About: Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1111/bjh.12134
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). 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). (en)
Title	Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia (en)
skos:prefLabel	Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia (en)
skos:notation	RIV/00216208:11130/13:10196758!RIV14-MSM-11130___
http://linked.open...avai/predkladatel	2. lékařská fakulta
http://linked.open...avai/riv/aktivita	I
http://linked.open...avai/riv/aktivity	I
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Trka, Jan
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	59243
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/13:10196758
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	mutation analysis; SBDS; acute myeloid leukaemia (en)
http://linked.open.../riv/klicoveSlovo	SBDS acute myeloid leukaemia mutation analysis
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[C28BE8144023]
http://linked.open...i/riv/nazevZdroje	British Journal of Haematology
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	15 (xsd:int)
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	160
http://linked.open...iv/tvurceVysledku	Trka, Jan Aalbers, Anna M. Baruchel, Andre Calado, Rodrigo T. Geleijns, Karin Kajigaya, Sachiko Kaspers, Gertjan J. L. Kuijpers, Taco W. Pieters, Rob Reinhardt, Dirk Young, Neal S. Zwaan, C. Michel de Haas, Valerie van den Heuvel-Eibrink, Marry M. van der Velden, Vincent H. J.
http://linked.open...ain/vavai/riv/wos	000314068100018
issn	0007-1048
number of pages	3 (xsd:int)
http://bibframe.org/vocab/doi	10.1111/bjh.12134
http://localhost/t...ganizacniJednotka	11130

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