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Volumn 75, Issue 6, 1996, Pages 883-886

First case of sporadic protein S deficiency due to a novel candidate mutation, Ala 484 → Pro, in the protein S active gene (PROS1)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; BETA GLOBIN; PROLINE; PROTEIN C; PROTEIN S;

EID: 0029906758     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1650388     Document Type: Article
Times cited : (9)

References (51)
  • 1
    • 0025003450 scopus 로고
    • Intronexon organization of the active human protein S gene PSα and its pseudogene PSβ: Duplication and silencing during primate evolution
    • Ploos van Amstel HK. Reitsma PH, van der Logt PE, Bertina RM. Intronexon organization of the active human protein S gene PSα and its pseudogene PSβ: duplication and silencing during primate evolution. Biochemistry 1990; 29:7853-61.
    • (1990) Biochemistry , vol.29 , pp. 7853-7861
    • Ploos van Amstel, H.K.1    Reitsma, P.H.2    Van der Logt, P.E.3    Bertina, R.M.4
  • 3
    • 0025182946 scopus 로고
    • Molecular analysis of the gene for vitamin K dependent prolein S and its pseudogene. Cloning and partial gene organization
    • Edenbrandt CM. Lundwall A, Wydro R. Stenflo J. Molecular analysis of the gene for vitamin K dependent prolein S and its pseudogene. Cloning and partial gene organization. Biochemistry 1990; 29: 7861-8.
    • (1990) Biochemistry , vol.29 , pp. 7861-7868
    • Edenbrandt, C.M.1    Lundwall, A.2    Wydro, R.3    Stenflo, J.4
  • 5
    • 0040426308 scopus 로고
    • High molecular weight complex in human plasma between vitamin K-dependent protein S and complement G4b-binding protein
    • Dahlbäck B. Stenflo J. High molecular weight complex in human plasma between vitamin K-dependent protein S and complement G4b-binding protein. Proc Natl Acad Sci USA 1981; 78: 2512-6.
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 2512-2516
    • Dahlbäck, B.1    Stenflo, J.2
  • 6
    • 0020530378 scopus 로고
    • Purification of human C4b-binding protein and formation of its complex with vitamin K-dependent protein S
    • Dahlbäck B. Purification of human C4b-binding protein and formation of its complex with vitamin K-dependent protein S. Biochem J 1983; 209: 847-56.
    • (1983) Biochem J , vol.209 , pp. 847-856
    • Dahlbäck, B.1
  • 7
    • 0022929854 scopus 로고
    • Inhibition of the protein Ca cofactor function of human and bovine protein S by C4b-binding protein
    • Dahlbäck B. Inhibition of the protein Ca cofactor function of human and bovine protein S by C4b-binding protein. J Biol Chem 1986; 261: 12022-7.
    • (1986) J Biol Chem , vol.261 , pp. 12022-12027
    • Dahlbäck, B.1
  • 8
    • 0019849380 scopus 로고
    • Regulation of activated protein C by protein S. the role of phospholipid in factor Va inactivalion
    • Walker FJ. Regulation of activated protein C by protein S. The role of phospholipid in factor Va inactivalion. J Biol Chem 1981: 256; 11128-31.
    • (1981) J Biol Chem , vol.256 , pp. 11128-11131
    • Walker, F.J.1
  • 9
    • 0023744090 scopus 로고
    • Inactivation of human factor VIII by activated protein C. Cofactor activity of protein S and protective effect of von Willebrand factor
    • Koedam JA, Meijers JCM. Sixma JJ, Bouma BN. Inactivation of human factor VIII by activated protein C. Cofactor activity of protein S and protective effect of von Willebrand factor, J Clin Invest 1988; 82: 1236-43.
    • (1988) J Clin Invest , vol.82 , pp. 1236-1243
    • Koedam, J.A.1    Meijers, J.C.M.2    Sixma, J.J.3    Bouma, B.N.4
  • 10
    • 0020628416 scopus 로고
    • Inactivation of human coagulation factor V by activated protein C
    • Suzuki K, Stenflo J. Dahlbäck B, Teodorsson B. Inactivation of human coagulation factor V by activated protein C. J Biol Chem 1983; 258: 1914-20.
    • (1983) J Biol Chem , vol.258 , pp. 1914-1920
    • Suzuki, K.1    Stenflo, J.2    Dahlbäck, B.3    Teodorsson, B.4
  • 11
    • 0021720421 scopus 로고
    • Recurrent venous thromboembolism in patients with a partial deficiency of protein S
    • Comp P, Esmon C. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N EngI J Med 1984; 311: 1525-8.
