메뉴 건너뛰기




Volumn 127 127, Issue 7-8, 2017, Pages 512-523

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients

Author keywords

Antithrombin; Polish patients; Protein c; Protein s; Venous thromboembolism

Indexed keywords

ANTITHROMBIN; PROTEIN C; PROTEIN S; ANTITHROMBIN III; PLASMA PROTEIN; PROS1 PROTEIN, HUMAN; SERPINC1 PROTEIN, HUMAN;

EID: 85027411271     PISSN: 00323772     EISSN: 18979483     Source Type: Journal    
DOI: 10.20452/pamw.4045     Document Type: Article
Times cited : (42)

References (47)
  • 1
    • 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 Haemotol. 1994; 87: 106-112.
    • (1994) Br J Haemotol , vol.87 , pp. 106-112
    • Tait, R.C.1    Walker, I.D.2    Perry, D.J.3
  • 2
    • 40349088826 scopus 로고    scopus 로고
    • Thrombophilias: When should we test and how does it help?
    • Whitlatch NL, Ortel TL. Thrombophilias: When should we test and how does it help? Semin Respir Crit Care Med. 2008; 29: 25-39.
    • (2008) Semin Respir Crit Care Med , vol.29 , pp. 25-39
    • Whitlatch, N.L.1    Ortel, T.L.2
  • 4
    • 85014126987 scopus 로고    scopus 로고
    • Managing challenging patients with venous thromboembolism: A practical, case-based approach
    • Douketis J, Ageno W, Carrier M, et al. Managing challenging patients with venous thromboembolism: A practical, case-based approach. Pol Arch Intern Med. 2017; 1:41-46.
    • (2017) Pol Arch Intern Med , vol.1 , pp. 41-46
    • Douketis, J.1    Ageno, W.2    Carrier, M.3
  • 5
    • 84994226102 scopus 로고    scopus 로고
    • Optimizing the safety of treatment for venous thromboembolism in the era of direct oral anticoagulants
    • Weitz JI, Jaffer IH. Optimizing the safety of treatment for venous thromboembolism in the era of direct oral anticoagulants. Pol Arch Med Wewn. 2016; 9: 688-696.
    • (2016) Pol Arch Med Wewn , vol.9 , pp. 688-696
    • Weitz, J.I.1    Jaffer, I.H.2
  • 6
    • 84928598513 scopus 로고    scopus 로고
    • Natural anticoagulants deficiency and the risk of venous thromboembolism: A meta-Analysis of observational studies
    • Di Minno MN, Ambrosino P, Ageno W, et al. Natural anticoagulants deficiency and the risk of venous thromboembolism: A meta-Analysis of observational studies. Thromb Res. 2015; 5: 923-932.
    • (2015) Thromb Res. , vol.5 , pp. 923-932
    • Di Minno, M.N.1    Ambrosino, P.2    Ageno, W.3
  • 7
    • 84938198885 scopus 로고    scopus 로고
    • Epidemiology of venous thromboembolism
    • Heit JA. Epidemiology of venous thromboembolism Nat Rev Cardiol. 2015; 8: 464-474.
    • (2015) Nat Rev Cardiol , vol.8 , pp. 464-474
    • Heit, J.A.1
  • 8
    • 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, van der Meer J. 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    Van Der Meer, J.4
  • 9
    • 84869118929 scopus 로고    scopus 로고
    • Left main coronary artery thrombus resulting from combined protein C and S deficiency
    • Sayin MR, Akpinar I, Karabag T, et al. Left main coronary artery thrombus resulting from combined protein C and S deficiency. Intern Med. 2012; 51: 3041-3044.
    • (2012) Intern Med , vol.51 , pp. 3041-3044
    • Sayin, M.R.1    Akpinar, I.2    Karabag, T.3
  • 10
    • 55949104988 scopus 로고    scopus 로고
    • Inherited antithrombin deficiency: A review
    • Patnaik M, Moll S. Inherited antithrombin deficiency: A review. Haemophilia. 2008; 14: 1229-1239.
    • (2008) Haemophilia , vol.14 , pp. 1229-1239
    • Patnaik, M.1    Moll, S.2
  • 11
    • 18244417756 scopus 로고    scopus 로고
    • Molecular recognition in the protein C anticoagulant pathway
    • Dahlbäck B, Villoutreix BO. Molecular recognition in the protein C anticoagulant pathway. J Thromb Haemost. 2003; 1: 1525-1534.
