Molecular Pathogenesis of Paroxysmal Nocturnal Hemoglobinuria

References

• Rosse, W. F. (1990). Phosphatidylinositol-linked proteins and paroxysmal nocturnal hemoglobinuria. Blood, 75, 1595.
   PubMed Web of Science ®Google Scholar
• Rosse, W. F. and Ware, R. E. (1995). The molecular basis of paroxysmal nocturnal hemoglobinuria. Blood, 86, 3277.
   PubMed Web of Science ®Google Scholar
• Socie, G., Mary, J.-Y., de Gramont, A., Rio, B., Leporrier, M., Rose, C., Heudier, P., Rochant, H., Cahn, J.-Y. and Gluckman, E. (1996). Paroxysmal nocturnal haemoglobinuria: long-term follow-up and prognostic factors. The lancet, 348, 573.
   PubMed Web of Science ®Google Scholar
• Kinoshita, T., Inoue, N. and Takeda, J. (1995). Defective glycosyl phosphatidylinositol anchor synthesis and paroxysmal nocturnal hemoglobinuria. Advances in Immunology, 60, 57.
   PubMed Web of Science ®Google Scholar
• Luzzatto, L. (1995). Paroxysmal nocturnal haemoglobinuria. XIIIth Meeting of the International Society of Hematology, 120.
   Google Scholar
• Kinoshita, T., Inoue, N. and Takeda, J. (1996). Role of phosphatidylinositol-linked proteins in paroxysmal nocturnal hemoglobinuria pathogenesis. Annual Review of Medicine, 47, 1.
   PubMed Web of Science ®Google Scholar
• Parker, C. J. (1996). Molecular basis of paroxysmal nocturnal hemoglobinuria. Stem Cells, 14, 396.
   PubMed Web of Science ®Google Scholar
• Luzzatto, L. and Bessler, M. (1996). The dual pathogenesis of paroxysmal nocturnal hemoglobinuria. Current Opinion in Hematology, 3, 101.
   PubMedGoogle Scholar
• Kinoshita, T. (1996). Molecular pathogenesis of paroxysmal nocturnal haemoglobinuria. XIIIth Meeting of the International Society of Hematology, 8.
   Google Scholar
• Luzzatto, L., Bessler, M. and Rotoli, B. (1997). Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguies? Cell, 88, 1.
   PubMed Web of Science ®Google Scholar
• Rosse, W. F. (1993). The glycolipid anchor of membrane surface proteins. Seminars in Hematology, 30, 219.
   PubMed Web of Science ®Google Scholar
• Lida, Y., Takeda, J., Miyata, T., Inoue, N., Nishimura, J.-I, Kitani, T., Maeda, K. and Kinoshita, T. (1994). Characterization of genomic PIG-A gene: a gene for glycosphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. Blood, 83, 3126.
   PubMed Web of Science ®Google Scholar
• Miyata, T., Takeda, J., Lida, Y., Yamada, N., Inoue, N., Takahashi, M., Maeda, K., Kitani, T. and Kinoshita, T. (1993). The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. Science, 259, 1318.
   PubMed Web of Science ®Google Scholar
• Takahashi, M., Inoue, N., Ohishi, K., Maeda, Y., Nakamura, N., Endo, Y., Fujita, T., Takeda, J. and Kinoshita, T. (1996). PIG-B, a membrane protein of the endoplasmic reticulum with a large lumenal domain, is involved in transferring the third mannose of the GPI anchor. The EMBO Journal, 15, 4254.
   PubMed Web of Science ®Google Scholar
• Inoue, N., Watanabe, R., Takeda, J. and Kinoshita, T. (1996). PIG-C, one of the three human genes involved in the first step of glycosylphosphatidylinositol biosynthesis is a homologue of saccharomyces cerevisiae GP12. Biochemical and Biophysical Research Communications, 226, 193.
