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Volumn 20, Issue 4, 2006, Pages 627-634

High frequency of several PIG-A mutations in patients with aplastic anemia and myelodysplastic syndrome

Author keywords

Aplastic anemia (AA); Glycosylphosphatidylinositol (GPI) anchored membrane protein; Myelodysplastic syndrome (MDS); Paroxysmal nocturnal hemoglobinuria (PNH) clone(s); Phosphatidylinositol glycan class A (PIG A) gene

Indexed keywords

CD48 ANTIGEN; CD59 ANTIGEN; CYCLOSPORIN A; GENOMIC DNA; GLYCOSYLPHOSPHATIDYLINOSITOL; MEMBRANE PROTEIN; METENOLONE ACETATE; PHOSPHATIDYLINOSITOL GLYCAN A; PREDNISOLONE; THYMOCYTE ANTIBODY; UNCLASSIFIED DRUG;

EID: 33646490301     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2404135     Document Type: Article
Times cited : (23)

References (34)
  • 1
    • 0027310539 scopus 로고
    • Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
    • Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T et al. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 1993; 73: 703-711.
    • (1993) Cell , vol.73 , pp. 703-711
    • Takeda, J.1    Miyata, T.2    Kawagoe, K.3    Iida, Y.4    Endo, Y.5    Fujita, T.6
  • 2
    • 0027412627 scopus 로고
    • The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis
    • Miyata T, Takeda J, Iida Y, Yamada N, Inoue N, Takahashi M et al. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science 1993; 259: 1318-1320.
    • (1993) Science , vol.259 , pp. 1318-1320
    • Miyata, T.1    Takeda, J.2    Iida, Y.3    Yamada, N.4    Inoue, N.5    Takahashi, M.6
  • 3
    • 0036439028 scopus 로고    scopus 로고
    • A new aspect of the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria
    • Shichishima T, Noji H. A new aspect of the molecular pathogenesis of paroxysmal nocturnal hemoglobinuria. Hematology 2002; 7: 211-227.
    • (2002) Hematology , vol.7 , pp. 211-227
    • Shichishima, T.1    Noji, H.2
  • 4
    • 0026596863 scopus 로고
    • The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated
    • Young NS. The problem of clonality in aplastic anemia: Dr Dameshek's riddle, restated. Blood 1992; 79: 1385-1392.
    • (1992) Blood , vol.79 , pp. 1385-1392
    • Young, N.S.1
  • 5
    • 0028295447 scopus 로고
    • Development of the glycosylphosphatidylinositol-anchoring defect characteristic for paroxysmal nocturnal hemoglobinuria in patients with aplastic anemia
    • Schubert J, Vogt HG, Zielinska-Skowronek M, Freund M, Kaltwasser JP, Hoelzer D et al. Development of the glycosylphosphatidylinositol-anchoring defect characteristic for paroxysmal nocturnal hemoglobinuria in patients with aplastic anemia. Blood 1994; 83: 2323-2328.
    • (1994) Blood , vol.83 , pp. 2323-2328
    • Schubert, J.1    Vogt, H.G.2    Zielinska-Skowronek, M.3    Freund, M.4    Kaltwasser, J.P.5    Hoelzer, D.6
  • 6
    • 0028897137 scopus 로고
    • A pathogenetic link between aplastic anemia and paroxysmal nocturnal hemoglobinuria is suggested by a high frequency of aplastic anemia patients with a deficiency of phosphatidylinositol glycan anchored proteins
    • Schrezenmeier H, Hertenstein B, Wagner B, Raghavachar A, Heimpel H. A pathogenetic link between aplastic anemia and paroxysmal nocturnal hemoglobinuria is suggested by a high frequency of aplastic anemia patients with a deficiency of phosphatidylinositol glycan anchored proteins. Exp Hematol 1995; 23: 81-87.
