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Volumn 22, Issue 9, 2007, Pages 2546-2553

Genetic polymorphisms on the factor V gene in women with recurrent miscarriage and acquired APCR

Author keywords

Acquired APCR; Factor V; Polymorphisms; Recurrent miscarriage

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN;

EID: 34548064770     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dem210     Document Type: Article
Times cited : (16)

References (43)
  • 1
    • 0037079738 scopus 로고    scopus 로고
    • Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene
    • Ajzner E, Balogh I, Szabo T, Marosi A, Haramura G, Muszbek L. Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT 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.1    Balogh, I.2    Szabo, T.3    Marosi, A.4    Haramura, G.5    Muszbek, L.6
  • 3
    • 0030860494 scopus 로고    scopus 로고
    • A factor V genetic component differing from factor VR506Q contributes to the activated protein C resistance phenotype
    • Bernardi F, Faioni EM, Castoldi B. Lunghi B, Castaman G, Sacchi E, Mannucci PM. A factor V genetic component differing from factor VR506Q contributes to the activated protein C resistance phenotype. Blood 1997;90:1552-1557.
    • (1997) Blood , vol.90 , pp. 1552-1557
    • Bernardi, F.1    Faioni, E.M.2    Castoldi, B.3    Lunghi, B.4    Castaman, G.5    Sacchi, E.6    Mannucci, P.M.7
  • 6
    • 0032520034 scopus 로고    scopus 로고
    • A novel mutation of Arg 306 of factor V gene in Hong Kong Chinese
    • Chan WP, Lee CK, Kwong YL, Lam CK, Liang R. A novel mutation of Arg 306 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
  • 8
    • 0018909419 scopus 로고
    • Human coagulation factor V purification and thrombin-catalyzed activation
    • Dahlback B. Human coagulation 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
  • 9
    • 0041334192 scopus 로고    scopus 로고
    • Acquired activated protein C resistance may be a risk factor for recurrent fetal loss
    • Dawood F, Farquharson R, Quenby S, Toh CH. Acquired activated protein C resistance may be a risk factor for recurrent fetal loss. Fertil Steril 2003;80:649-650.
    • (2003) Fertil Steril , vol.80 , pp. 649-650
    • Dawood, F.1    Farquharson, R.2    Quenby, S.3    Toh, C.H.4
  • 10
    • 0030963627 scopus 로고    scopus 로고
    • Fetal carriers of the factor V Leiden mutation are prone to miscarriage and placental infarction
    • Dizon-Townson DS, Moline L, Nelson LM, Varner M, Ward K. Fetal carriers of the factor V Leiden mutation are prone to miscarriage and placental infarction. Am J Obstet Gynecol 1997;177:402-405.
    • (1997) Am J Obstet Gynecol , vol.177 , pp. 402-405
    • Dizon-Townson, D.S.1    Moline, L.2    Nelson, L.M.3    Varner, M.4    Ward, K.5
  • 11
    • 0026658031 scopus 로고
    • Cellular and molecular regulation of factor V expression in human megakaryocytes
    • Gewirtz AM, Shapiro C, Shen YM, Boyd R, Colman RW. Cellular and molecular regulation of factor V expression in human megakaryocytes. J Cell Physiol 1992;153:277-287.
    • (1992) J Cell Physiol , vol.153 , pp. 277-287
    • Gewirtz, A.M.1    Shapiro, C.2    Shen, Y.M.3    Boyd, R.4    Colman, R.W.5
  • 14
    • 0037044806 scopus 로고    scopus 로고
    • Disruption of the endothelial cell protein C receptor gene in mice causes placental thrombosis and early embryonic lethality
    • Gu JM, Crawley JT, Ferrell G, Zhang F, Li W, Esmon NL, Esmon CT. Disruption of the endothelial cell protein C receptor gene in mice causes placental thrombosis and early embryonic lethality. J Biol Chem 2002;277:43335-43343.
    • (2002) J Biol Chem , vol.277 , pp. 43335-43343
    • Gu, J.M.1    Crawley, J.T.2    Ferrell, G.3    Zhang, F.4    Li, W.5    Esmon, N.L.6    Esmon, C.T.7
  • 15
    • 0008912897 scopus 로고    scopus 로고
    • Jenny R, Pittman D, Toole J, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ. Mann KG. Complete cDNA and derived amino acid sequence of human FV. Proc Natl Acad Sci USA 1987;84:4846-4850.
