major inherited risk factors for venous thrombosis...
  17. ncbi Factor V Leiden mutation and PAI-1 gene 4G/5G genotype in thrombotic patients with Behcet's disease
    Aytemiz Gurgey
    Department of Pediatric Hematology, Hacettepe University Medical School, Ankara, Turkey
    Blood Coagul Fibrinolysis 14:121-4. 2003
    ..The present study was designed to analyse the role of the factor V Leiden and the prothrombin G20210A mutations and plasminogen activator inhibitor-1 4G/5G polymorphism on the ..
  18. ncbi Role of factor V Leiden and prothrombin 20210A in patients with retinal artery occlusion
    M Weger
    Department of Ophthalmology Karl Franzens University Graz, Austria
    Eye (Lond) 17:731-4. 2003
    ..Numerous studies have shown that two genetic variants, factor V Leiden and prothrombin 20210A, cause a procoagulant state...
  19. ncbi A systematic review of the association between factor V Leiden or prothrombin gene variant and intrauterine growth restriction
    Heather E A Howley
    University of Ottawa, Ottawa, Ontario, Canada
    Am J Obstet Gynecol 192:694-708. 2005
    The purpose of this study was to conduct a systematic review of the literature of studies that examined the association between factor V Leiden and/or prothrombin gene variant and intrauterine growth restriction.
  20. ncbi Incorporation of factor Va into prothrombinase is required for coordinated cleavage of prothrombin by factor Xa
    Michael A Bukys
    Department of Chemistry, Cleveland State University, Cleveland, Ohio 44115, USA
    J Biol Chem 280:27393-401. 2005
    ..These data indicate that the interaction of factor Xa with the heavy chain of factor Va strongly influences the catalytic activity of the enzyme resulting in increased rates for both prothrombin-activating cleavages...
  21. ncbi CYP2C9 and VKORC1 genetic polymorphism analysis might be necessary in patients with Factor V Leiden and prothrombin gene G2021A mutation(s)
    Allen Leung
    Molecular Pathology Laboratory, Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA
    Diagn Mol Pathol 16:184-6. 2007
    ..b>Factor V Leiden gene (most common) and the prothrombin G20210A gene mutation are inherited mild to moderate risk factors for ..
  22. ncbi The interaction of fragment 1 of prothrombin with the membrane surface is a prerequisite for optimum expression of factor Va cofactor activity within prothrombinase
    Michael A Bukys
    Cleveland State University, Department of Chemistry, OH 44115, USA
    Thromb Haemost 99:511-22. 2008
    ..Altogether, the data demonstrate that membrane-bound fragment 1 is required to promote optimum Fva cofactor activity which in turn is translated by efficient initial cleavage of prothrombin by prothrombinase at Arg(320)...
  23. ncbi Carriership of Factor V Leiden and evolutionary selection advantage
    Pelle G Lindqvist
    Clinical Sciences, Malmo, Obstetrics and Gynecology, Sweden
    Curr Med Chem 15:1541-4. 2008
    ..A single mutation of coagulation factor V, known as FV Leiden (FVL), can be such a beneficial mutation...
  24. ncbi A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism
    S Middeldorp
    Department of Vascular Medicine, Academic Medical Center F4 277, 1100 DE Amsterdam, The Netherlands
    Ann Intern Med 135:322-7. 2001
    The factor V Leiden mutation is a common genetic defect associated with an increased risk for venous thromboembolism...
  25. ncbi Factor V Leiden and G20210A prothrombin mutations are risk factors for very early recurrent miscarriage
    M F Reznikoff-Etiévan
    Department of Obstetrics and Gynaecology, Saint Antoine Hospital, Paris, France
    BJOG 108:1251-4. 2001
    To determine whether there is an association between early recurrent miscarriage (before 10 weeks of pregnancy) and Factor V Leiden and G20210A prothrombin mutations.
  26. ncbi Activated protein C resistance in the absence of factor V Leiden mutation is a common finding in multiple myeloma and is associated with an increased risk of thrombotic complications
    M Zangari
    Central Arkansas Veteran s Healthcare System, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA
    Blood Coagul Fibrinolysis 13:187-92. 2002
    ..patients (23%) were found to have a baseline-reduced response to activated protein C (APC) in the absence of factor V Leiden mutation...
  27. ncbi Frequency of factor V, prothrombin and methylenetetrahydrofolate reductase gene variants in preeclampsia
    Angela V D'Elia
    Department of Biomedical Science and Technology, University of Udine, Udine, Italy
    Gynecol Obstet Invest 53:84-7. 2002
    The association between thrombophilic variants (Leiden mutation of the factor V gene, G20210A mutation of the prothrombin gene and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene) with preeclampsia was ..
  28. ncbi Prevalence of genetic markers for thrombophilia in recurrent pregnancy loss
    Howard Carp
    Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel
    Hum Reprod 17:1633-7. 2002
    The genetic predispositions to venous thrombosis such as factor V Leiden (FVL) mutation (Arg 506 Gln), prothrombin (FII) gene mutation (G20210A), and mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) have been ..
  29. ncbi Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population
    Yanhui Lu
    Division of Cardio Pulmonary Circulation, Cardiovascular Institute and Fu Wai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, 100037, Beijing, People s Republic of China
    Thromb Res 106:7-12. 2002
    A mutation in coagulant factor V gene, a substitution in the 3' untranslated region of prothrombin gene, and a variant in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene have been reported to be related to venous thromboembolism in ..
  30. ncbi Factor V Leiden, prothrombin gene mutation, and thrombosis risk in patients with antiphospholipid antibodies
    Nikhil Chopra
    Division of Rheumatology, Dalhousie University, Halifax, Nova Scotia, Canada
    J Rheumatol 29:1683-8. 2002
    To determine if the prevalence of 2 prothrombotic genetic factors, factor V Leiden and prothrombin gene mutation, is increased in patients with antiphospholipid (aPL) antibodies with a history of venous/arterial thrombosis compared to ..
  31. ncbi Resistance to activated protein C, factor V leiden and the prothrombin G20210A variant in patients with colorectal cancer
    Gregorios A Paspatis
    Department of Gastroenterology, Benizelion General Hospital, Heraklion, Greece
    Pathophysiol Haemost Thromb 32:2-7. 2002
    The aim of our study was to determine the frequency of resistance to activated protein C (APC), factor V Leiden (FVL) and the prothrombin G20210A variant in patients with colorectal cancer.
  32. ncbi Factor V Leiden protects against blood loss and transfusion after cardiac surgery
    Brian S Donahue
    Department of Anesthesiology, Vanderbilt University School of Medicine, Nashville, Tenn 37232, USA
    Circulation 107:1003-8. 2003
    ..Because blood conservation is a pressing issue in cardiac surgery, we tested the hypothesis that factor V Leiden (FVL), a common coagulation factor polymorphism, may protect against blood loss and transfusion in patients ..
