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Thromb Haemost 1997; 77(06): 1201-1214
DOI: 10.1055/s-0038-1656138
Scientific and Standardization Committee Communication
Schattauer GmbH Stuttgart

Protein S Deficiency: A Database of Mutations

For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis
S Gandrille
1   The INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France
,
D Borgel
1   The INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France
,
H Ireland
2   Department of Haematology, Charing Cross 8c Westminster Medical School, London, UK
,
D A Lane
2   Department of Haematology, Charing Cross 8c Westminster Medical School, London, UK
,
R Simmonds
2   Department of Haematology, Charing Cross 8c Westminster Medical School, London, UK
,
P H Reitsma
3   Haemostasis and Thrombosis Research Center, University Hospital Leiden, Leiden, and Laboratory of Experimental Internal Medicine, Academic Medical Center University of Amsterdam, The Netherlands
,
C Mannhalter
4   Department of Laboratory Medicine, Molecular Biology Division and Department of Internal Medicine, Division of Haematology and Blood Coagulation, and Klinische Abteilung für Hämatologie und Hämostaseologie, Allgemeines Krankenhaus der Stadt Wien, Wien, Austria
,
I Pabinger
4   Department of Laboratory Medicine, Molecular Biology Division and Department of Internal Medicine, Division of Haematology and Blood Coagulation, and Klinische Abteilung für Hämatologie und Hämostaseologie, Allgemeines Krankenhaus der Stadt Wien, Wien, Austria
,
H Saito
6   Department of Molecular Pathobiology, Mie University School of Medicine, Mie, Japan
,
K Suzuki
6   Department of Molecular Pathobiology, Mie University School of Medicine, Mie, Japan
,
C Formstone
7   Department of Biochemistry, Imperial College, London, UK
,
D N Cooper
8   Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK
,
Y Espinosa
9   Molecular Genetics Department, Institut de Recerca Oncologica (I.R.O.), Barcelona, Spain
,
N Sala
9   Molecular Genetics Department, Institut de Recerca Oncologica (I.R.O.), Barcelona, Spain
,
F Bernardi
10   Dipartimento Biochimica e Biologia Moleculare, Università degli studi di Ferrara, Ferrara, Italy
,
M Aiach
1   The INSERM U. 428, UFR des Sciences Pharmaceutiques et Biologiques, Paris, France
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12. Juli 2018 (online)

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  • References

  • 1 Fair DS, Marlar RA. Biosynthesis and secretion of factor VII, protein C, protein S and the protein C inhibitor from a human hepatoma cell line. Blood 1986; 67: 64-70
    PubMedSuche in Google Scholar
  • 2 Fair DS, Marlar RA, Levin EG. Human endothelial cells synthesize protein S. Blood 1986; 67: 1168-1171
    PubMedSuche in Google Scholar
  • 3 Stern DM, Brett J, Harris K, Nawroth PP. Participation of endothelial cells in the protein C-Protein S anticoagulant pathway:the synthesis and release of protein S. J Cell Biol 1986; 102: 1971-1978
    CrossrefPubMedSuche in Google Scholar
  • 4 Schwarz HP, Heeb MJ, Wencel-Drake JD, Griffin JH. Identification and quantification of protein S in human platelets. Blood 1985; 66: 1452-1455
    PubMedSuche in Google Scholar
  • 5 Ogura M, Tanabe N, Nishioka J, Suzuki K, Saito H. Biosynthesis and secretion of functional protein S by a human megakaryoblastic cell line (MEG-01). Blood 1987; 70: 301-306
    PubMedSuche in Google Scholar
  • 6 Malm J, He X, Bjartell A, Shen L, Abrahamsson PA, Dahlbäck B. Vitamin K-dependent protein S in Ley dig cells of human testis. Biochem J 1994; 302: 845-850
    CrossrefPubMedSuche in Google Scholar
  • 7 He X, Shen L, Bjartell A, Dahlbäck B. The gene encoding vitamin K-dependent anticoagulant protein S is expressed in multiple rabbit organs as demonstrated by northern blotting, in situ hybridization and immunohisto-chemistry. J Histochem Cytochem 1995; 43: 85-96
    CrossrefPubMedSuche in Google Scholar
  • 8 Walker FJ. Regulation of activated protein C by a new protein. J Biol Chem 1980; 255: 5521-5524
    PubMedSuche in Google Scholar
  • 9 Walker FJ. Regulation of activated protein C by protein S, the role of phospholipid in factor Va inactivation. J Biol Chem 1981; 256: 11128-11131
    PubMedSuche in Google Scholar
  • 10 Walker FJ, Chavin SI, Fay PJ. Inactivation of factor VIII by activated protein C and protein S. Arch Biochem Biophys 1987; 252: 322-328
    CrossrefPubMedSuche in Google Scholar
  • 11 Solymoss S, Tucker MM, Tracy PB. Kinetics of inactivation of membrane-bound factor V by activated protein C. J Biol Chem 1988; 263: 14884-14890
