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| factor vSummarySummary: Heat- and storage-labile plasma glycoprotein which accelerates the conversion of prothrombin to thrombin in blood coagulation. Factor V accomplishes this by forming a complex with factor Xa, phospholipid, and calcium (prothrombinase complex). Deficiency of factor V leads to Owren's disease. Top Publications
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Publications
Malignancies, prothrombotic mutations, and the risk of venous thrombosisJeanet W Blom
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
JAMA 293:715-22. 2005..all patients and controls were interviewed, a blood sample was taken, and DNA was isolated to ascertain the factor V Leiden and prothrombin 20210A mutations. MAIN OUTCOME MEASURE: Risk of venous thrombosis...
The mechanism of inactivation of human factor V and human factor Va by activated protein CM Kalafatis
Department of Biochemistry, University of Vermont, College of Medicine, Burlington 05405 0068
J Biol Chem 269:31869-80. 1994The cleavage of human factor V and human factor Va by human activated protein C (APC) was analyzed in the absence and presence of phospholipid vesicles containing 75% phosphatidylcholine (PC) and 25% phosphatidylserine (PS)...
Blood group AB and factor V Leiden as risk factors for pre-eclampsia: a population-based nested case-control studyLeena M Hiltunen
Department of Hemostasis, Finnish Red Cross Blood Service, Helsinki, Finland
Thromb Res 124:167-73. 2009..ABO blood group has been associated with thrombotic disorders and pre-eclampsia. We assessed ABO blood group, seven thrombophilia associated polymorphisms, and anti-beta2-glycoprotein I antibodies as risk factors for pre-eclampsia...
Varied prevalence of factor V G1691A (Leiden) and prothrombin G20210A single nucleotide polymorphisms among ArabsWassim Y Almawi
Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Arabian Gulf University, Manama, Bahrain
J Thromb Thrombolysis 20:163-8. 2005b>Factor V G1691A (FV-Leiden) and prothrombin (PRT) G20210A single nucleotide polymorphisms (SNPs) are major inherited risk factors of venous thromboembolism...
Combined Factor V and Factor VIII DeficiencyMarta Spreafico
A Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Medicine and Medical Specialties, IRCCS Maggiore Hospital, Mangiagalli and Regina Elena Foundation, University of Milan, 20122 Milan, Italy
Semin Thromb Hemost 35:390-9. 2009Combined deficiency of factor V (FV) and factor VIII (FVIII) (F5F8D, or FV+FVIII) is a autosomal recessive bleeding disorder caused by mutations in genes encoding two components of the endoplasmic reticulum (ER)-Golgi intermediate ..
Factor V Leiden and prothrombin gene G20210A mutations are uncommon in portal vein thrombosis in IndiaSanjay Sharma
Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India
Indian J Gastroenterol 25:236-9. 2006..The cause of thrombosis in these patients remains unclear. We studied the frequency of mutations in genes for coagulation factors V and II (prothrombin) in 61 Indian patients with PVT and 49 healthy control subjects...
Prevalence of factor V Leiden, prothrombin and methylene tetrahydrofolate reductase mutations in women with adverse pregnancy outcomes in LebanonLaila F Zahed
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Lebanon
Am J Obstet Gynecol 195:1114-8. 2006The purpose of this study was to determine the prevalence of factor V Leiden, prothrombin, and methylene tetrahydrofolate reductase gene mutations in women with adverse pregnancy outcome compared with women who had uneventful pregnancies.
Prevalence and association of the factor V Leiden and prothrombin G20210A in healthy subjects and patients with venous thromboembolismD Coen
Clinical Institute of Laboratory Diagnostics, Zagreb University Hospital Center, Zagreb, Croatia
Croat Med J 42:488-92. 2001To determine the prevalences of factor V Leiden and the G20210A mutation in the prothrombin gene (PT20210A) and the frequency of their association in healthy subjects and in patients with venous thromboembolism (VTE).
Factor V Leiden G1691A and prothrombin G20210A mutations are common in TunisiaC Frere
J Thromb Haemost 1:2451-2. 2003
Prevalence of antiphospholipid antibodies, factor V G1691A (Leiden) and prothrombin G20210A mutations in early and late recurrent pregnancy lossNabil Mtiraoui
Research Unit of Haematological and Autoimmune Diseases, Faculty of Pharmacy, Monastir, Center University, Tunisia
Eur J Obstet Gynecol Reprod Biol 119:164-70. 2005..We assessed the prevalence of inherited (FV-Leiden and PRT G20210A), and acquired (anti-PL antibodies) risk factors among habitual aborters in Tunisia...
Prevalence of factor V leiden, factor V cambridge, factor II G20210A and methylenetetrahydrofolate reductase C677T mutations in healthy and thrombophilic Serbian populationsV Djordjevic
Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro
Acta Haematol 112:227-9. 2004
Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in 200 healthy JordaniansSuhair S Eid
Molecular Laboratory, King Hussein Medical Centre, Jordan
Clin Lab Sci 17:200-2. 2004..In order to estimate the frequency of the factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in the Jordanian population, we screened 200 healthy ..
Prevalence of factor V Leiden mutation and other hereditary thrombophilic factors in Egyptian children with portal vein thrombosis: results of a single-center case-control studyHanaa El-Karaksy
Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt
Ann Hematol 83:712-5. 2004..Our aim was to assess the prevalence of factor V Leiden mutation and other thrombophilic factors as risk factors in the development of PVT in the pediatric age ..
