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Volumn 93, Issue 1, 2005, Pages 57-62

Conformational Asn 187Asp/Lys antithrombin variants and thrombosis. Clinical and biological features in 13 new heterozygotes

Author keywords

Antithrombin; Conformational variant; Serpin; Thrombophilia

Indexed keywords

ANTICOAGULANT AGENT; ANTITHROMBIN; ASPARAGINE; LYSINE; ANTITHROMBIN III;

EID: 12344264070     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH04-08-0477     Document Type: Article
Times cited : (5)

References (27)
  • 1
    • 0001627642 scopus 로고
    • Inherited antithrombin deficiency causing thrombophilia
    • Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-30.
    • (1965) Thromb. Diath. Haemorrh. , vol.13 , pp. 516-530
    • Egeberg, O.1
  • 2
    • 0025241268 scopus 로고
    • Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis
    • Heijboer H, Brandjes DP, Buller HR, et al. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med 1990; 323: 1512-6.
    • (1990) N. Engl. J. Med. , vol.323 , pp. 1512-1516
    • Heijboer, H.1    Brandjes, D.P.2    Buller, H.R.3
  • 3
    • 0041849236 scopus 로고    scopus 로고
    • Risks factors for venous thrombotic disease
    • Rosendaal FR. Risks factors for venous thrombotic disease. Thromb Haemost 1996; 82: 616-9.
    • (1996) Thromb. Haemost. , vol.82 , pp. 616-619
    • Rosendaal, F.R.1
  • 4
    • 0028234593 scopus 로고
    • Prevalence of antithrombin deficiency in the healthy population
    • Tait RC, Walker ID, Perry DJ, et al. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol 1994; 87: 106-12.
    • (1994) Br. J. Haematol. , vol.87 , pp. 106-112
    • Tait, R.C.1    Walker, I.D.2    Perry, D.J.3
  • 5
    • 0031042986 scopus 로고    scopus 로고
    • Antithrombin mutation database: 2nd update
    • For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis 1997
    • Lane DA, Bayston T, Olds RJ, et al. Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1997; 77: 197-211.
    • (1997) Thromb. Haemost. , vol.77 , pp. 197-211
    • Lane, D.A.1    Bayston, T.2    Olds, R.J.3
  • 6
    • 0028901354 scopus 로고
    • Two novel antithrombin variants, Asn187Asp and Asn187Lys, indicate a functional role for asparagine 187
    • Perry DJ, Marshall C, Borg JY, et al. Two novel antithrombin variants, Asn187Asp and Asn187Lys, indicate a functional role for asparagine 187. Blood Coagul Fibrinolysis 1995; 6: 51-4.
    • (1995) Blood Coagul. Fibrinolysis , vol.6 , pp. 51-54
    • Perry, D.J.1    Marshall, C.2    Borg, J.Y.3
  • 7
    • 0027999955 scopus 로고
    • Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn←Asp)
    • Bruce D, Perry DJ, Borg JY, et al. Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn←Asp). J Clin Invest 1994; 94: 2265-74.
    • (1994) J. Clin. Invest. , vol.94 , pp. 2265-2274
    • Bruce, D.1    Perry, D.J.2    Borg, J.Y.3
  • 8
    • 0032532347 scopus 로고    scopus 로고
    • Antithrombins Wibble and Wobble (T85M/K): Archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation
    • Beauchamp NJ, Pike RN, Daly M, et al. Antithrombins Wibble and Wobble (T85M/K): archetypal conformational diseases with in vivo latent-transition, thrombosis, and heparin activation. Blood 1998; 92: 2696-706.
    • (1998) Blood , vol.92 , pp. 2696-2706
    • Beauchamp, N.J.1    Pike, R.N.2    Daly, M.3
  • 9
    • 0043245935 scopus 로고    scopus 로고
    • Antithrombin Phe229Leu: A new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis
    • Picard V, Dautzenberg MD, Villoutreix BO, et al. Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. Blood 2003; 102: 919-25.
    • (2003) Blood , vol.102 , pp. 919-925
    • Picard, V.1    Dautzenberg, M.D.2    Villoutreix, B.O.3
  • 10
    • 0026042475 scopus 로고
    • Familial antithrombin III deficiency and Mycoplasma pneumoniae pneumonia
    • Creagh MD, Roberts IF, Clark DJ, et al. Familial antithrombin III deficiency and Mycoplasma pneumoniae pneumonia. J Clin Pathol 1991; 44: 870-1.
    • (1991) J. Clin. Pathol. , vol.44 , pp. 870-871
    • Creagh, M.D.1    Roberts, I.F.2    Clark, D.J.3
  • 11
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 12
    • 0033776297 scopus 로고    scopus 로고
    • Molecular bases of antithrombin deficiency in French families: Identification of seven novel mutations in the antithrombin gene
    • Picard V, Bura A, Emmerich J, et al. Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene. Br J Haematol 2000; 110: 731-4.
    • (2000) Br. J. Haematol. , vol.110 , pp. 731-734
    • Picard, V.1    Bura, A.2    Emmerich, J.3
  • 13
    • 0016592128 scopus 로고
    • Plasma and serum antithrombin III: Differentiation by crossed immunoelectrophoresis
    • Sas G, Pepper DS, Cash JD. Plasma and serum antithrombin III: differentiation by crossed immunoelectrophoresis. Thromb Res 1975; 6: 87-91.
    • (1975) Thromb. Res. , vol.6 , pp. 87-91
    • Sas, G.1    Pepper, D.S.2    Cash, J.D.3
  • 14
    • 0033582435 scopus 로고    scopus 로고