    PubMedSuche in Google Scholar
  • 12 Rosing J, Hoekema L, Nicolae GAF, Thomassen MCLGD, Hemker HC, Varadi K, Schwarz HP, Tans G. Effects of protein S and factor Xa on peptide bond cleavages during inactivation of factor Va and factor VaR506Q by activated protein C. J Biol Chem 1995; 270: 27852-27858
    CrossrefPubMedSuche in Google Scholar
  • 13 Suzuki K, Nishioka J, Matsuda J, Maruyama I, Hashimoto S. Protein S is essential for the activated protein C-catalyzed inactivation of platelet-associated factor Va. J Biochem 1984; 96: 455-460
    CrossrefPubMedSuche in Google Scholar
  • 14 Harris KW, Esmon CT. Protein S is required for bovine platelets to support activated protein C binding and activity. J Biol Chem 1985; 260: 2007-2010
    PubMedSuche in Google Scholar
  • 15 Stem DM, Nawroth PP, Harris KW, Esmon CT. Cultured bovine aortic endothelial cells promote activated protein C-protein S-mediated inactivation of factor Va. J Biol Chem 1986; 261: 713-718
    PubMedSuche in Google Scholar
  • 16 Dahlbäck B, Wiedmer T, Sims PJ. Binding of anticoagulant vitamin K-dependent protein S to platelet derived-microparticles. Biochemistry 1992; 31: 12769-12777
    CrossrefPubMedSuche in Google Scholar
  • 17 Hackeng TM, Hessing M, Van’t VeerC, Meijer-Huizinga F, Meijers JC, de GrootPG, Van MourikJA, Bouma B. Protein S binding to human endothelial cells is required for expression of cofactor activity for activated protein C. J Biol Chem 1993; 268: 3993-4000
    PubMedSuche in Google Scholar
  • 18 Heeb MJ, Mesters RM, Tans G, Rosing J, Griffin JH. Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C. J Biol Chem 1993; 268: 2872-2877
    PubMedSuche in Google Scholar
  • 19 Heeb MJ, Rosing J, Bakker HM, Fernandez JA, Tans G, Griffin JH. protein S binds to and inhibits factor Xa. Proc Natl Acad Sci USA 1994; 91: 2728-2732
    CrossrefPubMedSuche in Google Scholar
  • 20 Hackeng TM, van’t VeerC, Meijers JCM, Bouma BN. Human protein S inhibits prothrombinase complex activity on endothelial cells via a direct interaction of protein S with factor Va and Xa. Evidence for an activated protein C independent anticoagulant function of protein S in plasma. J Biol Chem 1994; 269: 21051-21058
    PubMedSuche in Google Scholar
  • 21 Koppelman SJ, Hackeng TM, Sixma JJ, Bouma BN. Inhibition of the intrinsic factor X activating complex by protein S:evidence for a specific binding of protein S to factor VIII. Blood 1995; 86: 1062-1071
    PubMedSuche in Google Scholar
  • 22 Dahlbäck B, Stenflo J. High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein. Proc Natl Acad Sci USA 1981; 78: 2512-2516
    CrossrefPubMedSuche in Google Scholar
  • 23 Dahlbäck B. Inhibition of protein Ca cofactor function of human and bovine protein S by C4b-binding protein. J Biol Chem 1986; 261: 12022-12027
    PubMedSuche in Google Scholar
  • 24 Hillarp A, Dahlbäck B. Novel subunit in C4b-binding protein required for protein S binding. J Biol Chem 1988; 263: 12759-12764
    PubMedSuche in Google Scholar
  • 25 Hillarp A, Hessing M, Dahlbäck B. Protein S binding in relation to the subunit composition of human C4b-binding protein. FEBS Letters 1989; 259: 53-56
    CrossrefPubMedSuche in Google Scholar
  • 26 Dahlbäck B. Protein S and C4b-binding protein:components involved in the regulation of the protein C anticoagulant system. Thromb Haemost 1991; 66: 49-61
    Thieme ConnectPubMedSuche in Google Scholar
  • 27 Dahlbäck B. Purification of human C4b-binding protein and formation of its complex with vitamin K-dependent protein S. Biochem J 1983; 209: 847-856
    CrossrefPubMedSuche in Google Scholar
  • 28 Nelson RM, Long GL. Solution-phase equilibrium binding interaction of human protein S with C4b-binding protein. Biochemistry 1991; 30: 2384-2390
    CrossrefPubMedSuche in Google Scholar
  • 29 Nelson RM, Long GL. Binding of protein S to C4b-binding protein. Mutagenesis of protein S. J Biol Chem 1992; 267: 8140-8145
    PubMedSuche in Google Scholar
  • 30 Dahlbäck B, Smith CA, Müller-Eberhard HJ. Visualization of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b. Proc Natl Acad Sci USA 1983; 80: 3461-3465
    CrossrefPubMedSuche in Google Scholar
  • 31 Dahlbäck B, Frohm B, Nelsestuen G. High affinity interaction between C4b-binding protein and vitamin K-dependent protein S in the presence of calcium. J Biol Chem 1990; 265: 16082-16087
    PubMedSuche in Google Scholar
  • 32 Schwalbe RA, Dahlbäck B, Hillarp A, Nelsestuen GL. Assembly of protein S and C4b-binding protein on membranes. J Biol Chem 1990; 265: 16074-16081
