메뉴 건너뛰기




Volumn 108, Issue 1, 2006, Pages 177-183

A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; FATTY ACID BINDING PROTEIN; GLYCINE; LYSINE; PROTEINASE INHIBITOR; PROTHROMBIN; SERINE;

EID: 33745627306     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-08-3249     Document Type: Article
Times cited : (57)

References (30)
  • 1
    • 0035159120 scopus 로고    scopus 로고
    • Genetic risk factors of venous thrombosis
    • Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Genet. 2001;109:369-384.
    • (2001) Hum Genet , vol.109 , pp. 369-384
    • Franco, R.F.1    Reitsma, P.H.2
  • 3
    • 0034161456 scopus 로고    scopus 로고
    • Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease
    • Lane DA, Grant PJ. Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease. Blood. 2000;95:1517-1532.
    • (2000) Blood , vol.95 , pp. 1517-1532
    • Lane, D.A.1    Grant, P.J.2
  • 4
    • 0033600562 scopus 로고    scopus 로고
    • The protein Z-dependent protease inhibitor is a serpin
    • Han X, Huang ZF, Fiehler R, Broze GJ Jr. The protein Z-dependent protease inhibitor is a serpin. Biochemistry. 1999;38:11073-11078.
    • (1999) Biochemistry , vol.38 , pp. 11073-11078
    • Han, X.1    Huang, Z.F.2    Fiehler, R.3    Broze Jr., G.J.4
  • 5
    • 0034329329 scopus 로고    scopus 로고
    • Characterization of the protein Z-dependent protease inhibitor
    • Han X, Fiehler R, Broze GJ Jr. Characterization of the protein Z-dependent protease inhibitor. Blood. 2000;96:3049-3055.
    • (2000) Blood , vol.96 , pp. 3049-3055
    • Han, X.1    Fiehler, R.2    Broze Jr., G.J.3
  • 6
    • 26644467924 scopus 로고    scopus 로고
    • Down-regulation of factor IXa in the factor Xase complex by protein Z-dependent protease inhibitor
    • Heeb MJ, Cabral KM, Ruan L. Down-regulation of factor IXa in the factor Xase complex by protein Z-dependent protease inhibitor. J Biol Chem. 2005;280:33819-33825.
    • (2005) J Biol Chem , vol.280 , pp. 33819-33825
    • Heeb, M.J.1    Cabral, K.M.2    Ruan, L.3
  • 7
    • 0034612374 scopus 로고    scopus 로고
    • Prothrombotic phenotype of protein Z deficiency
    • U S A
    • Yin ZF, Huang ZF, Cui J, et al. Prothrombotic phenotype of protein Z deficiency. Proc Natl Acad Sci U S A. 2000;97:6734-6738.
    • (2000) Proc Natl Acad Sci , vol.97 , pp. 6734-6738
    • Yin, Z.F.1    Huang, Z.F.2    Cui, J.3
  • 8
    • 5644235083 scopus 로고    scopus 로고
    • Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: A new form of thrombophilia
    • Van de Water N, Tan T, Ashton F, et al. Mutations within the protein Z-dependent protease inhibitor gene are associated with venous thromboembolic disease: a new form of thrombophilia. Br J Haematol. 2004;127:190-194.
    • (2004) Br J Haematol , vol.127 , pp. 190-194
    • Van De Water, N.1    Tan, T.2    Ashton, F.3
  • 9
    • 0032922694 scopus 로고    scopus 로고
    • Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: Results from a large family
    • Corral J, Zuazu-Jausoro I, Rivera J, Gonzalez-Conejero R, Ferrer F, Vicente V. Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family. Br J Haematol. 1999;105:560-563.
    • (1999) Br J Haematol , vol.105 , pp. 560-563
    • Corral, J.1    Zuazu-Jausoro, I.2    Rivera, J.3    Gonzalez-Conejero, R.4    Ferrer, F.5    Vicente, V.6
  • 10
    • 84873755208 scopus 로고
    • A method of estimating comparative rates from clinical data: Applications to cancer of the lung, breast, and cervix
    • Cornfield J. A method of estimating comparative rates from clinical data: applications to cancer of the lung, breast, and cervix. J Natl Cancer Inst. 1951;11:1269-1275.
    • (1951) J Natl Cancer Inst , vol.11 , pp. 1269-1275
    • Cornfield, J.1
  • 12
    • 0038728035 scopus 로고    scopus 로고
    • Selection of genetic markers for association analysis using linkage disequilibrium and haplotypes
    • Meng Z, Zaykin DV, Xu CF, Wagner M, Ehm MG. Selection of genetic markers for association analysis using linkage disequilibrium and haplotypes. Am J Hum Genet. 2003;73:115-130.
    • (2003) Am J Hum Genet , vol.73 , pp. 115-130
    • Meng, Z.1    Zaykin, D.V.2    Xu, C.F.3    Wagner, M.4    Ehm, M.G.5
  • 14
    • 0036155283 scopus 로고    scopus 로고
    • Score tests for association between traits and haplotypes when linkage phase is ambiguous
    • Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet. 2002;70:425-434.
    • (2002) Am J Hum Genet , vol.70 , pp. 425-434
    • Schaid, D.J.1    Rowland, C.M.2    Tines, D.E.3    Jacobson, R.M.4    Poland, G.A.5
  • 16
    • 34547118479 scopus 로고    scopus 로고
    • Accessed January 31
    • National Center for Biotechnology Information. Single Nucleotide Polymorphisms database. http://www.ncbi.nlm.nih.gov/projects/SNP/index.html. Accessed January 31, 2006.
    • (2006) Single Nucleotide Polymorphisms Database
  • 17
    • 0037143655 scopus 로고    scopus 로고
