메뉴 건너뛰기




Volumn 102, Issue 12, 2003, Pages 4014-4020

Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 10A; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 7; THROMBIN;

EID: 0344394526     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-04-1199     Document Type: Article
Times cited : (40)

References (43)
  • 1
    • 0029153045 scopus 로고
    • The tissue factor pathway: How it has become a "prima ballerina"
    • Rapaport SI, Rao LV. The tissue factor pathway: how it has become a "prima ballerina." Thromb Haemost. 1995;74:7-17.
    • (1995) Thromb Haemost , vol.74 , pp. 7-17
    • Rapaport, S.I.1    Rao, L.V.2
  • 2
    • 0025769689 scopus 로고
    • The extrinsic pathway inhibitor: A regulator of tissue factor-dependent blood coagulation
    • Rapaport SI. The extrinsic pathway inhibitor: a regulator of tissue factor-dependent blood coagulation. Thromb Haemost. 1991;66:6-15.
    • (1991) Thromb Haemost , vol.66 , pp. 6-15
    • Rapaport, S.I.1
  • 3
    • 0026704809 scopus 로고
    • Regulation of blood coagulation by the protein C system
    • Walker FJ, Fay PJ. Regulation of blood coagulation by the protein C system. Faseb J. 1992;6:2561-2567.
    • (1992) Faseb J , vol.6 , pp. 2561-2567
    • Walker, F.J.1    Fay, P.J.2
  • 4
    • 0036040213 scopus 로고    scopus 로고
    • Factor VII deficiency
    • Perry DJ. Factor VII deficiency. Br J Haematol. 2002;118:689-700.
    • (2002) Br J Haematol , vol.118 , pp. 689-700
    • Perry, D.J.1
  • 6
    • 0033758525 scopus 로고    scopus 로고
    • Recombinant factor VIIa for the treatment of congenital factor VII deficiency
    • Hunault M, Bauer KA. Recombinant factor VIIa for the treatment of congenital factor VII deficiency. Semin Thromb Hemost. 2000;26:401-405
    • (2000) Semin Thromb Hemost , vol.26 , pp. 401-405
    • Hunault, M.1    Bauer, K.A.2
  • 7
    • 0023932377 scopus 로고
    • The human factor VII gene is polymorphic due to variation in repeat copy number in a minisatellite
    • O'Hara PJ, Grant FJ. The human factor VII gene is polymorphic due to variation in repeat copy number in a minisatellite. Gene. 1988;66:147-158.
    • (1988) Gene , vol.66 , pp. 147-158
    • O'Hara, P.J.1    Grant, F.J.2
  • 8
    • 0025860324 scopus 로고
    • A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals
    • Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries S. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscler Thromb. 1991;11:540-546.
    • (1991) Arterioscler Thromb , vol.11 , pp. 540-546
    • Green, F.1    Kelleher, C.2    Wilkes, H.3    Temple, A.4    Meade, T.5    Humphries, S.6
  • 9
    • 0027537854 scopus 로고
    • A polymorphism in the 5′ region of coagulation factor VII gene (F7) caused by an inserted decanucleotide
    • Marchetti G, Patracchini P, Papacchini M, Ferrati M, Bernardi F. A polymorphism in the 5′ region of coagulation factor VII gene (F7) caused by an inserted decanucleotide. Hum Genet. 1993;90:575-576.
    • (1993) Hum Genet , vol.90 , pp. 575-576
    • Marchetti, G.1    Patracchini, P.2    Papacchini, M.3    Ferrati, M.4    Bernardi, F.5
  • 10
    • 0006369656 scopus 로고    scopus 로고
    • Two common functional polymorphisms in the promoter region of the coagulation factor VII gene determining plasma factor VII activity and mass concentration
    • van 't Hooft FM, Silveira A, Tornvall P, et al. Two common functional polymorphisms in the promoter region of the coagulation factor VII gene determining plasma factor VII activity and mass concentration. Blood. 1999;93:3432-3441.
    • (1999) Blood , vol.93 , pp. 3432-3441
    • Van't Hooft, F.M.1    Silveira, A.2    Tornvall, P.3
  • 11
    • 9044243754 scopus 로고    scopus 로고
    • Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma
    • Bernardi F, Marchetti G, Pinotti M, et al. Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma. Arterioscler Thromb Vasc Biol. 1996;16:72-76.
    • (1996) Arterioscler Thromb Vasc Biol , vol.16 , pp. 72-76
    • Bernardi, F.1    Marchetti, G.2    Pinotti, M.3
  • 12
    • 0034210180 scopus 로고    scopus 로고
    • Modulation of factor VII levels by intron 7 polymorphisms: Population and in vitro studies
    • Pinotti M, Toso R, Girelli D, et al. Modulation of factor VII levels by intron 7 polymorphisms: population and in vitro studies. Blood. 2000;95:3423-3428.