Prevalence of two thrombophilia predisposing mutations: factor V G1691A (R506Q; Leiden) and prothrombin G20210A, among healthy LebaneseHala Tamim
Thromb Haemost 88:691-2. 2002
Allelic frequency of the factor V Leiden mutation and of the pro-thrombin gene 20210A mutation in healthy Tunisian populationLobna Bouaziz
Thromb Haemost 91:824-5. 2004
Absence of factor V Leiden mutation and low prothrombin G 20210 A mutation prevalence in a healthy Moroccan populationFlorence Mathonnet
Thromb Haemost 88:1073-4. 2002
Prevalence of factor V Leiden in patients with myocardial infarction and normal coronary angiographyJ Mansourati
Cardiology Department of Brest, North Hospital of Saint Etienne, France
Thromb Haemost 83:822-5. 2000b>Factor V Leiden is associated with an increased risk of venous thrombosis and myocardial infarction in young women, but not in men in this latter case...
Prevalence of factor V Leiden and prothrombin G20210A mutation in a large French population selected for nonthrombotic history: geographical and age distributionElisabeth Mazoyer
Hématologie biologique, Hopital Lariboisiere, Paris, France
Blood Coagul Fibrinolysis 20:503-10. 2009..These polymorphisms confer a very mild hypercoagulable state as shown by the limited increased in basal D-dimers in mutated FV-G1691A populations and only a trend that does not reach statistical significance for FII-G20210A population...
High incidence of factor V Leiden and prothrombin G20210A in healthy southern ItaliansGianluca Sottilotta
Centro Emofilia, Servizio Emostasi e Trombosi, Azienda Ospedaliera Bianchi Melacrino Morelli, Reggio Calabria, Italy
Clin Appl Thromb Hemost 15:356-9. 2009b>Factor V Leiden (FVL) and G20210 prothrombin (FII G20210A) mutations are risk factors for thromboembolism...
Deep venous thrombosis and thrombophilic mutations in western Iran: association with factor V LeidenZohreh Rahimi
Medical Biology Research Center, Kermanshah University of Medical Sciences, Iran
Blood Coagul Fibrinolysis 21:385-8. 2010The aim of present study was to investigate the prevalence of factor V Leiden (FVL) c.1691G>A, prothrombin g.20210G>A and methylenetetrahydrofolate reductase (MTHFR) c...
Prevalence of angiotensin-converting enzyme, methylenetetrahydrofolate reductase, Factor V Leiden, prothrombin and apolipoprotein E gene polymorphisms in MoroccoThierry Paluku They-They
Laboratoire de Génétique Médicale et Pathologie Moléculaire LGPM, Faculté de Médecine et de Pharmacie Casablanca, 19 rue Tarik Ibn Ziad, Casablanca, Morocco
Ann Hum Biol 37:767-77. 2010..These genetic factors are involved in several pathways affecting blood pressure regulation, blood coagulation, homocysteine and lipid metabolisms...
Distinct association of factor V-Leiden and prothrombin G20210A mutations with deep venous thrombosis in Tunisia and LebanonLobna Bouaziz-Borgi
Faculty of Pharmacy, University of Monastir, Tunisia
Am J Hematol 81:641-3. 2006b>Factor V G1691A (FV-Leiden) and prothrombin (PRT) G20210A single nucleotide polymorphisms (SNPs) were associated with venous thrombosis among Caucasians...
Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic reviewJodi B Segal
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
JAMA 301:2472-85. 2009..Testing for genetic risks for venous thromboembolism (VTE) is common, but the safety and utility of such testing need review...
Prothrombotic mutations as risk factors for cryptogenic ischemic cerebrovascular events in young subjects with patent foramen ovaleNicoletta Botto
CNR Institute of Clinical Physiology, G Pasquinucci Hospital, Massa, Italy
Stroke 38:2070-3. 2007..We evaluated the prevalence of the 2 most common genetic risk factors for thromboembolism, factor V Leiden (G1691A) and prothrombin G20210A, in young PFO patients who were referred for percutaneous transcatheter ..
Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screeningP M Ridker
Division of Preventive Medicine, Brigham and Women s Hospital, Boston, MA 02215 1204, USA
JAMA 277:1305-7. 1997To estimate ethnic-specific prevalence rates of factor V Leiden, an inherited defect of hemostasis associated with risk of venous thrombosis.
Factor V Leiden and prothrombin gene mutation may predispose to paradoxical embolism in subjects with patent foramen ovaleVesa Karttunen
Department of Neurology, Oulu University Central Hospital, Box 25, FIN 90029 Oulu, Finland
Blood Coagul Fibrinolysis 14:261-8. 2003..We assessed the occurrence of several prothrombotic states (factor V Leiden, prothrombin G20210A, deficiencies in protein S, protein C and antithrombin, lupus anticoagulant, ..
Renin-angiotensin system and haemostasis gene polymorphisms and outcome after coronary artery bypass graft surgeryHenry 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.
Homozygous Factor V Leiden mutation in sickle cell anaemiaU Kordes
Br J Haematol 116:236. 2002
Prevalence of factor V leiden mutation in patients with thrombosis in TunisiaA Ajem
Immunogenetic Unit, Faculty of Medicine of Sousse, Sousse, Tunisia
East Mediterr Health J 15:1483-8. 2009This study determined the prevalence of inherited factor V Leiden mutation in a group of 128 thrombosis patients (102 with venous thrombosis and 26 with arterial thrombosis) attending a hospital in Sousse, Tunisia, and a control group of ..