    PubMedSuche in Google Scholar
  • 33 Griffin JH, Gruber A, Fernandez J. Reevaluation of total, free and bound protein S and C4b-binding protein levels in plasma anticoagulated by citrate or hirudin. Blood 1992; 79: 3203-3211
    PubMedSuche in Google Scholar
  • 34 Garcia deFrutos P, Alim RIM, Härdig Y, Zöller B, Dahlbäck B. Differential regulation of αand βchains of C4b-binding protein during acute-phase response resulting in stable plasma levels of free anticoagulant protein S. Blood 1994; 84: 815-822
    PubMedSuche in Google Scholar
  • 35 Dahlbäck B, Lundwall A, Stenflo J. Primary structure of bovine vitamin K-dependent protein S. Proc Natl Acad Sci USA 1986; 83: 4199-4203
    CrossrefPubMedSuche in Google Scholar
  • 36 Lundwall A, Dackowski WR, Cohen EH, Shaffer M, Mahr A, Dahlbäck B, Stenflo J, Wydro RM. Isolation and sequence of the cDNA of human protein S, a regulator of blood coagulation. Proc Natl Acad Sci USA 1986; 83: 6716-6720
    CrossrefPubMedSuche in Google Scholar
  • 37 Hoskins J, Norman DK, Beckmann RJ, Long GL. Cloning and characterization of human liver cDNA encoding a protein S precursor. Proc Natl Acad Sci USA 1987; 84: 349-353
    CrossrefPubMedSuche in Google Scholar
  • 38 Ploos vanAmstel HK, van derZandenAL, Reitsma PH, Bertina RM. Human protein S cDNA encodes Phe -16 and Tyr 222 in the consensus sequence for the posttranslational processing. FEBS Letters 1987; 22: 186-190
    PubMedSuche in Google Scholar
  • 39 Nelsestuen GL, Kisiel W, Discipio RG. Interaction of vitamin K dependent proteins with membranes. Biochemistry 1978; 17: 2134-2138
    CrossrefPubMedSuche in Google Scholar
  • 40 Schwalbe RA, Ryan J, Stern DM, Kisiel W, Dahlbäck B, Nelsestuen GL. Protein structural requirements and properties of membrane binding by γ-carboxyglutamic acid-containing plasma proteins and peptides. J Biol Chem 1989; 264: 20288-20296
    PubMedSuche in Google Scholar
  • 41 Meijer-Huizinga F, Mertens K, van MourikJA. Isolation and characterization of single-chain protein S. Thromb Haemost 1994; 72: 408-414
    Thieme ConnectPubMedSuche in Google Scholar
  • 42 Chang GTG, Aaldering L, Hackeng TM, Reitsma PH, Bertina RM, Bouma BN. Construction and characterization of thrombin-resistant variants of recombinant human protein S. Thromb Haemost 1994; 72: 693-697
    Thieme ConnectPubMedSuche in Google Scholar
  • 43 Suzuki K, Nishioka J, Hashimoto S. Regulation of activated protein C by thrombin-modified protein S. J Biochem 1983; 94: 699-705
    CrossrefPubMedSuche in Google Scholar
  • 44 Walker FJ. Regulation of vitamin K-dependent protein S. Inactivation with thrombin. J Biol Chem 1984; 259: 10335-10339
    PubMedSuche in Google Scholar
  • 45 Dahlbäck B, Hildebrand B, Malm J. Characterization of functionally important domains in human vitamin K-dependent protein S using monoclonal antibodies. J Biol Chem 1990; 265: 8127-8135
    PubMedSuche in Google Scholar
  • 46 Gershagen S, Fernlund P, Edenbrandt CM. The genes for SHBG/ABP and the SHBG-like region of vitamin K-dependent protein S have evolved from a common ancestral gene. J Steroid Biochem Mol Biol 1991; 40: 763-769
    CrossrefPubMedSuche in Google Scholar
  • 47 Gershagen S, Fernlund P, Lundwall A. A cDNA coding for human sex hormon binding globulin. Homology to vitamin K-dependent protein. FEBS Lett 1987; 220: 129-135
    CrossrefPubMedSuche in Google Scholar
  • 48 Baker ME, French FS, Joseph DR. Vitamin K-dependent protein S is similar to androgen-binding protein. Biochem 1987; 243: 293-297
    CrossrefPubMedSuche in Google Scholar
  • 49 Nelson RM, Long GL. Binding of protein S to C4b-binding protein. Mutagenesis of protein S. J Biol Chem 1992; 267: 8140-8145
    PubMedSuche in Google Scholar
  • 50 Fernandez JA, Heeb MJ, Griffin JH. Identification of residues 413-433 of plasma protein S are essential for binding to C4b-binding protein. J Biol Chem 1993; 268: 16788-16794
    PubMedSuche in Google Scholar
  • 51 Fernandez JA, Griffin JH. A protein S binding site on C4b-binding protein involves βchain residues 31-45. J Biol Chem 1994; 269: 2535-2540
    PubMedSuche in Google Scholar
  • 52 Chang GTG, Maas BHA, Ploos vanAmstel HK, Reitsma PH, Bertina RM, Bouma BN. Studies of the interaction between human protein S and human C4b-binding protein using deletion variants of recombinant protein S. Thromb Haemost 1994; 71: 461-467
    Thieme ConnectPubMedSuche in Google Scholar
  • 53 Schmidel DK, Tatro AV, Tomczak JA, Long GL. Organization of the human protein S genes. Biochemistry 1990; 29: 7845-7852