  33. ncbi Amino acids Glu323, Tyr324, Glu330, and Val331 of factor Va heavy chain are essential for expression of cofactor activity
    Lisam S Singh
    Department of Chemistry, Cleveland State University, Cleveland, Ohio 44115, USA
    J Biol Chem 278:28335-45. 2003
    ..Our data demonstrate that amino acid residues Glu323, Tyr324, Glu330, and Val331 of factor Va heavy chain are critical for expression of factor Va cofactor activity...
  34. ncbi Structural requirements for expression of factor Va activity
    Michael Kalafatis
    Department of Chemistry, Cleveland State University, and The Lerner Research Institute, The Cleveland Clinic Foundation, Ohio, USA
    J Biol Chem 278:33550-61. 2003
    ..5 nM. A protease (NN) purified from the venom of the snake Naja nigricollis nigricollis, cleaves human factor V at Asp697, Asp1509, and Asp1514 to produce a molecule (factor VNN) that is composed of a Mr 100,000 heavy chain (..
  35. ncbi Susceptibility to pre-eclampsia in Finnish women is associated with R485K polymorphism in the factor V gene, not with Leiden mutation
    Fareeza Faisel
    Department of Obstetrics and Gynecology, Kuopio University Hospital, Kuopio, Finland
    Eur J Hum Genet 12:187-91. 2004
    This study determines whether genetic variability in the gene-encoding factor V contributes to differences in pre-eclampsia susceptibility...
  36. ncbi Effect of factor V Leiden polymorphism in severe sepsis and on treatment with recombinant human activated protein C
    S Betty Yan
    Lilly Research Laboratories, Indianapolis, IN, USA
    Crit Care Med 32:S239-46. 2004
    ..Activated protein C limits excessive coagulation activation by inactivating factors Va and VIIIa. The factor V Leiden mutation (R506Q), a prothrombotic gene polymorphism, disrupts the activity of this natural anticoagulant by ..
  37. ncbi Functional properties of recombinant factor V mutated in a potential calcium-binding site
    Kristoffer W Sørensen
    Department of Clinical Chemistry, Lund University, Malmo University Hospital, Malmo, Sweden
    Biochemistry 43:5803-10. 2004
    Activated coagulation factor V (FVa) is a cofactor of activated factor X (FXa) in prothrombin activation. FVa is composed of a light chain (LC) and a heavy chain (HC) that are noncovalently associated in a calcium-dependent manner...
  38. ncbi Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls
    Juan P Casas
    Centre for Clinical Pharmacology, British Heart Foundation Laboratories at University College London, London, England
    Arch Neurol 61:1652-61. 2004
    ..Statistically significant associations with ischemic stroke were identified for factor V Leiden Arg506Gln (OR, 1.33; 95% CI, 1.12-1.58), methylenetetrahydrofolate reductase C677T (OR, 1.24; 95% CI, 1.08-1...
  39. ncbi Renin-angiotensin system and haemostasis gene polymorphisms and outcome after coronary artery bypass graft surgery
    Henry Volzke
    Department of Epidemiology and Social Medicine, Ernst Moritz Arndt University, Walther Rathenau Str 48, D 17487 Greifswald, Germany
    Int J Cardiol 98:133-9. 2005
    ..system (angiotensinogen 235 M/T, angiotensin II type 1 receptor 1166 A/C) or the clotting system (glycoprotein IIIa PlA1/PlA2 and factor V Leiden 1691 G/A) are associated with the outcome after coronary artery bypass grafting.
  40. ncbi [Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium]
    Valentina Dordević
    Institut za molekularnu genetiku i geneticko inzenjerstvo, Beograd, Klinicki centar Srbije
    Vojnosanit Pregl 62:201-5. 2005
    ..The incidence of pregnancy-associated venous thrombosis varies from 1 in 1000 to 1 in 2000 deliveries. Factor V G1691A (FV Leiden), FII G20210A and MTHFR C677T mutations are the most common genetic risk factors for ..
  41. ncbi Are factor V and prothrombin mutations associated with increased risk of oral cancer?
    Eleftherios Vairaktaris
    Department of Maxillofacial Surgery, University of Athens Medical School, Vas Sofias 93 and Dim Soutsou 1, Athens, Greece
    Anticancer Res 25:2561-5. 2005
    ..Methylenetetrahydrofolate reductase is associated with pathogenesis of both thrombosis and oral cancer. Therefore, a search for a similar association of other thrombosis-related factors with oral cancer is justified...
  42. ncbi Influence of the factor V Leiden mutation on infectious disease susceptibility and outcome: a population-based study
    Thomas L Benfield
    Department of Infectious Diseases, Copenhagen University Hospital, Denmark
    J Infect Dis 192:1851-7. 2005
    The effect of the coagulation factor V Leiden mutation on infectious disease susceptibility and outcome is controversial.
  43. pmc Involvement of serum retinoids and Leiden mutation in patients with esophageal, gastric, liver, pancreatic, and colorectal cancers in Hungary
    Gyula Mozsik
    First Department of Medicine, Medical and Health Centre, University of Pecs, Hungary
    World J Gastroenterol 11:7646-50. 2005
    ..To analyze the serum levels of retinoids and Leiden mutation in patients with esophageal, gastric, liver, pancreatic, and colorectal cancers...
  44. ncbi The relationship between thrombophilic mutations and preeclampsia: a prospective case-control study
    Ahmet Yalinkaya
    Dicle University School of Medicine, Department of Obstetrics and Gynecology, Diyarbakir, Turkey
    Ann Saudi Med 26:105-9. 2006
    ..The aim of this study was to determine the relationship between thrombophilia and preeclamptic patients in our region...
  45. pmc Prevalence of factor V Leiden and prothrombin G20210A in patients with gastric cancer
    Sandra Battistelli
    Dipartimento di Chirurgia e Specialità Chirurgiche, Policlinico Le Scotte, Viale Bracci, 53100 Siena, Italy
    World J Gastroenterol 12:4179-80. 2006
    To analyze the prevalence of the two commonest thrombophilic mutations, factor V Leiden and prothrombin G20210A, in patients with gastric cancer.
  46. ncbi Characterization of a factor Xa binding site on factor Va near the Arg-506 activated protein C cleavage site
    Andrew J Gale
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    J Biol Chem 282:21848-55. 2007
    ....
  47. ncbi Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR
    Feroza Dawood
    Department of Reproductive and Developmental Health, Liverpool Women s Hospital, University of Liverpool, Crown Street, Liverpool L8 7SS, UK
    Hum Reprod 22:2546-53. 2007
    ..The factor V Leiden mutation located on the B domain of the factor V gene, causes 95% of APCR and since the B domain is pivotal ..
  48. ncbi Coagulation factor V and thrombophilia: background and mechanisms
    Kenneth Segers
    Department of Biochemistry, Cardiovascular Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands
    Thromb Haemost 98:530-42. 2007
    Human coagulation factor V (FV) is an essential coagulation protein with functions in both the pro- and anticoagulant pathways. Failure to express and control FV functions can either lead to bleeding, or to thromboembolic disease...