Association of factor V Leiden and prothrombin gene mutation with Behçet's diseaseU Tursen
Department of Dermatology, Faculty of Medicine, Mersin University, Turkey
Arch Dermatol Res 293:537-9. 2001
Prevalence of factor V Leiden and prothrombin G20210A gene mutationAhmet Irdem
Department of Pediatrics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
Saudi Med J 26:580-3. 2005To determine the prevalence of factor V Leiden (FVL) and prothrombin gene (PG) 20210A mutations in patients who attended the outpatient clinic and do not have a family history of thrombosis.
The impact of heterozygosity for the factor V Leiden and factor II G20210A mutations on the risk of thrombosis in Greek patientsA Hatzaki
Molecular Biology Department Research Center HYGEIA Antonis Papayiannis, Athens, Greece
Int Angiol 22:79-82. 2003..The goal of this study was to examine the efficiency of the selection criteria for performing a genetic test for the factor V G1691A (Leiden) and factor II G20210A mutations.
Prevalence of factor V Leiden, prothrombin G20210A, and MTHFR G677A among 594 thrombotic Jordanian patientsSuhair S Eid
King Hussein Medical Center, Princess Iman Research Center for Laboratory Sciences, Amman, Jordan
Blood Coagul Fibrinolysis 16:417-21. 2005..In order to estimate the frequency of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in Jordanian thrombotic patients, we studied 594 patients ..
An Arab selective gradient in the distribution of factor V G1691A (Leiden), prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677TG Ameen
J Thromb Haemost 3:2126-7. 2005
Influence of the 4600A/G and 4678G/C polymorphisms in the endothelial protein C receptor (EPCR) gene on the risk of venous thromboembolism in carriers of factor V LeidenPilar Medina
Research Center, La Fe University Hospital, Valencia, Spain
Thromb Haemost 94:389-94. 2005..The objective of this study was to assess whether these polymorphisms modify the risk of VTE in carriers of factor V (FV) Leiden...
Decision analysis model of prolonged oral anticoagulant treatment in factor V Leiden carriers with first episode of deep vein thrombosisF P Sarasin
Medical Clinics, Hospital Cantonal, University of Geneva Medical School, Switzerland
BMJ 316:95-9. 1998..treatment extended beyond 3 months after a first episode of deep vein thrombosis in patients who carry factor V Leiden mutation...
Arterial thrombosis associated with heterozygous factor V Leiden disorder, hyperhomocysteinemia, and peripheral arterial disease: importance of synergistic factorsCameron Page
Department of Surgery, VA Connecticut Healthcare System, Yale University School of Medicine, New Haven, CT 06519, USA
J Vasc Surg 42:1014-8. 2005A 47-year-old man with heterozygous factor V Leiden disorder and intermittent hyperhomocysteinemia developed spontaneous acute popliteal artery thrombosis. Homocysteine levels were above normal limits at presentation...
Frequent occurrence of anticardiolipin antibodies, Factor V Leiden mutation, and perturbed endothelial function in chronic myeloproliferative disordersMorten Krogh Jensen
Department of Haematology, Rigshospitalet, University Hospital of Copenhagen, Denmark
Am J Hematol 69:185-91. 2002..021; patients vs. controls). Seven patients were heterozygous for the Factor V Leiden, one patient was heterozygous for the prothrombin G20210A mutation, and one patient was homozygous for the ..
Factor V 1691 G-A mutation in children with intracardiac thrombosis: a prospective studyS Atalay
Department of Pediatric Cardiology, Ankara University, Turkey
Acta Paediatr 91:168-71. 2002..to determine the association between intracardiac thrombosis and hereditary causes of thrombophilia, including factor V 1691 G-A (factor V Leiden, FVL) and prothrombin 20210 G-A mutations...
Factor V Leiden and prothrombin gene 20210A variant in neonatal thromboembolism and in healthy neonates and adults: a study in a single centerBegum Atasay
Division of Neonatology, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey
Pediatr Hematol Oncol 20:627-34. 2003..Investigations included screening for factor V 1691A and prothrombin 20210A. Seven of 9 neonates had one or more risk factors at the time of thromboembolism...
Prevalence of resistance against activated protein C resulting from factor V Leiden is significantly increased in myocardial infarction: investigation of 507 patients with myocardial infarctionKatharina Middendorf
Medical Clinic I, Klinikum Grosshadern, Ludwig Maximilian University, Munich, Germany
Am Heart J 147:897-904. 2004A point mutation in the gene encoding coagulation factor V is a cause of resistance against activated protein C. The presence of factor V Leiden is linked to 50% of congenital defects causing venous thrombosis...
High frequency of factor V Leiden and prothrombin G20210A mutations in Greek hemophiliacsZ J Foka
J Thromb Haemost 1:1116-7. 2003
Race differences in the prevalence of the factor V Leiden mutation in Kuwaiti nationalsAli A Dashti
Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, P O Box 31470, 90805, Sulaibekhat, Kuwait
Mol Biol Rep 38:3623-8. 2011b>Factor V Leiden mutation (FVL; G1691A) is an established risk factor for venous thromboembolic disorders. FVL was reported with high prevalence in Caucasians (1-15%) but was absent in non-Caucasians like Africans and Asians...