    • (2003) J Thromb Haemost , vol.1 , pp. 1525-1534
    • Dahlbäck, B.1    Villoutreix, B.O.2
  • 12
    • 0022929854 scopus 로고
    • Inhibition of protein C cofactor function of human and bovine protein S by C4b-binding protein
    • Dahlbäck B. Inhibition of protein C cofactor function of human and bovine protein S by C4b-binding protein. J Biol Chem. 1986; 261: 12022-12027.
    • (1986) J Biol Chem , vol.261 , pp. 12022-12027
    • Dahlbäck, B.1
  • 13
    • 42449084553 scopus 로고    scopus 로고
    • Re-evaluation of the role of the protein S-C4b binding protein complex in activated protein C-catalyzed factor Va-inactivation
    • Maurissen LFA, Thomassen MC, Nicolaes GAF, et al. Re-evaluation of the role of the protein S-C4b binding protein complex in activated protein C-catalyzed factor Va-inactivation. Blood. 2008; 111: 3034-3041.
    • (2008) Blood , vol.111 , pp. 3034-3041
    • Maurissen, L.F.A.1    Thomassen, M.C.2    Nicolaes, G.A.F.3
  • 15
  • 16
    • 84864343510 scopus 로고    scopus 로고
    • Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort
    • Caspers M, Pavlova A, Driesen J, et al. Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort. Thromb Haemost. 2012; 2: 247-257.
    • (2012) Thromb Haemost , vol.2 , pp. 247-257
    • Caspers, M.1    Pavlova, A.2    Driesen, J.3
  • 17
    • 80755189500 scopus 로고    scopus 로고
    • Genetic analysis of inherited antithrombin deficiency in 18 Polish families
    • Polish
    • Odnoczko E, Vertun-Baranowska B, Buczma A, et al. [Genetic analysis of inherited antithrombin deficiency in 18 Polish families]. Acta Haematol Pol. 2011; 42: 519-524. Polish.
    • (2011) Acta Haematol Pol , vol.42 , pp. 519-524
    • Odnoczko, E.1    Vertun-Baranowska, B.2    Buczma, A.3
  • 18
    • 79961046359 scopus 로고    scopus 로고
    • Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow)
    • Celinska-Lowenhoff M, Iwaniec T, Alhenc-Gelas M, et al. Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow). Thromb Haemost. 2011; 2: 379-381.
    • (2011) Thromb Haemost , vol.2 , pp. 379-381
    • Celinska-Lowenhoff, M.1    Iwaniec, T.2    Alhenc-Gelas, M.3
  • 19
    • 84883263094 scopus 로고    scopus 로고
    • A missense mutation G109R in the PROC gene associated with type I protein C deficiency in a young Polish man with acute myocardial infarction
    • Wypasek E, Pankiw-Bembenek O, Potaczek DP, et al. A missense mutation G109R in the PROC gene associated with type I protein C deficiency in a young Polish man with acute myocardial infarction. Int J Cardiol. 2013; 5: 46-48.
    • (2013) Int J Cardiol , vol.5 , pp. 46-48
    • Wypasek, E.1    Pankiw-Bembenek, O.2    Potaczek, D.P.3
  • 20
    • 84881311277 scopus 로고    scopus 로고
    • First report of a large PROS1 deletion from exon 1 through 12 detected in Polish patients with deep-vein thrombosis
    • Wypasek E, Alhenc-Gelas M, Undas A. First report of a large PROS1 deletion from exon 1 through 12 detected in Polish patients with deep-vein thrombosis. Thromb Res. 2013; 1: 143-144.
    • (2013) Thromb Res , vol.1 , pp. 143-144
    • Wypasek, E.1    Alhenc-Gelas, M.2    Undas, A.3
  • 21
    • 84875672643 scopus 로고    scopus 로고
    • Third universal definition of myocardial infarction
    • Taylor J. Third universal definition of myocardial infarction. Eur Heart J. 2012; 20: 2506-2507.
