메뉴 건너뛰기




Volumn 427, Issue 6974, 2004, Pages 537-541

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD; COAGULATION; GENES; VITAMINS;

EID: 10744228888     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature02214     Document Type: Article
Times cited : (1047)

References (23)
  • 1
    • 0023066672 scopus 로고
    • The biochemical basis of warfarin therapy
    • Suttie, J. W. The biochemical basis of warfarin therapy. Adv. Exp. Med. Biol. 214, 3-16 (1987).
    • (1987) Adv. Exp. Med. Biol. , vol.214 , pp. 3-16
    • Suttie, J.W.1
  • 2
    • 0016259925 scopus 로고
    • The mode of action of vitamin K. Identification of γ -carboxyglutamic acid as a component of prothrombin
    • Nelsestuen, G. L., Zytkovicz, T. H. & Howard, J. B. The mode of action of vitamin K. Identification of γ-carboxyglutamic acid as a component of prothrombin. J. Biol. Chem. 249, 6347-6350 (1974).
    • (1974) J. Biol. Chem. , vol.249 , pp. 6347-6350
    • Nelsestuen, G.L.1    Zytkovicz, T.H.2    Howard, J.B.3
  • 3
    • 0000376008 scopus 로고
    • Vitamin K dependent modifications of glutamic acid residues in prothrombin
    • Stenflo, J., Fernlund, P., Egan, W. & Roepstorff, P. Vitamin K dependent modifications of glutamic acid residues in prothrombin. Proc. Natl Acad. Sci. USA 71, 2730-2733 (1974).
    • (1974) Proc. Natl. Acad. Sci. USA , vol.71 , pp. 2730-2733
    • Stenflo, J.1    Fernlund, P.2    Egan, W.3    Roepstorff, P.4
  • 4
    • 0021040562 scopus 로고
    • Warfarin inhibition of vitamin K 2,3-epoxide reductase in rat liver microsomes
    • Fasco, M. J., Principe, L. M., Walsh, W. A. & Friedman, P. A. Warfarin inhibition of vitamin K 2,3-epoxide reductase in rat liver microsomes. Biochemistry 22, 5655-5660 (1983).
    • (1983) Biochemistry , vol.22 , pp. 5655-5660
    • Fasco, M.J.1    Principe, L.M.2    Walsh, W.A.3    Friedman, P.A.4
  • 5
    • 0030715637 scopus 로고    scopus 로고
    • Assembly of the warfarin-sensitive vitamin K 2,3-epoxide reductase enzyme complex in the endoplasmic reticulum membrane
    • Cain, D., Hutson, S. M. & Wallin, R. Assembly of the warfarin-sensitive vitamin K 2,3-epoxide reductase enzyme complex in the endoplasmic reticulum membrane. J. Biol. Chem. 272, 29068-29075 (1997).
    • (1997) J. Biol. Chem. , vol.272 , pp. 29068-29075
    • Cain, D.1    Hutson, S.M.2    Wallin, R.3
  • 6
    • 0035028584 scopus 로고    scopus 로고
    • 1 2,3-epoxide reductases system from rat liver
    • 1 2,3-epoxide reductases system from rat liver. J. Pharm. Pharmacol. 53, 481-486 (2001).
    • (2001) J. Pharm. Pharmacol. , vol.53 , pp. 481-486
    • Begent, L.A.1
  • 7
    • 0021242408 scopus 로고
    • Metabolism of vitamin K and vitamin K 2,3-epoxide via interaction with a common disulfide
    • Lee, J. J. & Fasco, M. J. Metabolism of vitamin K and vitamin K 2,3-epoxide via interaction with a common disulfide. Biochemistry 23, 2246-2252 (1984).
    • (1984) Biochemistry , vol.23 , pp. 2246-2252
    • Lee, J.J.1    Fasco, M.J.2
  • 8
    • 0035515246 scopus 로고    scopus 로고
    • A molecular mechanism for genetic warfarin resistance in the rat
    • Wallin, R., Hutson, S. M., Cain, D., Sweatt, A. & Sane, D. C. A molecular mechanism for genetic warfarin resistance in the rat. FASEB J. 15, 2542-2544 (2001).
    • (2001) FASEB J. , vol.15 , pp. 2542-2544
    • Wallin, R.1    Hutson, S.M.2    Cain, D.3    Sweatt, A.4    Sane, D.C.5
  • 9
    • 0036839309 scopus 로고    scopus 로고
    • Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16
    • Fregin, A. et al. Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. Blood 100, 3229-3232 (2002).
    • (2002) Blood , vol.100 , pp. 3229-3232
    • Fregin, A.1
  • 10
    • 0032816336 scopus 로고    scopus 로고
    • Genomic assignment of the warfarin resistance locus, Rw, in the rat
    • Kohn, M. H. & Pelz, H. J. Genomic assignment of the warfarin resistance locus, Rw, in the rat. Mamm. Genome 10, 696-698 (1999).
    • (1999) Mamm. Genome , vol.10 , pp. 696-698
    • Kohn, M.H.1    Pelz, H.J.2
  • 11
    • 0014210995 scopus 로고
    • Heritable resistance to warfarin in rats
    • Greaves, J. H. & Ayres, P. Heritable resistance to warfarin in rats. Nature 215, 877-878 (1967).
    • (1967) Nature , vol.215 , pp. 877-878
    • Greaves, J.H.1    Ayres, P.2
  • 12
    • 0017258282 scopus 로고
    • A major gene controlling warfarin-resistance in the house mouse
    • Wallace, M. E. & MacSwiney, F. J. A major gene controlling warfarin-resistance in the house mouse. J. Hyg. (Lond.) 76, 173-181 (1976).
    • (1976) J. Hyg. (Lond.) , vol.76 , pp. 173-181
