Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F02%3A00000114" target="_blank" >RIV/00023736:_____/02:00000114 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Transcription factor GATA-4 is not involved in Diamond-Blackfan anaemia.

Original language 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.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

<a href="/en/project/NE6689" target="_blank" >NE6689: Inherited disorders of hematopoessis</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2002

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Haematologica

ISSN

0390-6078

e-ISSN

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Volume of the periodical

87

Issue of the periodical within the volume

7

Country of publishing house

IT - ITALY

Number of pages

1

Pages from-to

"ELT30"

UT code for WoS article

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EID of the result in the Scopus database

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