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MeSH Review

Anemia, Diamond-Blackfan

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Disease relevance of Anemia, Diamond-Blackfan


High impact information on Anemia, Diamond-Blackfan


Chemical compound and disease context of Anemia, Diamond-Blackfan


Biological context of Anemia, Diamond-Blackfan


Anatomical context of Anemia, Diamond-Blackfan


Gene context of Anemia, Diamond-Blackfan


Analytical, diagnostic and therapeutic context of Anemia, Diamond-Blackfan


  1. Elevation of the serum Fas ligand in patients with hemophagocytic syndrome and Diamond-Blackfan anemia. Hasegawa, D., Kojima, S., Tatsumi, E., Hayakawa, A., Kosaka, Y., Nakamura, H., Sako, M., Osugi, Y., Nagata, S., Sano, K. Blood (1998) [Pubmed]
  2. Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. Da Costa, L., Tchernia, G., Gascard, P., Lo, A., Meerpohl, J., Niemeyer, C., Chasis, J.A., Fixler, J., Mohandas, N. Blood (2003) [Pubmed]
  3. Chronic parvovirus infection and G6PD deficiency masquerading as Diamond-Blackfan anemia. Parekh, S., Perez, A., Yang, X.Y., Billett, H. Am. J. Hematol. (2005) [Pubmed]
  4. Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia. Flygare, J., Kiefer, T., Miyake, K., Utsugisawa, T., Hamaguchi, I., Da Costa, L., Richter, J., Davey, E.J., Matsson, H., Dahl, N., Wiznerowicz, M., Trono, D., Karlsson, S. Blood (2005) [Pubmed]
  5. An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray. Ebert, B.L., Lee, M.M., Pretz, J.L., Subramanian, A., Mak, R., Golub, T.R., Sieff, C.A. Blood (2005) [Pubmed]
  6. Diamond-Blackfan anemia responding to valproic acid. Jabr, F.I., Aoun, E., Azar, C., Taher, A. Blood (2004) [Pubmed]
  7. Expression of SCL is normal in transfusion-dependent Diamond-Blackfan anemia but other bHLH proteins are deficient. Zhang, M.Y., Clawson, G.A., Olivieri, N.F., Bell, L.L., Begley, C.G., Miller, B.A. Blood (1997) [Pubmed]
  8. Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. Dianzani, I., Garelli, E., Dompè, C., Crescenzio, N., Locatelli, F., Schilirò, G., Castaman, G., Bagnara, G.P., Olivieri, N.F., Gabutti, V., Ramenghi, U. Blood (1996) [Pubmed]
  9. Oral megadose methylprednisolone for Diamond-Blackfan anemia. Ozsoylu, S. Blood (1994) [Pubmed]
  10. High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone. Bernini, J.C., Carrillo, J.M., Buchanan, G.R. J. Pediatr. (1995) [Pubmed]
  11. Lack of effect of corticosteroids in W/Wv and S1/S1d mice: these strains are not a model for steroid-responsive Diamond-Blackfan anemia. Alter, B.P., Gaston, T., Lipton, J.M. Eur. J. Haematol. (1993) [Pubmed]
  12. Cyclosporin A for Diamond-Blackfan anemia: a new case. Monteserin, M.C., Garcia Vela, J.A., Oña, F., Lastra, A.M. Am. J. Hematol. (1993) [Pubmed]
  13. Sustained cyclosporine-induced erythropoietic response in identical male twins with diamond-blackfan anemia. Bobey, N.A., Carcao, M., Dror, Y., Freedman, M.H., Dahl, N., Woodman, R.C. J. Pediatr. Hematol. Oncol. (2003) [Pubmed]
  14. Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia. Abkowitz, J.L., Broudy, V.C., Bennett, L.G., Zsebo, K.M., Martin, F.H. Blood (1992) [Pubmed]
  15. Human calcium-activated potassium channel gene KCNN4 maps to chromosome 19q13.2 in the region deleted in diamond-blackfan anemia. Ghanshani, S., Coleman, M., Gustavsson, P., Wu, A.C., Gargus, J.J., Gutman, G.A., Dahl, N., Mohrenweiser, H., Chandy, K.G. Genomics (1998) [Pubmed]
  16. Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia. Matsson, H., Davey, E.J., Fröjmark, A.S., Miyake, K., Utsugisawa, T., Flygare, J., Zahou, E., Byman, I., Landin, B., Ronquist, G., Karlsson, S., Dahl, N. Blood Cells Mol. Dis. (2006) [Pubmed]
  17. Diamond-blackfan anemia: in vitro response of erythroid progenitors to the ligand for c-kit. Abkowitz, J.L., Sabo, K.M., Nakamoto, B., Blau, C.A., Martin, F.H., Zsebo, K.M., Papayannopoulou, T. Blood (1991) [Pubmed]
  18. In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia. Bagnara, G.P., Zauli, G., Vitale, L., Rosito, P., Vecchi, V., Paolucci, G., Avanzi, G.C., Ramenghi, U., Timeus, F., Gabutti, V. Blood (1991) [Pubmed]
  19. Growth hormone deficiency caused by pituitary stalk interruption in Diamond-Blackfan anemia. Leblanc, T., Gluckman, E., Brauner, R. J. Pediatr. (2003) [Pubmed]
  20. Stem cell factor production by human marrow stromal fibroblasts. Linenberger, M.L., Jacobson, F.W., Bennett, L.G., Broudy, V.C., Martin, F.H., Abkowitz, J.L. Exp. Hematol. (1995) [Pubmed]
  21. Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Harris, R.E., Baehner, R.L., Gleiser, S., Weaver, D.D., Hodes, M.E. Am. J. Med. Genet. (1981) [Pubmed]
  22. Diamond-Blackfan anemia: promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. Halperin, D.S., Estrov, Z., Freedman, M.H. Blood (1989) [Pubmed]
  23. Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia. Quigley, J.G., Gazda, H., Yang, Z., Ball, S., Sieff, C.A., Abkowitz, J.L. Blood Cells Mol. Dis. (2005) [Pubmed]
  24. Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Matsson, H., Davey, E.J., Draptchinskaia, N., Hamaguchi, I., Ooka, A., Levéen, P., Forsberg, E., Karlsson, S., Dahl, N. Mol. Cell. Biol. (2004) [Pubmed]
  25. Successful transplantation of CD34+ selected peripheral blood stem cells from an unrelated donor in an adult patient with Diamond-Blackfan anemia and secondary hemochromatosis. Berndt, A., Helwig, A., Ehninger, G., Bornhäuser, M. Bone Marrow Transplant. (2005) [Pubmed]
  26. Study of 22 Egyptian patients with Diamond-Blackfan anemia, corticosteroids, and cyclosporin therapy results. El-Beshlawy, A., Ibrahim, I.Y., Rizk, S., Eid, K. Pediatrics (2002) [Pubmed]
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