    • Jenny R, Pittman D, Toole J, Kriz RW, Aldape RA, Hewick RM, Kaufman RJ. Mann KG. Complete cDNA and derived amino acid sequence of human FV. Proc Natl Acad Sci USA 1987;84:4846-4850.
  • 16
    • 34247880422 scopus 로고    scopus 로고
    • Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage
    • Kaare M, Ulander VM, Painter JN, Ahvenainen T, Kaaja R, Aittomaiki K. Variations in the thrombomodulin and endothelial protein C receptor genes in couples with recurrent miscarriage. Hum Reprod 2007;22 864-868.
    • (2007) Hum Reprod , vol.22 , pp. 864-868
    • Kaare, M.1    Ulander, V.M.2    Painter, J.N.3    Ahvenainen, T.4    Kaaja, R.5    Aittomaiki, K.6
  • 18
    • 0033531184 scopus 로고    scopus 로고
    • Increased frequency of genetic thrombophilia in women with complications of pregnancy
    • Kupferminc MJ, Eldor A, Steiman N, Many A, Bar-Am A, Jaffa A. Increased frequency of genetic thrombophilia in women with complications of pregnancy. NEJM 1999;340:9-13.
    • (1999) NEJM , vol.340 , pp. 9-13
    • Kupferminc, M.J.1    Eldor, A.2    Steiman, N.3    Many, A.4    Bar-Am, A.5    Jaffa, A.6
  • 19
    • 0037394911 scopus 로고    scopus 로고
    • Procoagulant and anticoagulant mechanisms in human placenta
    • Lanir N, Aharon A, Brenner B. Procoagulant and anticoagulant mechanisms in human placenta. Semin Thromb Hemost 2003;2:175-184.
    • (2003) Semin Thromb Hemost , vol.2 , pp. 175-184
    • Lanir, N.1    Aharon, A.2    Brenner, B.3
  • 20
    • 33645578365 scopus 로고    scopus 로고
    • Activated protein C resistance- in absence of factor V Leiden- and pregnancy
    • Lindqvist PG, Svensson P, Dahlback B. Activated protein C resistance- in absence of factor V Leiden- and pregnancy. J Thromb Haemos 2006; 4:361-366.
    • (2006) J Thromb Haemos , vol.4 , pp. 361-366
    • Lindqvist, P.G.1    Svensson, P.2    Dahlback, B.3
  • 21
    • 0029941850 scopus 로고    scopus 로고
    • Comparison of activated protein C/ protein S-mediated inactivation of human factor VIII and factor V
    • Lu D, Kalfatis M, Mann KG, Long GL. Comparison of activated protein C/ protein S-mediated inactivation of human factor VIII and factor V. Blood 1996;87:4708.
    • (1996) Blood , vol.87 , pp. 4708
    • Lu, D.1    Kalfatis, M.2    Mann, K.G.3    Long, G.L.4
  • 22
    • 0033972844 scopus 로고    scopus 로고
    • The factor V R2 allele:rIsk of venous thromboembolism, factor V levels and resistance to activated protein C
    • Luddington R, Jackson A, Pannerselvam S, Brwon K, Baglin T. The factor V R2 allele:rIsk of venous thromboembolism, factor V levels and resistance to activated protein C. Thromb Haemost 2000;83:204-208.
    • (2000) Thromb Haemost , vol.83 , pp. 204-208
    • Luddington, R.1    Jackson, A.2    Pannerselvam, S.3    Brwon, K.4    Baglin, T.5
  • 23
    • 0031975409 scopus 로고    scopus 로고
    • A new factor V gene polymorphism (His 1254 Arg) present in subjects of African origin mimics the R2 polymorphism. (His 1299 Arg)
    • Lunghi B, Castoldi E, Mingozzi F, Bernardi F. A new factor V gene polymorphism (His 1254 Arg) present in subjects of African origin mimics the R2 polymorphism. (His 1299 Arg). Blood 1998;91:364-365.