    • Wallace, M.E.1    MacSwiney, F.J.2
  • 13
    • 0018320499 scopus 로고
    • Warfarin-resistance genotype determination in the Norway rat. Rattus norvegicus
    • Martin, A. D., Steed, L. C., Redfern, R., Gill, J. E. & Huson, L. W. Warfarin-resistance genotype determination in the Norway rat. Rattus norvegicus. Lab. Anim. 13, 209-214 (1979).
    • (1979) Lab. Anim. , vol.13 , pp. 209-214
    • Martin, A.D.1    Steed, L.C.2    Redfern, R.3    Gill, J.E.4    Huson, L.W.5
  • 14
    • 0042517592 scopus 로고    scopus 로고
    • (eds Pelz, H. J., Cowan, D. P. & Feare, C. J.) (Filander, Fürth)
    • Thijssen, H. H. & Pelz, H. J. in Advances in Vertebrate Pest Management (eds Pelz, H. J., Cowan, D. P. & Feare, C. J.) 181-192 (Filander, Fürth, 2001).
    • (2001) Advances in Vertebrate Pest Management , pp. 181-192
    • Thijssen, H.H.1    Pelz, H.J.2
  • 15
    • 0025184422 scopus 로고
    • Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum
    • Jackson, M. R., Nilsson, T. & Peterson, P. A. Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum. EMBO J. 9, 3153-3162 (1990).
    • (1990) EMBO J. , vol.9 , pp. 3153-3162
    • Jackson, M.R.1    Nilsson, T.2    Peterson, P.A.3
  • 16
    • 0034674448 scopus 로고    scopus 로고
    • Identification of a Drosophila vitamin K-dependent γ-glutamyl carboxylase
    • Li, T., Yang, C. T., Jin, D. & Stafford, D. W. Identification of a Drosophila vitamin K-dependent γ-glutamyl carboxylase. J. Biol. Chem. 275, 18291-18296 (2000).
    • (2000) J. Biol. Chem. , vol.275 , pp. 18291-18296
    • Li, T.1    Yang, C.T.2    Jin, D.3    Stafford, D.W.4
  • 17
    • 0037022383 scopus 로고    scopus 로고
    • Gamma-glutamyl carboxylation: An extracellular posttranslational modification that antedates the divergence of molluscs, arthropods, and chordates
    • Bandyopadhyay, P. K. et al. Gamma-glutamyl carboxylation: an extracellular posttranslational modification that antedates the divergence of molluscs, arthropods, and chordates. Proc. Natl Acad. Sci. USA 99, 1264-1269 (2002).
    • (2002) Proc. Natl. Acad. Sci. USA , vol.99 , pp. 1264-1269
    • Bandyopadhyay, P.K.1
  • 18
    • 0032531137 scopus 로고    scopus 로고
    • Cloning of rat vitamin K-dependent γ-glutamyl carboxylase and developmentally regulated gene expression in postimplantation embryos
    • Romero, E. E., Velazquez-Estades, L. J., Deo, R., Schapiro, B. & Roth, D. A. Cloning of rat vitamin K-dependent γ-glutamyl carboxylase and developmentally regulated gene expression in postimplantation embryos. Exp. Cell Res. 243, 334-346 (1998).
    • (1998) Exp. Cell Res. , vol.243 , pp. 334-346
    • Romero, E.E.1    Velazquez-Estades, L.J.2    Deo, R.3    Schapiro, B.4    Roth, D.A.5
  • 19
    • 0022405539 scopus 로고
    • Vitamin K-dependent carboxylation and vitamin K metabolism in liver. Effects of warfarin
    • Wallin, R. & Martin, L. F. Vitamin K-dependent carboxylation and vitamin K metabolism in liver. Effects of warfarin. J. Clin. Invest. 76, 1879-1884 (1985).
    • (1985) J. Clin. Invest. , vol.76 , pp. 1879-1884
    • Wallin, R.1    Martin, L.F.2
  • 20
    • 0036281742 scopus 로고    scopus 로고
    • The vitamin K-dependent carboxylase
    • Presnell, S. R. & Stafford, D. W. The vitamin K-dependent carboxylase. Thromb. Haemost. 87, 937-946 (2002).
    • (2002) Thromb. Haemost. , vol.87 , pp. 937-946
    • Presnell, S.R.1    Stafford, D.W.2
  • 21
    • 0034530536 scopus 로고    scopus 로고
    • Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase complex
    • Oldenburg, J. et al. Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase complex. Thromb. Haemost. 84, 937-941 (2000).
    • (2000) Thromb. Haemost. , vol.84 , pp. 937-941
    • Oldenburg, J.1
  • 22
    • 0020640375 scopus 로고
    • Formation of hydroxyvitamin K by vitamin K epoxide reductase of warfarin-resistant rats
    • Fasco, M. J., Preusch, P. C., Hildebrandt, E. & Suttie, J. W. Formation of hydroxyvitamin K by vitamin K epoxide reductase of warfarin-resistant rats. J. Biol. Chem. 258, 4372-4380 (1983).
    • (1983) J. Biol. Chem. , vol.258 , pp. 4372-4380
    • Fasco, M.J.1    Preusch, P.C.2    Hildebrandt, E.3    Suttie, J.W.4
  • 23
    • 0037322485 scopus 로고    scopus 로고
    • An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
    • Hörtnagel, K., Prokisch, H. & Meitinger, T. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. Hum. Mol. Genet. 12, 321-327 (2003).
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 321-327
    • Hörtnagel, K.1    Prokisch, H.2    Meitinger, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.