    CrossrefPubMedSuche in Google Scholar
  • 54 Ploos vanAmstel HK, Reitsma PH, van derLogt PE, Bertina RM. Intronexon organization of the active human protein S gene PSαand its pseudogene PSβ:duplication and silencing during primate evolution. Biochemistry 1990; 29: 7853-7861
    CrossrefPubMedSuche in Google Scholar
  • 55 Edenbrandt CM, Lundwall A, Wydro R, Stenflo J. Molecular analysis of the gene for vitamin K dependent protein S and its pseudogene. Cloning and partial gene organization. Biochemistry 1990; 29: 7861-7868
    CrossrefPubMedSuche in Google Scholar
  • 56 Ploos vanAmstel JK, van derZanden AL, Bakker E, Reitsma PH, Bertina RM. Two genes homologous with human protein S cDNA are located on chromosome 3. Thromb Haemost 1987; 58: 982-987
    Thieme ConnectPubMedSuche in Google Scholar
  • 57 Watkins P, Eddy R, Fukushima Y, Byers M, Cohen E, Dackowski W, Wydro R, Shows T. The gene for protein S maps near the centromer of human chromosome 3. Blood 1988; 71: 238-241
    PubMedSuche in Google Scholar
  • 58 Long GL, Marshall A, Gardner JC, Naylor SL. Genes for human vitamin K-dependent plasma proteins C and S are located on chromosome 2 and 3, respectively. Somat Cell Mol Genet 1988; 14: 93-98
    CrossrefPubMedSuche in Google Scholar
  • 59 Ploos vanAmstel HK, Reitsma PH, Hamulyak K, de Die-SmuldersCEM, Mannucci PM, Bertina RM. A mutation in the protein S pseudogene is linked to protein S deficiency in a thrombophilic family. Thromb Haemost 1989; 62: 897-901
    Thieme ConnectPubMedSuche in Google Scholar
  • 60 Ploos vanAmstel JK, Reitsma PH, Bertina RM. The human protein S locus:identification of the PSαgene as a site of liver-protein S messenger RNA synthesis. Biochem Biophys Res Commun 1988; 157: 1033-1038
    CrossrefPubMedSuche in Google Scholar
  • 61 Reitsma PH, Ploos vanAmstel HK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-492
    CrossrefPubMedSuche in Google Scholar
  • 62 Hall AJ, Peake IR, Winship PR. Identification of multiple elements regulating transcription of the protein S gene. Thromb Haemost 1995; 73: 1257 (abstract 1368)
    PubMedSuche in Google Scholar
  • 63 Diepstraten CM, Ploos vanAmstel JK, Reitsma PH, Bertina RM. A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PSα(PROS1). Nucl Acids Res 1991; 19: 5091
    PubMedSuche in Google Scholar
  • 64 Bertina RM, Ploos vanAmstel HK, van WijngaardenA, Coenen J, Leemhuis MP, Deutz-Terlow PP, van derLindenIK, Reitsma PH. Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460. Blood 1990; 76: 538-548
    PubMedSuche in Google Scholar
  • 65 He X, Dahlbäck B. Molecular cloning, expression and functional characterization of rabbit anticoagulant vitamin K-dependent protein S. Eur J Biochem 1993; 217: 857-865
    CrossrefPubMedSuche in Google Scholar
  • 66 Chu MD, Sun J, Bird P. Cloning and sequencing of a cDNA encoding the murine vitamin K-dependent protein S. Biochem Biophys Acta 1994; 1217: 325-328
    CrossrefPubMedSuche in Google Scholar
  • 67 Yasuda F, Hayashi T, Tanitame K, Nishioka J, Suzuki K. Molecular cloning and characterization of rat plasma protein S. J Biochem 1995; 117: 374-383
    CrossrefPubMedSuche in Google Scholar
  • 68 Greengard JS, Fernandez JA, Radtke KP, Griffin JH. Identification of candidate residues for interaction of protein S with C4b-binding protein and activated protein C. Biochem J 1995; 305: 397-403
    CrossrefPubMedSuche in Google Scholar
  • 69 Comp PC, Esmon CT. Recurrent thromboembolism in patients with a partial deficiency of protein S. New Engl J Med 1984; 311: 1525-1528
    CrossrefPubMedSuche in Google Scholar
  • 70 Comp PC, Nixon RR, Cooper MR, Esmon CT. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984; 74: 2082-2088
    CrossrefPubMedSuche in Google Scholar
  • 71 Schwarz HP, Fischer M, Hopmeier P, Batard MA, Griffin JH. Plasma protein S deficiency in familial thrombotic disease. Blood 1984; 64: 1297-1300
    PubMedSuche in Google Scholar
  • 72 Broekmans AW, Bertina RM, Reinalda PootJ, Engesser L, Muller HP, Leeuw JA, Michiels JJ, Brommer EJ, Briët E. Hereditary protein S deficiency and venous thromboembolism. A study in three Dutch families. Thromb Haemost 1985; 53: 273-277
    Thieme ConnectPubMedSuche in Google Scholar
  • 73 Bertina RM. Hereditary protein S deficiency. Haemostasis 1985; 15: 241-246
    PubMedSuche in Google Scholar
  • 74 Comp PC, Doray D, Patton D, Esmon CT. An abnormal plasma distribution of protein S occurs in functional protein S deficiency. Blood 1986; 67: 504-508
    PubMedSuche in Google Scholar
