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Volumn 111, Issue 2, 2013, Pages 249-257

Impact of the type of serpinc1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency

Author keywords

Antithrombin deficiency; Arterial thromboembolism; Mutation; SERPINC1; Venous thromboembol ism

Indexed keywords

ANTITHROMBIN III;

EID: 84893206363     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH13-05-0402     Document Type: Article
Times cited : (52)

References (38)
  • 1
    • 0028109413 scopus 로고
    • Antithrombin: Principal inhibitor of throm-bin
    • Olds RJ, Lane DA, Mille BM, et al. Antithrombin: principal inhibitor of throm-bin. Semin Thromb Hemost 1994; 20: 353-372.
    • (1994) Semin Thromb Hemost , vol.20 , pp. 353-372
    • Olds, R.J.1    Lane, D.A.2    Mille, B.M.3
  • 2
    • 0038164797 scopus 로고    scopus 로고
    • Heparin and calcium ions dramatically enhance antithrombin reactivity with factor IXa by generating new interaction exosites
    • Bedsted T, Swanson R, Chuang YJ, et al. Heparin and calcium ions dramatically enhance antithrombin reactivity with factor IXa by generating new interaction exosites. Biochemistry 2003; 42: 8143-8152.
    • (2003) Biochemistry , vol.42 , pp. 8143-8152
    • Bedsted, T.1    Swanson, R.2    Chuang, Y.J.3
  • 3
    • 0031445112 scopus 로고    scopus 로고
    • The anticoagulant activation of antithrom-bin by heparin
    • Jin L, Abrahams JP, Skinner R, et al. The anticoagulant activation of antithrom-bin by heparin. Proc Natl Acad Sci USA 1997; 94: 14683-14688.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 14683-14688
    • Jin, L.1    Abrahams, J.P.2    Skinner, R.3
  • 4
    • 33646581724 scopus 로고    scopus 로고
    • Antithrombin-S195A factor Xa-heparin structure reveals the allosteric mechanism of antithrombin activation
    • Johnson DJ, Li W, Adams TE, et al. Antithrombin-S195A factor Xa-heparin structure reveals the allosteric mechanism of antithrombin activation. EMBO J 2006; 25: 2029-2037.
    • (2006) EMBO J , vol.25 , pp. 2029-2037
    • Johnson, D.J.1    Li, W.2    Adams, T.E.3
  • 5
    • 0033807066 scopus 로고    scopus 로고
    • Complete antithrombin deficiency in mice results in embryonic lethality
    • Ishiguro K, Kojima T, Kadomatsu K, et al. Complete antithrombin deficiency in mice results in embryonic lethality. J Clin Invest 2000; 106: 873-878.
    • (2000) J Clin Invest , vol.106 , pp. 873-878
    • Ishiguro, K.1    Kojima, T.2    Kadomatsu, K.3
  • 6
    • 13244281218 scopus 로고    scopus 로고
    • Departement of Haema-tology, Imperial College Faculty of Medicine, Charing Cross Hospital Campus, London, UK, Available at, Last accessed November 2012
    • Bayton T, Lane D. Antithrombin Mutation Data Base. Departement of Haema-tology, Imperial College Faculty of Medicine, Charing Cross Hospital Campus, London, UK. 2003. Available at: http:/www1.imperial.ac.uk/departmentofmedi-cine/divisions/experimentalmedicine/haematology/coag/antithrombin/. Last accessed November 2012.
    • (2003) Antithrombin Mutation Data Base
    • Bayton, T.1    Lane, D.2
  • 7
    • 0001627642 scopus 로고
    • Inherited antithrombin deficiency causing thrombophilia
    • Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-530.
    • (1965) Thromb Diath Haemorrh , vol.13 , pp. 516-530
    • Egeberg, O.1
  • 8
    • 84870426647 scopus 로고    scopus 로고
    • Available at, Last accessed May
    • Human Gene Mutation Database. Available at: http://www.hgmd.cf.ac.uk/ac/index.php. Last accessed May 2012.
    • (2012) Human Gene Mutation Database
  • 9
    • 79955424161 scopus 로고    scopus 로고
    • Molecular basis of antithrombin deficiency
    • Luxembourg B, Delev D, Geisen C, et al. Molecular basis of antithrombin deficiency. Thromb Haemost 2011; 105: 635-646.
    • (2011) Thromb Haemost , vol.105 , pp. 635-646
    • Luxembourg, B.1    Delev, D.2    Geisen, C.3
  • 10
    • 67149089651 scopus 로고    scopus 로고
    • Selective testing for thrombophilia in patients with first venous thrombosis: Results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives
    • Lijfering WM, Brouwer JL, Veeger NJ, et al. Selective testing for thrombophilia in patients with first venous thrombosis: results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood 2009; 113: 5314-5322.