    • Topology of the stable serpin-protease complexes revealed by an autoantibody that fails to react with the monomeric conformers of antithrombin
    • Picard V, Marque PE, Paolucci F, et al. Topology of the stable serpin-protease complexes revealed by an autoantibody that fails to react with the monomeric conformers of antithrombin. J Biol Chem 1999; 274: 4586-93.
    • (1999) J. Biol. Chem. , vol.274 , pp. 4586-4593
    • Picard, V.1    Marque, P.E.2    Paolucci, F.3
  • 15
    • 0019472086 scopus 로고
    • A simple two-step procedure for the isolation of antithrombin III from biological fluids
    • McKay EJ. A simple two-step procedure for the isolation of antithrombin III from biological fluids. Thromb Res 1981; 21: 375-82.
    • (1981) Thromb. Res. , vol.21 , pp. 375-382
    • McKay, E.J.1
  • 16
    • 0030700799 scopus 로고    scopus 로고
    • Preparative induction and characterization of L-antithrombin: A structural homologue of latent plasminogen activator inhibitor-1
    • Wardell MR, Chang WS, Bruce D, et al. Preparative induction and characterization of L-antithrombin: a structural homologue of latent plasminogen activator inhibitor-1. Biochemistry 1997; 36: 13133-42.
    • (1997) Biochemistry , vol.36 , pp. 13133-13142
    • Wardell, M.R.1    Chang, W.S.2    Bruce, D.3
  • 18
    • 0034922910 scopus 로고    scopus 로고
    • Thrombophilia, thrombosis and pregnancy
    • Eldor A. Thrombophilia, thrombosis and pregnancy. Thromb Haemost 2001; 86: 104-11.
    • (2001) Thromb. Haemost. , vol.86 , pp. 104-111
    • Eldor, A.1
  • 19
    • 0034846736 scopus 로고    scopus 로고
    • Risk of pregnancy-related venous thrombosis in carriers of severe inherited thrombophilia
    • Martinelli I, Legnani C, Bucciarelli P, et al. Risk of pregnancy-related venous thrombosis in carriers of severe inherited thrombophilia. Thromb Haemost 2001; 86: 800-3.
    • (2001) Thromb. Haemost. , vol.86 , pp. 800-803
    • Martinelli, I.1    Legnani, C.2    Bucciarelli, P.3
  • 20
    • 0025216068 scopus 로고
    • Thrombosis and pregnancy in congenital deficiencies in AT III, protein C or protein S: Study of 78 women
    • Conard J, Horellou MH, Van Dreden P, et al. Thrombosis and pregnancy in congenital deficiencies in AT III, protein C or protein S: study of 78 women. Thromb Haemost 1990; 63: 319-20.
    • (1990) Thromb. Haemost. , vol.63 , pp. 319-320
    • Conard, J.1    Horellou, M.H.2    Van Dreden, P.3
  • 21
    • 0029975366 scopus 로고    scopus 로고
    • Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency
    • Pabinger I, Schneider B. Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. Arterioscler Thromb Vasc Biol 1996; 16: 742-8.
    • (1996) Arterioscler. Thromb. Vasc. Biol. , vol.16 , pp. 742-748
    • Pabinger, I.1    Schneider, B.2
  • 22
    • 0033901546 scopus 로고    scopus 로고
    • Thrombophilia in pregnancy
    • Walker ID. Thrombophilia in pregnancy. J Clin Pathol 2000; 53: 573-80.
    • (2000) J. Clin. Pathol. , vol.53 , pp. 573-580
    • Walker, I.D.1
  • 23
    • 0037393051 scopus 로고    scopus 로고
    • Hemostasis during normal pregnancy and the puerperium
    • Hellgren M. Hemostasis during normal pregnancy and the puerperium. Semin Thromb Hemost 2003; 2: 125-30.
    • (2003) Semin. Thromb. Hemost. , vol.2 , pp. 125-130
    • Hellgren, M.1
  • 24
    • 0032851668 scopus 로고    scopus 로고
    • Prospective evaluation of hemostatic system activation and thrombin potential in healthy pregnant women with and without factor V Leiden
    • Eichinger S, Weltermann A, Philipp K, et al. Prospective evaluation of hemostatic system activation and thrombin potential in healthy pregnant women with and without factor V Leiden. Thromb Haemost 1999; 82: 1232-6.
    • (1999) Thromb. Haemost. , vol.82 , pp. 1232-1236
    • Eichinger, S.1    Weltermann, A.2    Philipp, K.3
  • 25
    • 0034523345 scopus 로고    scopus 로고
    • Phylogeny of the serpin superfamily: Implications of patterns of amino acid conservation for structure and function
    • Irving JA, Pike RN, Lesk AM, et al. Phylogeny of the serpin superfamily: implications of patterns of amino acid conservation for structure and function. Genome Res 2000; 10: 1845-64.
    • (2000) Genome Res. , vol.10 , pp. 1845-1864
    • Irving, J.A.1    Pike, R.N.2    Lesk, A.M.3
  • 26
    • 0037125184 scopus 로고    scopus 로고
    • The F-helix of serpins plays an essential, active role in the proteinase inhibition mechanism
    • Gettins PG. The F-helix of serpins plays an essential, active role in the proteinase inhibition mechanism. FEBS Lett 2002; 523: 2-6.
    • (2002) FEBS Lett. , vol.523 , pp. 2-6
    • Gettins, P.G.1
  • 27
    • 0028367551 scopus 로고
    • The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions
    • Schreuder HA, de Boer B, Dijkema R, et al. The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions. Nat Struct Biol 1994; 1: 48-54.
    • (1994) Nat. Struct. Biol. , vol.1 , pp. 48-54
    • Schreuder, H.A.1    de Boer, B.2    Dijkema, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.