Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F13%3A10196758" target="_blank" >RIV/00064203:_____/13:10196758 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/13:10196758
Result on the web
<a href="http://dx.doi.org/10.1111/bjh.12134" target="_blank" >http://dx.doi.org/10.1111/bjh.12134</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/bjh.12134" target="_blank" >10.1111/bjh.12134</a>

Result language
angličtina
Original language name
Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia
Original language description
Shwachman-Diamond syndrome (SDS, On-line Mendelian Inheritance in Man (OMIM) #260400) is an autosomal recessive condition, characterized by pancreatic exocrine insufficiency, skeletal abnormalities, bone marrow failure, and an increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML), the latter occurring in 19-36% of patients (Shimamura, 2006). Compound heterozygous mutations in SBDS are identified in the majority of SDS patients. Of the two most frequently found mutations in SBDS, 183-184TA>CT and 258+2T>C, at least one is present in approximately 90% of affected individuals. These mutations are located in exon 2, and result from gene conversion with SBDSP1, the SBDS pseudogene (Boocock et al, 2003). Although its exact function remains unclear, the SBDS protein appears to have a role in ribosome maturation, and might have additional extraribosomal functions (Finch et al, 2011; Johnson & Ellis 2011).
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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