  • 75 Kamiya T, Sugihara T, Ogata K, Saito H, Suzuki K, Nishioka J, Hashimoto S, Yamagata K. Inherited deficiency of protein S in a Japanese family with recurrent venous thrombosis;a study of three generations. Blood 1986; 67: 406-410
    PubMedSuche in Google Scholar
  • 76 Boyer-Neumann C, Wolf M, Amiral J, Guyader AM, Meyer D, Larrieu MJ. Familial type I protein S deficiency associated with severe venous thrombosis – a study of five cases. Thromb Haemost 1988; 60: 128
    Thieme ConnectPubMedSuche in Google Scholar
  • 77 Schwarz HP, Heeb MJ, Lottenberg R, Roberts H, Griffin JH. Familial protein S deficiency with a variant protein S molecule in plasma and platelets. Blood 1989; 74: 213-221
    PubMedSuche in Google Scholar
  • 78 Mannucci PM, Valsecchi C, Krashmalnicoff A, Faioni EM, Tripodi A. Familial dysfunction of protein S. Thromb Haemost 1989; 62: 763-766
    Thieme ConnectPubMedSuche in Google Scholar
  • 79 Chafa O, Fischer AM, Meriane F, Chellali F, Rahal S, Sternberg C, Benabadji M. A new case of ‘type II’inherited protein S deficiency. Br J Haematol 1989; 73: 501-505
    CrossrefPubMedSuche in Google Scholar
  • 80 Allaart RC, Aronson DC, Ruys T, Rosendaal FR, van BockelJH, Bertina RM, Briët E. Hereditary protein S deficiency in young adults with arterial occlusive disease. Thromb Haemost 1990; 64: 206-210
    Thieme ConnectPubMedSuche in Google Scholar
  • 81 Mannucci PM, Tripodi A, Bertina RM. Protein S deficiency associated with “juvenile”arterial and venous thrombosis. Thromb Haemost 1986; 55: 440
    Thieme ConnectPubMedSuche in Google Scholar
  • 82 Girolami A, Simioni P, Lazzaro AR, Cordiano I. Severe arterial cerebral thrombosis in a patient with protein S deficiency (moderately reduced total and markedly reduced free protein S):a family study. Thromb Haemost 1989; 61: 144-147
    Thieme ConnectPubMedSuche in Google Scholar
  • 83 Mahasandana C, Suvatte V, Marlar RA, Manco-Johnson MJ, Jacobson LJ, Hathaway WE. Neonatal purpura fulminans associated with homozygous protein S deficiency. Lancet 1990; 335: 61-62
    PubMedSuche in Google Scholar
  • 84 Pegelow CH, Ledford M, Young J, Zilleruelo G. Severe protein S deficiency in a newborn. Pediatrics 1992; 89: 674-676
    PubMedSuche in Google Scholar
  • 85 Bertina RM. Prevalence of hereditary thrombophilia and the identification of genetic risk factors. Fibrinolysis 1988; 2 (Suppl. 02) 7-13
    PubMedSuche in Google Scholar
  • 86 Broekmans AW, Van derLindenIK, Jansen-Koeter Y, Bertina RM. Prevalence of protein C (PC) and protein S (PS) deficiency in patients with thromboembolic disease. Thromb Res. 1986. suppl 6 135a
    Suche in Google Scholar
  • 87 Koster T, Rosendaal FR, Briët E, Vandermeer FJM, Colly LP, Trienekens PH, Poort SR, Reitsma PH, Vandenbroucke JP. Protein C deficiency in a controlled series of unselected outpatients:an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study). Blood 1995; 85: 2756-2761
    PubMedSuche in Google Scholar
  • 88 Gladson CL, Scharrer I, Hach V, Beck KH, Griffin JH. The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis. Thromb Haemost 1988; 59: 18-22
    Thieme ConnectPubMedSuche in Google Scholar
  • 89 Ben-Tal O, Zivelin A, Seligsohn U. The relative frequency of hereditary thrombotic disorders among 107 patients with thrombophilia in Israël. Thromb Haemost 1989; 61: 50-54
    Thieme ConnectPubMedSuche in Google Scholar
  • 90 Heijboer H, Brandjes D, Büller HR, Sturk A, Ten CateJW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. New Engl J Med 1990; 323: 1512-1516
    CrossrefPubMedSuche in Google Scholar
  • 91 Comp PC, Thumau GR, Welsh J, Esmon CT. Functional and immunological protein S levels are decreased during pregnancy. Blood 1986; 68: 881-885
    PubMedSuche in Google Scholar
  • 92 Takayashi H, Wada K, Hayashi S, Hanano M, Tatewaki W, Shibata A. Behavior of protein S during long-term oral anticoagulant therapy. Thromb Res 1988; 51: 241
    CrossrefPubMedSuche in Google Scholar
  • 93 Vigano-d’Angelo S, D’Angelo A, Kaufman MJ, Sholer C, Esmon CT, Comp PC. Protein S deficiency occurs in the nephrotic syndrome. Ann Intern Med 1987; 107: 42-47
    CrossrefPubMedSuche in Google Scholar
  • 94 D’Angelo A, Vigano-d’Angelo S, Esmon CT, Comp PC. Acquired deficiency of protein S. Protein S activity during oral anticoagulation, in liver disease, and in disseminated intrayascular coagulation. J Clin Invest 1988; 81: 1445-1454
    CrossrefPubMedSuche in Google Scholar