    • Crystal structures of native and thrombin-complexed heparin cofactor II reveal a multistep allosteric mechanism
    • U S A
    • Baglin TP, Carrell RW, Church FC, Esmon CT, Huntington JA. Crystal structures of native and thrombin-complexed heparin cofactor II reveal a multistep allosteric mechanism. Proc Natl Acad Sci U S A. 2002;99:11079-11084.
    • (2002) Proc Natl Acad Sci , vol.99 , pp. 11079-11084
    • Baglin, T.P.1    Carrell, R.W.2    Church, F.C.3    Esmon, C.T.4    Huntington, J.A.5
  • 18
    • 0035823595 scopus 로고    scopus 로고
    • The serpins are an expanding superfamily of structurally similar but functionally diverse proteins: Evolution, mechanism of inhibition, novel functions, and a revised nomenclature
    • Silverman GA, Bird PI, Carrell RW, et al. The serpins are an expanding superfamily of structurally similar but functionally diverse proteins: evolution, mechanism of inhibition, novel functions, and a revised nomenclature. J Biol Chem. 2001;276:33293-33296.
    • (2001) J Biol Chem , vol.276 , pp. 33293-33296
    • Silverman, G.A.1    Bird, P.I.2    Carrell, R.W.3
  • 19
    • 0346076600 scopus 로고    scopus 로고
    • What can Drosophila tell us about serpins, thrombosis and dementia?
    • Carrell R, Corral J. What can Drosophila tell us about serpins, thrombosis and dementia? Bioessays. 2004;26:1-5.
    • (2004) Bioessays , vol.26 , pp. 1-5
    • Carrell, R.1    Corral, J.2
  • 20
  • 21
    • 2142773072 scopus 로고    scopus 로고
    • Autoimmune antiphospholipid antibodies impair the inhibition of activated factor X by protein Z/protein Z-dependent protease inhibitor
    • Forastiero RR, Martinuzzo ME, Lu L, Broze GJ. Autoimmune antiphospholipid antibodies impair the inhibition of activated factor X by protein Z/protein Z-dependent protease inhibitor. J Thromb Haemost. 2003;1:1764-1770.
    • (2003) J Thromb Haemost , vol.1 , pp. 1764-1770
    • Forastiero, R.R.1    Martinuzzo, M.E.2    Lu, L.3    Broze, G.J.4
  • 23
    • 0041385595 scopus 로고    scopus 로고
    • ACTN3 genotype is associated with human elite athletic performance
    • Yang N, MacArthur DG, Gulbin JP, et al. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet. 2003;73:627-631.
    • (2003) Am J Hum Genet , vol.73 , pp. 627-631
    • Yang, N.1    MacArthur, D.G.2    Gulbin, J.P.3
  • 24
    • 23044475966 scopus 로고    scopus 로고
    • A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus
    • U S A
    • Hawn TR, Wu H, Grossman JM, Hahn BH, Tsao BP, Aderem A. A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus. Proc Natl Acad Sci U S A. 2005;102:10593-10597.
    • (2005) Proc Natl Acad Sci , vol.102 , pp. 10593-10597
    • Hawn, T.R.1    Wu, H.2    Grossman, J.M.3    Hahn, B.H.4    Tsao, B.P.5    Aderem, A.6
  • 25
    • 29144527557 scopus 로고    scopus 로고
    • A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese
    • Eslami B, Kinboshi M, Inoue S, Harada K, Inoue K, Koizumi A. A nonsense polymorphism (Y319X) of the solute carrier family 6 member 18 (SLC6A18) gene is not associated with hypertension and blood pressure in Japanese. Tohoku J Exp Med. 2006;208:25-31.
    • (2006) Tohoku J Exp Med , vol.208 , pp. 25-31
    • Eslami, B.1    Kinboshi, M.2    Inoue, S.3    Harada, K.4    Inoue, K.5    Koizumi, A.6
  • 26
    • 20244379702 scopus 로고    scopus 로고
    • Familial cancer associated with a polymorphism in ARLTS1
    • Calin GA, Trapasso F, Shimizu M, et al. Familial cancer associated with a polymorphism in ARLTS1. N Engl J Med. 2005;352:1667-1676.
    • (2005) N Engl J Med , vol.352 , pp. 1667-1676
    • Calin, G.A.1    Trapasso, F.2    Shimizu, M.3
  • 27
    • 0033045702 scopus 로고    scopus 로고
    • Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan
    • Kira R, Ihara K, Watanabe K, et al. Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan. J Hum Genet. 1999;44:109-111.
    • (1999) J Hum Genet , vol.44 , pp. 109-111
    • Kira, R.1    Ihara, K.2    Watanabe, K.3
  • 28
    • 0037011795 scopus 로고    scopus 로고
    • Alpha1-antitrypsin deficiency: A model for conformational diseases
    • Carrell RW, Lomas DA. Alpha1-antitrypsin deficiency: a model for conformational diseases. N Engl J Med. 2002;346:45-53.
    • (2002) N Engl J Med , vol.346 , pp. 45-53
    • Carrell, R.W.1    Lomas, D.A.2
  • 29
    • 4444233600 scopus 로고    scopus 로고
    • Homozygous deficiency of heparin cofactor II: Relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis
    • Corral J, Aznar J, Gonzalez-Conejero R, et al. Homozygous deficiency of heparin cofactor II: relevance of P17 glutamate residue in serpins, relationship with conformational diseases, and role in thrombosis. Circulation. 2004;110:1303-1307.
    • (2004) Circulation , vol.110 , pp. 1303-1307
    • Corral, J.1    Aznar, J.2    Gonzalez-Conejero, R.3
  • 30
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.