Association between factor V Leiden mutation and poor pregnancy outcomes among Palestinian womenAyman S Hussein
Faculty of Medicine, An Najah National University, Nablus, Palestine
Thromb Res 126:e78-82. 2010..Among the inherited risk factors is Factor V Leiden mutation, an autosomal dominant trait with reduced penetrance...
Factor V Leiden thrombophiliaJody Lynn Kujovich
Northwest Cancer Specialists, Portland, OR 97227, USA
Genet Med 13:1-16. 2011b>Factor V Leiden is a genetic disorder characterized by a poor anticoagulant response to activated Protein C and an increased risk for venous thromboembolism...
Factor V Leiden and prothrombin G20210A mutations in pregnancies with adverse outcomeT Agorastos
First University Department of Obstetrics and Gynecology, Medical School, Aristotle University of Thessaloniki, Greece
J Matern Fetal Neonatal Med 12:267-73. 2002..The aim of this study was to investigate the relationship between specific obstetric adverse outcomes and factor V Leiden and prothrombin G20210A mutations.
Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutationsN Ozbek
Department of Pediatrics, Baskent University Faculty of Medicine, 6 Cadde No 72 3, 06490 Bahcelievler, Ankara, Turkey
Ann Hematol 82:118-20. 2003..This article highlights a case of a child with severe arterial thrombosis who was heterozygous for the factor V Leiden (FVL) and prothrombin G20210A mutations...
Extensive arterial thrombosis in a patient with factor V Leiden mutationMohammad Hossein Mandegar
Day General Hospital, Tavanir St, Vali Asr Ave, Tehran, Iran
Interact Cardiovasc Thorac Surg 11:127-9. 2010..Here, we report the case of a young male patient with factor V Leiden mutation who developed ascending aorta and aortic arch thrombosis and subsequent emboli.
Prevalence of factor V Leiden and G6PD 1311 silent mutations in Dalmatian populationVedrana Cikes
Laboratory for Molecular Biology, University of Split, School of Medicine, Split, Croatia
Arch Med Res 35:546-8. 2004BACKGROUND: Factor V Leiden has been described as a common genetic risk factor for venous thromboembolism. The geographic distribution of this abnormality varies greatly, being high in Europe and almost absent in Asia and Africa...
Thrombophilia in cardiac surgery-patients with symptomatic factor V LeidenParwis Massoudy
Department for Thoracic and Cardiovascular Surgery, West German Heart Center Essen, Hufelandstrasse 55, Essen, Germany
J Card Surg 24:379-82. 2009Thrombophilia may cause severe complications in cardiac surgical patients. We analyzed our experience with symptomatic factor V Leiden patients.
Thrombosis in children with cardiac pathology: frequency of factor V Leiden and prothrombin G20210A mutationsA Gurgey
Department of Pediatrics, Pediatric Hematology Unit, Hacettepe University, Faculty of Medicine, Ihsan Dogramac? Children's Hospital, 06100, Ankara, Turkey
Pediatr Cardiol 24:244-8. 2003..Two common mutations, namely factor V Leiden and prothrombin G20210A mutations, were found in 6 patients (22%)...
Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V LeidenZohreh Rahimi
Medical Biology Research Center, Kermanshah University of Medical Sciences, Kermanshah, Iran
J Thromb Thrombolysis 25:288-92. 2008..In a case-control study, the prevalence of factor V Leiden and prothrombin G20210A mutations were investigated among SCD patients from Southern Iran.
Genotyping of factor V G1691A (Leiden) without the use of PCR by invasive cleavage of oligonucleotide probesM J Hessner
The Diagnostic Laboratories of The Blood Center of Southeastern Wisconsin, Milwaukee, WI 53201 2178, USA
Clin Chem 46:1051-6. 2000The factor V G1691A Leiden (FVL) mutation is the most common known hereditary risk factor for venous thrombosis.
Lower contribution of factor V Leiden or G202104 mutations to ischemic stroke in patients with clinical risk factors: pair-matched case-control studyDavor Eterovic
Department of Physiology and Biophysics, Medical School at Split, Croatia
Clin Appl Thromb Hemost 13:188-93. 2007It was suggested that factor V Leiden and prothrombin G20210A mutations increase the risk of ischemic stroke only in combination with clinical risk factors of arterial ischemic disease...
The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or bothI Martinelli
Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, IRCCS Maggiore Hospital, University of Milan, Italy
Br J Haematol 111:1223-9. 2000b>Factor V Leiden and the G20210A mutation in the prothrombin gene are the most frequent abnormalities associated with venous thromboembolism. It is unknown whether the risks due to the presence of either mutation are of the same magnitude...
Factor V Leiden and prothrombin gene G 20210 A variant in children with ischemic strokeW Zenz
Department of Pediatrics, University of Graz, Austria
Thromb Haemost 80:763-6. 1998To investigate if the factor V Leiden mutation (F-V-LM) and/or the prothrombin gene G 20210 A variant (P-G20210A-V) are risk factors for acute stroke in Austrian children.
The O blood group protects against venous thromboembolism in individuals with the factor V Leiden but not the prothrombin (factor II G20210A) mutationA J González Ordóñez
Hematology Department, Hospital S Agustín, Aviles, Spain
Blood Coagul Fibrinolysis 10:303-7. 1999We investigated the influence of the ABO blood group in the observed prevalences of the recently described factor V R506Q and factor II G20210A mutations in a thrombotic population...
