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Volumn 44, Issue 4, 2012, Pages 348-353

Homozygous protein C deficiency with late onset venous thrombosis: Identification and in vitro expression study of a novel Pro275Ser mutation

Author keywords

Mutation; Protein C deficiency; Venous thrombosis

Indexed keywords


EID: 84863705327     PISSN: 00313025     EISSN: 14653931     Source Type: Journal    
DOI: 10.1097/PAT.0b013e328353a218     Document Type: Article
Times cited : (9)

References (31)
  • 1
    • 0017283234 scopus 로고
    • A new vitamin K-dependent protein: Purification from bovine plasma and preliminary characterization
    • Stenflo J. A new vitamin K-dependent protein: Purification from bovine plasma and preliminary characterization. J Biol Chem 1976; 251: 355-63.
    • (1976) J Biol Chem , vol.251 , pp. 355-363
    • Stenflo, J.1
  • 3
    • 0020072618 scopus 로고
    • Mechanism of action of human activated protein C, a thrombin-dependent anticoagulant enzyme
    • Marlar TA, Kleiss AJ, Griffin J. Mechanism of action of human activated protein C, a thrombin-dependent anticoagulant enzyme. Blood 1982; 59: 1067-72. (Pubitemid 12125601)
    • (1982) Blood , vol.59 , Issue.5 , pp. 1067-1072
    • Marlar, R.A.1    Kleiss, A.J.2    Griffin, J.H.3
  • 7
    • 0021343348 scopus 로고
    • Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn
    • Seligsohn U, Berger A, Abend M, et al. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med 1984; 310: 559-62. (Pubitemid 14193095)
    • (1984) New England Journal of Medicine , vol.310 , Issue.9 , pp. 559-562
    • Seligsohn, U.1    Berger, A.2    Abend, M.3
  • 8
    • 0027364901 scopus 로고
    • A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26
    • Ido M, Ohiwa M, Hayashi T, Nishioka J, Hatada T, Watanabe Y. A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly- 381 and an amino acid substitution of Lys for Gla-26. Thromb Haemost 1993; 70: 636-41. (Pubitemid 23310570)
    • (1993) Thrombosis and Haemostasis , vol.70 , Issue.4 , pp. 636-641
    • Ido, M.1    Ohiwa, M.2    Hayashi, T.3    Nishioka, J.4    Hatada, T.5    Watanabe, Y.6    Wada, H.7    Shirakawa, S.8    Suzuki, K.9
  • 9
    • 0028832910 scopus 로고
    • The protein C anticoagulant system: Inherited defects as basis for venous thrombosis
    • Dahlbäck B. The protein C anticoagulant system: inherited defects as basis for venous thrombosis. Thromb Res 1995; 77: 1-43.
    • (1995) Thromb Res , vol.77 , pp. 1-43
    • Dahlbäck, B.1
  • 10
    • 0034017008 scopus 로고    scopus 로고
    • Protein C deficiency and venous thrombosis - The search for the second genetic defect
    • Bertina RM. Protein C deficiency and venous thrombosis: the search for the second genetic defect. Thromb Haemost 2000; 83: 360-1. (Pubitemid 30148345)
    • (2000) Thrombosis and Haemostasis , vol.83 , Issue.3 , pp. 360-361
    • Bertina, R.M.1
  • 11
    • 0027517303 scopus 로고
    • Splice site mutation in the human protein C gene associated with venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
    • Lind BW, van Solinge WW, Schwartz M, Thorsen S. Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Blood 1993; 82: 2423-32. (Pubitemid 23304266)
    • (1993) Blood , vol.82 , Issue.8 , pp. 2423-2432
    • Lind, B.1    Van Solinge, W.W.2    Schwartz, M.3    Thorsen, S.4
  • 12
    • 3242727694 scopus 로고    scopus 로고
    • Biochemical activity and gene analysis of inherited protein C and antithrombin deficiency in two Chinese pedigrees
    • Zhou RF, Fu QH, Wang WB, et al. Biochemical activity and gene analysis of inherited protein C and antithrombin deficiency in two Chinese pedigrees. Chin Med J (Engl) 2004; 117: 813-7.
