메뉴 건너뛰기




Volumn 63, Issue 2, 1998, Pages 569-576

An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN C;

EID: 0032231887     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301947     Document Type: Article
Times cited : (38)

References (53)
  • 1
    • 0025891903 scopus 로고
    • A population-based perspective of the hospital incidence and case-fatality rates of deep vein thrombosis and pulmonary embolism: The Worcester DVT study
    • Anderson FA Jr, Wheeler HB, Goldberg RJ, Hosmer DW, Patwardhan NA, Jovanovic B, Forcier A, et al (1991) A population-based perspective of the hospital incidence and case-fatality rates of deep vein thrombosis and pulmonary embolism: the Worcester DVT study. Arch Intern Med 151: 933-938
    • (1991) Arch Intern Med , vol.151 , pp. 933-938
    • Anderson Jr., F.A.1    Wheeler, H.B.2    Goldberg, R.J.3    Hosmer, D.W.4    Patwardhan, N.A.5    Jovanovic, B.6    Forcier, A.7
  • 2
    • 0029792264 scopus 로고    scopus 로고
    • Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V Leiden
    • Beauchamp NJ, Daly ME, Cooper PC, Makris M, Preston FE, Peake IR (1996) Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V Leiden. Blood 88:1700-1707
    • (1996) Blood , vol.88 , pp. 1700-1707
    • Beauchamp, N.J.1    Daly, M.E.2    Cooper, P.C.3    Makris, M.4    Preston, F.E.5    Peake, I.R.6
  • 3
    • 0022432305 scopus 로고
    • The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs
    • Beckmann RJ, Schmidt RJ, Santerre RF, Plutzky J, Crabtree GR, Long GL (1985) The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs. Nucleic Acids Res 13:5233-5247
    • (1985) Nucleic Acids Res , vol.13 , pp. 5233-5247
    • Beckmann, R.J.1    Schmidt, R.J.2    Santerre, R.F.3    Plutzky, J.4    Crabtree, G.R.5    Long, G.L.6
  • 4
    • 0028234522 scopus 로고
    • Increased thrombosis incidence in a family with an inherited protein S deficiency and a high oxygen affinity hemoglobin variant
    • Berruyer M, Francina A, Ffrench P, Negrier C, Boneu B, Dechavanne M (1994) Increased thrombosis incidence in a family with an inherited protein S deficiency and a high oxygen affinity hemoglobin variant. Am J Hematol 46: 214-217
    • (1994) Am J Hematol , vol.46 , pp. 214-217
    • Berruyer, M.1    Francina, A.2    Ffrench, P.3    Negrier, C.4    Boneu, B.5    Dechavanne, M.6
  • 5
    • 0024507770 scopus 로고
    • The clinical spectrum of heterozygous protein C deficiency in a large New England kindred
    • Bovill EG, Bauer KA, Dickerman JD, Callas P, West B (1989) The clinical spectrum of heterozygous protein C deficiency in a large New England kindred. Blood 73:712-717
    • (1989) Blood , vol.73 , pp. 712-717
    • Bovill, E.G.1    Bauer, K.A.2    Dickerman, J.D.3    Callas, P.4    West, B.5
  • 6
    • 0018346970 scopus 로고
    • Multifactorial genetic models for quantitative traits in humans
    • Boyle CR, Elston RC (1979) Multifactorial genetic models for quantitative traits in humans. Biometrics 35:55-68
    • (1979) Biometrics , vol.35 , pp. 55-68
    • Boyle, C.R.1    Elston, R.C.2
  • 7
    • 0021086761 scopus 로고
    • Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant
    • Branson HE, Katz J, Marble R, Griffin JH (1983) Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant. Lancet 2: 1165-1168
    • (1983) Lancet , vol.2 , pp. 1165-1168
    • Branson, H.E.1    Katz, J.2    Marble, R.3    Griffin, J.H.4
  • 8
    • 0029743426 scopus 로고    scopus 로고
    • Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis
    • Brenner B, Zivelin A, Lanir N, Greengard JS, Griffin JH, Seligsohn U (1996) Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis. Blood 88:877-880
    • (1996) Blood , vol.88 , pp. 877-880
    • Brenner, B.1    Zivelin, A.2    Lanir, N.3    Greengard, J.S.4    Griffin, J.H.5    Seligsohn, U.6
  • 9
    • 0021101168 scopus 로고
    • Congenital protein C deficiency and venous thromboembolism: A study of three Dutch families
    • Broekmans AW, Veltkamp JJ, Bertina RM (1983) Congenital protein C deficiency and venous thromboembolism: a study of three Dutch families. N Engl J Med 309:340-344
    • (1983) N Engl J Med , vol.309 , pp. 340-344
    • Broekmans, A.W.1    Veltkamp, J.J.2    Bertina, R.M.3
  • 10
    • 0028048799 scopus 로고
