메뉴 건너뛰기




Volumn 103, Issue 9, 2004, Pages 3381-3387

Functional characterization of factor V-Ile359Thr: A novel mutation associated with thrombosis

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; ARGININE; ASPARAGINE; BLOOD CLOTTING FACTOR 5A; BLOOD CLOTTING FACTOR 8A; CARBOHYDRATE; GLYCINE; ISOLEUCINE; PROCOAGULANT; PROTEIN S; THREONINE; VALINE;

EID: 1942425200     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-06-2092     Document Type: Article
Times cited : (38)

References (33)
  • 1
    • 0019977242 scopus 로고
    • Radioimmunoassay of factor V in human plasma and platelets
    • Tracy PB, Eide LL, Bowie EJ, Mann KG. Radioimmunoassay of factor V in human plasma and platelets. Blood. 1982;60:59-63,
    • (1982) Blood , vol.60 , pp. 59-63
    • Tracy, P.B.1    Eide, L.L.2    Bowie, E.J.3    Mann, K.G.4
  • 2
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • Gitschier J, Wood WI, Goralka TM, et al. Characterization of the human factor VIII gene. Nature. 1984;312:326-330.
    • (1984) Nature , vol.312 , pp. 326-330
    • Gitschier, J.1    Wood, W.I.2    Goralka, T.M.3
  • 3
    • 0023918199 scopus 로고
    • Blood coagulation factors V and VIII: Structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders
    • Kane WH, Davie EW. Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders. Blood. 1988;71:539-555.
    • (1988) Blood , vol.71 , pp. 539-555
    • Kane, W.H.1    Davie, E.W.2
  • 4
    • 0025139882 scopus 로고
    • Activation of human factor V by factor Xa and thrombin
    • Monkovic DD, Tracy PB. Activation of human factor V by factor Xa and thrombin. Biochemistry. 1990;29:1118-1128.
    • (1990) Biochemistry , vol.29 , pp. 1118-1128
    • Monkovic, D.D.1    Tracy, P.B.2
  • 5
    • 0020320628 scopus 로고
    • Thrombin-catalyzed activation of human coagulation factor V
    • Suzuki K, Dahlback B, Stenflo J. Thrombin-catalyzed activation of human coagulation factor V. J Biol Chem. 1982;257:6556-6564.
    • (1982) J Biol Chem , vol.257 , pp. 6556-6564
    • Suzuki, K.1    Dahlback, B.2    Stenflo, J.3
  • 6
    • 0028110027 scopus 로고
    • The mechanism of inactivation of human factor V and human factor Va by activated protein C
    • Kalafatis M, Rand MD, Mann KG. The mechanism of inactivation of human factor V and human factor Va by activated protein C. J Biol Chem. 1994;269:31869-31880.
    • (1994) J Biol Chem , vol.269 , pp. 31869-31880
    • Kalafatis, M.1    Rand, M.D.2    Mann, K.G.3
  • 7
    • 0028290275 scopus 로고
    • Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor Villa
    • Shen L, Dahlback 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    Dahlback, B.2
  • 8
    • 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
    • Varadi 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
    • Varadi, K.1    Rosing, J.2    Tans, G.3    Pabinger, I.4    Keil, B.5    Schwarz, H.P.6
  • 9
    • 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, Dahlback 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    Dahlback, B.3
  • 10
    • 0035880234 scopus 로고    scopus 로고
    • Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency
    • van Wljk R, Nieuwenhuis K, van den Berg M, et al. Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. Blood. 2001;98:358-367.
    • (2001) Blood , vol.98 , pp. 358-367
    • Van Wljk, R.1    Nieuwenhuis, K.2    Van Den Berg, M.3
  • 11
    • 0037079738 scopus 로고    scopus 로고
    • Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952deIT in exon 13 and 5493insG in exon 16 of factor 5 gene
    • Ajzner EE, Balogh I, Szabo T, Marosi A, Haramura G, Muszbek L. Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952deIT in exon 13 and 5493insG in exon 16 of factor 5 gene. Blood. 2002;99:702-705.
    • (2002) Blood , vol.99 , pp. 702-705
    • Ajzner, E.E.1    Balogh, I.2    Szabo, T.3    Marosi, A.4    Haramura, G.5    Muszbek, L.6
  • 12
    • 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
  • 13
    • 0032770492 scopus 로고    scopus 로고
