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1
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78249264453
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A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia
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Arnaud, L., Saison, C., Helias, V., Lucien, N., Steschenko, D., Giarratana, M.C., Prehu, C., Foliguet, B., Montout, L., de Brevern, A.G., Francina, A., Ripoche, P., Fenneteau, O., Da Costa, L., Peyrard, T., Coghlan, G., Illum, N., Birgens, H., Tamary, H., Iolascon, A., Delaunay, J., Tchernia, G. & Cartron, J.P. (2010) A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. American Journal of Human Genetics, 87, 721-727.
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Cartron, J.P.23
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Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship
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Cazzola, M. & Invernizzi, R. (2010) Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship. Haematologica, 95, 693-695.
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In vitro proliferation and differentiation of erythroid progenitors from patients with myelodysplastic syndromes: evidence for Fas-dependent apoptosis
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Claessens, Y.E., Bouscary, D., Dupont, J.M., Picard, F., Melle, J., Gisselbrecht, S., Lacombe, C., Dreyfus, F., Mayeux, P. & Fontenay-Roupie, M. (2002) In vitro proliferation and differentiation of erythroid progenitors from patients with myelodysplastic syndromes: evidence for Fas-dependent apoptosis. Blood, 99, 1594-1601.
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Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1
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Dgany, O., Avidan, N., Delaunay, J., Krasnov, T., Shalmon, L., Shalev, H., Eidelitz-Markus, T., Kapelushnik, J., Cattan, D., Pariente, A., Tulliez, M., Cretien, A., Schischmanoff, P.O., Iolascon, A., Fibach, E., Koren, A., Rossler, J., Le Merrer, M., Yaniv, I., Zaizov, R., Ben-Asher, E., Olender, T., Lancet, D., Beckmann, J.S. & Tamary, H. (2002) Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. American Journal of Human Genetics, 71, 1467-1474.
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Regulators of iron balance in humans
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Finch, C. (1994) Regulators of iron balance in humans. Blood, 84, 1697-1702.
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Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts
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Renella, R., Roberts, N.A., Brown, J.M., De Gobbi, M., Bird, L.E., Hassanali, T., Sharpe, J.A., Sloane-Stanley, J., Ferguson, D.J., Cordell, J., Buckle, V.J., Higgs, D.R. & Wood, W.G. (2011) Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts. Blood, 117, 6928-6938.
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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
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Schwarz, K., Iolascon, A., Verissimo, F., Trede, N.S., Horsley, W., Chen, W., Paw, B.H., Hopfner, K.P., Holzmann, K., Russo, R., Esposito, M.R., Spano, D., De Falco, L., Heinrich, K., Joggerst, B., Rojewski, M.T., Perrotta, S., Denecke, J., Pannicke, U., Delaunay, J., Pepperkok, R. & Heimpel, H. (2009) Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nature Genetics, 41, 936-940.
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Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I
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Tamary, H., Shalev, H., Perez-Avraham, G., Zoldan, M., Levi, I., Swinkels, D.W., Tanno, T. & Miller, J.L. (2008) Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. Blood, 112, 5241-5244.
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High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin
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Tanno, T., Bhanu, N.V., Oneal, P.A., Goh, S.H., Staker, P., Lee, Y.T., Moroney, J.W., Reed, C.H., Luban, N.L., Wang, R.H., Eling, T.E., Childs, R., Ganz, T., Leitman, S.F., Fucharoen, S. & Miller, J.L. (2007) High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin. Nature Medicine, 13, 1096-1101.
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Tanno, T.1
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Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness
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Truksa, J., Lee, P. & Beutler, E. (2009) Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness. Blood, 113, 688-695.
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Truksa, J.1
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