  49. ncbi Risk of venous thrombosis: obesity and its joint effect with oral contraceptive use and prothrombotic mutations
    Elisabeth R Pomp
    Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
    Br J Haematol 139:289-96. 2007
    ..Relative to non-carriers of normal BMI, the joint effect of factor V Leiden and obesity led to a 7.9-fold increased risk (OR(adj) 7.86, 95% CI 4.70-13...
  50. ncbi The contribution of amino acid residues 1508-1515 of factor V to light chain generation
    E Erdogan
    Department of Chemistry, Cleveland State University, Cleveland, OH 44115, USA
    J Thromb Haemost 6:118-24. 2008
    ..Factor (F) V is activated by alpha-thrombin following cleavages at Arg(709), Arg(1,018) and Arg(1,545). Amino acid region 1,490-1,520 of FV is essential for procofactor activation...
  51. ncbi Inheritance and perinatal consequences of inherited thrombophilia in Greece
    Marina Karakantza
    Department of Internal Medicine, Division of Hematology, University of Patras Medical School, Patras, Greece
    Int J Gynaecol Obstet 100:124-9. 2008
    ..To investigate the impact of inherited thrombophilic factors on the gestational outcome of unselected pregnant women...
  52. pmc Contribution of amino acid region 334-335 from factor Va heavy chain to the catalytic efficiency of prothrombinase
    Melissa A Barhoover
    Department of Chemistry, Cleveland State University, Cleveland, Ohio 44115, USA
    Biochemistry 47:6840-50. 2008
    ..We constructed recombinant factor V molecules with the mutations D (334) --> K and Y (335) --> F (factor V (KF)) and D (334) --> A and Y (..
  53. pmc Cooperative regulation of the activity of factor Xa within prothrombinase by discrete amino acid regions from factor Va heavy chain
    Melissa A Barhoover
    Department of Chemistry, Cleveland State University, Cleveland, Ohio 44115, USA
    Biochemistry 47:12835-43. 2008
    ..created recombinant factor Va molecules combining mutations at amino acid regions 334-335 and 695-698 as follows: factor V(3K) ((334)DY(335) --> KF and (695)DYDY(698) --> KFKF), factor V(KF/4A) ((334)DY(335) --> KF and (695)..
  54. ncbi Polymorphisms in the protein C gene as risk factor for venous thrombosis
    Elisabeth R Pomp
    Department of Clinical Epidemiology, C9 P, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    Thromb Haemost 101:62-7. 2009
    ..In addition the combined effect of the two polymorphisms with factor V Leiden and oral contraceptive use was investigated...
  55. ncbi Ischaemic stroke patients with heterozygous factor V Leiden present with multiple brain infarctions and widespread atherothrombotic disease
    Elena Haapaniemi
    Department of Neurology, Helsinki University Central Hospital, Haartmaninkatu 4, 00290 Helsinki, Finland
    Thromb Haemost 101:145-50. 2009
    b>Factor V Leiden (FVL) mutation is a risk factor for venous and, to a degree, arterial thrombosis. It is unknown whether and how FVL affects the manifestations of ischaemic stroke (IS)...
  56. doi Genetic thrombophilia variants and risk for preeclampsia among American Indians
    Lyle G Best
    Turtle Mountain Community College, Belcourt, North Dakota, USA
    Hypertens Pregnancy 28:85-94. 2009
    ..To determine the prevalence of thrombophilic genetic variants in an American Indian population and determine if they are associated with preeclampsia...
  57. pmc A bipartite autoinhibitory region within the B-domain suppresses function in factor V
    Mettine H A Bos
    Division of Hematology, The Children s Hospital of Philadelphia, PA 19104, USA
    J Biol Chem 287:26342-51. 2012
    Activation of blood coagulation factor V (FV) is a key reaction of hemostasis...
  58. ncbi Mutation in blood coagulation factor V associated with resistance to activated protein C
    R M Bertina
    Hemostasis and Thrombosis Research Center, University Hospital, Leiden, The Netherlands
    Nature 369:64-7. 1994
    ..phenotype of APC resistance is associated with heterozygosity or homozygosity for a single point mutation in the factor V gene (at nucleotide position 1,691, G-->A substitution) which predicts the synthesis of a factor V molecule (..
  59. ncbi Defining the factor Xa-binding site on factor Va by site-directed glycosylation
    Marten Steen
    Department of Clinical Chemistry, Division of Laboratory Medicine, Lund University, The Wallenberg Laboratory, Malmo General Hospital, Malmo SE 205 02, Sweden
    J Biol Chem 277:50022-9. 2002
    Activated Factor V (FVa) functions as a membrane-bound cofactor to the enzyme Factor Xa (FXa) in the conversion of prothrombin to thrombin, increasing the catalytic efficiency of FXa by several orders of magnitude...
  60. ncbi Removal of B-domain sequences from factor V rather than specific proteolysis underlies the mechanism by which cofactor function is realized
    Raffaella Toso
    Division of Hematology, School of Medicine, University of Pennsylvania, The Children s Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA
    J Biol Chem 279:21643-50. 2004
    b>Factor V, the precursor of factor Va, circulates in plasma with little or no procoagulant activity...
  61. pmc Mapping of the factor Xa binding site on factor Va by site-directed mutagenesis
    Marten Steen
    Department of Laboratory Medicine, Division of Clinical Chemistry, Lund University, The Wallenberg Laboratory, MAS, SE 205 02 Malmo, Sweden
    J Biol Chem 283:20805-12. 2008
    Activated coagulation factor V functions as a cofactor to factor Xa in the conversion of prothrombin to thrombin...
  62. pmc Complete cDNA and derived amino acid sequence of human factor V
    R J Jenny
    Proc Natl Acad Sci U S A 84:4846-50. 1987
    cDNA clones encoding human factor V have been isolated from an oligo(dT)-primed human fetal liver cDNA library prepared with vector Charon 21A...
  63. ncbi A novel mutation of Arg306 of factor V gene in Hong Kong Chinese
    W P Chan
    Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong
    Blood 91:1135-9. 1998
    We have analyzed 83 unrelated Hong Kong Chinese for the presence of genetic variants of factor V gene. Forty-three of them had a history of deep vein thrombosis...
  64. ncbi Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C
    D Williamson
    Department of Haematology, Addenbrooke s NHS Trust, Cambridge, UK
    Blood 91:1140-4. 1998
    ..first description of a mutation affecting the Arg306 APC cleavage site and is the only mutation, other than factor V Leiden (Arg506-->Gln), that has been found in association with APC resistance...
  65. ncbi Proteolysis of factor V by cathepsin G and elastase indicates that cleavage at Arg1545 optimizes cofactor function by facilitating factor Xa binding
    R M Camire
    Department of Biochemistry, University of Vermont, College of Medicine, Burlington, Vermont 05405, USA
    Biochemistry 37:11896-906. 1998
    The single-chain procofactor factor V is cleaved by thrombin (FVaIIa) at Arg709, Arg1018, and Arg1545 and by a variety of other proteases to generate a cofactor species with various levels of cofactor function...