Analysis of the factor V Leiden mutation using the READIT AssayR B Rhodes
University of Minnesota, Minneapolis, MN, USA
Mol Diagn 6:55-61. 2001..We show the application of a novel SNP scoring tool for analysis of the factor V Leiden mutation. METHODS AND RESULTS: We have developed a novel method for analyzing SNPs...
Population genetics of factor V Leiden in EuropeG Lucotte
International Institute of Anthropology, 1 place d Iéna, Paris 16ème, France
Blood Cells Mol Dis 27:362-7. 2001..originating from 26 geographically defined populations in Europe and neighboring countries for the presence of factor V Leiden, an important genetic risk factor in venous thromboembolism...
Aortic arch thrombosis in a neonate with heterozygous carrier status of factor V Leiden mutationTuuli Metsvaht
Clinic of Anesthesiology and Intensive Care, Tartu University Clinics, Tartu, Estonia
Congenit Heart Dis 1:40-5. 2006..Heterozygous carrier status of the factor V Leiden mutation was diagnosed as a single prothrombotic risk factor...
Factor V Leiden mutation in venous thrombosis in southeast TurkeySevgi Kalkanli
Department of Medical Genetic Biology, University of Dicle, Diyarbakir, Turkey
Angiology 57:193-6. 2006..b>Factor V Leiden mutation (G1691A) (FVL) is the most common risk factor in venous thrombosis...
Association of factor V gene polymorphisms (Leiden; Cambridge; Hong Kong and HR2 haplotype) with recurrent idiopathic pregnancy loss in Tunisia. A case-control studyWalid Zammiti
Research Unit of Haematological and Autoimmune Diseases, Faculty of Pharmacy, Monastir, Center University, Tunisia
Thromb Haemost 95:612-7. 2006..We performed a case-control study on the association between thrombosis-related polymorphisms in the factor V (FV) gene (Leiden, Cambridge, Hong Kong; HR2 haplotype) and idiopathic recurrent pregnancy loss (RPL) in Tunisian ..
The prevalence of factor V Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with beta-thalassemia majorSuleimman A Al-Sweedan
Department of Pediatrics, Jordan University of Science and Technology, Irbid, Jordan
Blood Coagul Fibrinolysis 20:675-8. 2009One hundred beta-thalassemia major (beta-TM) patients and 100 individuals as control were included. Factor V Leiden and prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) gene mutations were genotyped by PCR and allele-..
Impact of thrombophilic genetic factors on pulmonary embolism: early onset and recurrent incidencesPetar Ivanov
Department of Biochemistry, University of Medicine, 1, St Kliment Ohridski Str, Pleven, 5800, Bulgaria
Lung 186:27-36. 2008..b>Factor V Leiden (FVL), prothrombin gene mutation G20210A (FII G20210), genetic variant C677T of the ..
Hyperhomocysteinemia and other newly recognized inherited coagulation disorders (factor V Leiden and prothrombin gene mutation) in patients with idiopathic cerebral vein thrombosisPaolo Ventura
Department of Internal Medicine, University of Modena and Reggio Emilia, Italy
Cerebrovasc Dis 17:153-9. 2004..New, inherited - factor V Leiden (FVL) and prothrombin gene mutation (PTHRA20210) - and inherited/acquired - hyperhomocysteinemia (HHcy) - ..
The contribution of inherited and acquired thrombophilic defects, alone or combined with antiphospholipid antibodies, to venous and arterial thromboembolism in patients with systemic lupus erythematosusJan Leendert P Brouwer
Division of Haemostasis, Thrombosis and Rheology, Department of Hematology, University Hospital Groningen The Netherlands
Blood 104:143-8. 2004..We assessed the contribution of deficiencies of antithrombin, protein C, total protein S, factor V Leiden, the prothrombin G20210A mutation and APC resistance, either alone or in various combinations with LA and/..
Are patients with thrombophilia and previous venous thromboembolism at higher risk to arterial thrombosis?Birgit Linnemann
Division of Vascular Medicine, Department of Internal Medicine, Johann Wolfgang Goethe University Hospital, Theodor Stern Kai 7 D 60590 Frankfurt Main, Germany
Thromb Res 121:743-50. 2008..Whether thrombophilic disorders, which are established risk factors for venous thromboembolism (VTE), also increase the risk of arterial thrombosis is still unknown...
Inherited thrombophilic abnormalities and risk of portal vein thrombosis. a meta-analysisFrancesco Dentali
Department of Clinical Medicine, University of Insubria, Viale Borri 57, Varese, 21100, Italy
Thromb Haemost 99:675-82. 2008..It was the purpose of this study to assess the risk of PVT associated with factor V Leiden (FVL) and G20210A prothrombin mutation (PTM)...
The epidemiology of venous thromboembolism in Caucasians and African-Americans: the GATE StudyN F Dowling
Haematologic Diseases Branch, Division of AIDS, STD, and TB Laboratory Research, National Center for Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, GA, USA
J Thromb Haemost 1:80-7. 2003..Race-adjusted odds ratios for the associations of factor V Leiden and prothrombin G20210A mutations were 3.1 (1.5, 6.7) and 1.9 (0.8, 4.4), respectively...