    • (2012) Eur Heart J , vol.20 , pp. 2506-2507
    • Taylor, J.1
  • 22
    • 84885452145 scopus 로고    scopus 로고
    • Protein C and protein S deficiency - practical diagnostic issues
    • Wypasek E, Undas A. Protein C and protein S deficiency - practical diagnostic issues. Adv Clin Exp Med. 2013; 4: 459-467.
    • (2013) Adv Clin Exp Med , vol.4 , pp. 459-467
    • Wypasek, E.1    Undas, A.2
  • 23
    • 85006747536 scopus 로고    scopus 로고
    • Direct oral anticoagulants in patients with thrombophilia: Challenges in diagnostic evaluation and treatment
    • Undas A, Góralczyk T. Direct oral anticoagulants in patients with thrombophilia: challenges in diagnostic evaluation and treatment. Adv Clin Exp Med. 2016; 6: 1321-1330.
    • (2016) Adv Clin Exp Med , vol.6 , pp. 1321-1330
    • Undas, A.1    Góralczyk, T.2
  • 24
    • 0030037196 scopus 로고    scopus 로고
    • Molecular genetics of antithrombin deficiency
    • Lane DA, Kunz G, Olds RJ, et al. Molecular genetics of antithrombin deficiency. Blood Rev. 1996; 10: 59-74.
    • (1996) Blood Rev , vol.10 , pp. 59-74
    • Lane, D.A.1    Kunz, G.2    Olds, R.J.3
  • 25
    • 79251610964 scopus 로고    scopus 로고
    • Protein C and protein S deficiencies: Similarities and differences between two brothers playing in the same game
    • Bereczky Z, Kovács KB, Muszbek L. Protein C and protein S deficiencies: similarities and differences between two brothers playing in the same game. Clin Chem Lab Med. 2010; 48: 53-66.
    • (2010) Clin Chem Lab Med , vol.48 , pp. 53-66
    • Bereczky, Z.1    Kovács, K.B.2    Muszbek, L.3
  • 26
    • 85019587786 scopus 로고    scopus 로고
    • High levels of latent antithrombin in plasma from patients with antithrombin deficiency
    • de la Morena-Barrio M, Sandoval E, Llamas P, et al. High levels of latent antithrombin in plasma from patients with antithrombin deficiency. Thromb Haemost. 2017; 2017; 117: 880-888.
    • (2017) Thromb Haemost , vol.2017 , Issue.117 , pp. 880-888
    • De La Morena-Barrio, M.1    Sandoval, E.2    Llamas, P.3
  • 27
    • 0033983871 scopus 로고    scopus 로고
    • Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S
    • Alhenc-Gelas M, Gandrille S, Aubry ML, et al. Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S. Thromb Haemost. 2000; 83: 86-92.
    • (2000) Thromb Haemost , vol.83 , pp. 86-92
    • Alhenc-Gelas, M.1    Gandrille, S.2    Aubry, M.L.3
  • 28
    • 34247145105 scopus 로고    scopus 로고
    • Influence of PROS1 gene mutations affecting protein S amino-Acid 275 on plasma free protein S measurement
    • Alhenc Gelas M, Juin F, de Raucourt E, et al. Influence of PROS1 gene mutations affecting protein S amino-Acid 275 on plasma free protein S measurement. Thromb Haemost. 2007; 97: 678-680.
    • (2007) Thromb Haemost , vol.97 , pp. 678-680
    • Alhenc, G.M.1    Juin, F.2    De Raucourt, E.3
  • 29
    • 84871052208 scopus 로고    scopus 로고
    • Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia
    • de la Morena-Barrio ME, Sevivas TS, Martinez-Martinez I, et al. Congenital disorder of glycosylation (PMM2-CDG) in a patient with antithrombin deficiency and severe thrombophilia. J Thromb Haemost. 2012; 12: 2625-2627.
    • (2012) J Thromb Haemost , vol.12 , pp. 2625-2627
    • De La Morena-Barrio, M.E.1    Sevivas, T.S.2    Martinez-Martinez, I.3
  • 30
    • 13244295561 scopus 로고    scopus 로고
    • Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis
    • Corral J, Huntington JA, Gonzalez-Conejero R, et al. Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis. J Thromb Haemost. 2004; 6: 931-939.