    • (1984) N EngI J Med , vol.311 , pp. 1525-1528
    • Comp, P.1    Esmon, C.2
  • 12
    • 0021740029 scopus 로고
    • Familial protein S deficiency is associated with recurrent thrombosis
    • Schwanz H, Fischer M, Hopmeier P. Batard MA, Griffin JH. Familial protein S deficiency is associated with recurrent thrombosis. Blood 1984; 64: 1297-300.
    • (1984) Blood , vol.64 , pp. 1297-1300
    • Schwanz, H.1    Fischer, M.2    Hopmeier, P.3    Batard, M.A.4    Griffin, J.H.5
  • 16
    • 0026029146 scopus 로고
    • A 5.3-kb deletion including exon XIII of the protein S a gene occurs in two protein S-deficient families
    • Schmidel DK, Nelson RM, Broxson EH,Jr. Comp PC, Marlar RA, Long GL. A 5.3-kb deletion including exon XIII of the protein S a gene occurs in two protein S-deficient families. Blood 1991; 77: 551-9.
    • (1991) Blood , vol.77 , pp. 551-559
    • Schmidel, D.K.1    Nelson, R.M.2    Broxson Jr., E.H.3    Comp, P.C.4    Marlar, R.A.5    Long, G.L.6
  • 17
    • 0028175686 scopus 로고
    • Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene
    • Gomez E, Ledford MR, Pegelow CH, Reitsma PH, Bertina RM. Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene. Thromb Haemost 1994; 71: 723-6.
    • (1994) Thromb Haemost , vol.71 , pp. 723-726
    • Gomez, E.1    Ledford, M.R.2    Pegelow, C.H.3    Reitsma, P.H.4    Bertina, R.M.5
  • 18
    • 23444453692 scopus 로고
    • Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I
    • Reitsma PH, Ploos van Amstel HK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-92.
    • (1994) J Clin Invest , vol.93 , pp. 486-492
    • Reitsma, P.H.1    Ploos van Amstel, H.K.2    Bertina, R.M.3
  • 19
    • 0028132684 scopus 로고
    • First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency
    • Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M. First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency. Blood Coag Fibrinol 1994; 5: 593-600.
    • (1994) Blood Coag Fibrinol , vol.5 , pp. 593-600
    • Borgel, D.1    Gandrille, S.2    Gouault-Heilmann, M.3    Aiach, M.4
  • 20
    • 0028871033 scopus 로고
    • Identification of 15 different candidate causal point mutations and 3 polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene
    • Gandrille S, Borgel D, Eschwège-Gufflet V, Aillaud MF, Dreyfus M, Matheron C, Gaussem P, Abgrall JF, Jude B, Sié P, Toulon P, Aiach M. Identification of 15 different candidate causal point mutations and 3 polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of the protein S active gene. Blood 1995; 85: 130-8.
    • (1995) Blood , vol.85 , pp. 130-138
    • Gandrille, S.1    Borgel, D.2    Eschwège-Gufflet, V.3    Aillaud, M.F.4    Dreyfus, M.5    Matheron, C.6    Gaussem, P.7    Abgrall, J.F.8    Jude, B.9    Sié, P.10    Toulon, P.11    Aiach, M.12
  • 21
    • 0029060076 scopus 로고
    • Identification of eight point mutations in protein S deficiency type I - Analysis of 15 pedigrees
    • Gomez E, Poort SR, Bertina RM, Reitsma PH. Identification of eight point mutations in protein S deficiency type I - Analysis of 15 pedigrees. Thromb Haemost 1995; 73: 750-5.
    • (1995) Thromb Haemost , vol.73 , pp. 750-755
    • Gomez, E.1    Poort, S.R.2    Bertina, R.M.3    Reitsma, P.H.4
  • 22
    • 0029021380 scopus 로고
    • A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA
    • Yamazaki T, Hamaguchi M, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H. A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA. Thromb Haemost 1995; 74: 590-5.
    • (1995) Thromb Haemost , vol.74 , pp. 590-595
    • Yamazaki, T.1    Hamaguchi, M.2    Katsumi, A.3    Kagami, K.4    Kojima, T.5    Takamatsu, J.6    Saito, H.7
  • 24
    • 0028818519 scopus 로고
    • Protein S deficiency type 1: Identification of point mutations in 9 of 10 families
    • Mustafa S, Pabinger I, Mannhalter C. Protein S deficiency type 1: Identification of point mutations in 9 of 10 families. Blood 1995; 86 :3444-51.
