About: Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.

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About: Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. Apart from defects in red blood cell maturation, the disorder is also associated with various physical anomalies in 40% of patients. Mutations in the ribosomal protein (RP) S19 are found in 25% of patients, while mutations in other proteins of the small ribosomal subunit--RPS17 and RPS24--have been found in a fraction of patients. Recently, mutations in RPL5, RPL11, and RPL35a of the large ribosomal subunit have also been reported in several DBA patients. Here, we present the identification of mutations in the RPL5 and RPL11 genes in patients from the Czech DBA Registry. Mutations in RPL5 were identified in eight patients from 6 out of 28 families (21.4%), and mutations in RPL11 in two patients from 2 out of 28 families (7.1%). Interestingly, all 10 patients with either an RPL5 or RPL11 mutation exhibited one or more physical anomalies; specifically, thumb anomalies (flat thenar) were a Diamond-Blackfan anemia (DBA) is a congenital red blood cell aplasia that is usually diagnosed during early infancy. Apart from defects in red blood cell maturation, the disorder is also associated with various physical anomalies in 40% of patients. Mutations in the ribosomal protein (RP) S19 are found in 25% of patients, while mutations in other proteins of the small ribosomal subunit--RPS17 and RPS24--have been found in a fraction of patients. Recently, mutations in RPL5, RPL11, and RPL35a of the large ribosomal subunit have also been reported in several DBA patients. Here, we present the identification of mutations in the RPL5 and RPL11 genes in patients from the Czech DBA Registry. Mutations in RPL5 were identified in eight patients from 6 out of 28 families (21.4%), and mutations in RPL11 in two patients from 2 out of 28 families (7.1%). Interestingly, all 10 patients with either an RPL5 or RPL11 mutation exhibited one or more physical anomalies; specifically, thumb anomalies (flat thenar) were a (en)
Title	Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. (en)
skos:prefLabel	Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. (en)
skos:notation	RIV/61989592:15110/09:00009637!RIV10-MSM-15110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(LC06044), Z(MSM6198959205), Z(MZ00237360001), Z(MZ0UHKT2005)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Pospíšilová, Dagmar Mihál, Vladimír
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 Palackého v Olomouci / Lékařská fakulta
http://linked.open...dnocenehoVysledku	318354
http://linked.open...ai/riv/idVysledku	RIV/61989592:15110/09:00009637
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	ribosomal protein L5; RPL5; ribosomal protein L11; RPL11; ribosomal protein L23; RPL23; Diamond-Blackfan anemia; DBA (en)
http://linked.open.../riv/klicoveSlovo	DBA Diamond-Blackfan anemia RPL11 RPL23 RPL5 ribosomal protein L11 ribosomal protein L23 ribosomal protein L5
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[A146CB74B13B]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Center for Experimental Hematology
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	30
http://linked.open...iv/tvurceVysledku	Mihál, Vladimír Pospíšilová, Dagmar Petrák, J. Starý, J. Černá, Z. Čmejla, Radek Petrtýlová, K. Čmejlová, Jana Handrková, H. Yabali, J.
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. Pathophysiology,diagnosis, and treatment of blood malignancies and blood coagulation disorders
issn	1059-7794
number of pages	7 (xsd:int)
http://localhost/t...ganizacniJednotka	15110
is http://linked.open...avai/riv/vysledek of	Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.

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