Transcription factor GATA-4 is not mutated in patients with Diamond-Blackfan anemia.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F02%3A00000115" target="_blank" >RIV/00023736:_____/02:00000115 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Transcription factor GATA-4 is not mutated in patients with Diamond-Blackfan anemia.
Original language description
The critical regions responsible for the pathogenesis of DBA have been mapped to chromosomes 19q13.2 and 8p23, and the gene encoding ribosomal protein S19 from 19q locus has been found mutated in 25% of DBA patients. However, nothing is known about the factor responsible for DBA from the 8p23 locus. Transcription factor GATA-4 located at this region was hypothesized to be the candidate gene. Based on our results, however, we conclude that the spatial pattern of its expression and absence of mutations inGATA-4 gene in DBA patients do not support its role in normal erythropoiesis or in DBA development.
Czech name
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Czech description
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Classification
Type
D - Article in proceedings
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
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)
Others
Publication year
2002
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Article name in the collection
XIII. český a slovenský hematologický a transfuziologický kongres s mezinárodní účastí.
ISBN
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ISSN
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e-ISSN
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Number of pages
1
Pages from-to
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Publisher name
Agentura Carolina
Place of publication
Praha
Event location
Praha
Event date
Jan 1, 2002
Type of event by nationality
EUR - Evropská akce
UT code for WoS article
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