   PubMed Web of Science ®Google Scholar
• Inoue, N., Kinoshita, T., Orii, T. and Takeda, J. (1993). Cloning of a human gene, PIG-F, a component of glycosyl-phosphatidylinositol anchor biosynthesis, by a novel expression cloning strategy. The Journal of Biological Chemistry, 268, 6882.
   PubMed Web of Science ®Google Scholar
• Kamitani, T., Chang, H. M., Rollins, C., Waneck, G. L. and Yeh, ETH (1993). Correction of the class H defect in glycosylphosphatidylinositol anochor biosynthesis in LtK-cells by a human cDNA clone. The Journal of Biological Chemistry, 268, 20733.
   PubMed Web of Science ®Google Scholar
• Watanabe, R., Kinoshita, T., Masaki, R., Yamamoto, A., Takeda, J. and Inoue, N. (1996). PIG-A and PIG-H, which participate in glycosylphosphatidylinosital anchor biosynthesis, form a protein complex in the endoplasmic reticulum. The Journal of Biological Chemistry, 271, 26868.
   PubMed Web of Science ®Google Scholar
• Bessler, M., Hillmen, P., Longo, L., Luzzatto, L. and Mason, P. J. (1994). Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21. Human Molecular Genetics, 3, 751.
   PubMed Web of Science ®Google Scholar
• Ohishi, K., Inoue, N., Endo, Y., Fujita, T., Takeda, J. and Kinoshita, T. (1995). Structure and chromosomal localization of the GPI-anchor synthesis gene PIGF and its pseudogene PIGF. Genomics, 29, 804.
   PubMed Web of Science ®Google Scholar
• Kawagoe, K., Kitamura, D., Okabe, M., Taniuchi, I., Ikawa, M., Watanabe, T., Kinoshita, T. and Takeda, J. (1996). Glycosylphosphatidylinositol-anchor-deficient mice: implications for clonal dominance of mutant cells in paroxysmal nocturnal hemoglobinur. Blood, 87, 3600.
   PubMed Web of Science ®Google Scholar
• Savoia, A., Ianzano, L., Lunardi, C, Sandre, G. D., Carotenuto, M., Musto, P. and Zelante, L. (1996). Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients. Human Genetics, 97, 45.
   PubMed Web of Science ®Google Scholar
• Nafa, K., Mason, P. J., Hillmen, P., Luzzatto, L. and Bessler, M. (1995). Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type. Blood, 86, 4650.
   PubMed Web of Science ®Google Scholar
• Bessler, M., Mason, P. J., Hillmen, P., Miyata, T., Yamada, N., Takeda, J., Luzzatto, L. and Kinoshita, T. (1994). Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. The EMBO Journal, 13, 110.
   PubMed Web of Science ®Google Scholar
• Yamada, N., Miyata, T., Maeda, K., Kitani, T., Takeda, J. and Kinoshita, T. (1995). Somatic mutations of the PIG-A gene found in Japanese patients with paroxysmal nouturnal hemoglobinuria. Blood, 85, 885.
   PubMed Web of Science ®Google Scholar
• Pramoonjago, P., Wanachiwanawin, W., Chinprasertsak, S., Pattanapanyasat, K., Takeda, J. and Kinoshita, T. (1995). Somatic mutations of PIG-A in Thai patients with paroxysmal nocturnal hemoglobinuria. Blood, 86, 1736.
   PubMed Web of Science ®Google Scholar
• Ware, R. E., Rosse, W. F. and Howard, T. A. (1994). Mutations within the piga gene in patients with paroxysmal nocturnal hemoglobinuria. Blood, 83, 2418.
   PubMed Web of Science ®Google Scholar
• Miyata, T., Yamada, N., Lida, Y., Nishimura, J.-I., Takeda, J., Kitani, T. and Kinoshita, T. (1994). Abnormalities of PIG-A transcripts granulocytes from patients with paroxysmal nocturnal hemoglobinuria. The New England Journal of Medicine, 330, 249.