    • (2004) Chin Med J (Engl) , vol.117 , pp. 813-817
    • Zhou, R.F.1    Fu, Q.H.2    Wang, W.B.3
  • 13
    • 70349772788 scopus 로고    scopus 로고
    • Molecular mechanisms of protein C deficiency caused by C64W and F139V mutations
    • Zhou RF, Cai XH, Xie S, et al. Molecular mechanisms of protein C deficiency caused by C64W and F139V mutations. Zhonghua Xue Ye Xue Za Zhi 2007; 28: 156-9.
    • (2007) Zhonghua Xue Ye Xue za Zhi , vol.28 , pp. 156-159
    • Zhou, R.F.1    Cai, X.H.2    Xie, S.3
  • 15
    • 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. 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 1996; 88: 877-80. (Pubitemid 26333309)
    • (1996) Blood , vol.88 , Issue.3 , pp. 877-880
    • Brenner, B.1    Zivelin, A.2    Lanir, N.3    Greengard, J.S.4    Griffin, J.H.5    Seligsohn, U.6
  • 16
    • 0035399149 scopus 로고    scopus 로고
    • Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis
    • DOI 10.1016/S0049-3848(01)00232-8, PII S0049384801002328
    • Knoll B, Hach-Wunderle V, Rieger S, Haring D, Mannhalter C. Combined occurrence of a heterozygous missense mutation in the protein C gene and allelic exclusion of one protein S allele leading to severe venous thrombosis. Thromb Res 2001; 103: 3-8. (Pubitemid 32588759)
    • (2001) Thrombosis Research , vol.103 , Issue.1 , pp. 3-8
    • Knoll, B.1    Hach-Wunderle, V.2    Rieger, S.3    Haring, D.4    Mannhalter, C.5
  • 17
    • 0026527932 scopus 로고
    • Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis
    • Conard J, Horellou MH, van Dreden P, et al. Homozygous protein C deficiency with late onset and recurrent coumarin-induced skin necrosis. Lancet 1992; 339: 743-4.
    • (1992) Lancet , vol.339 , pp. 743-744
    • Conard, J.1    Horellou, M.H.2    Van Dreden, P.3
  • 18
    • 0036799853 scopus 로고    scopus 로고
    • Protein C deficiency caused by homozygosity for a novel PROC D180G mutation - In vitro expression and structural analysis of the mutation
    • Lind B, Gedde-Dahl T, Tjønnfjord G, Villoutreix BO, Brosstad F. Protein C deficiency caused by homozygosity for anovel PROC D180G mutation - in vitro expression and structural analysis of the mutation. Thromb Haemost 2002; 88: 632-8. (Pubitemid 35174006)
    • (2002) Thrombosis and Haemostasis , vol.88 , Issue.4 , pp. 632-638
    • Lind, B.1    Gedde-Dahl, T.2    Tjonnfjord, G.3    Villoutreix, B.O.4    Brosstad, F.5
  • 19
    • 76649134818 scopus 로고    scopus 로고
    • A homozygous protein C deficiency (Lys 192 del) who developed venous thrombosis for the first time at adulthood
    • Iijima K, Nakamura A, Kurokawa H, Monobe S, Nakagawa M. A homozygous protein C deficiency (Lys 192 del) who developed venous thrombosis for the first time at adulthood. Thromb Res 2010; 125: 100-1.
    • (2010) Thromb Res , vol.125 , pp. 100-101
    • Iijima, K.1    Nakamura, A.2    Kurokawa, H.3    Monobe, S.4    Nakagawa, M.5
  • 20
    • 0028053480 scopus 로고
    • First de novo mutations in the protein C gene of two patients with type I deficiency: A missense mutation and a splice site deletion
    • Gandrille S, Jude B, Alhenc-Gelas M, Emmerich J, Aiach M. First de novo mutations in the protein C gene of two patients with type I deficiency: a missense mutation and a splice site deletion. Blood 1994; 84: 2566-70. (Pubitemid 24317388)
    • (1994) Blood , vol.84 , Issue.8 , pp. 2566-2570
    • Gandrille, S.1    Jude, B.2    Alhenc-Gelas, M.3    Emmerich, J.4    Aiach, M.5
  • 21
    • 0029043736 scopus 로고
    • Protein C deficiency: A database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH
    • Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1995; 73: 876-89.
    • (1995) Thromb Haemost , vol.73 , pp. 876-889
    • Reitsma, P.H.1    Bernardi, F.2    Doig, R.G.3
  • 23
    • 0027931444 scopus 로고
    • Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene
    • Doig RG, Begley CG, McGrath KM. Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene. Thromb Haemost 1994; 72: 203-8. (Pubitemid 24251280)
    • (1994) Thrombosis and Haemostasis , vol.72 , Issue.2 , pp. 203-208
    • Doig, R.G.1    Begley, C.G.2    McGrath, K.M.3
  • 24
    • 0028861492 scopus 로고
    • Six different point mutations in seven Danish families with symptomatic protein C deficiency
    • Lind B, Schwartz M, Thorsen S. Six different point mutations in seven Danish families with symptomatic protein C deficiency. Thromb Haemost 1995; 73: 186-93.
    • (1995) Thromb Haemost , vol.73 , pp. 186-193
    • Lind, B.1    Schwartz, M.2    Thorsen, S.3
  • 25
    • 0029947353 scopus 로고    scopus 로고
    • Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94
    • Katsumi A, Senda T, Yamashita Y, et al. Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94. Blood 1996; 87: 4164-75. (Pubitemid 26152261)
    • (1996) Blood , vol.87 , Issue.10 , pp. 4164-4175
    • Katsumi, A.1    Senda, T.2    Yamashita, Y.3    Yamazaki, T.4    Hamaguchi, M.5    Kojima, T.6    Kobayashi, S.7    Saito, H.8
  • 26
    • 0037630008 scopus 로고    scopus 로고
    • Defective sorting to secretory vesicles in trans-Golgi network is partly responsible for protein C deficiency: Molecular mechanisms of impaired secretion of abnormal protein C R169W, R352W, and G376D
    • DOI 10.1161/01.RES.0000069020.87627.7D
    • Naito M, Mimuro J, Endo H, et al. Defective sorting to secretory vesicles in trans-Golgi network is partly responsible for protein C deficiency: molecular mechanisms of impaired secretion of abnormal protein C R169W, R352W, and G376D. Circ Res 2003; 92: 865-72. (Pubitemid 36542527)
    • (2003) Circulation Research , vol.92 , Issue.8 , pp. 865-872
    • Naito, M.1    Mimuro, J.2    Endo, H.3    Madoiwa, S.4    Ogata, K.-I.5    Kikuchi, J.6    Sugo, T.7    Yasu, T.8    Kariya, Y.9    Hoshino, Y.10    Sakata, Y.11
  • 27
    • 0029680791 scopus 로고    scopus 로고
    • Cellular basis for protein C deficiency caused by a single amino acid substitution at Arg15 in the γ-carboxyglutamic acid domain
    • Tokunaga F, Tsukamoto T, Koide T. Cellular basis for protein C deficiency caused by a single amino acid substitution at Arg15 in the gammacarboxyglutamic acid domain. J Biochem 1996; 120: 360-8. (Pubitemid 26335930)
    • (1996) Journal of Biochemistry , vol.120 , Issue.2 , pp. 360-368
    • Tokunaga, F.1    Tsukamoto, T.2    Koide, T.3
  • 28
    • 77956495529 scopus 로고    scopus 로고
    • Functional characterization of the protein C A267T mutation: Evidence for impaired secretion due to defective intracellular transport
    • Tjeldhorn L, Iversen N, Sandvig K, Bergan J, Sandset PM, Skretting G. Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport. BMC Cell Biol 2010; 11: 67.
    • (2010) BMC Cell Biol , vol.11 , pp. 67
    • Tjeldhorn, L.1    Iversen, N.2    Sandvig, K.3    Bergan, J.4    Sandset, P.M.5    Skretting, G.6
  • 29
  • 31
    • 70349855203 scopus 로고    scopus 로고
    • Glycoprotein folding, quality control and ER-associated degradation
    • Lederkremer GZ. Glycoprotein folding, quality control and ER-associated degradation. Curr Opin Struct Biol 2009; 19: 515-23.
    • (2009) Curr Opin Struct Biol , vol.19 , pp. 515-523
    • Lederkremer, G.Z.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.