    • (2000) Blood , vol.95 , pp. 3423-3428
    • Pinotti, M.1    Toso, R.2    Girelli, D.3
  • 13
    • 0021342225 scopus 로고
    • Regional mapping of clotting factors VII and X to 13q34: Expression of factor VII through chromosome 8
    • de Grouchy J, Dautzenberg MD, Turleau C, Béguin S, Chavin-Colin F, Regional mapping of clotting factors VII and X to 13q34: expression of factor VII through chromosome 8. Hum Genet. 1984;66:230-233.
    • (1984) Hum Genet , vol.66 , pp. 230-233
    • De Grouchy, J.1    Dautzenberg, M.D.2    Turleau, C.3    Béguin, S.4    Chavin-Colin, F.5
  • 14
    • 0022521515 scopus 로고
    • Structural genes of coagulation factors VII and X located on 13q34
    • Gilgenkrantz S, Briquel ME, Andre E, et al. Structural genes of coagulation factors VII and X located on 13q34. Ann Genet. 1986;29:32-35.
    • (1986) Ann Genet , vol.29 , pp. 32-35
    • Gilgenkrantz, S.1    Briquel, M.E.2    Andre, E.3
  • 15
    • 0004330552 scopus 로고
    • Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation
    • O'Hara PJ, Grant FJ, Haldeman BA, et al. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proc Natl Acad Sci U S A. 1987;84:5158-5162.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 5158-5162
    • O'Hara, P.J.1    Grant, F.J.2    Haldeman, B.A.3
  • 16
    • 0027505065 scopus 로고
    • Molecular analysis of factor VII deficiency in Italy: A frequent mutation (FVII Lazio) in a repeated intronic region
    • Bernardi F, Patracchini P, Gemmati D, et al. Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region. Hum Genet. 1993;92:446-450.
    • (1993) Hum Genet , vol.92 , pp. 446-450
    • Bernardi, F.1    Patracchini, P.2    Gemmati, D.3
  • 17
    • 0032170546 scopus 로고    scopus 로고
    • Molecular mechanisms of FVII deficiency: Expression of mutations clustered in the IVS7 donor splice site of factor VII gene
    • Pinotti M, Toso R, Redaelli R, Berrettini M, Marchetti G, Bernardi F. Molecular mechanisms of FVII deficiency: expression of mutations clustered in the IVS7 donor splice site of factor VII gene. Blood. 1998;92:1646-1651.
    • (1998) Blood , vol.92 , pp. 1646-1651
    • Pinotti, M.1    Toso, R.2    Redaelli, R.3    Berrettini, M.4    Marchetti, G.5    Bernardi, F.6
  • 18
    • 0022410305 scopus 로고
    • Hereditary factor VII deficiency: Heterogeneity defined by combined functional and immunochemical analysis
    • Triplett DA, Brandt JT, Batard MA, Dixon JL, Fair DS. Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. Blood. 1985;66:1284-1287.
    • (1985) Blood , vol.66 , pp. 1284-1287
    • Triplett, D.A.1    Brandt, J.T.2    Batard, M.A.3    Dixon, J.L.4    Fair, D.S.5
  • 19
    • 0029820281 scopus 로고    scopus 로고
    • Moderation of hemophilia A phenotype by the factor V R506Q mutation
    • Nichols WC, Amano K, Cacheris PM, et al. Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood. 1996;88:1183-1187.
    • (1996) Blood , vol.88 , pp. 1183-1187
    • Nichols, W.C.1    Amano, K.2    Cacheris, P.M.3
  • 20
    • 0034016852 scopus 로고    scopus 로고
    • Effect of the factor V Leiden mutation on the clinical expression of severe hemophilia A
    • Lee DH, Walker IR, Teitel J, et al. Effect of the factor V Leiden mutation on the clinical expression of severe hemophilia A. Thromb Haemost. 2000;83:387-391.
    • (2000) Thromb Haemost , vol.83 , pp. 387-391
    • Lee, D.H.1    Walker, I.R.2    Teitel, J.3
  • 21
    • 0035129399 scopus 로고    scopus 로고
    • Symptomatic onset of severe hemophilia A in childhood is dependent on the presence of prothrombotic risk factors
    • Escuriola Ettingshausen C, Halimeh S, Kurnik K, et al. Symptomatic onset of severe hemophilia A in childhood is dependent on the presence of prothrombotic risk factors. Thromb Haemost. 2001;85:218-220.
