. . "\u010Cmejlov\u00E1, Jana" . "IT - Italsk\u00E1 republika" . . "3"^^ . . "0"^^ . "0"^^ . "RIV/00023736:_____/02:00000114" . . "ELT30" . "\u010Cmejla, Radek" . . . "667217" . "2"^^ . . "87" . . "Diamond-Blackfan anaemia is a congenital disorder characterised by severe hypoplastic anaemia accompanied in 40% of patients by various physical anomalies. Ribosomal protein S19 (19q13 region) was identified to be the DBA1 gene, and the transcription factor GATA-4 (8p23 region) was hypothesised to be the DBA2 gene. Here we report that in 15 patients no mutations in GATA-4 gene have been identified. GATA-4 mRNA was not detected either in mononuclear cells or in CD34+ cells isolated from cord blood and bone marrow. We conclude that GATA-4 is not the gene responsible for DBA. The importance of 8p23 locus in DBA pathogenesis is discussed."@en . "0390-6078" . "1"^^ . "RIV/00023736:_____/02:00000114!RIV/2003/MZ0/L33003/N" . "Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia." . "7" . "[4B8CBC3E55E9]" . . . "Posp\u00ED\u0161ilov\u00E1, D." . "Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia."@en . "Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia." . "P(NE6689)" . . . "Diamond-Blackfan anaemia; transcription factor GATA-4; 8p23 locus; congenital heart defects"@en . "Haematologica" . . "Diamond-Blackfan anaemia is a congenital disorder characterised by severe hypoplastic anaemia accompanied in 40% of patients by various physical anomalies. Ribosomal protein S19 (19q13 region) was identified to be the DBA1 gene, and the transcription factor GATA-4 (8p23 region) was hypothesised to be the DBA2 gene. Here we report that in 15 patients no mutations in GATA-4 gene have been identified. GATA-4 mRNA was not detected either in mononuclear cells or in CD34+ cells isolated from cord blood and bone marrow. We conclude that GATA-4 is not the gene responsible for DBA. The importance of 8p23 locus in DBA pathogenesis is discussed." . "Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia."@en . . . .