  66. ncbi Mutations in coagulation factors in women with unexplained late fetal loss
    I Martinelli
    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Istituto di Ricovero e Cura a Carattere Scientifico Maggiore Hospital, University of Milan, Italy
    N Engl J Med 343:1015-8. 2000
    b>Factor V and prothrombin-gene mutations are independent risk factors for venous thrombosis; it is debated whether a mutation in the gene encoding methylenetetrahydrofolate reductase, an enzyme involved in homocysteine metabolism, also ..
  67. ncbi Abdominal venous thrombosis in neonates and infants: role of prothrombotic risk factors - a multicentre case-control study. For the Childhood Thrombophilia Study Group
    C Heller
    Department of Paediatrics, University of Frankfurt, Germany
    Br J Haematol 111:534-9. 2000
    The factor V (FV) G1691A mutation, the prothrombin (PT) G20210A variant, the methylenetetrahydrofolate reductase (MTHFR) T677T genotype, together with fasting homocysteine (HCY) concentration, lipoprotein (Lp)(a), anti-thrombin (AT), ..
  68. ncbi Prevalence of the factor VR506Q mutation in two Irish control populations: use of a novel nested polymerase chain reaction approach
    W J Livingstone
    The National Centre for Hereditary Coagulation Disorders, St James s Hospital, Dublin 8, Ireland
    Br J Haematol 111:559-61. 2000
    The prevalence of factor V (FV) Leiden among normal populations has primarily been determined using blood donors. This control group is carefully selected and therefore may not accurately reflect the true prevalence within the population...
  69. pmc Factor V Leiden related Budd-Chiari syndrome
    P Deltenre
    Service d Hepatologie, Hopital Beaujon, Clichy, France
    Gut 48:264-8. 2001
    The role of factor V Leiden as a cause of Budd-Chiari syndrome has only recently been described.
  70. ncbi The prevalence of factor V Leiden as a risk factor for venous thromboembolism in the population of North-Western Greece
    H V Ioannou
    Department of Surgery, University Hospital of Ioannina, Greece
    Int Angiol 19:314-8. 2000
    Many predisposing factors have been associated with the development of venous thromboembolism. Recently, Factor V Leiden has been described as a common genetic risk factor...
  71. ncbi Factor V Leiden and its relation to left ventricular thrombus in acute myocardial infarction
    S Celik
    KTU Faculty of Medicine, Department of Cardiology, Trabzon, Turkey
    Acta Cardiol 56:1-6. 2001
    The genetic defect of coagulation factor V, known as factor V Leiden, produces a resistance to degradation by activated protein C (APC) and increases the risk of venous thrombosis...
  72. ncbi Survey of factor V leiden and prothrombin gene mutations in systemic lupus erythematosus
    R Topaloglu
    Hacettepe University School of Medicine, Department of Pediatric Nephrology and Rheumatology, Ankara, Turkey
    Clin Rheumatol 20:259-61. 2001
    The two most common hereditary risk factors for thrombosis are factor V Leiden mutation and a prothrombin gene mutation...
  73. ncbi Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: a prospective cohort study
    Paolo Simioni
    Department of Medical and Surgical Sciences, Second Chair of Internal Medicine, University of Padua Medical School, Via Ospedale, 105 35128 Padua, Italy
    Blood 99:1938-42. 2002
    ..venous thromboembolism (VTE) in asymptomatic family members of patients who experienced VTE and had the factor V Leiden mutation...
  74. ncbi Prothrombotic genotypes are not associated with pre-eclampsia and gestational hypertension: results from a large population-based study and systematic review
    E R Morrison
    Department of Medicine and Therapeutics, University of Aberdeen, Scotland
    Thromb Haemost 87:779-85. 2002
    ..The polymorphisms studied were: G1691A in Factor V (Factor V Leiden; FVL), prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T, plasminogen activator ..
  75. ncbi Factor V Leiden: The Copenhagen City Heart Study and 2 meta-analyses
    Klaus Juul
    Department of Clinical Biochemistry, Herlev University Hospital, Herlev, Denmark
    Blood 100:3-10. 2002
    b>Factor V Leiden (FVL) is associated with venous thrombosis; however, an association between FVL and arterial thrombosis remains controversial...
  76. ncbi Functional characterization of recombinant FV Hong Kong and FV Cambridge
    Eva Norstrøm
    Department of Clinical Chemistry, Division of Laboratory Medicine, Lund University, University Hospital Malmo, Sweden
    Blood 100:524-30. 2002
    In factor V (FV) Cambridge (Arg306Thr) and Hong Kong (Arg306Gly), a cleavage site for anticoagulant activated protein C (APC), which is crucial for the inactivation of FVa, is lost...
  77. ncbi Identification of a binding site for blood coagulation factor Xa on the heavy chain of factor Va. Amino acid residues 323-331 of factor V represent an interactive site for activated factor X
    Michael Kalafatis
    Department of Chemistry, Cleveland State University, Cleveland, Ohio 44115, USA
    Biochemistry 41:12715-28. 2002
    ..Our data demonstrate that amino acid sequence 323-331 of factor Va heavy chain contains a binding site for factor Xa...
  78. ncbi Factor V: a combination of Dr Jekyll and Mr Hyde
    Kenneth G Mann
    Department of Biochemistry, University of Vermont, College of Medicine, Burlington 05405, USA
    Blood 101:20-30. 2003
  79. ncbi No association between thrombosis and factor V gene polymorphisms in Chinese Han population
    Hu Yanqing
    Department of Hematology, Xiangya Hospital of Central South University, Changsha 410008, China
    Thromb Haemost 89:446-51. 2003
    ..And it is significantly linked to a single nucleotide polymorphisms (SNPs) in the coagulation factor V gene that results in the mutations at R506, R306 and HR2 alleles...
  80. ncbi Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia
    Bryce A Kerlin
    Blood Research Institute, Blood Center of Southeast Wisconsin and Medical College of Wisconsin, Milwaukee, WI 53226, USA
    Blood 102:3085-92. 2003
    ..The effect of prothrombotic polymorphism, factor V Leiden (Arg506Gln; FV Leiden), was examined in a large clinical trial (PROWESS) of severe sepsis and a mouse ..
  81. ncbi The contribution of amino acid region ASP695-TYR698 of factor V to procofactor activation and factor Va function
    Daniel O Beck
    Department of Chemistry, Cleveland State University, Cleveland, Ohio 44115, USA
    J Biol Chem 279:3084-95. 2004
    ..6 microm (with a K(D) for prothrombin of 850 nm), and activation of factor V by thrombin. Peptides HC3, HC4, and DYDYQ were also found to interact with immobilized thrombin...
  82. ncbi Modulation of factor V levels in plasma by polymorphisms in the C2 domain
    Daniela Scanavini
    Department of Biochemistry and Molecular Biology, Ferrara University, Italy
    Arterioscler Thromb Vasc Biol 24:200-6. 2004
    ..Functional polymorphisms contributing to coagulation factor levels are preferential markers for association studies aimed at identifying prothrombic genetic components...
