메뉴 건너뛰기




Volumn 327, Issue 24, 1992, Pages 1729-1733

Complete Deficiency of Plasminogen-Activator Inhibitor Type 1 Due to a Frame-Shift Mutation

Author keywords

[No Author keywords available]

Indexed keywords

PLASMINOGEN ACTIVATOR INHIBITOR 1;

EID: 0026448949     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199212103272406     Document Type: Article
Times cited : (234)

References (28)
  • 3
    • 0022312075 scopus 로고
    • The primary plasminogen-activator inhibitors in endothelial cells, platelets, serum, and plasma are immunologically related
    • Erickson LA, Hekman CM, Loskutoff DJ. The primary plasminogen-activator inhibitors in endothelial cells, platelets, serum, and plasma are immunologically related. Proc Natl Acad Sci U S A 1985; 82: 8710–4.
    • (1985) Proc Natl Acad Sci U S A , vol.82 , pp. 8710-8714
    • Erickson, L.A.1    Hekman, C.M.2    Loskutoff, D.J.3
  • 4
    • 0025949379 scopus 로고
    • Regulation of murine type 1 plasminogen activator inhibitor gene expression in vivo: tissue specificity and induction by lipopolysaccharide, tumor necrosis factor-α, and transforming growth factor-β
    • Sawdey MS, Loskutoff DJ. Regulation of murine type 1 plasminogen activator inhibitor gene expression in vivo: tissue specificity and induction by lipopolysaccharide, tumor necrosis factor-α, and transforming growth factor-β. J Clin Invest 1991; 88: 1346–53.
    • (1991) J Clin Invest , vol.88 , pp. 1346-1353
    • Sawdey, M.S.1    Loskutoff, D.J.2
  • 6
    • 0022354051 scopus 로고
    • Increased plasma levels of a rapid inhibitor of tissue plasminogen activator in young survivors of myocardial infarction
    • Hamsten A, Wiman B, de Faire U, Blombåck M. Increased plasma levels of a rapid inhibitor of tissue plasminogen activator in young survivors of myocardial infarction. N Engl J Med 1985; 313: 1557–63.
    • (1985) N Engl J Med , vol.313 , pp. 1557-1563
    • Hamsten, A.1    Wiman, B.2    de Faire, U.3    Blombåck, M.4
  • 7
    • 0025371467 scopus 로고
    • Development of venous occlusions in mice transgenic for the plasminogen activator inhibitor-1 gene
    • Erickson LA, Fici GJ, Lund JE, Boyle TP, Polites HG, Marotti KR. Development of venous occlusions in mice transgenic for the plasminogen activator inhibitor-1 gene. Nature 1990; 346: 74–6.
    • (1990) Nature , vol.346 , pp. 74-76
    • Erickson, L.A.1    Fici, G.J.2    Lund, J.E.3    Boyle, T.P.4    Polites, H.G.5    Marotti, K.R.6
  • 8
    • 0025063772 scopus 로고
    • Increased proteolytic activity is responsible for the aberrant morphogenetic behavior of endothelial cells expressing the middle T oncogene
    • Montesano R, Pepper MS, Möhle-Steinlein U, Risau W, Wagner EF, Orci L. Increased proteolytic activity is responsible for the aberrant morphogenetic behavior of endothelial cells expressing the middle T oncogene. Cell 1990; 62: 435–45.
    • (1990) Cell , vol.62 , pp. 435-445
    • Montesano, R.1    Pepper, M.S.2    Möhle-Steinlein, U.3    Risau, W.4    Wagner, E.F.5    Orci, L.6
  • 9
    • 0025963416 scopus 로고
    • Tissue-specific and time-coordinated hormone regulation of plasminogen-activator-inhibitor type I and tissue-type plasminogen activator in the rat ovary during gonadotropin-induced ovulation
    • Liu Y-X, Peng X-R, Ny T. Tissue-specific and time-coordinated hormone regulation of plasminogen-activator-inhibitor type I and tissue-type plasminogen activator in the rat ovary during gonadotropin-induced ovulation. Eur J Biochem 1991; 195: 549–55.
    • (1991) Eur J Biochem , vol.195 , pp. 549-555
    • Liu, Y.-X.1    Peng, X.-R.2    Ny, T.3
  • 10