   PubMed Web of Science ®Google Scholar
• Takeda, J., Miyata, T., Kawagoe, K., Lida, Y., Endo, Y., Fujita, T., Takahashi, M., Kitani, T. and Kinoshita, T. (1993). Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell, 73, 703.
   PubMed Web of Science ®Google Scholar
• Endo, M., Ware, R. E., Vreeke, T. M., Howard, T. A. and Parker, C. J. (1996). Identification and characterization of an inherited mutation of PIG-A in a patient with paroxysmal nocturnal haemoglobinuria. British Journal of Haematology, 93, 590.
   PubMed Web of Science ®Google Scholar
• Lin, L.-I., Liu, C.-H., Chen, Y.-C., Shen, M.-C., Wang, C.- H., Huang, Y.-L. and Lin, J.-K (1997). PIG-A gene mutations in four Taiwanese patients with paroxysmal nocturnal haemoglobinuria following aplastic anaemia. British Journal of Haemoatology, 97, 286.
   PubMed Web of Science ®Google Scholar
• Nishimura, J.-I., Inoue, N., Wada, H., Ueda, E., Pramoonjago, P., Hirota, T., Machii, T., Kageyama, T., Kanamaru, A., Takeda, J., Kinoshita, T. and Kitani, T. (1997). A patient with paroxysmal nocturnal hemoglobinuria bearing four independent PIG-A mutant clones. Blood, 89, 3470.
   PubMed Web of Science ®Google Scholar
• Nagarajan, S., Brodsky, R. A., Young, N. S. and Medof, M. E. (1995). Genetic defects underlying paroxysmal nocturnal hemoglobinuria that ariese out of aplastic anemia. Blood, 86, 4656.
   PubMed Web of Science ®Google Scholar
• Ostendorf, T., Nischan, C., Schubert, J., Grussenmeyer, T., Scholz, C., Zielinska Skowronek, M. and Schmidt, R. E. (1995). Heterogeneous PIG-A mutations in different cell lineages in paroxysmal nocturnal hemoglobinuria. Blood, 85, 1640.
   PubMed Web of Science ®Google Scholar
• Stafford, H. A., Nagarajan, S., Weinberg, J. B. and Medof, M. E. (1995). PIG-A, DAF and protooncogene expression in paroxysmal nocturnal haemoglobinuriaassociated acute myelogeneous leukaemia blasts. British Journal of Haematology, 89, 72.
   PubMed Web of Science ®Google Scholar
• Endo, M., Ware, R. E., Vreeke, T. M., Singh, S. P., Howard, T. A., Tomita, A., Holguin, M. H. and Parker, C. J. (1996). Molecular basis of the heterogeneity of expression of glycosyl phosphatidylinositol anchored proteins in paroxysmal nocturnal hemoglobinuria. Blood, 87, 2546.
   PubMed Web of Science ®Google Scholar
• Bessler, M., Mason, P. J., Hillmen, P. and Luzzatto, L. (1994). Somatic mutations and cellular selection in paroxysmal nocturnal haemoglobinuria. The lancet, 343, 951.
   PubMed Web of Science ®Google Scholar
• Kawahara, K., Witherspoon, R. P. and Storb, R. (1992). Marrow transplantation for paroxysmal nocturnal hemoglobinuria. American Journal of Hematology, 39, 283.
   PubMed Web of Science ®Google Scholar
• Tooze, J. A., Marsh, J. C. W., Wickham, N., Duke, O. L., Behrens, J. and Gordon-smith, E. C. (1993). Respones of aplastic anaemia and scleroderma to cyclosporin. British Journal of Haematology, 85, 829.
   PubMed Web of Science ®Google Scholar
• Kamp, H., Imhoff, G. W., Wolf, J. T. M., Smit, J. W., Halie, M. R. and Vellenga, E. (1995). The effect of cyclosporine on haematological parameters in patients with paroxysmal nocturnal haemoglobinuria. British Journal of Haematology, 89, 79.
