Inherited Thrombophilia: Part 1

From the Sharing Cross and Westminster Medical School, London, UK; 2IRCCS Maggiore Hospital, Milan, Italy; 3Beth Israel Hospital, Boston USA; 4University Hospital Leiden, The Netherlands, 5Research Centre of Medical Genetics, Moscow, The Russian Federation, 6WHO, Switzerland; 7Christian Medical College Hospital, Vellore, India; 8University of Lund, Malmo, Sweden; ’ Institute of Clinical Genetics, Moscow, The Russian Federation; 10Washington University, St Louis, USA; 11 Institute of Thrombosis and Hemostasis, Tel Hashomer, Israel •

[1]  P. Mannucci,et al.  Inherited Thrombophilia*: Part 2 , 1996, Thrombosis and Haemostasis.

[2]  P. Reitsma,et al.  Factor V Leiden (FV R506Q) in Families with Inherited Antithrombin Deficiency , 1996, Thrombosis and Haemostasis.

[3]  N. Dzimiri,et al.  World distribution of factor V Leiden , 1996, The Lancet.

[4]  J. Vandenbroucke,et al.  Enhancement by factor V Leiden mutation of risk of deep-vein thrombosis associated with oral contraceptives containing a third-generation progestagen , 1995, The Lancet.

[5]  M. Aiach,et al.  The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency. , 1995, Blood.

[6]  M. Rowley,et al.  Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy , 1995 .

[7]  H. Hemker,et al.  Peptide Bond Cleavages and Loss of Functional Activity during Inactivation of Factor Va and Factor VaR506Q by Activated Protein C (*) , 1995, The Journal of Biological Chemistry.

[8]  P. Godowski,et al.  Reevaluation of the roles of protein S and gas6 as ligands for the receptor tyrosine kinase Rse/Tyro 3 , 1995, Cell.

[9]  J. Sixma,et al.  Inhibition of the intrinsic factor X activating complex by protein S: evidence for a specific binding of protein S to factor VIII. , 1995, Blood.

[10]  J. Emmerich,et al.  A Review of Mutations Causing Deficiencies of Antithrombin, Protein C and Protein S , 1995, Thrombosis and Haemostasis.

[11]  J. Griffin,et al.  Activated Protein C Resistance: Molecular Mechanisms , 1995, Thrombosis and Haemostasis.

[12]  B. Dahlbäck,et al.  Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease. , 1995, Blood.

[13]  B. Dahlbäck,et al.  Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. , 1995, Blood.

[14]  D. Cooper,et al.  Evidence for a protein S receptor(s) on human vascular smooth muscle cells. Analysis of the binding characteristics and mitogenic properties of protein S on human vascular smooth muscle cells. , 1995, The Biochemical journal.

[15]  H. Azuma,et al.  Congenital deficiency of histidine-rich glycoprotein: failure to identify abnormalities in routine laboratory assays of hemostatic function, immunologic function, and trace elements. , 1995, The Journal of laboratory and clinical medicine.

[16]  P. Reitsma,et al.  Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study) , 1995, Blood.

[17]  P. Reitsma,et al.  Identification of Eight Point Mutations in Protein S Deficiency Type I – Analysis of 15 Pedigrees , 1995, Thrombosis and Haemostasis.

[18]  P. Reitsma,et al.  Protein C Deficiency: A Database of Mutations, 1995 Update , 1995, Thrombosis and Haemostasis.

[19]  H. Blom,et al.  Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis? , 1995, The Lancet.

[20]  P. Ridker,et al.  Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. , 1995, The New England journal of medicine.

[21]  S. Thein,et al.  Factor V Leiden as an independent risk factor for thrombosis in antithrombin deficiency type II: heparin binding site , 1995 .

[22]  P. Reitsma,et al.  High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance) , 1995, Blood.

[23]  K. Mann,et al.  Characterization of the Molecular Defect in Factor VR506A(*) , 1995, The Journal of Biological Chemistry.

[24]  J. Vandenbroucke,et al.  Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis , 1995, The Lancet.