  83. pmc The presence of multiple prothrombotic risk factors is associated with a higher risk of thrombosis in individuals with anticardiolipin antibodies
    Marie Hudson
    Division of Rheumatology, McGill University Health Centre, Montreal General Hospital, Montreal, Quebec, Canada
    J Rheumatol 30:2385-91. 2003
    ....
  84. ncbi Ethnic differences in the association of factor V Leiden mutation and the C677T methylenetetrahydrofolate reductase gene polymorphism with preeclampsia
    Damar Prasmusinto
    Department of Obstetrics and Gynecology, Section of Endocrinology and Reproductive Medicine, University of Bonn, Sigmund Freudstrasse 25, 53127 Bonn, Germany
    Eur J Obstet Gynecol Reprod Biol 112:162-9. 2004
    This case-control study evaluates the association of the factor V Leiden mutation with preeclampsia and potential synergistic effects of the MTHFR-677T and factor V Leiden mutations with regard to disease risk in two different ethnic ..
  85. ncbi The factor V activation paradox
    Thomas Orfeo
    Department of Biochemistry, University of Vermont, 89 Beaumont Avenue, Burlington, VT 05405 0068, USA
    J Biol Chem 279:19580-91. 2004
    ..The activation of the procofactor, factor V, to factor Va is an essential reaction that occurs early in the process of tissue factor-initiated blood ..
  86. ncbi Factor V Leiden and the risk for venous thromboembolism in the adult Danish population
    Klaus Juul
    Herlev University Hospital, Herlev, Denmark
    Ann Intern Med 140:330-7. 2004
    ..Odds ratios for venous thromboembolism (deep venous thrombosis and pulmonary embolism) derived from case-control studies range from 3 to 16 for heterozygotes compared with noncarriers and up to 79 for homozygotes compared with noncarriers...
  87. ncbi Factor V Leiden and prothrombin gene G20210A mutations in Italian patients with Behçet's disease and deep vein thrombosis
    Mauro Silingardi
    Ospedale di Reggio Emilia, Regio Emilia, Italy
    Arthritis Rheum 51:177-83. 2004
    To evaluate the frequency and type of vascular lesions and to study the association of factor V gene G1691A (Leiden) and prothrombin gene G20210A polymorphisms with venous thrombosis in Italian patients with Behçet's disease (BD).
  88. ncbi Genetic thrombophilias and preeclampsia: a meta-analysis
    Julie Lin
    Renal Division, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Obstet Gynecol 105:182-92. 2005
    To assess the relationship between the factor V Leiden (1691 G-A) single nucleotide polymorphism (SNP), the methylene tetrahydrofolate reductase (MTHFR) 677 C-T SNP, and the prothrombin 20210 G-A SNP and the risk of preeclampsia, by ..
  89. ncbi The G20210A prothrombin-gene mutation and the plasminogen activator inhibitor (PAI-1) 5G/5G genotype are associated with early onset of severe preeclampsia
    A Gerhardt
    Department of Obstetrics and Gynecology, Heinrich Heine University Medical Center, Dusseldorf, Germany
    J Thromb Haemost 3:686-91. 2005
    ..design, there was no significant risk association of the hereditary risk factors with severe preeclampsia [factor V Leiden, odds ratio (OR) 0.9, 95% confidence interval (CI) 0.4, 2.2; prothrombin mutation, OR 1.9, 95% CI 0.5, 7...
  90. ncbi Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia
    I P Davalos
    Divisiones de Genética y Medicina Molecular del Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada 800, Col Independencia, CMNO, CP 44330, Guadalajara, Jal Mexico
    Blood Cells Mol Dis 35:66-9. 2005
    ..We studied single nucleotide polymorphisms for MTHFR C677T and coagulation Factor V Leiden in 33 Mexican patients with PE/E as a genetic risk factor for these diseases, comparing with a ..
  91. ncbi A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis
    Wassim Y Almawi
    Al Jawhara Center for Molecular Medicine, Genetics, and Inherited Diseases, Arabian Gulf University, Manama, Bahrain
    J Thromb Thrombolysis 19:189-96. 2005
    Insofar as the inherited prothrombotic single nucleotide polymorphisms (SNPs) factor V G1691A (FV-Leiden), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR), C677T are inherited risk factors of venous ..
  92. ncbi The relationship of the factor V Leiden mutation and pregnancy outcomes for mother and fetus
    Donna Dizon-Townson
    National Institute of Child Health and Human Development Maternal Fetal Medicine Units Network, Bethesda, Maryland, USA
    Obstet Gynecol 106:517-24. 2005
    We sought to estimate the frequency of pregnancy-related thromboembolic events among carriers of the factor V Leiden (FVL) mutation without a personal history of thromboembolism, and to evaluate the impact of maternal and fetal FVL ..
  93. ncbi [Factor V Leiden (G1691A) and prothrombin-G20210A alleles among patients with deep venous thrombosis and in the general population from Spain]
    Francesc Frances
    Unidad de Epidemiología Genética y Molecular, Departament de Medicina Preventiva, Universitat de Valencia, Espana
    Rev Med Chil 134:13-20. 2006
    b>Factor V leiden and the -G20210A variant of prothrombin gene are associated to a higher risk of deep venous thrombosis.
  94. ncbi Prevalence of factor V Leiden and prothrombin G20210A mutations in Chinese patients with deep venous thrombosis and pulmonary embolism
    Z J Jun
    China Japan Union Hospital, Ji Lin University, Changchun, China
    Clin Lab Haematol 28:111-6. 2006
    ..Several genetic risk factors, especially factor V Leiden and prothrombin G20210A mutations have been reported to be related to VTE in Caucasians, but the relationship ..
  95. pmc Factor V Leiden is associated with higher risk of deep venous thrombosis of large blood vessels
    Todor Arsov
    Laboratory of Molecular Diagnostics, Department of Hematology, University Hospital and Faculty of Medicine in Skopje, Republic of Macedonia
    Croat Med J 47:433-9. 2006
    To determine the prevalence of factor V Leiden mutation in patients with different presentation of venous thromboembolic disease and healthy individuals in the Republic of Macedonia.
  96. ncbi Hyperhomocysteinaemia and factor V Leiden mutation are associated with Budd-Chiari syndrome
    Yusuf Colak
    Department of Gastroenterology, Ege University Medical School, Izmir, Turkey
    Eur J Gastroenterol Hepatol 18:917-20. 2006
    ..We aimed to study the role of hyperhomocysteinaemia, factor V Leiden mutation and G20210A prothrombin gene mutation in the pathogenesis of the syndrome.
  97. ncbi Relationship between polymorphisms in thrombophilic genes and preeclampsia in a Brazilian population
    C A Dalmáz
    Departamento de Genetica, Instituto de Biociencias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91 501 970 Porto Alegre, RS, Brazil
    Blood Cells Mol Dis 37:107-10. 2006
    ..99-4.30; prothrombin mutation (F II) (GA or AA genotypes) OR 8.11, 95% CI 0.89-73.92; factor V Leiden (FV Leiden) OR 3.94, 95% CI 0.35-44.23; plasminogen activator inhibitor (PAI-1) 4G/4G genotype, OR 1...
