Protein S Deficiency

• References

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• 2 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
• 3 Esmon CT, Schwarz HP. An update on clinical and basic aspects of the protein C anticoagulant pathway. Trends Cardiovasc Med 1995; 5: 141-148
• 4 Rosing J, Hoekema L, Nicolaes GAF, Thomassen CLGD, 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 Va^R506Q by activated protein C. J Biol Chem 1995; 270: 27852-27858
• 5 Tans GT, Rosing J, Thomassen MCLGD, Heeb MJ, Zwaal RFA, Griffin JH. Comparison of anticoagulant and procoagulant activities of stimulated platelets and platelet-derived microparticles. Blood 1991; 77: 2641-2648
• 6 Shen L, Dählback B. Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor Villa. J Biol Chem 1994; 269: 18735-18738
• 7 Varadi K, Rosing J, Tans G, Pabinger I, Keil B, Schwarz HP. Factor enhances the cofactor function of protein S in the APC-mediated inactivation of factor VIII: influence of the factor V^R506Q mutation. Thromb Haemost 1996; 76: 208-214
• 8 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
• 9 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
• 10 Van VijnenM, Stam JG, van’t VeerC, Meyers JCM, Reitsma PH, Bertina RM, Bouma BN. The interaction of protein S with the phospholipid surface is essential for the activated protein C-independent activity of protein S. Thromb Haemost 1996; 76: 397-403
• 11 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. 1996; 86: 1062-1071
• 12 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
• 13 Fair DS, Marlar RA, Levin EG. Human endothelial cells synthesize protein S. Blood 1986; 67: 1168-1171
• 14 Schwarz HP, Heeb MJ, Wencel-Drake JD, Griffin JH. Identification and quantification of protein S in human platelets. Blood 1985; 66: 1452-1455
• 15 Stenflo J, Lundwall A, Dahlbäck B. b-hydroxyasparagine in domains homologous to the epidermal growth factor precursor in vitamin K-dependent protein S. Proc Natl Acad Sci USA 1987; 84: 368-372
• 16 Gershagen S, Femlund 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
• 17 Dahlbäck B, Smith CA, Muller-Eberhard HJ. Vizualisation 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
• 18 Fernandez JA, Heeb MJ, Griffin JH. Identification of residues 413433 of plasma protein S as essential for binding to C4b-binding protein. J Biol Chem 1993; 268: 16788-16794
• 19 Sugo T, Dahlbäck B, Holmgren A, Stenflo J. Calcium binding of bovine protein S. J Biol Chem 1986; 261: 5116-5120
• 20 Schwalbe R, Dahlbäck B, Hillarp A, Nelsestuen G. Assembly of protein S and C4b-binding protein on membranes. J Biol Chem 1990; 265: 16074-16081
• 21 Dahlbäck B. Purification of human vitamin K-dependent protein S and its limited proteolysis by thrombin. Biochem J 1983; 209: 837-846
• 22 Walker FJ. Regulation of vitamin K-dependent protein S. Inactivation with thrombin. J Biol Chem 1984; 259: 10335-10339
• 23 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
• 24 He X, Shen L, Dahlbäck B. Expression and functional characterization of chimeras between human and bovine vitamin-K-dependent protein-S-defining modules important for the species specificity of the activated protein C cofactor activity. Eur J Biochem 1995; 227: 433-440
• 25 Dahlbäck B, Hildebrand B, Linse S. Novel type of very high affinity calcium-binding sites in b-hydroxy-asparagine-containing epidermal growth factor-like domains in vitamin K-like domains in vitamin K-dependent protein S. J Biol Chem 1990; 265: 18481-18489
• 26 Handford PA, Mayhew M, Baron M, Winship PR, Campbell ID, Brownlee GG. Key residues involved in calcium-binding motifs in EGF-like domains. Nature 1991; 351: 164-167