Effect of hemostatic risk factors on the individual probability of thrombosis during pregnancy and the puerperiumAndrea Gerhardt
Department of Hemostasis and Tansfusion Medicine, Heinrich Heine University Medical Center, Dusseldorf, Germany
Thromb Haemost 90:77-85. 2003..overall risk of 1 in 1500 pregnancies, the probability of pregnancy-related thrombosis in carriers of homozygous factor V Leiden was 1 in 80 (odds ratio 20.6, p=0...
[Genetic determinants of hereditary thrombophilia in pathogenesis of venous thrombosis]S I Kapustin
Ter Arkh 75:78-80. 2003..MATERIAL AND METHODS: Mutations of the genes of factor V (FV Leiden), prothrombin (G20210-A) and polymorphism C677-T in the gene of methylentetrahydrofolate reductase (..
Clinical evaluation of a functional prothrombin time-based assay for identification of factor V Leiden carriers in a group of Italian patients with venous thrombosisGianluca Gessoni
Clinical Pathology Laboratory, Ospedale Civile, Chioggia, Venice, Italy
Blood Coagul Fibrinolysis 18:603-10. 2007The efficiency of a new prothrombin-based activated protein C (APC) resistance test to detect factor V Leiden (FVL) was clinically evaluated in 150 Italian patients with deep venous thrombosis...
Early postoperative obstructive prosthetic mitral valve thrombosis in a patient double heterozygous for factor V Leiden and prothrombin G20210A mutationStefano De Paulis
Dipartimento di Medicina Cardiovascolare, Policlinico A. Gemelli, Catholic University, Largo Gemelli 8, Rome, Italy
Thromb Haemost 99:441-2. 2008
Pregnancy, the postpartum period and prothrombotic defects: risk of venous thrombosis in the MEGA studyE R Pomp
Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands
J Thromb Haemost 6:632-7. 2008..Objective: In the MEGA study, we evaluated pregnancy and the postpartum period as risk factors for venous thrombosis in 285 patients and 857 control subjects...
Thrombosis in inherited factor VII deficiencyG Mariani
Cattedra e Divisione di Ematologia, Universita di Palermo, Palermo University Hospital, Via del Vespro 127, 90127 Palermo, Italy
J Thromb Haemost 1:2153-8. 2003..In particular, severe FVII deficiency did not seem to offer protection from strong thrombosis risk factors such as surgery and replacement therapy...
Molecular analysis of factor V Leiden, factor V Hong Kong, factor II G20210A, methylenetetrahydrofolate reductase C677T, and A1298C mutations related to Turkish thrombosis patientsBilgen Dolek
Department of Molecular Biology and Genetics, Istanbul University, Istanbul, Turkey
Clin Appl Thromb Hemost 13:435-8. 2007..The roles of factor V Hong Kong (FV Hong Kong), factor V Leiden (FV Leiden), factor II G20210A (FII G20210A), methylenetetrahydrofolate ..
Relationship between thrombophilic disorders and type of severe early-onset hypertensive disorder of pregnancyWessel Ganzevoort
Department of Obstetrics and Gynaecology, Academic Medical Centre, Amsterdam, The Netherlands
Hypertens Pregnancy 26:433-45. 2007....
Deep vein thrombosis followed by internal jugular vein thrombosis as a complication of in vitro fertilization in a woman heterozygous for the prothrombin 3' UTR and factor V Leiden mutationsB M C McGowan
Haemophilia and Haemostasis Unit, Department of Haematology, Royal Free and University College Medical School, London, England
Am J Hematol 73:276-8. 2003..We report the case of a 30-year-old woman heterozygous for both the prothrombin 3' UTR mutation and for the factor V Leiden mutation who presented with a proximal deep vein thrombosis following in vitro fertilization...
Risk factors and recurrence rate of primary deep vein thrombosis of the upper extremitiesIda Martinelli
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Dermatology, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Policlinico, University of Milano, Italy
Circulation 110:566-70. 2004..Risk factors for primary upper-extremity DVT are not well established, and the recurrence rate is unknown...
Haemophilia and thrombophilia: an unexpected association!Y Dargaud
Centre Regional de Traitement des Hemophiles, Hopital Edouard Herriot, Lyon, France
Haemophilia 10:319-26. 2004....
Multiple thrombophilic gene mutations rather than specific gene mutations are risk factors for recurrent miscarriageCarolyn B Coulam
Pregnancy Success Center or the Rinehart Center for Reproductive Medicine, Chicago, IL, USA
Am J Reprod Immunol 55:360-8. 2006..We compared the prevalence of 10 thrombophilic gene mutations among women with a history of recurrent miscarriages and fertile control women...
High frequency of thrombophilic disorders in women with recurrent fetal miscarriageL Onderoglu
Department of Obstetrics and Gynecology, Hacettepe University School of Medicine, Ankara, Turkey
Clin Exp Obstet Gynecol 33:50-4. 2006..The rate of Factor V (FV) Leiden mutation, Factor (F) II mutation, protein S, protein C, antithrombin III deficiencies and overall ..