  98. ncbi A control switch for prothrombinase: characterization of a hirudin-like pentapeptide from the COOH terminus of factor Va heavy chain that regulates the rate and pathway for prothrombin activation
    Michael A Bukys
    Department of Chemistry, Cleveland State University, Cleveland, Ohio 44115, USA
    J Biol Chem 281:39194-204. 2006
    ..Our data demonstrate that pentapeptide DYDYQ has opposing effects on membrane-bound factor Xa for prothrombin cleavage, depending on the incorporation of factor Va in prothrombinase...
  99. ncbi Inherited thrombophilias and pre-eclampsia in Brazilian women
    Luci Maria SantAna Dusse
    Department of Clinical and Toxicological Analysis, Faculty of Pharmacy, Federal University of Minas Gerais, Belo Horizonte, Minas Gerais, Brazil
    Eur J Obstet Gynecol Reprod Biol 134:20-3. 2007
    ..The aim of the present study was to compare the distribution of G1691A, G20210A and C677T mutations in pre-eclamptic Brazilian women and in matched control women with an uncomplicated normal pregnancy...
  100. ncbi Association of genetic variations with nonfatal venous thrombosis in postmenopausal women
    Nicholas L Smith
    Department of Epidemiology, University of Washington, Seattle, WA 98101, USA
    JAMA 297:489-98. 2007
    ....
  101. ncbi Homozygosity for the C46T polymorphism of the F12 gene is a risk factor for venous thrombosis during the first pregnancy
    E Cochery-Nouvellon
    Haematology Laboratory, University Hospital, Nimes, France
    J Thromb Haemost 5:700-7. 2007
    A first thromboembolic event during pregnancy and puerperium is predisposed to by polymorphisms G1691A in the factor V gene (F5) (F5G1691A) and G20210A in the prothrombin gene (F2) (F2G20210A).

Research Grants73

  1. Immuno Biosensor for Real-Time Factor V Leiden Diagnosis
    KYUNG KANG; Fiscal Year: 2005
    ..Goal of the project is to develop a rapid, accurate, and inexpensive diagnostic immuno-optical biosensor for Factor V Leiden (FVL) diagnosis...
  2. Decidual-Endothelial Tissue Factor and IUGR
    Charles Lockwood; Fiscal Year: 2006
    ..These pathological obstetrical conditions are associated with acquired and inherited thrombophilias (e.g. Factor V Leiden)...
  3. MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISM
    Bruce Psaty; Fiscal Year: 2001
    DESCRIPTION: (Adapted from Investigator's Abstract) Epidemiologic studies have identified Factor V Leiden as the most common cause of heritable thrombophilia a prothrombotic mutation associated with a 5 to 7-fold increase in the risk of ..
  4. Determinants of Venous Thromboembolism in Older People
    Robert J Glynn; Fiscal Year: 2010
    ..disease, stroke and diabetes, on risk of VTE;interactions of genetic determinants of VTE, including factor V Leiden, the prothrombin mutation and polymorphisms in the MTHFR gene with age;whether genetic variants in adhesion ..
  5. Kent R Bailey; Fiscal Year: 2016
    ..in the observed incidence of VTE;in Aim 2 to determine "when genetic testing is appropriate" by 2a) testing Factor V Leiden, Prothrombin G20210A, and novel ABO SNPs as risk factors for VTE after hospitalization for major surgery and ..
  6. Jun Li; Fiscal Year: 2015
    ..However, known common variants, confirmed in recent genome-wide association studies (GWAS), such as Factor V Leiden and the ABO blood group, account for only half of this risk...
  7. MOLECULAR BIOLOGY OF HUMAN COAGULATION FACTOR V
    Thomas Ortel; Fiscal Year: 2010
    ..A membrane binding site was localized to the factor V C2 domain and the structures of two crystal forms of this domain have been elucidated...
  8. STRUCTURE AND FUNCTION OF HEPARIN COFACTOR II
    Douglas M Tollefsen; Fiscal Year: 2010
    ..C57BL/6 mice with HCII deficiency in combination with factor V Leiden or protein Z deficiency will be observed for evidence of spontaneous thrombosis or other abnormalities...
  9. NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS
    Edwin Naylor; Fiscal Year: 2002
    ..Alpha-1-Antitrypsin Deficiency Z allele (G9989a) and S allele (A7677T); 4). Hereditary Thrombophilia (Factor V Leiden G1691A, Prothrombin G20210A, Methylenetetrahydrofolate reductase C677T); 5)...
  10. Genetic Risk Factors for CVA in Children with Hb SS
    Abdullah Kutlar; Fiscal Year: 2004
    ..ID (insertion/deletion) polymorphism, prothrombin 20210 G to A mutation, and mutations in the Factor V gene (Factor V Leiden, Rsa I polymorphisms; in exon 13 of the factor V gene known as R2 and R3 haplotypes, and Factor V R485K ..
  11. Diagnosing DNA Mutations Using Mismatch Repair Enzymes
    LEONARD BAZAR; Fiscal Year: 2004
    ..validate FRET-MIDAS reagents for the detection of high-risk oncogenic human papilloma virus (HPV) and the Coagulation factor V Leiden mutation, which are associated with cervical cancer and thrombophilia, respectively...
  12. SECONDARY PREVENTION TRIAL OF VENOUS THROMBOSIS
    Paul Ridker; Fiscal Year: 2002
    ..low dose warfarin in the secondary prevention of venous thromboembolism (VTE) among patients with and without factor V Leiden mutation, a common inherited defect of hemostasis associated with increased risk of recurrent thrombus ..
  13. ORAL CONTRACEPTIVES AND THROMBOEMBOLIC DISEASE
    Stephen Sidney; Fiscal Year: 2000
    ..of low-dose (<50 micrograms estrogen) oral contraceptive (OC) preparations; and b) the prevalence of the factor V Leiden mutation in cases and controls and the relative and attributable risk of venous thromboembolic disease ..
  14. SECONDARY PREVENTION TRIAL OF VENOUS THROMBOSIS-DCC
    Robert Glynn; Fiscal Year: 2002
    ..This appears true for high risk patients (factor V Leiden mutation) as well as for the general population...
  15. Epidemiologic Study of Placental Abruption
    Cande Ananth; Fiscal Year: 2006
    ..from which DNA will be extracted and assayed for genetic mutations and polymorphisms, including those for factor V Leiden (1691G yields A), prothrombin gene (20210G yields A), the 677C yields T and 1298A yields C polymorphisms in 5,..
  16. Steven T Olson; Fiscal Year: 2016
    ..case of anti-thrombin and increased thrombosis when mice are given a thrombotic challenge or are bred on a factor V Leiden background in the case of ZPI...
  17. MOLECULAR GENETICS OF COAGULATION DISORDERS
    David Ginsburg; Fiscal Year: 2013
    ..PPG will: (1) continue a whole genome ENU mutagenesis analysis in the mouse to identify genetic modifiers of factor V Leiden, while also taking advantage of natural murine strain variation to identify additional thrombosis modifiers, ..