  • 95 Malm J, Bennhagen R, Holmberg L, Dahlbäck B. Plasma concentration of C4b-binding protein and vitamin K-dependent protein S in term and preterm infants:low levels of protein S-C4b-binding protein complexes. BrJ Haematol 1988; 68: 445-449
    CrossrefPubMedSuche in Google Scholar
  • 96 Malm J, Laurell M, Dahlbäck B. Changes in th plasma levels of vitamin K-dependent proteins C and S and of C4b-binding protein during pregnancy and oral contraception. Br J Haematol 1988; 68: 437-443
    CrossrefPubMedSuche in Google Scholar
  • 97 Takahashi H, Tatewaki W, Wada K, Shibata A. plasma protein S in disseminated intravascular coagulation, liver disease, collagen disease, diabetes mellitus, and under anticoagulant therapy. Clin Chim acta 1989; 182: 195-208
    CrossrefPubMedSuche in Google Scholar
  • 98 Comp PC. Laboratory evaluation of protein S status. Semin Thromb Haemostas 1990; 16: 177-181
    Thieme ConnectPubMedSuche in Google Scholar
  • 99 Lauer CG, Reid III TJ, Wideman CS, Evatt BL, Alving BM. Free protein S deficiency in a family with venous thrombosis. J Vase Surg 1990; 12: 541-544
    CrossrefPubMedSuche in Google Scholar
  • 100 Iijima K, Inoue N, Nakamura K, Fukuda C, Ohgi S, Okada M, Mori T, Nishioka J, Hayashi T, Suzuki K. Inherited deficiency of functional and free form protein S. Acta Haematol Jpn 1989; 52: 126-133
    PubMedSuche in Google Scholar
  • 101 Zöller B, Garcia deFrutos P, Dahlbäck B. 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. Blood 1995; 85: 3524-3531
    PubMedSuche in Google Scholar
  • 102 Gouault-Heilmann M, Leroy-Matheron C, Levent M. Inherited protein S deficiency:clinical manifestations and laboratory findings in 63 patients. Thromb Res 1994; 76: 269-279
    CrossrefPubMedSuche in Google Scholar
  • 103 Formstone CJ, Wacey Al, Berg LP, Rahman S, Bevan D, Rowley M, Voke J, Bernardi F, Legnani C, Simioni P, Girolami A, Tuddenham EGD, Kak-kar VV, Cooper DN. Detection and characterization of seven novel protein S (PROS) gene lesions:evaluation of reverse transcript-polymerase chain reaction as a mutation screening strategy. Blood 1995; 86: 2632-2641
    PubMedSuche in Google Scholar
  • 104 Sacchi E, Pinotti M, Marchetti G, Merati G, Tagliabue L, Mannucci PM, Bernardi B. Protein S mRNA in patients with protein S deficiency. Thromb Haemost 1995; 73: 746-749
    Thieme ConnectPubMedSuche in Google Scholar
  • 105 Ploos vanAmstel HK, Diepstraten CM, Reitsma PH, Bertina RM. Analysis of platelet protein S mRNA suggests silent alleles as a frequent cause of hereditary protein S deficiency type I. Thromb Haemost 1991; 65: 808 (abstract 448)
    PubMedSuche in Google Scholar
  • 106 Reitsma PH, Ploos VanAmstel HK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-492
    CrossrefPubMedSuche in Google Scholar
  • 107 Gomez E, Poort SR, Bertina RM, Reitsma PH. Identification of eight point mutations in protein S deficiency type I – Analysis of 15 pedigrees. Thromb Haemost 1995; 73: 750-755
    Thieme ConnectPubMedSuche in Google Scholar
  • 108 Simmonds RE, Ireland H, Kunz G, Lane DA. and the Protein S Study group Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Blood 1996; 88: 4195-4204
    PubMedSuche in Google Scholar
  • 109 Duchemin J, Borg JY, Borgel D, Vasse M, Lévêque H, Aiach M, Gandrille S. Five novel mutations of the protein S active gene (PROS I) in 8 norman families. Thromb Haemost 1996; 75: 437-444
    Thieme ConnectPubMedSuche in Google Scholar
  • 110 Gandrille S, Borgel D, Eschwege-Gufflet V, Aillaud MF, Dreyfus M, Matheron C, Gaussem P, Abgrall JF, Jude B, Sie P, Toulon P, Aiach M. Identification of 15 different 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. Blood 1995; 85: 130-138
    PubMedSuche in Google Scholar
  • 111 Gomez E, Ledford MR, Pegelow CH, Reitsma PH, Bertina RM. Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene. Thromb Haemost 1994; 71: 723-726
    Thieme ConnectPubMedSuche in Google Scholar
  • 112 Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S. and the French Network INSERM on molecular abnormalities responsible for protein C and protein S deficiencies Molecular basis for protein S (PS) hereditary deficiency:genetic defects observed in 118 patients with type-I (total PS) and type-IIa (free PS) deficiencies. J Lab Clin Med 1996; 128: 218-227
    CrossrefPubMedSuche in Google Scholar
  • 113 Yamazaki T, Katsumi A, Okamoto Y, Takafuta T, Tsuzuki S, Kagami K, Sugiura I, Kojima T, Fujimura K, Saito H. Two distinct novel splice site mutations in a compound heterozygous patient with protein S deficiency. Thromb Haemost 1997; 77: 14-20
    Thieme ConnectPubMedSuche in Google Scholar