[25]  R. Marlar,et al.  THE FIRST MUTATION IDENTIFIED IN THE THROMBOMODULIN GENE IN A 45-YEAR-OLD MAN PRESENTING WITH THROMBOEMBOLIC DISEASE , 1995 .

[26]  K. Mann,et al.  The mechanism of inactivation of human factor V and human factor Va by activated protein C. , 1994, The Journal of biological chemistry.

[27]  P. Reitsma,et al.  Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. , 1994, Blood.

[28]  J. Griffin,et al.  Variability of Thrombosis among Homozygous Siblings with Resistance to Activated Protein C Due to an Arg-to-Gln Mutation in the Gene for Factor V , 1994 .

[29]  W. Lissens,et al.  Molecular basis for type 1 antithrombin deficiency: identification of two novel point mutations and evidence for a de novo splice site mutation. , 1994, Blood.

[30]  M. Malinow.  Homocyst(e)ine and arterial occlusive diseases , 1994, Journal of internal medicine.

[31]  A. Girolami,et al.  Heterozygous type I plasminogen deficiency is associated with an increased risk for thrombosis: a statistical analysis in 20 kindreds , 1994, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

[32]  P. Reitsma,et al.  Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation , 1994, The Lancet.

[33]  T. Barrowcliffe,et al.  Role of N- and C-terminal amino acids in antithrombin binding to pentasaccharide. , 1994, The Journal of biological chemistry.

[34]  S. Thein,et al.  A polymorphism in the human coagulation factor V gene. , 1994, Human molecular genetics.

[35]  P. Reitsma,et al.  Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. , 1994, Blood.

[36]  M. Aiach,et al.  First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency. , 1994, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

[37]  B. Dahlbäck,et al.  Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor VIIIa. , 1994, The Journal of biological chemistry.

[38]  P. Mannucci,et al.  High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. , 1994, Arteriosclerosis and thrombosis : a journal of vascular biology.

[39]  J. Voorberg,et al.  Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V , 1994, The Lancet.

[40]  B. Dahlbäck,et al.  Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis , 1994, The Lancet.

[41]  P. Reitsma,et al.  Homzygous Protein S Deficiency due to a One Base Pair Deletion that Leads to a Stop Codon in Exon III of the Protein S Gene , 1994, Thrombosis and Haemostasis.

[42]  J. Vandenbroucke,et al.  John Hageman's factor and deep‐vein thrombosis: Leiden Thrombophilia Study , 1994, British journal of haematology.

[43]  B. Evatt,et al.  Activated protein C resistance caused by Arg506Gln mutation in factor Va , 1994, The Lancet.

[44]  Pieter H. Reitsma,et al.  Mutation in blood coagulation factor V associated with resistance to activated protein C , 1994, Nature.

[45]  B. Lämmle,et al.  Thrombotic Risk of Women with Hereditary Antithrombin III-, Protein C- and Protein S-Deficiency Taking Oral Contraceptive Medication , 1994, Thrombosis and Haemostasis.

[46]  J. Griffin,et al.  Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: Patterns revealed by three‐dimensional molecular modelling of mutations of the protease domain , 1994, Proteins.

[47]  José A Fernández,et al.  Protein S binds to and inhibits factor Xa. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[48]  B. Dahlbäck,et al.  Resistance to activated protein C as a basis for venous thrombosis. , 1994, The New England journal of medicine.

[49]  P. Reitsma,et al.  Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. , 1994, The Journal of clinical investigation.

[50]  Tatsuya Hayashi,et al.  Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. , 1994, Blood.

[51]  E. Sacchi,et al.  Resistance to Activated Protein C in Nine Thrombophilic Families: Interference in a Protein S Functional Assay , 1993, Thrombosis and Haemostasis.

[52]  F. Rosendaal,et al.  Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study , 1993, The Lancet.

[53]  J. Griffin,et al.  Anticoagulant protein C pathway defective in majority of thrombophilic patients. , 1993, Blood.

[54]  F. Bernardi,et al.  Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency , 1993, British journal of haematology.