    • (2009) Blood , vol.113 , pp. 5314-5322
    • Lijfering, W.M.1    Brouwer, J.L.2    Veeger, N.J.3
  • 11
    • 0029975366 scopus 로고    scopus 로고
    • Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Gesellschaft fur Thrombose- und Hamostaseforschung (GTH) Study Group on Natural Inhibitors
    • Pabinger I, Schneider B. Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Gesellschaft fur Thrombose- und Hamostaseforschung (GTH) Study Group on Natural Inhibitors. Arterioscler Thromb Vasc Biol 1996; 16: 742-748.
    • (1996) Arterioscler Thromb Vasc Biol , vol.16 , pp. 742-748
    • Pabinger, I.1    Schneider, B.2
  • 12
    • 0027971225 scopus 로고
    • Clinical manifestations and management of inherited thrombophilia: Retrospective analysis and follow-up after diagnosis of 238 patients with congenital deficiency of antithrombin III, protein C, protein S
    • De Stefano V, Leone G, Mastrangelo S, et al. Clinical manifestations and management of inherited thrombophilia: retrospective analysis and follow-up after diagnosis of 238 patients with congenital deficiency of antithrombin III, protein C, protein S. Thromb Haemost 1994; 72: 352-358.
    • (1994) Thromb Haemost , vol.72 , pp. 352-358
    • de Stefano, V.1    Leone, G.2    Mastrangelo, S.3
  • 13
    • 0032190251 scopus 로고    scopus 로고
    • Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: A study of 150 families
    • Martinelli I, Mannucci PM, De Stefano V, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood 1998; 92: 2353-2358.
    • (1998) Blood , vol.92 , pp. 2353-2358
    • Martinelli, I.1    Mannucci, P.M.2    de Stefano, V.3
  • 14
    • 0033485887 scopus 로고    scopus 로고
    • The incidence of venous thromboem-bolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S: A prospective cohort study
    • Sanson BJ, Simioni P, Tormene D, et al. The incidence of venous thromboem-bolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S: a prospective cohort study. Blood 1999; 94: 3702-3706.
    • (1999) Blood , vol.94 , pp. 3702-3706
    • Sanson, B.J.1    Simioni, P.2    Tormene, D.3
  • 15
    • 23944444384 scopus 로고    scopus 로고
    • Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT)
    • Vossen CY, Conard J, Fontcuberta J, et al. Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). J Thromb Haemost 2005; 3: 459-464.
    • (2005) J Thromb Haemost , vol.3 , pp. 459-464
    • Vossen, C.Y.1    Conard, J.2    Fontcuberta, J.3
  • 16
    • 0000662461 scopus 로고    scopus 로고
    • Incidence of venous thromboembolism in families with inherited thrombophilia
    • Simioni P, Sanson BJ, Prandoni P, et al. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost 1999; 81: 198-202.
    • (1999) Thromb Haemost , vol.81 , pp. 198-202
    • Simioni, P.1    Sanson, B.J.2    Prandoni, P.3
  • 17
    • 0032892955 scopus 로고    scopus 로고
    • Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S defi-ciency, or activated protein C resistance: A multicenter collaborative family study
    • Bucciarelli P, Rosendaal FR, Tripodi A, et al. Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S defi-ciency, or activated protein C resistance: a multicenter collaborative family study. Arterioscler Thromb Vasc Biol 1999; 19: 1026-1033.
    • (1999) Arterioscler Thromb Vasc Biol , vol.19 , pp. 1026-1033
    • Bucciarelli, P.1    Rosendaal, F.R.2    Tripodi, A.3
  • 18
    • 80053213805 scopus 로고    scopus 로고
    • In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband
    • Rossi E, Ciminello A, Za T, et al. In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband. Thromb Haemost 2011; 106: 646-654.
    • (2011) Thromb Haemost , vol.106 , pp. 646-654
    • Rossi, E.1    Ciminello, A.2    Za, T.3
  • 19
    • 0037623698 scopus 로고    scopus 로고
    • Risk of venous thromboembolism in relatives of symptomatic probands with thrombophilia: A systematic review
    • Langlois NJ, Wells PS. Risk of venous thromboembolism in relatives of symptomatic probands with thrombophilia: a systematic review. Thromb Haemost 2003; 90: 17-26.
    • (2003) Thromb Haemost , vol.90 , pp. 17-26