    • (1995) Exp Hematol , vol.23 , pp. 81-87
    • Schrezenmeier, H.1    Hertenstein, B.2    Wagner, B.3    Raghavachar, A.4    Heimpel, H.5
  • 7
    • 0029617630 scopus 로고
    • The novel monoclonal antibody By114 helps detect the early emergence of a paroxysmal nocturnal hemoglobinuria clone in aplastic anemia
    • Tooze JA, Saso R, Marsh JCW, Papadopoulos A, Pulford K, Gordon-Smith EC. The novel monoclonal antibody By114 helps detect the early emergence of a paroxysmal nocturnal hemoglobinuria clone in aplastic anemia. Exp Hematol 1995; 23: 1484-1491.
    • (1995) Exp Hematol , vol.23 , pp. 1484-1491
    • Tooze, J.A.1    Saso, R.2    Marsh, J.C.W.3    Papadopoulos, A.4    Pulford, K.5    Gordon-Smith, E.C.6
  • 8
    • 0028909774 scopus 로고
    • Quality of hematologic recovery in patients with aplastic anemia following cyclosporine therapy
    • Yamaguchi M, Nakao S, Takamatsu H, Chuhjo T, Shiobara S, Matsuda T. Quality of hematologic recovery in patients with aplastic anemia following cyclosporine therapy. Exp Hematol 1995; 23: 341-346.
    • (1995) Exp Hematol , vol.23 , pp. 341-346
    • Yamaguchi, M.1    Nakao, S.2    Takamatsu, H.3    Chuhjo, T.4    Shiobara, S.5    Matsuda, T.6
  • 10
    • 0031970548 scopus 로고    scopus 로고
    • Deficiency of glycosilphosphatidyl inositol-anchored proteins in patients with aplastic anaemia does not affect response to immunosuppressive therapy
    • De Lord C, Tooze JA, Saso R, March JCW, Gordon-Smith EC. Deficiency of glycosilphosphatidyl inositol-anchored proteins in patients with aplastic anaemia does not affect response to immunosuppressive therapy. Br J Haematol 1998; 101: 90-93.
    • (1998) Br J Haematol , vol.101 , pp. 90-93
    • De Lord, C.1    Tooze, J.A.2    Saso, R.3    March, J.C.W.4    Gordon-Smith, E.C.5
  • 11
    • 0032985977 scopus 로고    scopus 로고
    • CD59-deficient blood cells and PIG-A gene abnormalities in Japanese patients with aplastic anaemia
    • Azenishi Y, Ueda E, Machii T, Nishimura J, Hirota T, Shibano M et al. CD59-deficient blood cells and PIG-A gene abnormalities in Japanese patients with aplastic anaemia. Br J Haematol 1999; 104: 523-529.
    • (1999) Br J Haematol , vol.104 , pp. 523-529
    • Azenishi, Y.1    Ueda, E.2    Machii, T.3    Nishimura, J.4    Hirota, T.5    Shibano, M.6
  • 13
    • 0032703227 scopus 로고    scopus 로고
    • Coexistence of normal and clonal haemopoiesis in aplastic anaemia patients treated with immunosuppressive therapy
    • Piaggio G, Podestà M, Pitto A, Sessarego M, Figari O, Fugazza G et al. Coexistence of normal and clonal haemopoiesis in aplastic anaemia patients treated with immunosuppressive therapy. Br J Haematol 1999; 107: 505-511.
    • (1999) Br J Haematol , vol.107 , pp. 505-511
    • Piaggio, G.1    Podestà, M.2    Pitto, A.3    Sessarego, M.4    Figari, O.5    Fugazza, G.6
  • 14
    • 0035058599 scopus 로고    scopus 로고
    • Relative increase of granulocytes with a paroxysmal nocturnal haemoglobinuria phenotype in aplastic anaemia patients: The high prevalence at diagnosis
    • Wang H, Chuhjo T, Yamazaki H, Shiobara S, Teramura M, Mizoguchi H et al. Relative increase of granulocytes with a paroxysmal nocturnal haemoglobinuria phenotype in aplastic anaemia patients: The high prevalence at diagnosis. Eur J Haematol 2001; 66: 200-205.