    • Activated protein C resistance and thrombosis: Molecular mechanisms of hypercoagulable state due to FVR506Q mutation
    • Dahlback B. Activated protein C resistance and thrombosis: molecular mechanisms of hypercoagulable state due to FVR506Q mutation. Semin Thromb Hemost. 1999;25:273-289.
    • (1999) Semin Thromb Hemost , vol.25 , pp. 273-289
    • Dahlback, B.1
  • 14
    • 0032520041 scopus 로고    scopus 로고
    • Factor V Cambridge: A new mutation (Arg306→Thr) associated with resistance to activated protein C
    • Williamson D, Brown K, Luddington R, Baglin C, Baglin T. Factor V Cambridge: a new mutation (Arg306→Thr) associated with resistance to activated protein C. Blood. 1998;91:1140-1144.
    • (1998) Blood , vol.91 , pp. 1140-1144
    • Williamson, D.1    Brown, K.2    Luddington, R.3    Baglin, C.4    Baglin, T.5
  • 15
    • 0032520034 scopus 로고    scopus 로고
    • A novel mutation of Arg306 of factor V gene in Hong Kong Chinese
    • Chan WP, Lee CK, Kwong YL, Lam CK, Liang R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood. 1998;91:1135-1139.
    • (1998) Blood , vol.91 , pp. 1135-1139
    • Chan, W.P.1    Lee, C.K.2    Kwong, Y.L.3    Lam, C.K.4    Liang, R.5
  • 16
    • 0034746157 scopus 로고    scopus 로고
    • Factor V Arg306→Gly mutation is not associated with activated protein C resistance and is rare in Taiwanese Chinese
    • Shen MC, Lin JS, Tsay W. Factor V Arg306→Gly mutation is not associated with activated protein C resistance and is rare in Taiwanese Chinese. Thromb Haemost. 2001;85:270-273.
    • (2001) Thromb Haemost , vol.85 , pp. 270-273
    • Shen, M.C.1    Lin, J.S.2    Tsay, W.3
  • 17
    • 0031593697 scopus 로고    scopus 로고
    • Factor V Arg306→Thr (factor V Cambridge) and factor V Arg306→Gly mutations in venous thrombotic disease
    • Franco RF, Maffei FH, Lourenco D, et al. Factor V Arg306→Thr (factor V Cambridge) and factor V Arg306→Gly mutations in venous thrombotic disease. Br J Haematol. 1998;103:888-890.
    • (1998) Br J Haematol , vol.103 , pp. 888-890
    • Franco, R.F.1    Maffei, F.H.2    Lourenco, D.3
  • 18
    • 0037100417 scopus 로고    scopus 로고
    • Functional characterization of recombinant FV Hong Kong and FV Cambridge
    • Norstrom E, Thorelli E, Dahlback B. Functional characterization of recombinant FV Hong Kong and FV Cambridge. Blood. 2002;100:524-530.
    • (2002) Blood , vol.100 , pp. 524-530
    • Norstrom, E.1    Thorelli, E.2    Dahlback, B.3
  • 19
    • 0242329725 scopus 로고    scopus 로고
    • Factor V 1359T: A novel mutation associated with thrombosis and resistance to activated protein C
    • Mumford AD, McVey JH, Morse CV, et al. Factor V 1359T: a novel mutation associated with thrombosis and resistance to activated protein C. Br J Haematol. 2003;123:496-501.
    • (2003) Br J Haematol , vol.123 , pp. 496-501
    • Mumford, A.D.1    McVey, J.H.2    Morse, C.V.3
  • 20
    • 0008912897 scopus 로고
    • Complete cDNA and derived amino acid sequence of human FV
    • Jenny R, Pittman D, Toole J, et al. Complete cDNA and derived amino acid sequence of human FV. Proc Natl Acad Sci USA. 1987;84:4846-4850.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 4846-4850
    • Jenny, R.1    Pittman, D.2    Toole, J.3
  • 21
    • 0018909419 scopus 로고
    • Human coagluation factor V purification and thrombin-catalyzed activation
    • Dahlback B. Human coagluation factor V purification and thrombin-catalyzed activation. J Clin Invest. 1980;66:583-591.
    • (1980) J Clin Invest , vol.66 , pp. 583-591
    • Dahlback, B.1
  • 22
    • 0025738740 scopus 로고
    • Comparison of anticoagulant and procoagulant activities of stimulated platelets and platelet-derived microparticles
    • Tans G, Rosing J, Thomassen MC, Heeb MJ, Zwaal RF, Griffin JH. Comparison of anticoagulant and procoagulant activities of stimulated platelets and platelet-derived microparticles. Blood. 1991;77:2641-2648.
    • (1991) Blood , vol.77 , pp. 2641-2648
    • Tans, G.1    Rosing, J.2    Thomassen, M.C.3    Heeb, M.J.4    Zwaal, R.F.5    Griffin, J.H.6