  18. Epidemiology of Venous Thromboembolism
    Robert Glynn; Fiscal Year: 2004
    ..of participants at baseline and will be used to assess biochemical and genetic markers of risk including factor V Leiden, the G20210A mutation in the prothrombin gene, hyperhomocysteinemia, and anticardiolipin antibodies...
  19. Risk-Benefit Framework for Genetic Tests
    David L Veenstra; Fiscal Year: 2010
    ..to two additional case studies: a) Gene expression profiling in women with early stage breast cancer, and b) Factor V Leiden testing for pregnant women with clotting or adverse pregnancy outcomes;(3) Evaluate and optimize the utility ..
  20. Surrogate markers for Severe Pulmonary Embolism
    JEFFREY KLINE; Fiscal Year: 2005
    ..if patients with PE complicated by an adverse outcome are more likely to have antiphospholipid antibodies, or factor V Leiden G1691A, prothrombin G20210A, methylenetetrahydrofolate reductase C677T mutations, or low red blood cell ..
  21. COMMON VARIANTS IN CANDIDATE GENES AND PREMATURE MI RISK
    Stephen Schwartz; Fiscal Year: 2001
    ..Those data show that common polymorphisms in genes coding for two clotting factors, coagulation Factor V and coagulation Factor II, are risk factors for MI only among cigarette smokers in this sample...
  22. NEWBORN SCREENING BY MULTIPLEX MOLECULAR ANALYSIS
    Edwin Naylor; Fiscal Year: 1999
    ..sickle cell hemoglobinopathies S, C, and E alleles; alpha-1-Antitrypsin Deficiency S allele and Z allele; Factor V Leiden A1691G; and Hemochromatosis G845A...
  23. Molecular Diagnostic Assays for Genetic Disease
    Hashem Akhavan Tafti; Fiscal Year: 2001
    ..Applicant's Abstract): The objective of Phase 1 is to develop a sensitive test and kit for detection of the Factor V Leiden mutation in human blood using a new nucleic acid ligation-based technology invented at Lumigen...
  24. Molecular Diagnostic Assays for Genetic Diseases
    Hashem Akhavan Tafti; Fiscal Year: 2004
    Phase I of this proposal proved the feasibility of detection of the factor V Leiden mutation in human blood and correct determination of sample genotype as compared to a reference PCR method...
  25. SNP Detection with Unlabeled, Unamplified Target DNA
    WANDA WHITE; Fiscal Year: 2002
    ..for SNP detection could be used in medical clinics for identifying disease causing mutations, such as human coagulation factor V Leiden, and in laboratories to study allele frequency and construct genetic maps...
  26. AN ASSAY FOR GENETIC MUTATIONS CAUSING HYPERCOAGULATION
    SUDHAKAR MARLA; Fiscal Year: 2000
    ..goal of the proposed research is to develop a rapid, cost efficient, simultaneous assay for determination of Factor V Leiden gene, the G20210 prothrombin gene, and C677T MTHFR gene mutations...
  27. Genetic Profiles for Perioperative Applications
    ROBERT KWIATKOWSKI; Fiscal Year: 2001
    ..volatile anesthetics (RYR1, CACNA1s), and the risk and severity of sepsis (TNF-alpha, TNF-beta), and thrombosis (FVL, Prothrombin)...
  28. FUNCTIONAL AND METABOLIC PROPERTIES OF TOXIC NEUTROPHILS
    Charles McCall; Fiscal Year: 2003
    ..These investigations will increase our understanding of the mechanisms that regulate pro- inflammatory gene expression and contribute to improving the management of patients with sepsis. ..
  29. Association of Thrombophilia and Inflammation with Post-Thrombotic Syndrome
    Mary Cushman; Fiscal Year: 2008
    ..Resultant disability is estimated at 2 million lost workdays/year and medical costs as $300 million yearly. Findings here can form the basis for development of new therapies to treat, and moreover prevent,PTS. ..
  30. Functional Domains of Coagulation Factor V
    Michael Kalafatis; Fiscal Year: 2007
    ..The procofactor, factor V, does not participate in prothrombinase...
  31. Stabilized factor VIIIa as improved therapy for hemophilia A
    ANDREW GALE; Fiscal Year: 2008
    ..This treatment could improve the quality of life and overall health of the hemophilia A sufferers. ..
  32. Individual Propensity to Venous Thrombosis
    John Heit; Fiscal Year: 2009
    ..We will also investigate the joint effects of these susceptibility genes on VTE stratified on Factor V Leiden;and Aim 3: To determine if functional assays of circulating whole blood procoagulant activity associate with ..
  33. Role of Coagulation System Variability: Cardiac Surgery
    Brian Donahue; Fiscal Year: 2006
    ..The project will make extensive use of data in the Vanderbilt Cardiac Surgery Registry, a valuable database of genetic and clinical data presently being prospectively collected on elective adult cardiac surgery patients...
  34. Novel Anticoagulant Mechanisms
    MARY HEEB; Fiscal Year: 2006
    ..We will find whether a ZPI polymorphism we identified affects function. ..
  35. FORMS OF PROSTATE SPECIFIC ANTIGEN AND HK2 IN CANCER
    MARY HEEB; Fiscal Year: 2003
    ..Techniques will include protein purification, antibody and ELISA development, immunoblotting, enzyme activity assays, and peptide synthesis. ..
  36. BREAST CANCER PREVENTION IN HODGKINS DISEASE
    Judy Garber; Fiscal Year: 2002
    ..We will also evaluate mammographic density as a potential intermediate endpoint that might permit more rapid completion of a randomized study. ..
  37. Dissection of cellular interactions with integrated functional genomics in comple
    Martin Hessner; Fiscal Year: 2008
    ..Understanding the relationship between mast cells, T effector, and TREG cells in autoimmunity and has the potential to establish a new paradigm for immune regulation and create new insights to human disease. ..
  38. MOLECULAR BASIS OF COAGULATION PROTEASE SPECIFICITY
    Alireza R Rezaie; Fiscal Year: 2010
    ....
  39. HEMODIALYSIS VASCULAR ACCESS CLINICAL TRIALS CONSORTIUM
    Michael Allon; Fiscal Year: 2007
    ..The primary endpoint will be fistula thrombosis within 6 weeks, and the secondary endpoint will be the ability to use the fistula successfully for dialysis within 6 months. ..
  40. Epidemiology of Syndromic GI Stromal Tumors
    Judy Ellen Garber; Fiscal Year: 2010
    ..Our goal is to define the spectrum of syndromic GISTs, and to generate the information that will form the basis for clinical counseling for members of GIST kindreds, with and without germline mutations in KIT or PDGFRA. ..
  41. Immune Thrombocytopenia and Low-Level Mercury Exposure
    Jodi Segal; Fiscal Year: 2006
    ..Segal with the necessary support for successful completion [unreadable] [unreadable] [unreadable]..
  42. 2002 Gordon Research Conference on Hemostasis
    David Ginsburg; Fiscal Year: 2002
    ..The extensive interactions and discussion that will occur at this conference will help identify new areas and directions for future research...