    • (2001) Thromb Haemost , vol.85 , pp. 218-220
    • Escuriola Ettingshausen, C.1    Halimeh, S.2    Kurnik, K.3
  • 22
    • 0036195046 scopus 로고    scopus 로고
    • The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors
    • Tizzano EF, Soria JM, Coll I, et al. The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors. Haematologica. 2002;87:279-285.
    • (2002) Haematologica , vol.87 , pp. 279-285
    • Tizzano, E.F.1    Soria, J.M.2    Coll, I.3
  • 24
    • 0034976081 scopus 로고    scopus 로고
    • Factor X levels, polymorphisms in the promoter region of factor X, and the risk of venous thrombosis
    • de Visser MC, Poort SR, Vos HL, Rosendaal FR, Bertina RM. Factor X levels, polymorphisms in the promoter region of factor X, and the risk of venous thrombosis. Thromb Haemost. 2001;85:1011-1017.
    • (2001) Thromb Haemost , vol.85 , pp. 1011-1017
    • De Visser, M.C.1    Poort, S.R.2    Vos, H.L.3    Rosendaal, F.R.4    Bertina, R.M.5
  • 25
    • 0028314865 scopus 로고
    • Mutation in blood coagulation factor V associated with resistance to activated protein C
    • Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-67.
    • (1994) Nature , vol.369 , pp. 64-67
    • Bertina, R.M.1    Koeleman, B.P.2    Koster, T.3
  • 26
    • 9044228783 scopus 로고    scopus 로고
    • Detection of new polymorphic markers in the factor V gene: Association with factor V levels in plasma
    • Lunghi B, Iacoviello L, Gemmati D, et al. Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. Thromb Haemost. 1996;75:45-48.
    • (1996) Thromb Haemost , vol.75 , pp. 45-48
    • Lunghi, B.1    Iacoviello, L.2    Gemmati, D.3
  • 27
    • 0029850530 scopus 로고    scopus 로고
    • A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
    • Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-3703.
    • (1996) Blood , vol.88 , pp. 3698-3703
    • Poort, S.R.1    Rosendaal, F.R.2    Reitsma, P.H.3    Bertina, R.M.4
  • 28
    • 0022534734 scopus 로고
    • A computer assisted method to obtain the prothrombin activation velocity in whole plasma independent of thrombin decay processes
    • Hemker HC, Willems GM, Béguin S. A computer assisted method to obtain the prothrombin activation velocity in whole plasma independent of thrombin decay processes. Thromb Haemost. 1986;56:9-17.
    • (1986) Thromb Haemost , vol.56 , pp. 9-17
    • Hemker, H.C.1    Willems, G.M.2    Béguin, S.3
  • 29
    • 0033693676 scopus 로고    scopus 로고
    • Phenotyping the clotting system
    • Hemker HC, Béguin S. Phenotyping the clotting system. Thromb Haemost. 2000;84:747-751.
    • (2000) Thromb Haemost , vol.84 , pp. 747-751
    • Hemker, H.C.1    Béguin, S.2
  • 30
    • 0028030891 scopus 로고
    • Human protein S inhibits prothrombinase complex activity on endothelial cells and platelets via direct interactions with factors Va and Xa
    • Hackeng TM, van 't Veer C, Meijers JC, Bouma BN. Human protein S inhibits prothrombinase complex activity on endothelial cells and platelets via direct interactions with factors Va and Xa. J Biol Chem. 1994;269:21051-21058.
    • (1994) J Biol Chem , vol.269 , pp. 21051-21058
    • Hackeng, T.M.1    Van't Veer, C.2    Meijers, J.C.3    Bouma, B.N.4
  • 31
    • 0034536783 scopus 로고    scopus 로고
    • An assay to quantify the two plasma isoforms of factor V
    • Hoekema L, Rosing J, Tans G. An assay to quantify the two plasma isoforms of factor V. Thromb Haemost. 2000;84:1066-1071.
    • (2000) Thromb Haemost , vol.84 , pp. 1066-1071
    • Hoekema, L.1    Rosing, J.2    Tans, G.3
  • 32
    • 0027442867 scopus 로고
    • Characterization of two forms of human factor Va with different cofactor activities
    • Rosing J, Bakker HM, Thomassen MC, Hemker HC, Tans G. Characterization of two forms of human factor Va with different cofactor activities. J Biol Chem. 1993;268:21130-21136.
