Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/13:10196758

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia

Popis výsledku v původním jazyce

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).

Název v anglickém jazyce

Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia

Popis výsledku anglicky

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).

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

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Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

British Journal of Haematology

ISSN

0007-1048

e-ISSN

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Svazek periodika

160

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

3

Strana od-do

559-561

Kód UT WoS článku

000314068100018

EID výsledku v databázi Scopus

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