Double heterozygosity for Factor V Leiden and Factor V Cambridge mutations associated with low levels of activated protein C resistance in a Spanish thrombophilic familyAmparo Santamaria
Hemostasis and Thrombosis Unit, Department of Hematology, Hospital de la Santa Creu i Sant Pau, C Sant Antoni Ma Claret, 167, 08025 Barcelona, Spain
Thromb Haemost 93:1193-5. 2005
Inherited thrombophilia is associated with deep vein thrombosis in a Colombian populationJ D Torres
Grupo de Investigacion en Trombosis, Universidad de Antioquia Hospital Universitario San Vicente de Paul, Medellin, Colombia
Am J Hematol 81:933-7. 2006..6/114 controls (OR = 6.08, 95% CI = 2.23-17.47). Ten of 100 patients carried the factor V Leiden mutation vs. 1/114 controls (OR = 12.56, 95% CI = 1.61-267)...
Prothrombin A19911G polymorphism and the risk of venous thromboembolismI Martinelli
Department of Internal Medicine and Medical Specialties, A Bianchi Bonomi Haemophilia and Thrombosis Center, University of Milan, and IRCCS Ospedale Maggiore Policlinico, Mangiagalli and Regina Elena Foundation, Milan, Italy
J Thromb Haemost 4:2582-6. 2006..The A > G polymorphism at position 19911 of the prothrombin gene is associated with increased plasma prothrombin levels but its role as a risk factor for venous thromboembolism (VTE) is not established...
Evaluation of thrombotic children with malignancySelma Unal
Section of Pediatric Hematology, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06100, Ankara, Turkey
Ann Hematol 84:395-9. 2005..Prothrombotic risk factors such as factor V G1691A and prothrombin G20210A mutation, protein C, protein S, antithrombin III deficiencies, factor VIII and ..
Issues concerning the laboratory investigation of inherited thrombophiliaArmando Tripodi
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine and Dermatology, University and IRCCS Maggiore Hospital, Milan, Italy
Mol Diagn 9:181-6. 2005..deficiencies or abnormalities of antithrombin, protein C or protein S; to the presence of a point mutation in the factor V gene (G1691A, factor V Leiden) leading to a poor anticoagulant response to activated protein C; or to the ..
Thrombophilic gene mutations in cirrhotic patients with portal vein thrombosisOzlem Erkan
Institute of Hepatology, Ankara University, Ankara, Turkey
Eur J Gastroenterol Hepatol 17:339-43. 2005..Thrombophilic gene mutations have been reported to be associated with the formation of portal vein thrombosis (PVT). This study aimed to investigate the role of thrombophilic gene mutations in cirrhotic patients with PVT...
Thrombophilia related issues in women and childrenRon Hoffman
Head of Inpatient Hematology Unit, Department of Hematology and Bone Marrow Transplantation, Rambam Medical Center, Bruce Rappaport Faculty of Medicine, Haifa, Israel
Semin Thromb Hemost 31:97-103. 2005..This article will focuses on the clinical association, pathogenesis, and treatment of thrombophilia-related issues in women and children...
Learning from peer assessment: the role of the external quality assurance multilaboratory thrombophilia test processEmmanuel J Favaloro
Haemostasis Laboratories, Department of Haematology, Institute of Clinical Pathology and Medical Research ICPMR, Westmead Hospital, Westmead, New South Wales, Australia
Semin Thromb Hemost 31:85-9. 2005..Testing of some acquired markers of thrombophilia, such as lupus anticoagulant, and genetic tests such as factor V Leiden and prothrombin G20210A mutation, are also available...
The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studiesAntonio Marchiori
Department of Emergency Medicine, St Anthony Hospital, University of Padua, Padua, Italy
Haematologica 92:1107-14. 2007b>Factor V Leiden (FVL) and prothrombin G20210A mutation (PTM) are the two most common genetic polymorphisms known to predispose to a first episode of venous thromboembolism (VTE)...
Multilaboratory testing in thrombophilia through the United Kingdom National External Quality Assessment Scheme (Blood Coagulation) Quality Assurance ProgramIan Jennings
United Kingdom NEQAS Blood Coagulation, Sheffield, United Kingdom
Semin Thromb Hemost 31:66-72. 2005..For protein C (PC) assays 18% of centers reported PC deficiency in a patient homozygous for factor V Leiden...
[Frequency of antiphospholipid antibodies and factor V (G1691A), prothrombin (G20210A) gene polimorphism among women with pregnancy complications]Marcin Rajewski
Pol Arch Med Wewn 115:417-25. 2006..Diagnostic panel include inherited factors like factor V Leiden and prothrombin mutation, activated protein C resistance and acquired like anticardiolipin antibodies, ..
Role of thrombophilia in deciding on the duration of anticoagulationKenneth A Bauer
Veterans Administration Boston Healthcare System and Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02132, USA
Semin Thromb Hemost 30:633-7. 2004..Discovery of the factor V Leiden and prothrombin G20210A mutations has greatly increased the percentage of patients in whom venous ..
A review of the clinical and diagnostic utility of laboratory tests for the detection of congenital thrombophiliaArmando Tripodi
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Department of Internal Medicine, University and IRCCS Maggiore Hospital, Milan, Italy
Semin Thromb Hemost 31:25-32. 2005....
Primary upper-extremity deep vein thrombosis: high prevalence of thrombophilic defectsMariela F Hendler
Departamento de Hemostasia y Trombosis, Instituto de Investigaciones Hematologicas Mariano R Castex, Academia Nacional de Medicina de Buenos Aires, Buenos Aires, Argentina
Am J Hematol 76:330-7. 2004..9% anticardiolipin antibodies). Factor V Leiden (12.9%) and prothrombin G20210A mutation (20%) were the most prevalent genetic risk factors...