• 27 Nelson RM, VanDusen WJ, Friedman PA, Long GL. b-hydroxyaspartic acid and b-hydroxyasparagine residues in recombinant human protein S are not required for anticoagulant cofactor activity or for binding to C4b-binding protein. J Biol Chem 1991; 266: 20586-20589
• 28 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
• 29 Hillarp A, Dahlbäck B. Novel subunit in C4b-binding protein required for protein S binding. J Biol Chem 1988; 263: 12759-12764
• 30 Harding Y, Rezaie A, Dahlbäck B. High affinity binding of human vitamin K-dependent protein S to a truncated recombinant b-chain of C4b binding protein expressed in Escherichia coli. J Biol Chem 1993; 268: 3033-3036
• 31 Harding Y, Dahlbäck B. The amino-terminal module of the C4b-bind-ing protein b-chain contains the protein S-binding site. J Biol Chem 1996; 271: 20861-20867
• 32 Fernandez JA, Villoutreix BO, Hackeng TM, Griffin JH, Bouma BN. Analysis of protein S C4b-binding protein interactions by homology modeling and inhibitory antibodies. Biochemistry 1994; 33: 11073-11078
• 33 Malm J, He XH, Bjartell A, Shen L, Abrahamsson PA, Dahlbäck B. Vitamin K-dependent protein S in Leydig cells of human testis. Biochem J 1994; 302: 845-850
• 34 Dahlbäck B. Purification of human vitamin K-dependent protein S and its limited proteolysis by thrombin. Biochem J 1983; 209: 837-846
• 35 Ohlin AK, Landes G, Bourdon P, Oppenheimer C, Wydro R, Stenflo J. Hydroxyaspartic acid in the first epidermal growth factor-like domain of protein C. J Biol Chem 1988; 263: 19240-19248
• 36 Nishioka J, Suzuki K. Inhibition of cofactor activity of protein S by a complex of protein S and C4b-binding protein. Evidence for inactive ternary complex formation between protein SC4b-binding protein, and activated protein C. J Biol Chem 1990; 265: 9072-9076
• 37 Nelson RM, Long GL. Binding of protein S to C4b-binding protein. Mutagenesis of protein S. J Biol Chem 1992; 267: 8140-8145
• 38 Chang GTG, Ploos vanAmstelHK, Hessing M, Reitsma PH, Bertina RM, Bouma BN. Expression and characterization of recombinant human protein S in heterologous cells. Studies of the interaction of amino acid residues Leu-608 to Glu-612 with human C4b-binding protein. Thromb Haemost 1992; 67: 526-532
• 39 Chang GTG, Maas BHA, Ploos vanAmstelHK, Reitsma PH, Bertina RM, Bouma BN. Studies of the interaction between human protein S and human C4b-binding protein using deletion variants of recombinant human protein S. Thromb Haemost 1994; 71: 461-467
• 40 Walker FJ. Characterization of a synthetic peptide that inhibits the interaction between protein S and C4b-binding protein. J Biol Chem 1989; 264: 17645-17648
• 41 Comp PC, Esmon CT. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Engl J Med 1984; 311: 1525-1528
• 42 Schwartz H, Fischer M, Hopmeier P, Batard MA, Griffin HH. Familial protein S deficiency is associated with recurrent thrombosis. Blood 1984; 64: 1297-1300
• 43 Koster T, Rosendaal FR, Briet E, van derMeerFJM, 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
• 44 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
• 45 Heijboer H, Brandjes PM, Büller HR, Sturk A, ten CateJW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med 1990; 323: 1512-1516
• 46 Pabinger I, Brücker S, Kyrle PA, Schneider B, Kominger HC, Niessner H, Lechner K. Hereditary deficiency of antithrombin ID protein C and protein S: prevalence in patients with a history of venous thrombosis and criteria for rational patient screening. Blood Coag Fibrinol 1992; 3: 547-553