    • Langlois, N.J.1    Wells, P.S.2
  • 20
    • 0032829036 scopus 로고    scopus 로고
    • Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited anti-thrombin deficiency
    • van Boven HH, Vandenbroucke JP, Briët E, et al. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited anti-thrombin deficiency. Blood 1999; 94: 2590-2594.
    • (1999) Blood , vol.94 , pp. 2590-2594
    • van Boven, H.H.1    Vandenbroucke, J.P.2    Briët, E.3
  • 21
    • 0035162185 scopus 로고    scopus 로고
    • Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies
    • Tirado I, Mateo J, Soria JM, et al. Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies. Haematologica 2001; 86: 1200-1208.
    • (2001) Haematologica , vol.86 , pp. 1200-1208
    • Tirado, I.1    Mateo, J.2    Soria, J.M.3
  • 22
    • 0031916587 scopus 로고    scopus 로고
    • Increased risk of venous thrombosis in carriers of natural anticoagulant deficiencies. Results of the family studies of the Spanish Multicenter Study on Thrombophilia (EMET study)
    • Mateo J, Oliver A, Borrell M, et al. Increased risk of venous thrombosis in carriers of natural anticoagulant deficiencies. Results of the family studies of the Spanish Multicenter Study on Thrombophilia (EMET study). Blood Coagul Fi-brinolysis 1998; 9: 71-78.
    • (1998) Blood Coagul Fi-brinolysis , vol.9 , pp. 71-78
    • Mateo, J.1    Oliver, A.2    Borrell, M.3
  • 23
    • 84865165553 scopus 로고    scopus 로고
    • Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembol-ism: An observational study
    • Holzhauer S, Goldenberg NA, Junker R, et al. Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembol-ism: an observational study. Blood 2012; 120: 1510-1515.
    • (2012) Blood , vol.120 , pp. 1510-1515
    • Holzhauer, S.1    Goldenberg, N.A.2    Junker, R.3
  • 24
    • 0010736777 scopus 로고
    • Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: Review of 404 cases
    • Finazzi G, Caccia R, Barbui T. Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: review of 404 cases. Thromb Haemost 1987; 58: 1094.
    • (1987) Thromb Haemost , vol.58 , pp. 1094
    • Finazzi, G.1    Caccia, R.2    Barbui, T.3
  • 25
    • 34248350430 scopus 로고    scopus 로고
    • Antithrombin Cambridge II (A384S): An underestimated genetic risk factor for venous thrombosis
    • Corral J, Hernandez-Espinosa D, Soria JM, et al. Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. Blood 2007; 109: 4258-4263.
    • (2007) Blood , vol.109 , pp. 4258-4263
    • Corral, J.1    Hernandez-Espinosa, D.2    Soria, J.M.3
  • 26
    • 62549106201 scopus 로고    scopus 로고
    • Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis
    • Roldán V, Ordoñez A, Marín F, et al. Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis. Thromb Hae-most 2009; 101: 483-486.
    • (2009) Thromb Hae-most , vol.101 , pp. 483-486
    • Roldán, V.1    Ordoñez, A.2    Marín, F.3
  • 27
    • 33748789057 scopus 로고    scopus 로고
    • Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography
    • Pavlova A, El-Maarri O, Luxembourg B, et al. Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography. Haematologica 2006; 91: 1264-1267.
    • (2006) Haematologica , vol.91 , pp. 1264-1267
    • Pavlova, A.1    El-Maarri, O.2    Luxembourg, B.3
  • 28
    • 84865727175 scopus 로고    scopus 로고
    • Type II antithrombin deficiency caused by a large in-frame insertion: Structural, functional and pathological relevance
    • Martínez-Martínez I, Johnson DJ, Yamasaki M, et al. Type II antithrombin deficiency caused by a large in-frame insertion: structural, functional and pathological relevance. J Thromb Haemost 2012; 10: 1859-1866.
    • (2012) J Thromb Haemost , vol.10 , pp. 1859-1866
    • Martínez-Martínez, I.1    Johnson, D.J.2    Yamasaki, M.3
  • 29
    • 0038190864 scopus 로고    scopus 로고
    • Deletion of P1 arginine in a novel anti-thrombin variant (antithrombin London) abolishes inhibitory activity but enhances heparin affinity and is associated with early onset thrombosis
    • Raja SM, Chhablani N, Swanson R, et al. Deletion of P1 arginine in a novel anti-thrombin variant (antithrombin London) abolishes inhibitory activity but enhances heparin affinity and is associated with early onset thrombosis. J Biol Chem 2003; 278: 13688-13695.