    • (1993) J Biol Chem , vol.268 , pp. 21130-21136
    • Rosing, J.1    Bakker, H.M.2    Thomassen, M.C.3    Hemker, H.C.4    Tans, G.5
  • 33
    • 0029133654 scopus 로고
    • Peptide bond cleavages and loss of functional activity during inactivation of factor Va and factor VaR506Q by activated protein C
    • Nicolaes GA, Tans G, Thomassen MC, et al. Peptide bond cleavages and loss of functional activity during inactivation of factor Va and factor VaR506Q by activated protein C. J Biol Chem. 1995;270:21158-21166.
    • (1995) J Biol Chem , vol.270 , pp. 21158-21166
    • Nicolaes, G.A.1    Tans, G.2    Thomassen, M.C.3
  • 34
    • 0027377650 scopus 로고
    • Continuous registration of thrombin generation in plasma, its use for the determination of the thrombin potential
    • Hemker HC, Wielders S, Kessels H, Béguin S. Continuous registration of thrombin generation in plasma, its use for the determination of the thrombin potential. Thromb Haemost. 1993;70:617-624.
    • (1993) Thromb Haemost , vol.70 , pp. 617-624
    • Hemker, H.C.1    Wielders, S.2    Kessels, H.3    Béguin, S.4
  • 36
    • 0033214353 scopus 로고    scopus 로고
    • "Normal" thrombin generation
    • Butenas S, van 't Veer C, Mann KG. "Normal" thrombin generation. Blood. 1999;94:2169-2178.
    • (1999) Blood , vol.94 , pp. 2169-2178
    • Butenas, S.1    Van't Veer, C.2    Mann, K.G.3
  • 37
    • 0017639138 scopus 로고
    • Activation of factor IX by the reaction product of tissue factor and factor VII: Additional pathway for initiating blood coagulation
    • Osterud B, Rapaport SI. Activation of factor IX by the reaction product of tissue factor and factor VII: additional pathway for initiating blood coagulation. Proc Natl Acad Sci U S A. 1977;74:5260-5264.
    • (1977) Proc Natl Acad Sci U S A , vol.74 , pp. 5260-5264
    • Osterud, B.1    Rapaport, S.I.2
  • 38
    • 0025788582 scopus 로고
    • Activation of human blood coagulation factor Xi independent of factor XII: Factor XI is activated by thrombin and factor XIa in the presence of negatively charged surfaces
    • Naito K, Fujikawa K. Activation of human blood coagulation factor Xi independent of factor XII: factor XI is activated by thrombin and factor XIa in the presence of negatively charged surfaces. J Biol Chem. 1991;266:7353-7358.
    • (1991) J Biol Chem , vol.266 , pp. 7353-7358
    • Naito, K.1    Fujikawa, K.2
  • 39
    • 0028290275 scopus 로고
    • Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor Villa
    • Shen L, Dahlbäck 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.
    • (1994) J Biol Chem , vol.269 , pp. 18735-18738
    • Shen, L.1    Dahlbäck, B.2
  • 40
    • 0029792536 scopus 로고    scopus 로고
    • Factor V enhances the cofactor function of protein S in the APC-mediated inactivation of factor VIII: Influence of the factor VR506Q mutation
    • Váradi K, Rosing J, Tans G, Pabinger I, Keil B, Schwarz HP. Factor V enhances the cofactor function of protein S in the APC-mediated inactivation of factor VIII: influence of the factor VR506Q mutation. Thromb Haemost. 1996;76:208-214.
    • (1996) Thromb Haemost , vol.76 , pp. 208-214
    • Váradi, K.1    Rosing, J.2    Tans, G.3    Pabinger, I.4    Keil, B.5    Schwarz, H.P.6
  • 41
    • 0033561431 scopus 로고    scopus 로고
    • Cleavage of factor V at Arg 506 by activated protein C and the expression of anticoagulant activity of factor V
    • Thorelli E, Kaufman RJ, Dahlbäck B. Cleavage of factor V at Arg 506 by activated protein C and the expression of anticoagulant activity of factor V. Blood. 1999;93:2552-2558.
    • (1999) Blood , vol.93 , pp. 2552-2558
    • Thorelli, E.1    Kaufman, R.J.2    Dahlbäck, B.3
  • 43
    • 0028855944 scopus 로고
    • Low prevalence of the factor V Leiden mutation among "severe" hemophiliacs with a "milder" bleeding diathesis
    • Arbini AA, Mannucci PM, Bauer KA. Low prevalence of the factor V Leiden mutation among "severe" hemophiliacs with a "milder" bleeding diathesis. Thromb Haemost. 1995;74:1255-1258.
    • (1995) Thromb Haemost , vol.74 , pp. 1255-1258
    • Arbini, A.A.1    Mannucci, P.M.2    Bauer, K.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.