[55]  D. Cooper,et al.  Antithrombin III Mutation Database: First Update , 1993, Thrombosis and Haemostasis.

[56]  R. Tait,et al.  Protein C Activity in Healthy Volunteers - Influence of Age, Sex, Smoking and Oral Contraceptives , 1993, Thrombosis and Haemostasis.

[57]  I. Walker,et al.  Influence of demographic factors on antithrombin III activity in a healthy population , 1993, British journal of haematology.

[58]  C. Esmon.  Molecular Events that Control the Protein C Anticoagulant Pathway , 1993, Thrombosis and Haemostasis.

[59]  A. Wacey,et al.  A molecular model of the serine protease domain of activated protein C: application to the study of missense mutations causing protein C deficiency , 1993, British journal of haematology.

[60]  G. Leone,et al.  Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. , 1993, Biochemistry.

[61]  J. Griffin,et al.  Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C. , 1993, The Journal of biological chemistry.

[62]  F. Rodeghiero,et al.  High levels of histidine-rich glycoprotein and thrombotic diathesis. Report of two unrelated families. , 1993, Thrombosis research.

[63]  P. Bird,et al.  Effects of annexin V on the activity of the anticoagulant proteins C and S. , 1993, Thrombosis research.

[64]  B. Dahlbäck,et al.  Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[65]  P. Reitsma,et al.  Citations from the Literature , 2003 .

[66]  P. Reitsma,et al.  Protein C Deficiency: A Database of Mutations , 1993, Thrombosis and Haemostasis.

[67]  M. Hultin,et al.  Pleiotropic effects of antithrombin strand 1C substitution mutations. , 1992, The Journal of clinical investigation.

[68]  M. Blajchman,et al.  Molecular basis of inherited human antithrombin deficiency , 1992 .

[69]  W. Halbmayer,et al.  The Prevalence of Factor XII Deficiency in 103 Orally Anticoagulated Outpatients Suffering from Recurrent Venous and/or Arterial Thromboembolism , 1992, Thrombosis and Haemostasis.

[70]  R. Bertina,et al.  β2-Glycoprotein I Deficiency and the Risk of Thrombosis , 1992, Thrombosis and Haemostasis.

[71]  L. Cripe,et al.  Structure of the gene for human coagulation factor V. , 1992, Biochemistry.

[72]  C. Esmon.  The protein C anticoagulant pathway. , 1992, Arteriosclerosis and thrombosis : a journal of vascular biology.

[73]  D. Perry,et al.  Antithrombin III: A Database of Mutations , 1991, Thrombosis and Haemostasis.

[74]  P. Reitsma,et al.  A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PSα (PROS1) , 1991 .

[75]  F. Rosendaal,et al.  Mortality related to thrombosis in congenital antithrombin III deficiency , 1991, The Lancet.

[76]  G. Leone,et al.  Mortality related to thrombosis in congenital antithrombin III deficiency , 1991, The Lancet.

[77]  A. Órfão,et al.  Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis , 1991, American journal of hematology.

[78]  D. Hommes,et al.  Mortality in hereditary antithrombin-III deficiency—1830 to 1989 , 1991, The Lancet.

[79]  R. Marlar,et al.  A 5.3-kb deletion including exon XIII of the protein S alpha gene occurs in two protein S-deficient families. , 1991, Blood.

[80]  H. Büller,et al.  Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. , 1990, The New England journal of medicine.

[81]  G. Long,et al.  Organization of the human protein S genes. , 1990, Biochemistry.

[82]  J. Stenflo,et al.  Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization. , 1990, Biochemistry.

[83]  Bertina Rm,et al.  Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing during primate evolution. , 1990 .

[84]  P. Reitsma,et al.  Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460. , 1990, Blood.

[85]  M. Samama,et al.  Thrombosis and Pregnancy in Congenital Deficiencies in AT III, Protein C or Protein S: Study of 78 Women , 1990, Thrombosis and Haemostasis.

[86]  P. Reitsma,et al.  A Mutation in the Protein S Pseudogene Is Linked to Protein S Deficiency in a Thrombophilic Family , 1989, Thrombosis and Haemostasis.