• 47 Zöller B, Bemtsdotter A, Garcia deFrutosP, Dahlbäck B. Resistance to actived protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85: 3518-3523
• 48 Pabinger I, Kyrle PA, Heistinger M, Eichinger S, Wittmann E, Lechner K. The risk of thromboembolism in asymptomatic patients with protein C and protein S deficiency: a prospective cohort study. Thromb Haemost 1994; 71: 441-445
• 49 Pabinger I, Schneider B. Thrombotic risk in hereditary antithrombin protein C or p rotein.S deficiency. A cooperative, retrospective study. Arterioscler, Thromb Vase Biol 1996; 16: 742-748
• 50 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
• 51 Allaart C, Aronson D, Ruys TH, Rosendaal F, Bockel J, Bertina RM, Briet E. Hereditary protein S deficiency in young adults with arterial occlusive disease. Thromb Haemost 1990; 64: 206-210
• 52 Nighoghossian N, Berruyer M, Getenet JC, Trouillas P. Free protein S spectrum in young patients with stroke. Cerebrovasc Dis 1993; 4: 304-308
• 53 Gandrille S, Borgel D, Eschwege-Gufflet V, Aillaud MF, Dreyfus M, Matheron C, Gaussem P, Abgrall JF, Jude B, Sié P, Toulon P, Aiach M. Identification of 15 different candidate causal point mutations and 3 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
• 54 Borgel D, Duchemin J, Alhenc-Gelas M, Matheron C, Aiach M, Gandrille S. Molecular basis for protein S hereditary deficiency: genetic defects observed in 118 patients with type I and type Ha deficiencies. J Lab Clin Med 1996; 128: 218-227
• 55 Simmonds RE, Ireland H, Kunz G, Lane DA. Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis. Blood 1996; 88: 4195-4204
• 56 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
• 57 Comp PC. Laboratory evaluation of protein S status. Semin Thromb Hemost 1990; 16: 177-181
• 58 Comp PC, Doray D, Patton D, Esmon CT. An abnormal plasma distribution of protein S occurs in functional protein S deficiency. Blood 1985; 67: 504-508
• 59 Amiral J, Grosley B, Boyer-Neumann C, Marfaing-Koka A, Peynaud-Debayle E, Wolf M, Meyer D. New direct assay of free protein S antigen using two distinct monoclonal antibodies specific for the free form. Blood Coag Fibrinol 1994; 5: 179-186
• 60 Wolf M, Boyer-Neumann C, Leroy-Matheron C, Martinoli JL, Contant AmiralJ, Meyer D, Lairieu MJ. Functional assay of protein S in patients with congenital and acquired disorders. Blood Coag Fibrinol 1991; 2: 705-712
• 61 Preda L, Tripodi A, Valsecchi C, Lombardi A, Finotto E, Mannucci PM. A prothrombin time-based functional assay of protein S. Thromb Res 1990; 60: 19-32
• 62 Zöller B, Garcia de Frutos P, Dahlbäck B. Evaluation of the relation 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
• 63 Henkens CMA, Bom VJJ, van der Schaaf W, Pelsma PM, Smit SibingaCTH, de Kam PJ, van der Meer J. Plasma levels of protein S protein C, and factor X: effects of sex, hormonal state and age. Thromb Haemost 1995; 74: 1271-1275
• 64 Gari M, Kalkon L, Umitia T, Vallvé C, Borrell M, Fontcuberta J. The influence of low protein S plasma levels in young women, on the definition of normal range. Thromb Res 1995; 73: 149-152
• 65 Boerger LM, Morris PC, Thumau GR, Esmon CT, Comp PC. Oral contraceptives and gender affect protein S status. Blood 1987; 69: 692-694
• 66 Malm J, Laurell M, Dahlbäck B. Changes in the 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
• 67 Falkon L, Gari M, Garcia MoraJL, Calaf J, Rodriguez EspinosaJ, Oliver A, Fontcuberta J. The effect of endogenous oestradiol levels on protein S concentration during a menstrual cycle and after GnRH analogues and gonadotropin therapy. Br J Haematol 1995; 90: 438-441