   PubMed Web of Science ®Google Scholar
• Paquette, R. L., Yoshimura, R., Veiseh, C., Kunkel, L., Gejewski, J. and Rosen, P. J. (1997). Clinical characteristics predict response to antithymocyte globulin in paroxysmal nocturnal haemoglobinuria. British Journal of Haematology, 96, 92.
   PubMed Web of Science ®Google Scholar
• Maciejewski, J. P., Sloand, E. M., Sato, T., Anderson, S. and Young, N. S. (1997). Impaired hematopoiesis in paroxysmal nocturnal hemoglobinuria/aplastic anemia is not associated with a selective proliferative defect in the glycosylphosphatidylinositol-anchored protein deficient clone. Blood, 89, 1173.
   PubMed Web of Science ®Google Scholar
• Hillmen, P., Lewis, S. M., Bessler, M., Luzzatto, L. and Dacie, J. V. (1995). Natural history of paroxysmal nocturnal hemoglobinuria. The New England Journal of Medicine, 333, 1253.
   PubMed Web of Science ®Google Scholar
• Gordon, M. Y., Lewis, J. L., Marley, S. B., Grand, F. H. and Glodman, J. M. (1997). Stromal cells negatively regulate primitive haemopoietic progenitor cell activation via phosphatidylinositol anchored cell adhesion/signalling mechanism. British Journal of Haematology, 96, 647.
   PubMed Web of Science ®Google Scholar
• Schrezenmeier, H., Hertenstein, B., Wagner, B., Raghavachar, A. and Heimpel, H. (1995). A pathogentic 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. Experimental Hematology, 23, 81.
   PubMed Web of Science ®Google Scholar
• Nakakuma, H., Nagakura, S., Iwamoto, N., Kawaguchi, T., Hidaka, M., Horikawa, K., Kagimoto, T., Shido, T. and Takatsuki, K. (1995). Paroxysmal nocturnal hemoglobinuria clone in bone marrow of patients with pancytopenia. Blood, 85, 1371.
   PubMed Web of Science ®Google Scholar
• Schubert, J., Vogt, H. G., Zielinska-Skowronek, M., Freund, M., Kaltwasser, P., Hoelzer, D. and Schmidt, R. E. (1994). Development of the glycosylphosphatitylinositol-anchoring defect characteristic for paroxysmal nocturnal hemoglobinuria in patients with aplastic anemia. Blood, 83, 2323.
   PubMed Web of Science ®Google Scholar
• Ward, T., Pipkin, P. A., Clarkson, N. A., Stone, D. M., Minor, P. D. and Almond, J. W. (1994). Decay accelerating factor CD55 is identified as the receptor for echovirus 7 using CELICS, a rapid immuno-focal cloning method. The EMBO Journal, 13, 5070.
   PubMed Web of Science ®Google Scholar
• Bergelson, J. M., Chan, M., Solomon, K. R., John, N. F. S., Lin, H. and Finberg, R. W. (1994). Decay accelerating factor (CD55), a glycosylphosphatidylinositol-anchored complement regulatory protein, is receptor for several echoviruses. Proceedings of the National Academy of Sciences of the United States of America, 91, 6245.
   PubMed Web of Science ®Google Scholar
• Shafren, D. R., Bates, R. C., Agrez, M. V., Herd, R. L., Bums, G. and Barry, R. D. (1995). Coxsackieviruses B1, B3, and B5 use decay accelerating factor as a receptor for cell attachment. Journal of Virology, 69, 3873.
   PubMed Web of Science ®Google Scholar
• Dustin, M. L. and Springer, T. (1991). A role of lymphocyte adhesion receptors in transient interactions and cell locomotion. Annual Review of Immunology, 9, 27.