  43. Estrogen Receptor Variants,HDL, and Atherosclerosis
    David Herrington; Fiscal Year: 2005
    ....
  44. Vascular Access in Hemodialysis Patients
    Michael Allon; Fiscal Year: 2005
    ..The applicant will assist the trainees in acquiring the conceptual skills, research experience, and motivation required to pursue a successful career in Academic Nephrology. ..
  45. ESTROGEN, INFLAMMATION AND ATHEROSCLEROSIS
    David Herrington; Fiscal Year: 2001
    ....
  46. Machine Learning to Identify Complex Interactions in Genome-Wide Association Data
    David Herrington; Fiscal Year: 2009
    ..Determining specific genetic and/or environmental factors that influence a person's risk of disease may help doctors reduce risk for disease and reveal new treatments for disease. (End of Abstract) ..
  47. Estrogen Receptor Variance and CHD Risk in HERS
    David Herrington; Fiscal Year: 2004
    ..In addition, this information could lead to fundamentally important new knowledge about mechanisms of estrogen action, regulation of HDL cholesterol, and pathogenesis of CHD. ..
  48. Maternal Obesity, Fetal Genomics, and Atherosclerotic Metabolic Risk
    David Siscovick; Fiscal Year: 2009
    ..The long-term goals of the proposed study are to identify potential mechanistic targets for interventions to prevent the consequences of MO on the intra-uterine environment and adult AMR. ..
  49. Process & Outcomes of BRCAL/2 clinical testing
    Judy Garber; Fiscal Year: 2003
    ..The information learned from this project may help to create a standard for the optimal conduct of BRCA 1/2 testing, and potentially for other predisposition testing as well. ..
  50. The cGMP-dependent protein kinase pathway in platelets
    Xiaoping Du; Fiscal Year: 2009
    ..3.To characterize the roles and the signaling mechanisms of different isoforms of PKGin platelet secretion and aggregation. ..
  51. Androgens and subclinical atherosclerosis in young women
    David Siscovick; Fiscal Year: 2003
    ..In short, the proposed study addresses a potentially important and relatively unexplored area of investigation related to women's cardiovascular health. ..
  52. Views of Privacy of Genetic Information
    Robert Klitzman; Fiscal Year: 2005
    ..The findings of this study can enhance further policy, professional and public education, and future research in this area. ..
  53. CKIS AND CONTROL OF VASCULAR SMOOTH MUSCLE CELL CYCLE
    David Ginsburg; Fiscal Year: 2001
    ..An understanding of these mechanisms should lend insight into the pathophysiology of vascular diseases, and determine whether enhancement of p21 and p27 expression in arteries may limit excessive vsmc proliferation in these diseases. ..
  54. Bcr-Abl RNA levels to monitor STI571 leukemia therapy
    Richard Press; Fiscal Year: 2004
    ..abstract_text> ..
  55. Functional Tissue Factor on Activated Endothelium
    Eric Grabowski; Fiscal Year: 2004
    ....
  56. Dielectrophoretic Separator for Cell/Pathogen Separation
    Ying Huang; Fiscal Year: 2003
    ..There examples address the needs of lowering the threshold for detection of cancer cells in blood, with the goal of diagnosing infectious disease and biowarfare agents without the need to first culture the pathogens. ..
  57. STUDENT PARTNERS IN CANCER RESEARCH AND EDUCATION
    Thomas Kelly; Fiscal Year: 2004
    ..Overall, these students will be able to communicate the importance of cancer detection, prevention, and appropriate treatment in their professional and every-day personal lives, regardless of their eventual specialization or practice. ..
  58. ISGS: The Ischemic Stroke Genetics Study
    JAMES MESCHIA; Fiscal Year: 2006
    ..The application and SWISS share the same definitions for the present and absence of phenotype and key enrollment criteria. ..
  59. Siblings With Ischemic Stroke Study (SWISS)
    JAMES MESCHIA; Fiscal Year: 2009
    ..DNA banking and the creation of permanent lymphoblastoid cell lines will be done to permit future collaborative efforts to study the genetic basis for stroke risk. ..
  60. Polyunsaturated fats & risk of primary cardiac arrest
    David Siscovick; Fiscal Year: 2005
    ..The proposed research provides a unique opportunity to examine more fully the role of dietary intake of n-3 PUFAs, particularly ALA, in efforts to reduce PCA, a major component of coronary heart disease mortality in the community. ..
  61. Low-Cost Digital Imaging System for Evaluating Thrombosis
    Brian Cooley; Fiscal Year: 2008
    ..This imaging methodology may have a capacity for future adaptation to clinical thrombosis imaging. [unreadable] [unreadable] [unreadable]..
  62. Outcomes of Perinatal Stroke
    Meredith Golomb; Fiscal Year: 2008
    ..During the last year of the study, she plans to apply for an R01 grant to set up a pilot clinical trial. [unreadable] [unreadable]..
  63. Views and Approaches Toward Research Integrity Among IRBs
    Robert Klitzman; Fiscal Year: 2007
    ..We anticipate that the data from this study will serve as a significant foundation in assisting future research and the improvement of Rl through guidelines, education and other capacity building. [unreadable] [unreadable] [unreadable]..
  64. Effect of Age on Vein Graft Neointimal Formation
    Brian Cooley; Fiscal Year: 2003
    ..Furthermore, the establishment of an age-associated model of vein grafting will permit age-specific evaluation of new therapeutic avenues for inhibiting neointimal formation. ..
  65. Induction of Tissue Factor by Patient Sera in HUS
    Eric Grabowski; Fiscal Year: 2007
    ..A key additional feature of this proposal is the use of our newly formed collaborative group of pediatric nephrologists to facilitate patient recruitment [unreadable] [unreadable]..
  66. Gene Polymorphisms and Kidney Transplant Outcome
    William Oetting; Fiscal Year: 2005
    ..abstract_text> ..
  67. THROMBOMODULIN FUNCTION IN CELLULAR PHYSIOLOGY
    Hartmut Weiler; Fiscal Year: 2007
    ..coagulation factors regulates placental growth, and address the pathogenic mechanism underlying fetal loss experienced by mothers with underlying thrombophilic states, such as that caused by the factor V Leiden mutation.
  68. Hemodynamic predictors of brain and cognitive aging
    Naftali Raz; Fiscal Year: 2005
    ....
  69. Inflammation Genomics and Atherosclerosis
    David Siscovick; Fiscal Year: 2006
    ..abstract_text> ..
  70. Thrombosis Gene Polymorphisms and Early CHD Risk in HERS
    David Herrington; Fiscal Year: 2004
    ..These polymorphisms include Factor V Leiden, prothrombin 20210A, Factor VII R353Q...
  71. HIGH DENSITY MICROARRAYS WITH QUANTITATIVE QC/QA
    Martin Hessner; Fiscal Year: 2006
    ..Our success will provide an accurate, flexible, lower cost alternative to commercial arrays for laboratories wishing to conduct gene expression studies. ..