  • 23
    • 0025303669 scopus 로고
    • Characterization of functionally important domains in human vitamin K-dependent protein S using monoclonal antibodies
    • Dahlback 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.
    • (1990) J Biol Chem , vol.265 , pp. 8127-8135
    • Dahlback, B.1    Hildebrand, B.2    Malm, J.3
  • 24
    • 50549164858 scopus 로고
    • A rapid and sensitive sub-micro phosphorus determination
    • Böttcher CJF. A rapid and sensitive sub-micro phosphorus determination. Anal Chim Acta. 1961;24:203-207.
    • (1961) Anal Chim Acta , vol.24 , pp. 203-207
    • Böttcher, C.J.F.1
  • 25
    • 0025375266 scopus 로고
    • Vectors used for expression in mammalian cells
    • Kaufman RJ. Vectors used for expression in mammalian cells. Methods Enzymol. 1990;185:487-511.
    • (1990) Methods Enzymol , vol.185 , pp. 487-511
    • Kaufman, R.J.1
  • 26
    • 0037064117 scopus 로고    scopus 로고
    • Thrombin-mediated proteolysis of factor V resulting in gradual B-domain release and exposure of the factor Xa-binding site
    • Steen M, Dahlback B. Thrombin-mediated proteolysis of factor V resulting In gradual B-domain release and exposure of the factor Xa-binding site. J Biol Chem. 2002;277:38424-38430.
    • (2002) J Biol Chem , vol.277 , pp. 38424-38430
    • Steen, M.1    Dahlback, B.2
  • 27
    • 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
  • 28
    • 0347997285 scopus 로고    scopus 로고
    • Defining the factor Xa-binding site on factor Va by site-directed glycosylation
    • Steen M, Villoutreix BO, Norstrom EA, Yamazaki T, Dahlback B. Defining the factor Xa-binding site on factor Va by site-directed glycosylation. J Biol Chem. 2002;277:50022-50029.
    • (2002) J Biol Chem , vol.277 , pp. 50022-50029
    • Steen, M.1    Villoutreix, B.O.2    Norstrom, E.A.3    Yamazaki, T.4    Dahlback, B.5
  • 29
    • 0029833850 scopus 로고    scopus 로고
    • Binding sites for blood coagulation factor Xa and protein S involving residues 493-506 in factor Va
    • Heeb MJ, Kojima Y, Hackeng TM, Griffin JH. Binding sites for blood coagulation factor Xa and protein S involving residues 493-506 in factor Va. Protein Sci. 1996;5:1883-1889.
    • (1996) Protein Sci , vol.5 , pp. 1883-1889
    • Heeb, M.J.1    Kojima, Y.2    Hackeng, T.M.3    Griffin, J.H.4
  • 30
    • 0025021593 scopus 로고
    • Identification of the binding site for activated protein C on the light chain of factors V and VIII
    • Walker FJ, Scandella D, Fay PJ. Identification of the binding site for activated protein C on the light chain of factors V and VIII. J Biol Chem. 1990;265:1484-1489.
    • (1990) J Biol Chem , vol.265 , pp. 1484-1489
    • Walker, F.J.1    Scandella, D.2    Fay, P.J.3
  • 31
    • 2642679231 scopus 로고    scopus 로고
    • Structural investigation of the A domains of human blood coagulation factor V by molecular modeling
    • Villoutreix BO, Dahlback B. Structural investigation of the A domains of human blood coagulation factor V by molecular modeling. Protein Sci. 1998;7:1317-1325.
    • (1998) Protein Sci , vol.7 , pp. 1317-1325
    • Villoutreix, B.O.1    Dahlback, B.2
  • 32
    • 0033134773 scopus 로고    scopus 로고
    • Procoagulant and anticoagulant properties of coagulation factor V: Factor V Leiden (APC rasistance) causes hypercoagulability by dual mechanisms
    • Dahlback B. Procoagulant and anticoagulant properties of coagulation factor V: factor V Leiden (APC rasistance) causes hypercoagulability by dual mechanisms. J Lab Clin Med. 1999;133:415-422.
    • (1999) J Lab Clin Med , vol.133 , pp. 415-422
    • Dahlback, B.1
  • 33
    • 0032610970 scopus 로고    scopus 로고
    • Mechanisms that regulate the anticoagulant function of coagulation factor V
    • Thorelli E. Mechanisms that regulate the anticoagulant function of coagulation factor V. Scand J Clin Lab Invest Suppl. 1999;229:19-26.
    • (1999) Scand J Clin Lab Invest Suppl , vol.229 , pp. 19-26
    • Thorelli, E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.