    • (2004) J Thromb Haemost , vol.6 , pp. 931-939
    • Corral, J.1    Huntington, J.A.2    Gonzalez-Conejero, R.3
  • 31
    • 0043245935 scopus 로고    scopus 로고
    • Antithrombin F229L: 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 F229L: A new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. Blood. 2003; 102: 919-925.
    • (2003) Blood , vol.102 , pp. 919-925
    • Picard, V.1    Dautzenberg, M.D.2    Villoutreix, B.O.3
  • 32
    • 0034768820 scopus 로고    scopus 로고
    • Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency
    • Fitches AC, Lewandowski K, Olds RJ. Creation of an additional glycosylation site as a mechanism for type I antithrombin deficiency. Thromb Haemost. 2001; 4:1023-1027.
    • (2001) Thromb Haemost , vol.4 , pp. 1023-1027
    • Fitches, A.C.1    Lewandowski, K.2    Olds, R.J.3
  • 33
    • 84860205974 scopus 로고    scopus 로고
    • Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population
    • Tang L, Guo T, Yang R, et al. Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. PLoS One. 2012; 4: E35773.
    • (2012) PLoS One , vol.4 , pp. e35773
    • Tang, L.1    Guo, T.2    Yang, R.3
  • 34
    • 33749378618 scopus 로고    scopus 로고
    • Multifunctional specificity of the protein C/activated protein C Gla domain
    • Preston RJ, Ajzner E, Razzari C et al. Multifunctional specificity of the protein C/activated protein C Gla domain. J Biol Chem. 2006; 39: 28850-28857.
    • (2006) J Biol Chem , vol.39 , pp. 28850-28857
    • Preston, R.J.1    Ajzner, E.2    Razzari, C.3
  • 35
    • 33748867550 scopus 로고    scopus 로고
    • Genetic background of type I protein C deficiency in Finland
    • Kuismanen K, Levo A, Vahtera E, et al. Genetic background of type I protein C deficiency in Finland. Thromb Res. 2006; 5: 603-609.
    • (2006) Thromb Res , vol.5 , pp. 603-609
    • Kuismanen, K.1    Levo, A.2    Vahtera, E.3
  • 36
    • 0029000452 scopus 로고
    • Amino acids 225-235∗∗ of the protein C serine-protease domain are important for the interaction with the thrombin-thrombomodulin complex
    • Vincenot A, Gaussem P, Pittet JL, et al. Amino acids 225-235∗∗ of the protein C serine-protease domain are important for the interaction with the thrombin-thrombomodulin complex. FEBS Lett. 1995; 2: 153-157.
    • (1995) FEBS Lett , vol.2 , pp. 153-157
    • Vincenot, A.1    Gaussem, P.2    Pittet, J.L.3
  • 37
    • 0028272127 scopus 로고
    • Severe homozygous protein C deficiency: Identification of a splice site missense mutation (184, Q->H) in exon 7 of the protein C gene
    • Soria JM, Brito D, Barceló J, et al. Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q->H) in exon 7 of the protein C gene. Thromb Haemost. 1994; 1: 65-69.
    • (1994) Thromb Haemost , vol.1 , pp. 65-69
    • Soria, J.M.1    Brito, D.2    Barceló, J.3
  • 38
    • 34047219896 scopus 로고    scopus 로고
    • Identification and computationally-based structural interpretation of naturally occurring variants of human protein C
    • Rovida E, Merati G, D'Ursi P, et al. Identification and computationally-based structural interpretation of naturally occurring variants of human protein C. Hum Mutat. 2007; 4: 345-355.
    • (2007) Hum Mutat , vol.4 , pp. 345-355
    • Rovida, E.1    Merati, G.2    D'Ursi, P.3
  • 39
    • 84894183623 scopus 로고    scopus 로고
    • Novel missense mutation C106R in the PROC gene associated with type I protein C deficiency in a young Polish man with high-risk pulmonary embolism
    • Wypasek E, Potaczek DP, Alhenc-Gelas M, et al. Novel missense mutation C106R in the PROC gene associated with type I protein C deficiency in a young Polish man with high-risk pulmonary embolism. Pol Arch Med Wewn. 2014; 1-2: 75-76.