    • Inherited resistance to activated protein C, a major cause of venous thrombosis, is due to a mutation in the factor V gene
    • Dahlbäck B (1994) Inherited resistance to activated protein C, a major cause of venous thrombosis, is due to a mutation in the factor V gene. Haemostasis 24:139-151
    • (1994) Haemostasis , vol.24 , pp. 139-151
    • Dahlbäck, B.1
  • 11
    • 0027446268 scopus 로고
    • Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C
    • Dahlbäck B, Carlsson M, Svensson PJ (1993) Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 90:1004-1008
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 1004-1008
    • Dahlbäck, B.1    Carlsson, M.2    Svensson, P.J.3
  • 12
    • 0015183542 scopus 로고
    • A general model for the genetic analysis of pedigree data
    • Elston RC, Stewart J (1971) A general model for the genetic analysis of pedigree data. Hum Hered 21:523-542
    • (1971) Hum Hered , vol.21 , pp. 523-542
    • Elston, R.C.1    Stewart, J.2
  • 13
    • 0027161205 scopus 로고
    • Molecular events that control the protein C anticoagulant pathway
    • Esmon CT (1993) Molecular events that control the protein C anticoagulant pathway. Thromb Haemost 70:29-35
    • (1993) Thromb Haemost , vol.70 , pp. 29-35
    • Esmon, C.T.1
  • 15
    • 0031012256 scopus 로고    scopus 로고
    • Inherited thrombotic disorders: An update
    • Florell SR, Rodgers GM (1997) Inherited thrombotic disorders: an update. Am J Hematol 54:53-60
    • (1997) Am J Hematol , vol.54 , pp. 53-60
    • Florell, S.R.1    Rodgers, G.M.2
  • 16
  • 17
    • 0029050714 scopus 로고
    • Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients
    • Gandrille S, Greengard JS, Alhenc-Gelas M, Juhan-Vague I, Abgrall JF, Jude B, Griffin JH, et al (1995) Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. Blood 86:219-224
    • (1995) Blood , vol.86 , pp. 219-224
    • Gandrille, S.1    Greengard, J.S.2    Alhenc-Gelas, M.3    Juhan-Vague, I.4    Abgrall, J.F.5    Jude, B.6    Griffin, J.H.7
  • 18
    • 0023920139 scopus 로고
    • Association of inherited dysfibrinogenaemia and protein C deficiency in two unrelated families
    • Gandrille S, Priollet P, Capron L, Roncato M, Fiessinger JN, Aiach M (1988) Association of inherited dysfibrinogenaemia and protein C deficiency in two unrelated families. Br J Haematol 68:329-337
    • (1988) Br J Haematol , vol.68 , pp. 329-337
    • Gandrille, S.1    Priollet, P.2    Capron, L.3    Roncato, M.4    Fiessinger, J.N.5    Aiach, M.6
  • 19
    • 0008424882 scopus 로고
    • NPSOL: A Fortran package for nonlinear programming
    • Department of Operations Research, Stanford University, Stanford
    • Gill PE, Murray W, Saunders MA, Wright MH (1986) NPSOL: a Fortran package for nonlinear programming. Tech rep SOL 86-2, Department of Operations Research, Stanford University, Stanford
    • (1986) Tech Rep SOL 86-2
    • Gill, P.E.1    Murray, W.2    Saunders, M.A.3    Wright, M.H.4
  • 20
    • 0023818347 scopus 로고
    • The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis
    • Gladson CL, Scharrer I, Hach V, Beck KH, Griffin JH (1988) The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis. Thromb Haemost 59:18-22
    • (1988) Thromb Haemost , vol.59 , pp. 18-22
    • Gladson, C.L.1    Scharrer, I.2    Hach, V.3    Beck, K.H.4    Griffin, J.H.5
  • 22
    • 0027248119 scopus 로고
    • A variance components/major locus likelihood approximation for quantitative, polychotomous, and multivariate data
    • Hasstedt SJ (1993) A variance components/major locus likelihood approximation for quantitative, polychotomous, and multivariate data. Genet Epidemiol 10:145-158
    • (1993) Genet Epidemiol , vol.10 , pp. 145-158
    • Hasstedt, S.J.1
  • 23
    • 0003625911 scopus 로고
    • Department of Human Genetics, University of Utah, Salt Lake City
    • _ (1994) PAP: Pedigree Analysis Package, revision 4. Department of Human Genetics, University of Utah, Salt Lake City
    • (1994) PAP: Pedigree Analysis Package, Revision 4
  • 24
    • 0021713233 scopus 로고
    • Congenital protein C deficiency and thrombotic disease in nine French families
    • Horellou MH, Conard J, Bertina RM, Samama M (1984) Congenital protein C deficiency and thrombotic disease in nine French families. BMJ 289:1285-1287
    • (1984) BMJ , vol.289 , pp. 1285-1287