[87]  D. Lane,et al.  Antithrombin: structure, genomic organization, function and inherited deficiency. , 1989, Bailliere's clinical haematology.

[88]  J. Hirsh,et al.  Congenital antithrombin III deficiency. Incidence and clinical features. , 1989, The American journal of medicine.

[89]  U. Abildgaard,et al.  Heparin cofactor IIOslo. Mutation of Arg-189 to His decreases the affinity for dermatan sulfate. , 1989, The Journal of biological chemistry.

[90]  A. Zivelin,et al.  The Relative Frequency of Hereditary Thrombotic Disorders Among 107 Patients with Thrombophilia in Israel , 1989, Thrombosis and Haemostasis.

[91]  P. Callas,et al.  The clinical spectrum of heterozygous protein C deficiency in a large New England kindred. , 1989, Blood.

[92]  P. Reitsma,et al.  Partial protein S gene deletion in a family with hereditary thrombophilia , 1989 .

[93]  P. Reitsma,et al.  Two RFLPS ˜ 7kb 5′ of the human protein C gene , 1988 .

[94]  J. Marrinan,et al.  Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site. , 1988, Biochemistry.

[95]  J. Soria,et al.  Proposed heparin binding site in antithrombin based on arginine 47. A new variant Rouen-II, 47 Arg to Ser. , 1988, The Journal of clinical investigation.

[96]  J. Griffin,et al.  The Frequency of Type I Heterozygous Protein S and Protein C Deficiency in 141 Unrelated Young Patients with Venous Thrombosis , 1988, Thrombosis and Haemostasis.

[97]  T. Barbui,et al.  Different Prevalence of Thromboembolism in the Subtypes of Congenital Antithrombin III Deficiency:Review of 404 Cases , 1987, Thrombosis and Haemostasis.

[98]  C. Kluft,et al.  Familial elevation of plasma histidine‐rich glycoprotein in a family with thrombophilia , 1987, British journal of haematology.

[99]  J. Miletich,et al.  Absence of thrombosis in subjects with heterozygous protein C deficiency. , 1987, The New England journal of medicine.

[100]  E. Davie,et al.  Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats. , 1987, Biochemistry.

[101]  P. Reitsma,et al.  Human protein S cDNA encodes Phe‐16 and Tyr 222 in consensus sequences for the post‐translational processing , 1987, FEBS letters.

[102]  K. Mann,et al.  Complete cDNA and derived amino acid sequence of human factor V. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[103]  R. Bertina,et al.  Hereditary Heparin Cofactor II Deficiency and the Risk of Development of Thrombosis , 1987, Thrombosis and Haemostasis.

[104]  W. Kane,et al.  Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin. , 1986, Proceedings of the National Academy of Sciences of the United States of America.

[105]  G. Crabtree,et al.  Evolution and organization of the human protein C gene. , 1986, Proceedings of the National Academy of Sciences of the United States of America.

[106]  B. Boneu,et al.  CONSTITUTIONAL HEPARIN CO-FACTOR II DEFICIENCY ASSOCIATED WITH RECURRENT THROMBOSIS , 1985, The Lancet.

[107]  G. Crabtree,et al.  The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs. , 1985, Nucleic acids research.

[108]  E. Davie,et al.  The nucleotide sequence of the gene for human protein C. , 1985, Proceedings of the National Academy of Sciences of the United States of America.

[109]  E. Briët,et al.  Hereditary Protein S Deficiency and Venous Thrombo-Embolism , 1985, Thrombosis and Haemostasis.

[110]  J. Griffin,et al.  Plasma protein S deficiency in familial thrombotic disease. , 1984, Blood.

[111]  E. Davie,et al.  Characterization of a cDNA coding for human protein C. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[112]  E. Prochownik,et al.  Isolation of a cDNA clone for human antithrombin III. , 1983, The Journal of biological chemistry.

[113]  M. Skolnick,et al.  Familial Antithrombin III Deficiency: Its Natural History, Genetics, Diagnosis and Treatment , 1983, Medicine.