    • (2014) Pol Arch Med Wewn , vol.1-2 , pp. 75-76
    • Wypasek, E.1    Potaczek, D.P.2    Alhenc-Gelas, M.3
  • 40
    • 0030848632 scopus 로고    scopus 로고
    • The high affinity calcium-binding sites in the epidermal growth factor module region of Vitamin K-dependent protein S
    • Stenberg Y, Linse S, Drakenberg T, et al. The high affinity calcium-binding sites in the epidermal growth factor module region of vitamin K-dependent protein S. J Biol Chem. 1997; 37: 23255-23260.
    • (1997) J Biol Chem , vol.37 , pp. 23255-23260
    • Stenberg, Y.1    Linse, S.2    Drakenberg, T.3
  • 41
    • 0034533273 scopus 로고    scopus 로고
    • The interaction between anticoagulant protein S and complement regulatory C4b-binding protein (C4BP)
    • van de Poel RH, Meijers JC, Bouma BN. The interaction between anticoagulant protein S and complement regulatory C4b-binding protein (C4BP). Trends Cardiovasc Med. 2000; 2: 71-76.
    • (2000) Trends Cardiovasc Med , vol.2 , pp. 71-76
    • Van De Poel, R.H.1    Meijers, J.C.2    Bouma, B.N.3
  • 42
    • 0037342687 scopus 로고    scopus 로고
    • A quantitative trait locus influencing free plasma protein S levels on human chromosome 1q: Results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project
    • Almasy L, Soria JM, Souto JC, et al. A quantitative trait locus influencing free plasma protein S levels on human chromosome 1q: Results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) project. Arterioscler Thromb Vasc Biol. 2003; 23: 508-511.
    • (2003) Arterioscler Thromb Vasc Biol , vol.23 , pp. 508-511
    • Almasy, L.1    Soria, J.M.2    Souto, J.C.3
  • 43
    • 3042853035 scopus 로고    scopus 로고
    • Protein C levels are regulated by a quantitative trait locus on chromosome 16: Results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project
    • Buil A, Soria JM, Souto JC, et al. Protein C levels are regulated by a quantitative trait locus on chromosome 16: Results from the Genetic Analysis of Idiopathic Thrombophilia (GAIT) Project. Arterioscler Thromb Vasc Biol. 2004; 24: 1321-1325.
    • (2004) Arterioscler Thromb Vasc Biol , vol.24 , pp. 1321-1325
    • Buil, A.1    Soria, J.M.2    Souto, J.C.3
  • 44
    • 84894588194 scopus 로고    scopus 로고
    • Functional analysis of two haplotypes of the human endothelial protein C receptor gene
    • Medina P, Navarro S, Bonet E, et al. Functional analysis of two haplotypes of the human endothelial protein C receptor gene. Arterioscler Thromb Vasc Biol. 2014; 3: 684-690.
    • (2014) Arterioscler Thromb Vasc Biol , vol.3 , pp. 684-690
    • Medina, P.1    Navarro, S.2    Bonet, E.3
  • 45
    • 33846028515 scopus 로고    scopus 로고
    • Polymorphisms in Vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population
    • Kimura R, Kokubo Y, Miyashita K, et al. Polymorphisms in vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population. Int J Hematol. 2006; 84: 387-397.
    • (2006) Int J Hematol , vol.84 , pp. 387-397
    • Kimura, R.1    Kokubo, Y.2    Miyashita, K.3
  • 46
    • 0037085777 scopus 로고    scopus 로고
    • Discrepancy between antithrombin activity methods revealed in Antithrombin Stockholm: Do factor Xa-based methods overestimate antithrombin activity in some patients?
    • Ungerstedt JS, Schulman S, Egberg N, et al. Discrepancy between antithrombin activity methods revealed in Antithrombin Stockholm: do factor Xa-based methods overestimate antithrombin activity in some patients? Blood. 2002; 6: 2271-2272.
    • (2002) Blood , vol.6 , pp. 2271-2272
    • Ungerstedt, J.S.1    Schulman, S.2    Egberg, N.3
  • 47
    • 78649524580 scopus 로고    scopus 로고
    • Laboratory tests for antithrombin deficiency
    • Khor B, Van Cott EM. Laboratory tests for antithrombin deficiency. Am J Hematol. 2010; 85: 947-950.
    • (2010) Am J Hematol , vol.85 , pp. 947-950
    • Khor, B.1    Van Cott, E.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.