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Statements

Subject Item
n2:RIV%2F00023736%3A_____%2F02%3A00000114%21RIV%2F2003%2FMZ0%2FL33003%2FN
rdf:type
skos:Concept n14:Vysledek
dcterms:description
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.
dcterms:title
Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia. Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia.
skos:prefLabel
Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia. Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia.
skos:notation
RIV/00023736:_____/02:00000114!RIV/2003/MZ0/L33003/N
n4:strany
ELT30
n4:aktivita
n6:P
n4:aktivity
P(NE6689)
n4:cisloPeriodika
7
n4:dodaniDat
n11:2003
n4:domaciTvurceVysledku
n7:3453642 n7:7033877
n4:druhVysledku
n16:J
n4:duvernostUdaju
n9:S
n4:entitaPredkladatele
n17:predkladatel
n4:idSjednocenehoVysledku
667217
n4:idVysledku
RIV/00023736:_____/02:00000114
n4:jazykVysledku
n15:eng
n4:klicovaSlova
Diamond-Blackfan anaemia; transcription factor GATA-4; 8p23 locus; congenital heart defects
n4:klicoveSlovo
n5:transcription%20factor%20GATA-4 n5:Diamond-Blackfan%20anaemia n5:8p23%20locus n5:congenital%20heart%20defects
n4:kodStatuVydavatele
IT - Italská republika
n4:kontrolniKodProRIV
[4B8CBC3E55E9]
n4:nazevZdroje
Haematologica
n4:obor
n8:FD
n4:pocetDomacichTvurcuVysledku
2
n4:pocetTvurcuVysledku
3
n4:pocetUcastnikuAkce
0
n4:pocetZahranicnichUcastnikuAkce
0
n4:projekt
n10:NE6689
n4:rokUplatneniVysledku
n11:2002
n4:svazekPeriodika
87
n4:tvurceVysledku
Čmejlová, Jana Čmejla, Radek Pospíšilová, D.
s:issn
0390-6078
s:numberOfPages
1