   PubMed Web of Science ®Google Scholar
• Hertenstein, B., Wagner, B., Bunjes, D., Duncker, C., Raghavachar, A., Arnold, R., Heimpel, H. and Schrezenmeier, H. (1995). Emergence of CD52-, phosphatidylinositolglycan-anchor deficient T lymphocytes after in vivo application of campath 1H for refractory B-cell non-hodgkin lymphoma. Blood, 86, 1487.
   PubMed Web of Science ®Google Scholar
• Lwamoto, N., Kawaguchi, T., Horikawa, K., Nagakura, S., Kagimoto, T., Suda, T., Takatsuki, K. and Nakakuma, H. (1996). Preferential hematopoiesis by paroxysmal nocturnal hemoglobinuria clone engrafted in SCID mice. Blood, 87, 4944.
   PubMed Web of Science ®Google Scholar
• Brodsky, R. A., Vala, M. S., Barber, J. P., Medof, M. E. and Jones, R. J. (1996). Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria (PNH). Blood, 88, 140a.
   Web of Science ®Google Scholar
• Hall, S. E. and Rosse, W. F. (1996). The use of monoclonal antibodies and flow cytometry in the diagnosis of paroxysmal nocturnal hemoglobinuria. Blood, 87, 5332.
   PubMed Web of Science ®Google Scholar
• Ware, R. E., Rosse, W. F. and Hall, S. E. (1995). Immunophenotypic analysis of reticulocytes in paroxysmal nocturnal hemoglobinuria. Blood, 86, 1586.
   PubMed Web of Science ®Google Scholar
• Narayanan, M. N., Geary, G. G., Freemont, A. J. and Kendra, J. R. (1994). Long-term follow-up aplastic anaemia. British Journal of Haematology, 86, 837.
   PubMed Web of Science ®Google Scholar
• Young, N. S. and Maciejewski, J. P. (1997). The pathophysiology of acquired aplastic anemia. The New England Journal of Medicine, 336, 1365.
   PubMed Web of Science ®Google Scholar
• Bacigalupo, A., Broccia, G., Corda, G., Arcese, W., Carotenuto, M., Gallamini, A., Locatelli, F., Mori, P. G., Saracco, P., Todeschini, G., Coser, P., Iacopino, P., van Lint, M. T. and Gluckman, E. (1995). Antilymphocyte globulin, cyclosporin, and granuloctye colony-stimulating factor in patients with acquired severe aplastic anemia (SAA): a pilot study of the EBMT SAA working party. Blood, 85, 1348.
   PubMed Web of Science ®Google Scholar
• Griscelli-Bennaceur, A., Gluckman, E., Scrobohaci, M. L., Jonveaux, P., Bazarbachi, T. V. A., Carosella, E. D., Sigaux, F. and Socie, G. (1995). Aplastic anemia and paroxysmal nocturnal hemoglobinuria: search for a pathogenetic link. Blood, 85, 1354.
   PubMed Web of Science ®Google Scholar
• Koeffler, H. P. (1996). Introduction myelodysplastic syndromes. Seminars in Hematology, 33, 87.
   PubMed Web of Science ®Google Scholar
• Lin, J. Y., Tooze, J. A., Marsh, J. C. W. and Matthey, F. (1996). Gordon-smith EC: Myelodysplasia following aplastic anaemia-paroxysmal nocturnal haemoglobinuria syndrome after treatment with immunosuppression and G-CSF: evidence for the emergence of a separate clone. British Journal to Haematology, 94, 510.
   PubMed Web of Science ®Google Scholar
• Longo, L., Bessler, M., Beris, P., Swirsky, D. and Luzzatto, L. (1994). Myelodysplasia in a patient with pre-existing paroxysmal nocturnal haemoglobinuria:a cloneal disease originating from within a clonal disease. British Journal of Haematology, 87, 401.
   PubMed Web of Science ®Google Scholar