About: The ribosomal basis of Diamond-Blackfan anemia : mutation and database update

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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)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. By means of a large collaboration among six centers, we report here a mutation update that includes nine genes and 220 distinct mutations, 56 of which are new. The DBA Mutation Database now includes data from 355 patients. All currently reported DBA mutations together with their functional and clinical data are included in the DBA Mutation Database. Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. By means of a large collaboration among six centers, we report here a mutation update that includes nine genes and 220 distinct mutations, 56 of which are new. The DBA Mutation Database now includes data from 355 patients. All currently reported DBA mutations together with their functional and clinical data are included in the DBA Mutation Database. (en)
Title	The ribosomal basis of Diamond-Blackfan anemia : mutation and database update The ribosomal basis of Diamond-Blackfan anemia : mutation and database update (en)
skos:prefLabel	The ribosomal basis of Diamond-Blackfan anemia : mutation and database update The ribosomal basis of Diamond-Blackfan anemia : mutation and database update (en)
skos:notation	RIV/00023736:_____/10:00008916!RIV11-MZ0-00023736
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM6198959205), Z(MZ0UHKT2005)
http://linked.open...iv/cisloPeriodika	12
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Čmejla, Radek
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	Ústav hematologie a krevní transfúze
http://linked.open...dnocenehoVysledku	285277
http://linked.open...ai/riv/idVysledku	RIV/00023736:_____/10:00008916
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Diamond-Blackfan anemia; ribosomal protein; erythropoiesis; ribosome biogenesis (en)
http://linked.open.../riv/klicoveSlovo	erythropoiesis ribosome biogenesis Diamond-Blackfan anemia ribosomal protein
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[AD093177B751]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	29 (xsd:int)
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	31
http://linked.open...iv/tvurceVysledku	Pospíšilová, D. Kartal, M. Čmejla, Radek Aspesi, A. Atsidaftos, E. Beggs, A. H. Boria, I. Buros, C. M. Clinton, C. M. Da Costa, L. Dahl, N. Dianzani, I. Dobson, L. J. Ellis, S. R. Ferrante, D. Fröjmark, A.-S. Garelli, E. Gazda, H. T. Landowski, M. Leblanc, T. Lipton, J. M. Meerpohl, J. J. Pavesi, E. Proust, A. Quarello, P. Ramenghi, U. Sheen, M. R. Simansour, M. Vlachos, A.
http://linked.open...ain/vavai/riv/wos	000285252900004
http://linked.open...n/vavai/riv/zamer	Studies of genes and molecular mechanisms involved in regulation of hematopoiesis, their clinical impact and targeted treatment Význam molekulárně biologických vyšetření pro objasnění patogeneze a pro diagnostiku poruch krvetvorby a využití krvetvorné buňky v léčbě onemocnění krvetvorby a jiných tkání.
issn	1059-7794
number of pages	11 (xsd:int)
is http://linked.open...avai/riv/vysledek of	The ribosomal basis of Diamond-Blackfan anemia : mutation and database update The ribosomal basis of Diamond-Blackfan anemia : mutation and database update The ribosomal basis of Diamond-Blackfan anemia : mutation and database update

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