    • (2001) Eur J Haematol , vol.66 , pp. 200-205
    • Wang, H.1    Chuhjo, T.2    Yamazaki, H.3    Shiobara, S.4    Teramura, M.5    Mizoguchi, H.6
  • 15
    • 0031822254 scopus 로고    scopus 로고
    • Paroxysmal nocturnal haemoglobinuria clones in patients with myelodysplastic syndromes
    • Iwanaga M, Furukawa K, Amenomori T, Mori H, Nakamura H, Fuchigami K et al. Paroxysmal nocturnal haemoglobinuria clones in patients with myelodysplastic syndromes. Br J Haematol 1998; 102: 465-474.
    • (1998) Br J Haematol , vol.102 , pp. 465-474
    • Iwanaga, M.1    Furukawa, K.2    Amenomori, T.3    Mori, H.4    Nakamura, H.5    Fuchigami, K.6
  • 16
    • 18044374517 scopus 로고    scopus 로고
    • Detection of CD55 and/or CD59 deficient red cell populations in patients with aplastic anaemia, myelodysplastic syndromes and myeloproliferative disorders
    • Meletis J, Terpos E, Samarkos M, Meletis C, Konstantopoulos K, Komninaka V et al. Detection of CD55 and/or CD59 deficient red cell populations in patients with aplastic anaemia, myelodysplastic syndromes and myeloproliferative disorders. Haematologia 2001; 31: 7-16.
    • (2001) Haematologia , vol.31 , pp. 7-16
    • Meletis, J.1    Terpos, E.2    Samarkos, M.3    Meletis, C.4    Konstantopoulos, K.5    Komninaka, V.6
  • 17
    • 0036893544 scopus 로고    scopus 로고
    • Clinical significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome
    • Wang H, Chuhjo T, Yasue S, Omine M, Nakao S. Clinical significance of a minor population of paroxysmal nocturnal hemoglobinuria-type cells in bone marrow failure syndrome. Blood 2002; 100: 3897-3902.
    • (2002) Blood , vol.100 , pp. 3897-3902
    • Wang, H.1    Chuhjo, T.2    Yasue, S.3    Omine, M.4    Nakao, S.5
  • 18
    • 0032951025 scopus 로고    scopus 로고
    • Detection of GPI-anchored protein-deficient cells in patients with aplastic anaemia and evidence for clonal expansion during the clinical course
    • Kawaguchi K, Wada H, Mori A, Takemoto Y, Kakishita E, Kanamaru A. Detection of GPI-anchored protein-deficient cells in patients with aplastic anaemia and evidence for clonal expansion during the clinical course. Br J Haematol 1999; 105: 80-84.
    • (1999) Br J Haematol , vol.105 , pp. 80-84
    • Kawaguchi, K.1    Wada, H.2    Mori, A.3    Takemoto, Y.4    Kakishita, E.5    Kanamaru, A.6
  • 19
    • 0037769826 scopus 로고    scopus 로고
    • The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): A high incidence of multiple mutations and evidence of a mutational hot spot
    • Mortazavi Y, Merk B, McIntosh J, Marsh JCW, Schrezenmeier H, Rutherford TR. The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): A high incidence of multiple mutations and evidence of a mutational hot spot. Blood 2003; 101: 2833-2841.
    • (2003) Blood , vol.101 , pp. 2833-2841
    • Mortazavi, Y.1    Merk, B.2    McIntosh, J.3    Marsh, J.C.W.4    Schrezenmeier, H.5    Rutherford, T.R.6
  • 20
    • 0023576003 scopus 로고
    • Incidence of aplastic anemia: The relevance of diagnostic criteria
    • International Agranulocytosis and Aplastic Anemia Study
    • International Agranulocytosis and Aplastic Anemia Study. Incidence of aplastic anemia: The relevance of diagnostic criteria. Blood 1987; 70: 1718-1721.
