About: Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia.     Goto   Sponge   NotDistinct   Permalink

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  • 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.
  • 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)
Title
  • Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia.
  • Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia. (en)
skos:prefLabel
  • Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia.
  • Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia. (en)
skos:notation
  • RIV/00023736:_____/02:00000114!RIV/2003/MZ0/L33003/N
http://linked.open.../vavai/riv/strany
  • ELT30
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  • 667217
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  • RIV/00023736:_____/02:00000114
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  • Diamond-Blackfan anaemia; transcription factor GATA-4; 8p23 locus; congenital heart defects (en)
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  • IT - Italská republika
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  • [4B8CBC3E55E9]
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  • Haematologica
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http://linked.open...v/svazekPeriodika
  • 87
http://linked.open...iv/tvurceVysledku
  • Pospíšilová, D.
  • Čmejla, Radek
  • Čmejlová, Jana
issn
  • 0390-6078
number of pages
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