    • Horellou, M.H.1    Conard, J.2    Bertina, R.M.3    Samama, M.4
  • 25
    • 0023922605 scopus 로고
    • Assignment of the human protein C gene (PROC) to chromosome region 2q14→2q21 by in situ hybridization
    • Kato A, Miura O, Sumi Y, Aoki N (1988) Assignment of the human protein C gene (PROC) to chromosome region 2q14→2q21 by in situ hybridization. Cytogenet Cell Genet 47:46-47
    • (1988) Cytogenet Cell Genet , vol.47 , pp. 46-47
    • Kato, A.1    Miura, O.2    Sumi, Y.3    Aoki, N.4
  • 26
    • 0028000665 scopus 로고
    • Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families
    • Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM (1994) Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 84: 1031-1035
    • (1994) Blood , vol.84 , pp. 1031-1035
    • Koeleman, B.P.C.1    Reitsma, P.H.2    Allaart, C.F.3    Bertina, R.M.4
  • 28
    • 0029033740 scopus 로고
    • Protein C deficiency in a controlled series of unselected outpatients: An infrequent but clear risk factor for venous thrombosis (Leiden thrombophilia study)
    • Koster T, Rosendaal FR, Briët E, van der Meer FJM, Colly LP, Trienekens PH, Poort SR, et al (1995) Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden thrombophilia study). Blood 85:2756-2761
    • (1995) Blood , vol.85 , pp. 2756-2761
    • Koster, T.1    Rosendaal, F.R.2    Briët, E.3    Van Der Meer, F.J.M.4    Colly, L.P.5    Trienekens, P.H.6    Poort, S.R.7
  • 31
    • 0003154996 scopus 로고
    • Molecular biology, biochemistry and lifespan of plasma coagulation factors
    • Beutler E, Lichtman MA, Coller BS, Kipps TJ (eds) McGraw Hill, New York
    • Mann KG, Gaffney D, Bovill EG (1995) Molecular biology, biochemistry and lifespan of plasma coagulation factors. In: Beutler E, Lichtman MA, Coller BS, Kipps TJ (eds) Williams hematology. McGraw Hill, New York, pp 1206-1226
    • (1995) Williams Hematology , pp. 1206-1226
    • Mann, K.G.1    Gaffney, D.2    Bovill, E.G.3
  • 32
    • 0021930913 scopus 로고
    • Neonatal purpura fulminans: A genetic disorder related to the absence of protein C in blood
    • Marciniak E, Wilson HD, Marlar RA (1985) Neonatal purpura fulminans: a genetic disorder related to the absence of protein C in blood. Blood 65:15-20
    • (1985) Blood , vol.65 , pp. 15-20
    • Marciniak, E.1    Wilson, H.D.2    Marlar, R.A.3
  • 33
    • 0024399901 scopus 로고
    • Report on the diagnosis and treatment of homozygous protein C deficiency: Report of the Working Party on Homozygous Protein C Deficiency of the ICTH-Subcommittee on Protein C and Protein S
    • Marlar RA, Montgomery RR, Broekmans AW (1989) Report on the diagnosis and treatment of homozygous protein C deficiency: report of the Working Party on Homozygous Protein C Deficiency of the ICTH-Subcommittee on Protein C and Protein S. Thromb Haemost 61:529-531
    • (1989) Thromb Haemost , vol.61 , pp. 529-531
    • Marlar, R.A.1    Montgomery, R.R.2    Broekmans, A.W.3
  • 34
    • 0029806166 scopus 로고    scopus 로고
    • Low thrombosis rate seen in blood donors and their relatives with inherited deficiencies of antithrombin and protein C: Correlation with type of defect, family history, and absence of the factor V Leiden mutation
    • McColl M, Tait RC, Walker ID, Perry DJ, McCall F, Conkie JA (1996) Low thrombosis rate seen in blood donors and their relatives with inherited deficiencies of antithrombin and protein C: correlation with type of defect, family history, and absence of the factor V Leiden mutation. Blood Coagul Fibrinolysis 7:689-694
    • (1996) Blood Coagul Fibrinolysis , vol.7 , pp. 689-694
    • McColl, M.1    Tait, R.C.2    Walker, I.D.3    Perry, D.J.4    McCall, F.5    Conkie, J.A.6
  • 36
    • 0023233223 scopus 로고
    • Absence of thrombosis in subjects with heterozygous protein C deficiency
    • Miletich J, Sherman L, Broze G Jr (1987) Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 317:991-996
    • (1987) N Engl J Med , vol.317 , pp. 991-996
    • Miletich, J.1    Sherman, L.2    Broze Jr., G.3
  • 37
    • 0016192958 scopus 로고
    • Analysis of family resemblance. III. Complex segregation of quantitative traits
    • Morton NE, MacLean CJ (1974) Analysis of family resemblance. III. Complex segregation of quantitative traits. Am J Hum Genet 26:489-503
    • (1974) Am J Hum Genet , vol.26 , pp. 489-503