    • (1995) Blood , vol.86 , pp. 3444-3451
    • Mustafa, S.1    Pabinger, I.2    Mannhalter, C.3
  • 25
    • 0025217659 scopus 로고
    • Laboratory evaluation of protein S status
    • Comp PC. Laboratory evaluation of protein S status. Semin Thromb Hemost 1990; 16: 177-81.
    • (1990) Semin Thromb Hemost , vol.16 , pp. 177-181
    • Comp, P.C.1
  • 26
    • 0242581339 scopus 로고
    • Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus
    • Gyllensten UB, Erlich HA. Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci USA 1988; 85: 7652-6.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 7652-7656
    • Gyllensten, U.B.1    Erlich, H.A.2
  • 28
    • 0026351338 scopus 로고
    • Polymorphism in the protein C gene detected by denaturing gradient gel electrophoresis
    • Gandrille S, Aiach M. Polymorphism in the protein C gene detected by denaturing gradient gel electrophoresis. Nucl Acid Res 1991; 19: 6982.
    • (1991) Nucl Acid Res , vol.19 , pp. 6982
    • Gandrille, S.1    Aiach, M.2
  • 29
    • 0026072398 scopus 로고
    • The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: Heterogeneity and founder effects
    • Reitsma PH, Poort SR, Allaart CF, Briët E, Bertina RM. The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. Blood 1991: 78: 890-4.
    • (1991) Blood , vol.78 , pp. 890-894
    • Reitsma, P.H.1    Poort, S.R.2    Allaart, C.F.3    Briët, E.4    Bertina, R.M.5
  • 30
    • 0028270190 scopus 로고
    • Determination of the allelic and haplotype frequencies of three polymorphisms in the promoter region of the human protein C gene
    • Spek CA, Poort SR, Bertina RM, Reitsraa PH. Determination of the allelic and haplotype frequencies of three polymorphisms in the promoter region of the human protein C gene. Blood Coag Fibrmol 1994; 5: 309-11.
    • (1994) Blood Coag Fibrmol , vol.5 , pp. 309-311
    • Spek, C.A.1    Poort, S.R.2    Bertina, R.M.3    Reitsraa, P.H.4
  • 31
    • 0028240822 scopus 로고
    • Scanning method to establish the molecular basis of protein C deficiencies
    • Gandrille S, Goossens M, Aiach M. Scanning method to establish the molecular basis of protein C deficiencies. Hum Mut 1994; 4: 20-30.
    • (1994) Hum Mut , vol.4 , pp. 20-30
    • Gandrille, S.1    Goossens, M.2    Aiach, M.3
  • 32
  • 33
    • 0028053480 scopus 로고
    • First de novo mutations in the protein C gene of two patients with type I deficiency: A missence 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 missence mutation and a splice site deletion. Blood 1994; 84: 2566-70.
    • (1994) Blood , vol.84 , pp. 2566-2570
    • Gandrille, S.1    Jude, B.2    Alhenc-Gelas, M.3    Emmerich, J.4    Aiach, M.5
  • 34
    • 0027018911 scopus 로고
    • A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms
    • Ghanem N, Girodon E, Vidaud M, Martin J, Fanen P. Plassa F, Goossens M. A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms. Hum Mut 1992; 1: 229-39.
    • (1992) Hum Mut , vol.1 , pp. 229-239
    • Ghanem, N.1    Girodon, E.2    Vidaud, M.3    Martin, J.4    Fanen, P.5    Plassa, F.6    Goossens, M.7
  • 36
    • 0024604481 scopus 로고
    • Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction
    • Horn GT, Richards B, Klinger KW. Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction. Nucl Acid Res 1989; 17: 2140.
    • (1989) Nucl Acid Res , vol.17 , pp. 2140
    • Horn, G.T.1    Richards, B.2    Klinger, K.W.3
  • 38
    • 0024466645 scopus 로고
    • High-resolution analysis of a hypervariable region in the human apolipoprotein B gene
    • Ludwig EH, Friedl W, McCarthy BJ. High-resolution analysis of a hypervariable region in the human apolipoprotein B gene. Am J Hum Genet 1989; 45:458-64.
    • (1989) Am J Hum Genet , vol.45 , pp. 458-464
    • Ludwig, E.H.1    Friedl, W.2    McCarthy, B.J.3
  • 39
    • 3042871056 scopus 로고
    • Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: Application to the apolipoprotein B 3′ hypervariable region
    • Boerwinkle E, Xiong W, Fourest E, Chan L. Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: Application to the apolipoprotein B 3′ hypervariable region. Proc Natl Acad Sci USA 1989; 86: 212-6.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 212-216
    • Boerwinkle, E.1    Xiong, W.2    Fourest, E.3    Chan, L.4
  • 40
    • 0025183086 scopus 로고
    • Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene
    • Peake IR, Bowen D, Bignell P, Liddell MB, Sadler JE, Standen G, Bloom AL. Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene. Blood 1990; 76:555-61.