  • 114 Okamoto Y, Yamazaki T, Katsumi A, Kojima T, Takamatsu J, Nishida M, Saito H. A novel nonsense mutation associated with an exon skipping in a patient with hereditary protein S deficiency type I. Thromb Haemost 1996; 75: 877-882
    Thieme ConnectPubMedSuche in Google Scholar
  • 115 Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M. First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency. Blood Coag Fibrin 1994; 5: 593-600
    PubMedSuche in Google Scholar
  • 116 Yamazaki T, Sugiura I, Matsushita T, Kojima T, Kagami K, Takamatsu J, Saito H. A phenotypically neutral dimorphism of protein S:the substitution of Lys 155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene. Thromb Res 1993; 70: 395-403
    CrossrefPubMedSuche in Google Scholar
  • 117 Shigekiyo T, Uno Y, Kawauchi S, Saito S, Hondo H, Nishioka J, Hayashi T, Suzuki K. Protein S Tokushima:an abnormal protein S found in a Japanese family with thrombosis. Thromb Haemost 1993; 70: 244-246
    Thieme ConnectPubMedSuche in Google Scholar
  • 118 Hayashi T, Nishioka J, Shigekiyo T, Saito S, Suzuki K. Protein S Tokushima:Abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S. Blood 1994; 83: 683-690
    PubMedSuche in Google Scholar
  • 119 Marchetti TG, Legnani C, Patracchini P, Gemmati D, Ferrati M, Palareti G, Coccheri S, Bernardi F. Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency. Br JHaemat 1993; 85: 173-175
    PubMedSuche in Google Scholar
  • 120 Mustafa S, Pabinger I, Mannhalter C. Protein S deficiency type I:identification of point mutations in 9 of 10 families. Blood 1995; 86: 3444-3451
    PubMedSuche in Google Scholar
  • 121 Espinosa Y, Morell M, Soria JM, Tirado I, Monedero M, Fontcuberta J, Estivill X, Sala N. Identification de tres nuevas mutaciones en el gen PROS1 en familias con trombofilia y deficit congenito de proteina S, tipo I. Sangre 1995; 40 (Suppl. 04) 20 (abstract 047)
    PubMedSuche in Google Scholar
  • 122 Yamazaki T, Katsumi A, Kagami K, Okamoto Y, Sugiura I, Hamaguchi M, Kojima T, Takamatsu J, Saito H. Molecular basis of a hereditary type I protein S deficiency caused by a substitution of Cys for Arg 474. Blood 1996; 87: 4643-4650
    PubMedSuche in Google Scholar
  • 123 Borgel D, Jude B, Aiach M, Gandrille S. First case of sporadic protein S deficiency due to a novel candidate mutation, Ala 484→Pro, in the protein S active gene (PROS1). Thromb Haemost 1996; 75: 883-836
    Thieme ConnectPubMedSuche in Google Scholar
  • 124 Yamazaki T, Hamagushi M, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H. A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA. Thromb Haemost 1995; 74: 590-595
    Thieme ConnectPubMedSuche in Google Scholar
  • 125 Formstone CJ, Hallam PJ, Tuddenham EGD, Voke J, Layton M, Nicolaides K, Hann IM, Cooper DN. Severe perinatal thrombosis in double and triple heterozygous offspring of a family segregating two independent protein S mutations and a protein C mutation. Blood 1996; 87: 3731-3737
    PubMedSuche in Google Scholar
  • 126 Tanimoto M, Matsushita T, Sugiura I, Hamaguchi M, Takamatsu J, Kamiya T, Saito H. Structural gene analysis of a family with protein S deficiency by use of its cDNA probe. Thromb Haemost 1989; 62: 273 (abstract 874)
    PubMedSuche in Google Scholar
  • 127 Schmidel DK, Nelson RM, Broxson EH, Comp PC, Marlar RA, Long GL. A 5.3-kb deletion including exon XIII of the protein S α gene occurs in two protein S deficient families. Blood 1991; 77: 551-559
    PubMedSuche in Google Scholar
  • 128 Ploos vanAmstel HK, Huisman MV, Reitsma PH, ten CateJW, Bertina RM. Partial protein S gene deletion in a family with hereditary thrombophilia. Blood 1989; 73: 479-483
    PubMedSuche in Google Scholar
  • 129 Holmes ZR, Bertina RM, Reitsma PH. Characterization of a large chromosomal deletion in the PROS1 gene of a patient with protein S deficiency type I using long PCR. Br J Haematol 1996; 92: 986-991
    CrossrefPubMedSuche in Google Scholar
  • 130 Tirado I, Llobet D, Soria JM, Martinez E, Murillo J, Urrutia T, Sala N, Fontcuberta J. Molecular analysis of the protein S gene (PSα) in 8 families by Southern-blot. Thromb Haemost 1995; 73: 940 (abstract 160)
    PubMedSuche in Google Scholar
  • 131 Bird AP. CpG-rich islands and the function of DNA methylation. Nature 1986; 321: 209-213
    CrossrefPubMedSuche in Google Scholar
  • 132 Reitsma PH, Bernardi F, Doig RG, Gandrille S, Greengard JS, Ireland H, Krawczak M, Lind B, Long GL, Poort SR, Saito H, Sala N, Witt I, Cooper DN. Protein C deficiency:A database of mutations, 1995 Update. Thromb Haemost 1995; 73: 876-889