Prothrombotic mutations, hormone therapy, and venous thromboembolism among postmenopausal women: impact of the route of estrogen administrationCeline Straczek
INSERM, Cardiovascular Epidemiology Unit, Villejuif, France
Circulation 112:3495-500. 2005..Transdermal estrogen may be safe with respect to VTE. We investigated the impact of the route of estrogen administration on the association between a prothrombotic mutation (factor V Leiden or prothrombin G20210A mutation) and VTE risk.
Markers of activated coagulation in patients with factor V Leiden and/or G20210A prothrombin gene mutationI Gouin-Thibault
Laboratoire d Hematologie, Hopital Charles Foix, 7 av de la République, 94 205, Ivry sur Seine, France
Thromb Res 107:7-11. 2002The activated protein C (APC) resistance phenotype associated with an abnormal factor V Leiden (FVL), and the G20210A prothrombin gene mutation are the most common findings in patients with venous thromboembolism (VTE)...
Hereditary thrombophilia in elite athletesThomas Hilberg
Department of Sports Medicine, Friedrich Schiller University Jena, Jena, Germany
Med Sci Sports Exerc 34:218-21. 2002..Because high-performance sports are known to carry an increased risk of thrombogenesis, measures to avoid thrombosis must be initiated in cases of known hereditary thrombophilia...
Primary thrombophilia in Mexico III: A prospective study of the sticky platelet syndromeGuillermo J Ruiz-Arguelles
Centro de Hematologia y Medicina Interna de puebla, Mexico
Clin Appl Thromb Hemost 8:273-7. 2002..activator inhibitor type 1, IgG and IgM isotypes of anti-phospholipid antibodies, homocysteine levels, the factor V gene Leiden mutation, the 677 C->T mutation in the 5,10-methylen-tetrahydrofolate-reductase (MTHFR), and the ..
Multiple thrombophilic factors in a patient with Budd-Chiari syndromeV Brancaccio
Coagulation Unit, Cardarelli Hospital, Naples, Italy
Clin Lab Haematol 24:61-3. 2002..We report the case of a patient with essential thrombocythemia and Budd-Chiari syndrome in which heterozygosity for both factor V Leiden and the mutation G20210A of the prothrombin gene were identified.
Research Grants
- MOLECULAR BIOLOGY OF HUMAN COAGULATION FACTOR VThomas 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...
- MOLECULAR BIOLOGY OF HUMAN COAGULATION FACTOR VWILLIAM KANE; Fiscal Year: 2009..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...
- NICHD Maternal Fetal Medicine Units NetworkBrian Mercer; Fiscal Year: 2007..fetal pulse oximetry in labor, treatment of mild gestational diabetes, vaginal birth after cesarean, Factor V Leiden mutation carriage)...
- FACTOR VA INTERACTIONS REGULATING PROTHROMBIN ACTIVATIONPaul Bock; Fiscal Year: 2007b>Factor V plays a pivotal role in hemostasis, and in the pathology of venous thrombosis...
- FACTOR VA INTERACTIONS REGULATING PROTHROMBIN ACTIVATIONPaul E Bock; Fiscal Year: 2010b>Factor V plays a pivotal role in hemostasis, and in the pathology of venous thrombosis...
- MOLECULAR BIOLOGY OF HUMAN COAGULATION FACTOR VWILLIAM KANE; Fiscal Year: 2004..that two tryptophans located in a mobile solvent exposed loop play a critical role in high affinity binding of factor V to phospholipid membranes containing low concentrations of phosphatidylserine...
- MOLECULAR BIOLOGY OF HUMAN COAGULATION FACTOR VWILLIAM KANE; Fiscal Year: 2007..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...
- MOLECULAR BIOLOGY OF HUMAN COAGULATION FACTOR VWILLIAM KANE; Fiscal Year: 1993DESCRIPTION: (Adapted from the investigator's abstract). Factor V is a protein cofactor that is essential for the prothrombinase complex. This complex consists of factor Va, factor Xa, calcium, and a phospholipid surface...
- Surrogate markers for Severe Pulmonary EmbolismJEFFREY 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 ..
- Epidemiologic Study of Placental AbruptionCande 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 ..
- Functional Domains of Coagulation Factor VMichael Kalafatis; Fiscal Year: 2007..The procofactor, factor V, does not participate in prothrombinase...
- Thrombin Formation InhibitorsJames Phillips; Fiscal Year: 2004..Generation of DVT is strongly correlated with the function of factor V, a protein cofactor for prothrombinase...
- MUTATIONS, HORMONE THERAPY, AND VENOUS THROMBOEMBOLISMBruce Psaty; Fiscal Year: 2001DESCRIPTION: (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 ..
- PRIMARY STRUCTURE OF PROTHROMBINKenneth Mann; Fiscal Year: 2003b>Factor V is a central participant in the blood clotting process...
- Processed Defining Megakaryocyte Endocytosis of Factor VPAULA TRACY; Fiscal Year: 2005..the rate of thrombin generation, the physiologic effect being demonstrated by the severe hemorrhage observed in factor V deficiency...
- Discovery of antivirals against vaccinia and smallpoxRobert Ricciardi; Fiscal Year: 2003..The approach may help deliver the 'just-in-time' need for reagents to combat a smallpox bioterrorism threat. ..
- COMMON VARIANTS IN CANDIDATE GENES AND PREMATURE MI RISKStephen 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...