    • (1987) Blood , vol.70 , pp. 1718-1721
  • 21
    • 0025865140 scopus 로고
    • Treatment of aplastic anemia with antilymphocyte globulin and methylprednisolone with or without cyclosporine
    • Frickhofen N, Kaltwasser JP, Schrezenmeier H, Raghavachar A, Vogt HG, Herrmann F et al. Treatment of aplastic anemia with antilymphocyte globulin and methylprednisolone with or without cyclosporine. N Engl J Med 1991; 324: 1297-1304.
    • (1991) N Engl J Med , vol.324 , pp. 1297-1304
    • Frickhofen, N.1    Kaltwasser, J.P.2    Schrezenmeier, H.3    Raghavachar, A.4    Vogt, H.G.5    Herrmann, F.6
  • 22
    • 0019952276 scopus 로고
    • Proposals for the classification of the myelodysplastic syndromes
    • The French-American-British (FAB) Cooperative Group
    • Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR et al. The French-American-British (FAB) Cooperative Group. Proposals for the classification of the myelodysplastic syndromes. Br J Heamatol 1982; 51: 189-199.
    • (1982) Br J Heamatol , vol.51 , pp. 189-199
    • Bennett, J.M.1    Catovsky, D.2    Daniel, M.T.3    Flandrin, G.4    Galton, D.A.5    Gralnick, H.R.6
  • 23
    • 0025774079 scopus 로고
    • Heterogenous expression of decay accelerating factor and CD59/membrane attack complex inhibition factor on paroxysmal nocturnal haemoglobinuria (PNH) erythrocytes
    • Shichishima T, Terasawa T, Hashimoto C, Ohto H, Uchida T, Maruyama Y. Heterogenous expression of decay accelerating factor and CD59/membrane attack complex inhibition factor on paroxysmal nocturnal haemoglobinuria (PNH) erythrocytes. Br J Haematol 1991; 78: 545-550.
    • (1991) Br J Haematol , vol.78 , pp. 545-550
    • Shichishima, T.1    Terasawa, T.2    Hashimoto, C.3    Ohto, H.4    Uchida, T.5    Maruyama, Y.6
  • 24
    • 0029981029 scopus 로고    scopus 로고
    • The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria
    • Hall SE, Rosse WF. The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood 1996; 87: 5332-5340.
    • (1996) Blood , vol.87 , pp. 5332-5340
    • Hall, S.E.1    Rosse, W.F.2
  • 25
    • 0014060844 scopus 로고
    • The aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome
    • Lewis SM, Dacie JP. The aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome. Br J Haematol 1967; 13: 236-251.
    • (1967) Br J Haematol , vol.13 , pp. 236-251
    • Lewis, S.M.1    Dacie, J.P.2
  • 26
    • 0024424989 scopus 로고
    • Amino-terminal amino acid sequence and chemical and functional properties of a membrane attack complex-inhibitory factor from human erythrocyte membranes
    • Sugita Y, Mazda T, Tomita M. Amino-terminal amino acid sequence and chemical and functional properties of a membrane attack complex-inhibitory factor from human erythrocyte membranes. J Biochem 1989; 106: 589-592.
    • (1989) J Biochem , vol.106 , pp. 589-592
    • Sugita, Y.1    Mazda, T.2    Tomita, M.3
  • 27
    • 0027380002 scopus 로고
    • Diagnosis of paroxysmal nocturnal haemoglobinuria by phenotypic analysis of erythrocytes using two-colour flow cytometry with monoclonal antibodies to DAF and CD59/MACIF
    • Shichishima T, Terasawa T, Saitoh Y, Hashimoto C, Ohto H, Maruyama Y. Diagnosis of paroxysmal nocturnal haemoglobinuria by phenotypic analysis of erythrocytes using two-colour flow cytometry with monoclonal antibodies to DAF and CD59/MACIF. Br J Haematol 1993; 85: 378-386.