    • Morton, N.E.1    MacLean, C.J.2
  • 38
    • 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 (1996) 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 16:742-748
    • (1996) Arterioscler Thromb Vasc Biol , vol.16 , pp. 742-748
    • Pabinger, I.1    Schneider, B.2
  • 40
    • 0029850530 scopus 로고    scopus 로고
    • A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
    • Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (1996) A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 88:3698-3703
    • (1996) Blood , vol.88 , pp. 3698-3703
    • Poort, S.R.1    Rosendaal, F.R.2    Reitsma, P.H.3    Bertina, R.M.4
  • 41
    • 0010548624 scopus 로고
    • Introduction to hemostasis and the vitamin K-dependent coagulation factors
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw Hill, New York
    • Reiner AP, Davie EW (1995) Introduction to hemostasis and the vitamin K-dependent coagulation factors. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. Vol 3. McGraw Hill, New York, pp 3181-3221
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , vol.3 , pp. 3181-3221
    • Reiner, A.P.1    Davie, E.W.2
  • 42
    • 0029867574 scopus 로고    scopus 로고
    • Protein C deficiency: Summary of the 1995 database update
    • Reitsma PH (1996) Protein C deficiency: summary of the 1995 database update. Nucleic Acids Res 24:157-159
    • (1996) Nucleic Acids Res , vol.24 , pp. 157-159
    • Reitsma, P.H.1
  • 43
    • 0027428494 scopus 로고
    • Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: Application to nonobese diabetic (NOD) mouse and human insulin-dependent diabetes mellitus (IDDM)
    • Risch N, Ghosh S, Todd JA (1993) Statistical evaluation of multiple-locus linkage data in experimental species and its relevance to human studies: application to nonobese diabetic (NOD) mouse and human insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 53:702-714
    • (1993) Am J Hum Genet , vol.53 , pp. 702-714
    • Risch, N.1    Ghosh, S.2    Todd, J.A.3
  • 45
    • 0030746618 scopus 로고    scopus 로고
    • Thrombophilia as a multigenic disorder
    • Seligsohn U, Zivelin A (1997) Thrombophilia as a multigenic disorder. Thromb Haemost 78:297-301
    • (1997) Thromb Haemost , vol.78 , pp. 297-301
    • Seligsohn, U.1    Zivelin, A.2
  • 46
    • 10544236115 scopus 로고    scopus 로고
    • Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis: Protein S Study Group
    • Simmonds RE, Ireland H, Kunz G, Lane DA (1996) Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis: Protein S Study Group. Blood 88:4195-4204
    • (1996) Blood , vol.88 , pp. 4195-4204
    • Simmonds, R.E.1    Ireland, H.2    Kunz, G.3    Lane, D.A.4
  • 48
    • 0028207944 scopus 로고
    • Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis
    • Tomczak JA, Ando RA, Sobel HG, Bovill EG, Long GL (1994) Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis. Thromb Res 74: 243-254
    • (1994) Thromb Res , vol.74 , pp. 243-254
    • Tomczak, J.A.1    Ando, R.A.2    Sobel, H.G.3    Bovill, E.G.4    Long, G.L.5
  • 51
    • 0029016883 scopus 로고
    • Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S
    • Zöller B, Berntsdotter A, García de Frutos P, Dahlbäck B (1995a) Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 85:3518-3523
    • (1995) Blood , vol.85 , pp. 3518-3523
    • Zöller, B.1    Berntsdotter, A.2    De García Frutos, P.3    Dahlbäck, B.4
  • 52
    • 0029022665 scopus 로고    scopus 로고
    • Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease
    • Zöller B, He X, Dahlbäck B (1996b) Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease. Thromb Haemost 73:743-745
    • (1996) Thromb Haemost , vol.73 , pp. 743-745
    • Zöller, B.1    He, X.2    Dahlbäck, B.3
  • 53
    • 0029845099 scopus 로고    scopus 로고
    • Plasminogen deficiency: An additional risk factor for thrombosis in a family with factor V R506Q mutation?
    • Züger M, Biasiutti FD, Furlan M, Mannhalter C, Lämmle B (1996) Plasminogen deficiency: an additional risk factor for thrombosis in a family with factor V R506Q mutation? Thromb Haemost 76:475-476
    • (1996) Thromb Haemost , vol.76 , pp. 475-476
    • Züger, M.1    Biasiutti, F.D.2    Furlan, M.3    Mannhalter, C.4    Lämmle, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.