• 68 Garcia CriadoO, Sanchez-Coiral P, Rodriguez deCordoba S. Isoforms of human C4b-binding protein. II Differential modulation of the C4BPA and C4BPB genes by acute phase cytokines. J Immunol 1995; 155: 4037-4043
• 69 Hooper WC, Phillips DJ, Ribeiro M, Benson J, Evatt BL. IL-6 upregulates protein S expression in the HepG-2 hepatoma cells. Thromb Haemost 1995; 73: 819-824
• 70 de Frutos PG, Alim RIM, Hardig Y, Zöller B, Dahlbäck B. Differential regulation of a and b chains of C4b-binding protein during acute-phase response resulting in stable plasma levels of free anticoagulant protein S. Blood 1994; 84: 815-822
• 71 Sanchez-Corral P, Garcia CO, Rodriguez deCorboda S. Isoforms of human C4b-binding protein.I. Molecular basis for the C4BP isoform pattern and its variations in human plasma. J Immunol 1995; 155: 4030-4036
• 72 Watkins P, Eddy R, Fukushima Y, Byers M, Cohen E, Dackowski W, Wydro R, Shows T. The gene for protein S maps near the centomer of human chromosome 3. Blood 1988; 71: 238-241
• 73 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
• 74 Ploos vanAmstel HK, Reitsma PH, van der Logt PE, Bertina RM. Intron-exon organization of the active human protein S gene PSa and its pseudogene PSb: duplication and silencing during primate evolution. Biochemistry 1990; 29: 7853-7861
• 75 Schmidel DK, Tatro AV, Tomczak JA, Long GL. Organization of the human protein S genes. Biochemistry 1990; 29: 7845-7852
• 76 Reitsma PH, Ploos vanAmstelHK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-492
• 77 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
• 78 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
• 79 Duchemin J, Borg JY, Borgel D, Vasse M, Lévesque H, Aiach M, Gandrille S. Five novel mutations of the protein S active gene (Pros 1) in 8 Norman families. Thromb Haemost 1996; 75: 437-444
• 80 Beauchamp NJ, Daly ME, Cooper PC, Makris M, Preston FE, Peake IR. Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V Leiden. Blood 1996; 88: 1700-1707
• 81 Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S. Two mutations in exon XII of the protein Sa gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA. Thromb Haemost 1996; 76: 143-150
• 82 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
• 83 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
• 84 Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 1988; 85: 7486-7490
• 85 Ploos van Amstel HK, Huisman MV, Reitsma PH, ten Cate JW, Batina RM. Partial protein S gene deletion in a family with hereditary thrombophilia. Blood 1989; 73: 479-483
• 86 Schmidel DK, Nelson RM, Broxson Jr EH, Comp PC, Marlar RA, Long GL. A 5.3-kb deletion including exon XIII of the protein S a gene occurs in two protein S-deficient families. Blood 1991; 77: 551-559
• 87 Holmes ZR, Bertina RM, Reitsma PH. Characterization of a large chromosomal deletion in the PROS 1 gene of a patient with protein S deficiency type I using long PCR. Br J Haematol 1996; 92: 986-991
• 88 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 Sa (PROS1) gene is a frequent mutation associated with free protein S (type Ha) deficiency. Blood 1995; 86: 3436-3443
• 89 Bertina RM, Ploos van Amstel HK, van Wijngaarden A, Coenen J, Leemhuis MP, Deutz-Terlouw PP, van der Linden IK, Reitsma PH. Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460. Blood 1990; 76: 538-548
• 90 Koeleman BPC, Van Rumpt D, 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
• 91 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 with defective protein C anticoagulant activity. Blood 1993; 82: 159-168
• 92 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 domains of protein S. Blood 1994; 83: 683-690
• 93 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