    • (1998) Blood , vol.91 , pp. 364-365
    • Lunghi, B.1    Castoldi, E.2    Mingozzi, F.3    Bernardi, F.4
  • 25
    • 0033868908 scopus 로고    scopus 로고
    • Do placental lesions reflect thrombophilia state in women with adverse pregnancy outcome?
    • Mousa HA, Alfirevic Z. Do placental lesions reflect thrombophilia state in women with adverse pregnancy outcome? Hum Reprod 2000;8 1830-1833.
    • (2000) Hum Reprod , vol.8 , pp. 1830-1833
    • Mousa, H.A.1    Alfirevic, Z.2
  • 26
    • 0034995296 scopus 로고    scopus 로고
    • The factor V HR2 haplotype: Prevalence and association of the A4070G and A6755G polymorphisms
    • Pecheniuk NM, Morris CP, Walsh TP, Marsh NA. The factor V HR2 haplotype: prevalence and association of the A4070G and A6755G polymorphisms. Blood Coagul Fibrinolyis 2001;12:201-206.
    • (2001) Blood Coagul Fibrinolyis , vol.12 , pp. 201-206
    • Pecheniuk, N.M.1    Morris, C.P.2    Walsh, T.P.3    Marsh, N.A.4
  • 27
    • 0028241866 scopus 로고
    • Post-translational requirements for functional factor V and factor VIII secretion in mammalian cells
    • Pittman DD, Tomkinson KN, Kaufman RJ. Post-translational requirements for functional factor V and factor VIII secretion in mammalian cells. J Biol Chem 1994;269:17329.
    • (1994) J Biol Chem , vol.269 , pp. 17329
    • Pittman, D.D.1    Tomkinson, K.N.2    Kaufman, R.J.3
  • 28
    • 0035017316 scopus 로고    scopus 로고
    • Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage
    • Rai R, Shlebak A, Cohen H, Backos M, Holmes Z, Marriott K, Regan L. Factor V Leiden and acquired activated protein C resistance among 1000 women with recurrent miscarriage. Hum Reprod 2001;16:961-965.
    • (2001) Hum Reprod , vol.16 , pp. 961-965
    • Rai, R.1    Shlebak, A.2    Cohen, H.3    Backos, M.4    Holmes, Z.5    Marriott, K.6    Regan, L.7
  • 29
    • 0037443934 scopus 로고    scopus 로고
    • Thrombophilic disorders and fetal loss: A meta-analysis
    • Rey E, Kahn SR, David M, Shrier I. Thrombophilic disorders and fetal loss: A meta-analysis. Lancet 2003;361:901-908.
    • (2003) Lancet , vol.361 , pp. 901-908
    • Rey, E.1    Kahn, S.R.2    David, M.3    Shrier, I.4
  • 30
    • 0030832735 scopus 로고    scopus 로고
    • Rosing J, Tans G. Factor V. Int J Biochem Cell Biol 1997;29 1123-1126.
    • Rosing J, Tans G. Factor V. Int J Biochem Cell Biol 1997;29 1123-1126.
  • 31
    • 0036149892 scopus 로고    scopus 로고
    • Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage
    • Sarig G, Younis JS, Hoffman R, Lanir N, Blumenfeld Z, Brenner B. Thrombophilia is common in women with idiopathic pregnancy loss and is associated with late pregnancy wastage. Fertil Steril 2002;77 342-347.
    • (2002) Fertil Steril , vol.77 , pp. 342-347
    • Sarig, G.1    Younis, J.S.2    Hoffman, R.3    Lanir, N.4    Blumenfeld, Z.5    Brenner, B.6
  • 32
    • 0035205945 scopus 로고    scopus 로고
    • Investigation of genotype-dependent differences in factor V activity as well as response to activated protein C by application of different methods
    • Siegert G, Kostka H, Kuhlisch E, Swartz T, Schellong SM, Jaross W. Investigation of genotype-dependent differences in factor V activity as well as response to activated protein C by application of different methods. Blood Coagul Fibrinolysis 2001;12:683-690.