    • (1990) Blood , vol.76 , pp. 555-561
    • Peake, I.R.1    Bowen, D.2    Bignell, P.3    Liddell, M.B.4    Sadler, J.E.5    Standen, G.6    Bloom, A.L.7
  • 41
    • 0025018219 scopus 로고
    • Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence
    • Standen GR, Bignell P, Bowen DJ, Peake IR, Bloom AL. Family studies in von Willebrand's disease by analysis of restriction fragment length polymorphisms and an intragenic variable number tandem repeat (VNTR) sequence. Br J Haematol 1990; 76: 242-9.
    • (1990) Br J Haematol , vol.76 , pp. 242-249
    • Standen, G.R.1    Bignell, P.2    Bowen, D.J.3    Peake, I.R.4    Bloom, A.L.5
  • 42
    • 18144433437 scopus 로고
    • A CCA/CCG neutral polymorphism in the codon for Pro 626 of the human protein S gene PS alpha (PROS1)
    • Diepstraten CM, Ploos van Amstel JK, Reitsma PH, Bertina RM. A CCA/CCG neutral polymorphism in the codon for Pro 626 of the human protein S gene PS alpha (PROS1). Nucl Acid Res 1991; 19:5091.
    • (1991) Nucl Acid Res , vol.19 , pp. 5091
    • Diepstraten, C.M.1    Ploos van Amstel, J.K.2    Reitsma, P.H.3    Bertina, R.M.4
  • 43
    • 0027435938 scopus 로고
    • The rapid detection of unknown mutations in nucleic acids
    • Grompe M. The rapid detection of unknown mutations in nucleic acids. Nature Genetics 1993; 5: 111-7.
    • (1993) Nature Genetics , vol.5 , pp. 111-117
    • Grompe, M.1
  • 44
    • 0023154513 scopus 로고
    • Cloning and characterization of human liver cDNA encoding a protein S precursor
    • Hoskins JA, Norman DK, Beckmann RJ, Long GL. Cloning and characterization of human liver cDNA encoding a protein S precursor. Proc Natl Acad Sci USA 1987; 84: 349-53.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 349-353
    • Hoskins, J.A.1    Norman, D.K.2    Beckmann, R.J.3    Long, G.L.4
  • 45
    • 0010662163 scopus 로고
    • Primary structure of bovine vitamin K-dependent protein S
    • Dahlbäck B, Lundwall A. Stenflo J. Primary structure of bovine vitamin K-dependent protein S. Proc Natl Acad Sci USA 1986; 83:4199-203.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 4199-4203
    • Dahlbäck, B.1    Lundwall, A.2    Stenflo, J.3
  • 46
    • 0028323598 scopus 로고
    • Cloning and sequencing of a cDNA encoding the murine vitamin K-dependent protein S
    • Chu MD, Sun J. Bird P. Cloning and sequencing of a cDNA encoding the murine vitamin K-dependent protein S. Biochim Biophys Acta 1994; 1217: 325-8.
    • (1994) Biochim Biophys Acta , vol.1217 , pp. 325-328
    • Chu, M.D.1    Sun, J.2    Bird, P.3
  • 47
    • 0028949435 scopus 로고
    • Molecular cloning and functional characterization of rat plasma protein S
    • Yasuda F, Hayashi T, Tanitame K, Nishioka J, Suzuki K. Molecular cloning and functional characterization of rat plasma protein S. J Biochem 1995; 117: 374-83.
    • (1995) J Biochem , vol.117 , pp. 374-383
    • Yasuda, F.1    Hayashi, T.2    Tanitame, K.3    Nishioka, J.4    Suzuki, K.5
  • 48
    • 0028813821 scopus 로고
    • Identification of candidate residues for interaction of protein S with C4b binding protein and activated protein C
    • Greengard JS. Fernandez JA, Radkte KP, Griffin JH. Identification of candidate residues for interaction of protein S with C4b binding protein and activated protein C. Biochem J1995; 305:397-403.
    • (1995) Biochem J , vol.305 , pp. 397-403
    • Greengard, J.S.1    Fernandez, J.A.2    Radkte, K.P.3    Griffin, J.H.4
  • 51
    • 77951509701 scopus 로고
    • The rate of spontaneous mutation of a human gene
    • Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 1935; 31: 317-26.
    • (1935) J Genet , vol.31 , pp. 317-326
    • Haldane, J.B.S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.