    • (2003) J Biol Chem , vol.278 , pp. 13688-13695
    • Raja, S.M.1    Chhablani, N.2    Swanson, R.3
  • 30
    • 0035672995 scopus 로고    scopus 로고
    • Gene polymorphisms of the haemostatic system and the risk of arterial thrombotic disease
    • Franco RF, Reitsma PH. Gene polymorphisms of the haemostatic system and the risk of arterial thrombotic disease. Br J Haematol 2001; 115: 491-506.
    • (2001) Br J Haematol , vol.115 , pp. 491-506
    • Franco, R.F.1    Reitsma, P.H.2
  • 31
    • 55949111986 scopus 로고    scopus 로고
    • Hereditary deficiency of protein C or protein S confers increased risk of arterial thromboembolic events at a young age: Results from a large family cohort study
    • Mahmoodi BK, Brouwer JL, Veeger NJ, et al. Hereditary deficiency of protein C or protein S confers increased risk of arterial thromboembolic events at a young age: results from a large family cohort study. Circulation 2008; 118: 1659-1667.
    • (2008) Circulation , vol.118 , pp. 1659-1667
    • Mahmoodi, B.K.1    Brouwer, J.L.2    Veeger, N.J.3
  • 32
    • 0034757282 scopus 로고    scopus 로고
    • Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism
    • Kuhle S, Lane DA, Jochmanns K, et al. Homozygous antithrombin deficiency type II (99 Leu to Phe mutation) and childhood thromboembolism. Thromb Haemost 2001; 86: 1007-1011.
    • (2001) Thromb Haemost , vol.86 , pp. 1007-1011
    • Kuhle, S.1    Lane, D.A.2    Jochmanns, K.3
  • 33
    • 84860761481 scopus 로고    scopus 로고
    • Recurrent arterial thrombosis associated with the antithrombin basel variant and elevated lipoprotein(a) plasma level in an adolescent patient
    • Szilágyi S, Péter A, Magyar MT, et al. Recurrent arterial thrombosis associated with the antithrombin basel variant and elevated lipoprotein(a) plasma level in an adolescent patient. J Pediatr Hematol Oncol 2012; 34: 276-279.
    • (2012) J Pediatr Hematol Oncol , vol.34 , pp. 276-279
    • Szilágyi, S.1    Péter, A.2    Magyar, M.T.3
  • 34
    • 0035093754 scopus 로고    scopus 로고
    • Recurrent leg ulcers and arterial thrombosis in a 33-year-old homozygous variant of antithrombin
    • Shimizu K, Toriyama F, Ogawa F, et al. Recurrent leg ulcers and arterial thrombosis in a 33-year-old homozygous variant of antithrombin. Am J Hematol 2001; 66: 285-291.
    • (2001) Am J Hematol , vol.66 , pp. 285-291
    • Shimizu, K.1    Toriyama, F.2    Ogawa, F.3
  • 35
    • 44949117826 scopus 로고    scopus 로고
    • The risk of symptomatic pulmonary embolism due to proximal deep venous thrombosis differs in patients with different types of inherited thrombophilia
    • Rossi E, Za T, Ciminello A, et al. The risk of symptomatic pulmonary embolism due to proximal deep venous thrombosis differs in patients with different types of inherited thrombophilia. Thromb Haemost 2008; 99: 1030-1034.
    • (2008) Thromb Haemost , vol.99 , pp. 1030-1034
    • Rossi, E.1    Za, T.2    Ciminello, A.3
  • 36
    • 84878107751 scopus 로고    scopus 로고
    • Proteolytic modulation of factor Xa-anti-thrombin complex enhances fibrinolysis in plasma
    • Talbot K, Meixner SC, Pryzdial EL. Proteolytic modulation of factor Xa-anti-thrombin complex enhances fibrinolysis in plasma. Biochim Biophys Acta 2013; 1834: 989-995.
    • (2013) Biochim Biophys Acta , vol.1834 , pp. 989-995
    • Talbot, K.1    Meixner, S.C.2    Pryzdial, E.L.3
  • 37
    • 0034666748 scopus 로고    scopus 로고
    • Plasminogen and tissue plasminogen activator interact with anti-thrombin III
    • Dudani AK. Plasminogen and tissue plasminogen activator interact with anti-thrombin III. Thromb Res. 2000; 99: 635-641.
    • (2000) Thromb Res , vol.99 , pp. 635-641
    • Dudani, A.K.1
  • 38
    • 0027081969 scopus 로고
    • Pleiotropic effects of antithrombin strand 1C substitution mutations
    • Lane DA, Olds RJ, Conard J, et al. Pleiotropic effects of antithrombin strand 1C substitution mutations. J Clin Invest 1992; 90: 2422-2433.
    • (1992) J Clin Invest , vol.90 , pp. 2422-2433
    • Lane, D.A.1    Olds, R.J.2    Conard, J.3


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