    Thieme ConnectPubMedSuche in Google Scholar
  • 133 Diuguid DL, Rabiet MJ, Furie BC, Liebman HA, Furie B. Molecular basis of hemophilia B:a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor. Proc Natl Acad Sci USA 1986; 83: 5803-5807
    CrossrefPubMedSuche in Google Scholar
  • 134 Gandrille S, Alhenc-Gelas M, Gaussem P, Aillaud MF, Dupuy E, Juhan-Vague I, Aiach M. Five novel mutations located in exons III and IX of the protein C gene in patients presenting with defective protein C anticoagulant activity. Blood 1993; 82: 159-168
    PubMedSuche in Google Scholar
  • 135 Faioni EM, Franchi F, Asti D, Sacchi E, Bernardi F, Mannucci PM. Resistance to activated protein C in nine thrombophilic families:interference in a protein S functional assay. Thromb Haemost 1993; 70: 1067-1071
    Thieme ConnectPubMedSuche in Google Scholar
  • 136 Faioni EM, Boyer-Neumann C, Wolf M, Meyer D, Mannucci PM. Another protein S functional assay is sensitive to resistance to activated protein C. Thromb Haemost 1994; 72: 648
    Thieme ConnectPubMedSuche in Google Scholar
  • 137 Cooper PC, Hampton KK, Makris M, Abuzenadah A, Paul B, Preston FE. Further evidence that activated protein C resistance can be misdiagnosed as inherited functional protein S deficiency. Br J Haematol 1994; 88: 201-203
    CrossrefPubMedSuche in Google Scholar
  • 138 Cooper DN, Krawczak M. Human Gene Mutation. Ed: Bios Scientific publishers. 1993. pp 163-230
    Suche in Google Scholar
  • 139 Sala N, Morell M, Tirado I, Espinosa Y, Llobet D, Fontcuberta J, Soria JM, Volpini V, Estivill X. Linkage disequilibrium between the protein S Heerlen allele and protein S deficiency. Thromb Haemost 1995; 73: 1259 (abstract 1374)
    Thieme ConnectPubMedSuche in Google Scholar
  • 140 Duchemin J, Gandrille S, Borgel D, Feurgard P, Alhenc-Gelas M, Matheron C, Dreyfus M, Dupuy E, Juhan-Vague I, Aiach M. The Ser 460 to Pro substitution of the protein S α (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency. Blood 1995; 86: 3436-3443
    PubMedSuche in Google Scholar
  • 141 Espinosa Y, Borrell M, Morell M, Llobet D, Estivill X, Fontcuberta J, Sala N. Analisis de ligamiento entre el gen PROS1 y el deficit de proteina S:exclusion del gen de la PS como responsable del deficit tipo III en dos familias espanolas. Sangre 1995; 40: 20 (abstract 046)
    PubMedSuche in Google Scholar
  • 142 Engesser L, Broekmans AW, Briët E, Brommer EJP, Bertina RM. Hereditary protein S deficiency:clinical manifestations. Ann Int Med 1987; 106: 677-682
    CrossrefPubMedSuche in Google Scholar
  • 143 Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994; 343: 1536-1538
    CrossrefPubMedSuche in Google Scholar
  • 144 Zöller B, Bemtsdotter A, Gar cia, de FrutosP, Dahlbäck B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85: 3518-3523
    PubMedSuche in Google Scholar
  • 145 Zöller B, He X, Dahlbäck B. Homozygous APC-resistance combined with protein S deficiency in a young boy with severe thrombotic disease. Thromb Haemost 1995; 73: 743-745
    Thieme ConnectPubMedSuche in Google Scholar
  • 146 Pabinger I, Mustafa S, Rintelen C, Kyrle PA, Lechner K, Mannhalter C. Factor V (FV) Leiden mutation (APC-resistance) increases the risk for venous thromboembolism in patients with a gene defect of the protein C (PC) or protein S (PS) gene. Thromb Haemost 1995; 73: 1361 (abstract)
    Thieme ConnectPubMedSuche in Google Scholar
  • 147 Gandrille S, Borgel D, Aiach M. and the French network INSERM on “Molecular Abnormalities Responsible for Protein C and Protein S Deficiencies”. Incidence of activated protein C resistance due to Arg 506 Gin mutation in factor V in 116 unrelated propositus from families with protein S deficiency. Thromb Haemost 1995; 73: 1372 (abstract 1810)
    PubMedSuche in Google Scholar
  • 148 Koeleman BPC, van RumpfD, Hamulyak K, Reitsma PH, Bertina RM. Factor V Leiden. An additional risk factor for thrombosis in protein S deficient families ?. Thromb Haemost 1995; 74: 580-583
    Thieme ConnectPubMedSuche in Google Scholar
  • 149 Koeleman BPC, Reitsma PH, Allaart RC, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C deficient families. Blood 1994; 84: 1031-1035
    PubMedSuche in Google Scholar
  • 150 Gandrille S, Greengard JS, Alhenc-Gelas M, Juhan-Vague M, Abgrall JF, Jude B, Griffin JH, Aiach M. Incidence of activated protein C resistance caused by the Arg 506 Gin mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. Blood 1995; 86: 219-224
    PubMedSuche in Google Scholar