    • 0025696901 scopus 로고
    • Modulation of the malignant phenotype with the urokinase-type plasminogen activator and the type I plasminogen activator inhibitor
    • Sordat B, Reiter L, Cajot J-F. Modulation of the malignant phenotype with the urokinase-type plasminogen activator and the type I plasminogen activator inhibitor. Cell Differ Dev 1990; 32: 277–85.
    • (1990) Cell Differ Dev , vol.32 , pp. 277-285
    • Sordat, B.1    Reiter, L.2    Cajot, J.-F.3
  • 12
    • 0024558517 scopus 로고
    • Bleeding diathesis due to decreased functional activity of Type 1 plasminogen activator inhibitor
    • Schleef RR, Higgins DL, Pillemer E, Levitt LJ. Bleeding diathesis due to decreased functional activity of Type 1 plasminogen activator inhibitor. J Clin Invest 1989; 83: 1747–52.
    • (1989) J Clin Invest , vol.83 , pp. 1747-1752
    • Schleef, R.R.1    Higgins, D.L.2    Pillemer, E.3    Levitt, L.J.4
  • 13
    • 0025971596 scopus 로고
    • A lifelong bleeding disorder associated with a deficiency of plasminogen activator inhibitor type 1
    • Diéval J, Nguyen G, Gross S, Delobel J, Kruithof EKO. A lifelong bleeding disorder associated with a deficiency of plasminogen activator inhibitor type 1. Blood 1991; 77: 528–32.
    • (1991) Blood , vol.77 , pp. 528-532
    • Diéval, J.1    Nguyen, G.2    Gross, S.3    Delobel, J.4    Kruithof, E.K.O.5
  • 14
    • 0024669945 scopus 로고
    • Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA
    • Ginsburg D, Konkle BA, Gill JC, et al. Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA. Proc Natl Acad Sci U S A 1989; 86: 3723–7.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 3723-3727
    • Ginsburg, D.1    Konkle, B.A.2    Gill, J.C.3
  • 15
    • 46549096814 scopus 로고
    • Immunoradiometric assay to measure the binding of a specific inhibitor to tissue-type plasminogen activator
    • Schleef RR, Sinha M, Loskutoff DJ. Immunoradiometric assay to measure the binding of a specific inhibitor to tissue-type plasminogen activator. J Lab Clin Med 1985; 106: 408–15.
    • (1985) J Lab Clin Med , vol.106 , pp. 408-415
    • Schleef, R.R.1    Sinha, M.2    Loskutoff, D.J.3
  • 16
    • 0003903343 scopus 로고
    • Molecular cloning: a laboratory manual
    • 2nd ed. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press
    • Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press, 1989.
    • (1989)
    • Sambrook, J.1    Fritsch, E.F.2    Maniatis, T.3
  • 17
    • 0022852285 scopus 로고
    • cDNA cloning of human plasminogen activator—inhibitor from endothelial cells
    • Ginsburg D, Zeheb R, Yang AY, et al. cDNA cloning of human plasminogen activator—inhibitor from endothelial cells. J Clin Invest 1986; 78: 1673–80.
    • (1986) J Clin Invest , vol.78 , pp. 1673-1680
    • Ginsburg, D.1    Zeheb, R.2    Yang, A.Y.3
  • 18
    • 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 U S A 1988; 85: 7652–6.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 7652-7656
    • Gyllensten, U.B.1    Erlich, H.A.2
  • 19
    • 0025869633 scopus 로고
    • The molecular defect in Type IIB von Willebrand disease: identification of four potential missense mutations within the putative GpIb binding domain
    • Cooney KA, Nichols WC, Brack ME, et al. The molecular defect in Type IIB von Willebrand disease: identification of four potential missense mutations within the putative GpIb binding domain. J Clin Invest 1991; 87: 1227–33.
    • (1991) J Clin Invest , vol.87 , pp. 1227-1233
    • Cooney, K.A.1    Nichols, W.C.2    Brack, M.E.3
  • 20
    • 0025375533 scopus 로고
    • Detection of Philadelphia chromosome-positive cells from glass slide smears using the polymerase chain reaction