[114]  V. Kidd,et al.  Isolation and sequence characterization of a cDNA clone of human antithrombin III. , 1983, Proceedings of the National Academy of Sciences of the United States of America.

[115]  R. Lawn,et al.  Cloning and expression of the cDNA for human antithrom, bin III , 1982 .

[116]  J. Griffin,et al.  Deficiency of protein C in congenital thrombotic disease. , 1981, The Journal of clinical investigation.

[117]  K. Lechner,et al.  Antithrombin III deficiency and thromboembolism. , 1981, Clinics in haematology.

[118]  M. Hoylaerts,et al.  Isolation and characterization of a human plasma protein with affinity for the lysine binding sites in plasminogen. Role in the regulation of fibrinolysis and identification as histidine-rich glycoprotein. , 1980, The Journal of biological chemistry.

[119]  O. Egeberg.  Inherited Antithrombin Deficiency Causing Thrombophilia , 1965, Thrombosis and Haemostasis.

[120]  P. Reitsma,et al.  Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. , 1996, The New England journal of medicine.

[121]  B. Dahlbäck.  The protein C anticoagulant system: inherited defects as basis for venous thrombosis. , 1995, Thrombosis research.

[122]  B. Jude,et al.  Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. , 1995, Blood.

[123]  R. Matthews,et al.  A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase , 1995, Nature Genetics.

[124]  M. Samama,et al.  Familial Dysfibrinogenemia and Thrombophilia , 1995, Thrombosis and Haemostasis.

[125]  P. Reitsma,et al.  Prevalence of Protein C Deficiency in the Healthy Population , 1995, Thrombosis and Haemostasis.

[126]  D. Cooper,et al.  Detection and characterization of seven novel protein S (PROS) gene lesions: evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. , 1995, Blood.

[127]  R. Marlar,et al.  The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease. , 1995, Blood.

[128]  S. Thein,et al.  Antithrombin: The Principal Inhibitor of Thrombin , 1994, Seminars in thrombosis and hemostasis.

[129]  S. Thein,et al.  (ATT) trinucleotide repeats in the antithrombin gene and their use in determining the origin of repeated mutations , 1994, Human mutation.

[130]  R. Vervoort,et al.  Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis. , 1994, Blood.

[131]  D. Cooper,et al.  Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single‐strand conformation polymorphism analysis , 1993, Human mutation.

[132]  P. Reitsma,et al.  A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PS alpha (PROS1). , 1991, Nucleic acids research.

[133]  P. Comp.  Laboratory evaluation of protein S status. , 1990, Seminars in thrombosis and hemostasis.

[134]  P. Reitsma,et al.  Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing during primate evolution. , 1990, Biochemistry.

[135]  P. Reitsma,et al.  Partial protein S gene deletion in a family with hereditary thrombophilia. , 1989, Blood.

[136]  E. H. Cohen,et al.  The gene for protein S maps near the centromere of human chromosome 3. , 1988, Blood.

[137]  P. Reitsma,et al.  Two RFLPS approximately 7 kb 5' of the human protein C gene. , 1988, Nucleic acids research.

[138]  G. Long,et al.  Cloning and characterization of human liver cDNA encoding a protein S precursor. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[139]  E. Briët,et al.  THROMBOPHILIA:ITS CAUSES AND A ROUGH ESTIMATE OF ITS PREVALENCE , 1987, Thrombosis and Haemostasis.

[140]  V. Hach-Wunderle,et al.  INCIDENCE OF DEFECTIVE T-PA RELEASE IN 158 UNRELATED YOUNG PATIENTS WITH VENOUS THROMBOSIS IN COMPARISON TO PC-, PS-, AT III-, FIBRINOGEN- AND PLASMINOGENDEFICIENCY , 1987, Thrombosis and Haemostasis.

[141]  I. Balazs,et al.  Assignment of the human antithrombin III structural gene to chromosome 1q23-25. , 1985, Cytogenetics and cell genetics.

[142]  R. Lawn,et al.  Cloning and expression of the cDNA for human antithrombin III. , 1982, Nucleic acids research.