A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
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A. D. de Brevern | L. D. Da Costa | H. Tamary | A. Iolascon | J. Cartron | P. Ripoche | T. Peyrard | H. Birgens | N. Lucien | B. Foliguet | O. Fenneteau | A. Francina | J. Delaunay | G. Tchernia | N. Illum | V. Helias | C. Saison | L. Arnaud | M. Giarratana | G. Coghlan | D. Steschenko | C. Préhu | Lory Montout
[1] H. Heimpel,et al. [Congenital dyserythropoietic anemia]. , 2020, Archiv fur klinische Medizin.
[2] M. Mezei,et al. Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Krüppel-like factor , 2010, Proceedings of the National Academy of Sciences.
[3] Timothy L Bailey,et al. A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells. , 2010, Genome research.
[4] F. Grosveld,et al. Haploinsufficiency for the erythroid transcription factor KLF1 causes Hereditary Persistence of Fetal Hemoglobin , 2010, Nature Genetics.
[5] K. Schwarz,et al. The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells , 2010, Haematologica.
[6] S. Orkin,et al. Advances in the understanding of haemoglobin switching , 2010, British journal of haematology.
[7] A. Zanella,et al. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene , 2009, Human mutation.
[8] U. Pannicke,et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II , 2009, Nature Genetics.
[9] W. Wood,et al. The congenital dyserythropoietic anemias. , 2009, Hematology/oncology clinics of North America.
[10] N. Burton,et al. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. , 2008, Blood.
[11] Kim Si,et al. Transcriptional control of erythropoiesis: emerging mechanisms and principles. , 2007 .
[12] H. Dyson,et al. Structure of the Wilms tumor suppressor protein zinc finger domain bound to DNA. , 2007, Journal of molecular biology.
[13] A. F. Cunha,et al. An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired erythropoiesis , 2006, Nature Genetics.
[14] A. McDowall,et al. A global role for EKLF in definitive and primitive erythropoiesis. , 2005, Blood.
[15] F. Grosveld,et al. The Erythroid Phenotype of EKLF-Null Mice: Defects in Hemoglobin Metabolism and Membrane Stability , 2005, Molecular and Cellular Biology.
[16] Laurent Kiger,et al. Ex vivo generation of fully mature human red blood cells from hematopoietic stem cells , 2005, Nature Biotechnology.
[17] J. Strouboulis,et al. Multiple interactions between regulatory regions are required to stabilize an active chromatin hub. , 2004, Genes & development.
[18] J. Beckmann,et al. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. , 2002, American journal of human genetics.
[19] S. Orkin,et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1 , 2000, Nature Genetics.
[20] C. Pabo,et al. High-resolution structures of variant Zif268-DNA complexes: implications for understanding zinc finger-DNA recognition. , 1998, Structure.
[21] T. Mak,et al. CD44 regulates hematopoietic progenitor distribution, granuloma formation, and tumorigenicity. , 1997, Blood.
[22] F. Grosveld,et al. Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene , 1995, Nature.
[23] S. Orkin,et al. Lethal β-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF , 1995, Nature.
[24] P. Agre,et al. Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels. , 1994, Science.
[25] J. Bieker,et al. Analyses of beta-thalassemia mutant DNA interactions with erythroid Krüppel-like factor (EKLF), an erythroid cell-specific transcription factor. , 1994, The Journal of biological chemistry.
[26] M. Poon,et al. Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia. , 1993, Blood.
[27] S. Wickramasinghe,et al. Congenital dyserythropoietic anaemia with novel intra‐erythroblastic and intra‐erythrocytic inclusions , 1991, British journal of haematology.
[28] Jennifer A. Mitchell,et al. Preferential associations between co-regulated genes reveal a transcriptional interactome in erythroid cells , 2010, Nature Genetics.
[29] E. Bresnick,et al. Transcriptional control of erythropoiesis: emerging mechanisms and principles , 2007, Oncogene.
[30] T. Mak,et al. Schmits, R. et al. CD44 regulates hematopoietic progenitor distribution, granuloma formation, and tumorigenicity. Blood 90, 2217-2233 , 1997 .
[31] J. Poole,et al. A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and a unique blood group phenotype [In(a-b-), Co(a-b-)]. , 1994, Blood.