    • (2001) Blood Coagul Fibrinolysis , vol.12 , pp. 683-690
    • Siegert, G.1    Kostka, H.2    Kuhlisch, E.3    Swartz, T.4    Schellong, S.M.5    Jaross, W.6
  • 33
    • 0036547768 scopus 로고    scopus 로고
    • Placental pathology in early onset pre-eclampsia and intra-uterine growth restriction in women with and without thrombophilia
    • Sikkema JM, Franx A, Bruinse HW, van der Wijk NG, de Valk HW, Nikkels PG. Placental pathology in early onset pre-eclampsia and intra-uterine growth restriction in women with and without thrombophilia. Placenta 2002;4:337-342.
    • (2002) Placenta , vol.4 , pp. 337-342
    • Sikkema, J.M.1    Franx, A.2    Bruinse, H.W.3    van der Wijk, N.G.4    de Valk, H.W.5    Nikkels, P.G.6
  • 35
    • 0037222236 scopus 로고    scopus 로고
    • A new locus on chromosome 18 that influences normal variation in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility
    • Soria JM, Almasy L, Souto JC, Buil A, Martinez- Snachez E, Mateo J, Borrell M, Stone WH, Lathrop M, Fontcuberta et al. A new locus on chromosome 18 that influences normal variation in activated protein C resistance phenotype and factor VIII activity and its relation to thrombosis susceptibility. Blood 2003;101:163-167.
    • (2003) Blood , vol.101 , pp. 163-167
    • Soria, J.M.1    Almasy, L.2    Souto, J.C.3    Buil, A.4    Martinez- Snachez, E.5    Mateo, J.6    Borrell, M.7    Stone, W.H.8    Lathrop, M.9    Fontcuberta10
  • 36
    • 0025708282 scopus 로고
    • Recurrent miscarriage: Definition and epidemiology
    • Stirrat GM. Recurrent miscarriage: Definition and epidemiology. Lancet 1990;336:673-675.
    • (1990) Lancet , vol.336 , pp. 673-675
    • Stirrat, G.M.1
  • 37
    • 0033040275 scopus 로고    scopus 로고
    • A possible role for activated protein C resistance in patients with first and second trimester pregnancy failure
    • Tal J, Schliamser LM, Leibovitz Z, Ohel G, Attias D. A possible role for activated protein C resistance in patients with first and second trimester pregnancy failure. Hum Rep 1999;14:1624-1627.
    • (1999) Hum Rep , vol.14 , pp. 1624-1627
    • Tal, J.1    Schliamser, L.M.2    Leibovitz, Z.3    Ohel, G.4    Attias, D.5
  • 39
    • 0019977242 scopus 로고
    • Radioimmunoassay of factor V in human plasma and platelets
    • Tracy PB, Eide LL, Bowie FJW, 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, F.J.W.3    Mann, K.G.4
  • 41
    • 0032520041 scopus 로고    scopus 로고
    • Williamson D, Brown K, Luddington R, Baglin C, Baglin I. FV Cambridge: A new mutation (Arg306Thr) associated with the resistance to activated protein C. Blood 1999;91:1140-1144.
    • Williamson D, Brown K, Luddington R, Baglin C, Baglin I. FV Cambridge: A new mutation (Arg306Thr) associated with the resistance to activated protein C. Blood 1999;91:1140-1144.
  • 42
    • 0021329431 scopus 로고
    • Biosynthesis of coagulation factor V by a human hepatocellular carcinoma cell line
    • Wilson DB, Salem HH, Mruk JS, Majerus PW. Biosynthesis of coagulation factor V by a human hepatocellular carcinoma cell line. J Clin Invest 1984;73:654-661.
    • (1984) J Clin Invest , vol.73 , pp. 654-661
    • Wilson, D.B.1    Salem, H.H.2    Mruk, J.S.3    Majerus, P.W.4
  • 43
    • 0033973640 scopus 로고    scopus 로고
    • Activated protein C resistance and Factor V Leiden mutation can be associated with first- as well as second-med trimester recurrent pregnancy loss
    • Younis JS, Brenner B, Ohel G, Tal J, Lanir N, Ben-Ami M. Activated protein C resistance and Factor V Leiden mutation can be associated with first- as well as second-med trimester recurrent pregnancy loss. Am J Rep Immunol 2000;43:31-35.
    • (2000) Am J Rep Immunol , vol.43 , pp. 31-35
    • Younis, J.S.1    Brenner, B.2    Ohel, G.3    Tal, J.4    Lanir, N.5    Ben-Ami, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.