    • Hanson CA, Holbrook EA, Sheldon S, Schnitzer B, Roth MS. Detection of Philadelphia chromosome-positive cells from glass slide smears using the polymerase chain reaction. Am J Pathol 1990; 137: 1–6.
    • (1990) Am J Pathol , vol.137 , pp. 1-6
    • Hanson, C.A.1    Holbrook, E.A.2    Sheldon, S.3    Schnitzer, B.4    Roth, M.S.5
  • 21
    • 0026783247 scopus 로고
    • Saturation mutagenesis of the plasminogen activator inhibitor-1 reactive center
    • Sherman PM, Lawrence DA, Yang AY, et al. Saturation mutagenesis of the plasminogen activator inhibitor-1 reactive center. J Biol Chem 1992; 267: 7588–95.
    • (1992) J Biol Chem , vol.267 , pp. 7588-7595
    • Sherman, P.M.1    Lawrence, D.A.2    Yang, A.Y.3
  • 22
    • 0023937182 scopus 로고
    • Human plasminogen activator inhibitor-1 gene: promoter and structural gene nucleotide sequences
    • Bosma PJ, van den Berg EA, Kooistra T, Siemieniak DR, Slightom JL. Human plasminogen activator inhibitor-1 gene: promoter and structural gene nucleotide sequences. J Biol Chem 1988; 263: 9129–41.
    • (1988) J Biol Chem , vol.263 , pp. 9129-9141
    • Bosma, P.J.1    van den Berg, E.A.2    Kooistra, T.3    Siemieniak, D.R.4    Slightom, J.L.5
  • 23
    • 0026542473 scopus 로고
    • Slippage synthesis of simple sequence DNA
    • Schlötterer C, Tautz D. Slippage synthesis of simple sequence DNA. Nucleic Acids Res 1992; 20: 211–5.
    • (1992) Nucleic Acids Res , vol.20 , pp. 211-215
    • Schlötterer, C.1    Tautz, D.2
  • 24
    • 0025231787 scopus 로고
    • Use of polymerase chain reaction-detected sequence polymorphisms to document engraftment following allogeneic bone marrow transplantation
    • Roth MS, Antin JH, Bingham EL, Ginsburg D. Use of polymerase chain reaction-detected sequence polymorphisms to document engraftment following allogeneic bone marrow transplantation. Transplantation 1990; 49: 714–20.
    • (1990) Transplantation , vol.49 , pp. 714-720
    • Roth, M.S.1    Antin, J.H.2    Bingham, E.L.3    Ginsburg, D.4
  • 25
    • 0025162587 scopus 로고
    • Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA
    • Cheng J, Fogel-Petrovic M, Maquat LE. Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA. Mol Cell Biol 1990; 10: 5215–25.
    • (1990) Mol Cell Biol , vol.10 , pp. 5215-5225
    • Cheng, J.1    Fogel-Petrovic, M.2    Maquat, L.E.3
  • 26
    • 0026580101 scopus 로고
    • Secretion of α1-proteinase inhibitor requires an almost full length molecule
    • Brodbeck RM, Brown JL. Secretion of α1-proteinase inhibitor requires an almost full length molecule. J Biol Chem 1992; 267: 294–7.
    • (1992) J Biol Chem , vol.267 , pp. 294-297
    • Brodbeck, R.M.1    Brown, J.L.2
  • 27
    • 0026016865 scopus 로고
    • Genetic variation at the plasminogen activator inhibitor-1 locus is associated with altered levels of plasma plasminogen activator inhibitor-1 activity
    • Dawson S, Hamsten A, Wiman B, Henney A, Humphries S. Genetic variation at the plasminogen activator inhibitor-1 locus is associated with altered levels of plasma plasminogen activator inhibitor-1 activity. Arterioscler Thromb 1991; 11: 183–90.
    • (1991) Arterioscler Thromb , vol.11 , pp. 183-190
    • Dawson, S.1    Hamsten, A.2    Wiman, B.3    Henney, A.4    Humphries, S.5
  • 28
    • 0024328536 scopus 로고
    • Altering the genome by homologous recombination
    • Capecchi MR. Altering the genome by homologous recombination. Science 1989; 244: 1288–92.
    • (1989) Science , vol.244 , pp. 1288-1292
    • Capecchi, M.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.