    • (1993) Br J Haematol , vol.85 , pp. 378-386
    • Shichishima, T.1    Terasawa, T.2    Saitoh, Y.3    Hashimoto, C.4    Ohto, H.5    Maruyama, Y.6
  • 28
    • 0035053036 scopus 로고    scopus 로고
    • The distribution of PIG-A gene abnormalities in paroxysmal nocturnal hemoglobinuria granulocytes and cultured erythroblasts
    • Noji H, Shichishima T, Saitoh Y, Kai T, Yamamoto T, Ogawa K et al. The distribution of PIG-A gene abnormalities in paroxysmal nocturnal hemoglobinuria granulocytes and cultured erythroblasts. Exp Hematol 2001; 29: 391-400.
    • (2001) Exp Hematol , vol.29 , pp. 391-400
    • Noji, H.1    Shichishima, T.2    Saitoh, Y.3    Kai, T.4    Yamamoto, T.5    Ogawa, K.6
  • 29
    • 0037111663 scopus 로고    scopus 로고
    • Phenotypes and phosphatidylinositol glycan-class A gene abnormalities during cell differentiation and maturation from precursor cells to mature granulocytes in patients with paroxysmal nocturnal hemoglobinuria
    • Kai T, Shichishima T, Noji H, Yamamoto T, Okamoto M, Ikeda K et al. Phenotypes and phosphatidylinositol glycan-class A gene abnormalities during cell differentiation and maturation from precursor cells to mature granulocytes in patients with paroxysmal nocturnal hemoglobinuria. Blood 2002; 100: 3812-3818.
    • (2002) Blood , vol.100 , pp. 3812-3818
    • Kai, T.1    Shichishima, T.2    Noji, H.3    Yamamoto, T.4    Okamoto, M.5    Ikeda, K.6
  • 30
    • 0028290901 scopus 로고
    • Characterization of genomic PIG-A gene: A gene for glycosylphosphatidylinositolanchor biosynthesis and paroxysmal nocturnal hemoglobinuria
    • Iida Y, Takeda J, Miyata T, Inoue N, Nishimura J, Kitani T et al. Characterization of genomic PIG-A gene: A gene for glycosylphosphatidylinositolanchor biosynthesis and paroxysmal nocturnal hemoglobinuria. Blood 1994; 83: 3126-3131.
    • (1994) Blood , vol.83 , pp. 3126-3131
    • Iida, Y.1    Takeda, J.2    Miyata, T.3    Inoue, N.4    Nishimura, J.5    Kitani, T.6
  • 31
    • 0033609114 scopus 로고    scopus 로고
    • Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals
    • Araten DJ, Nafa K, Pakdeesuwan K, Luzzatto L. Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals. Proc Natl Acad Sci USA 1999; 96: 5209-5214.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 5209-5214
    • Araten, D.J.1    Nafa, K.2    Pakdeesuwan, K.3    Luzzatto, L.4
  • 33
    • 0029887115 scopus 로고    scopus 로고
    • The dual pathogenesis of paroxysmal nocturnal hemoglobinura
    • Luzzatto L, Bessler M. The dual pathogenesis of paroxysmal nocturnal hemoglobinura. Curr Opin Hematol 1996; 3: 101-110.
    • (1996) Curr Opin Hematol , vol.3 , pp. 101-110
    • Luzzatto, L.1    Bessler, M.2
  • 34
    • 0037089219 scopus 로고    scopus 로고
    • Long-term support of hematopoiesis by a single stem cell clone in patients with paroxysmal nocturnal hemoglobinuria
    • Nishimura J, Hirota T, Kanakura Y, Machii T, Kageyama T, Doi S et al. Long-term support of hematopoiesis by a single stem cell clone in patients with paroxysmal nocturnal hemoglobinuria. Blood 2002; 99: 2748-2751.
    • (2002) Blood , vol.99 , pp. 2748-2751
    • Nishimura, J.1    Hirota, T.2    Kanakura, Y.3    Machii, T.4    Kageyama, T.5    Doi, S.6


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