The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal protein mutations update

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A7989" target="_blank" >RIV/00064203:_____/12:7989 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/12:7989 RIV/65269705:_____/12:#0001653 RIV/00179906:_____/12:10124858 RIV/00023736:_____/12:00009618 RIV/00669806:_____/12:10124858

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.bcmd.2012.02.002" target="_blank" >http://dx.doi.org/10.1016/j.bcmd.2012.02.002</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal protein mutations update

Popis výsledku v původním jazyce

Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome diagnosed in early infancy that is characterized by a (a) macrocytic anemia with no other significant cytopenia, (b) reticulocytopenia, and (c) normal bone marrow cellularity with apaucity of erythroid precursors. Physical anomalies are often present. Mutations in several ribosomal proteins have been associated with the disease. Here we present a detailed description of 39 patients from 34 families enrolled in the Czech National Diamond-Blackfan Anemia Registry. Erythrocyte adenosine deaminase activity and serum erythropoietin levels were measured and bone marrow analysis and clonogenic assays were carried out. Twenty-two different ribosomal proteins were sequenced. We identifiedmutations in five different ribosomal proteins in 28/39 patients (71.8%) from 23/34 families (67.6%). Several new mutations are described. The most interesting data relate to genotype-phenotype correlations. All patients with ribosomal p

Název v anglickém jazyce

The Czech National Diamond-Blackfan Anemia Registry: Clinical data and ribosomal protein mutations update

Popis výsledku anglicky

Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome diagnosed in early infancy that is characterized by a (a) macrocytic anemia with no other significant cytopenia, (b) reticulocytopenia, and (c) normal bone marrow cellularity with apaucity of erythroid precursors. Physical anomalies are often present. Mutations in several ribosomal proteins have been associated with the disease. Here we present a detailed description of 39 patients from 34 families enrolled in the Czech National Diamond-Blackfan Anemia Registry. Erythrocyte adenosine deaminase activity and serum erythropoietin levels were measured and bone marrow analysis and clonogenic assays were carried out. Twenty-two different ribosomal proteins were sequenced. We identifiedmutations in five different ribosomal proteins in 28/39 patients (71.8%) from 23/34 families (67.6%). Several new mutations are described. The most interesting data relate to genotype-phenotype correlations. All patients with ribosomal p

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

<a href="/cs/project/NT11059" target="_blank" >NT11059: Diamondova-Blackfanova anémie: molekulárně-genetická analýza etiopatogenetických faktorů, zhodnocení jejich vlivu na prognózu a léčbu onemocnění.</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2012

Kód důvěrnosti údajů

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

Název periodika

Blood Cells Molecules and Diseases

ISSN

1079-9796

e-ISSN

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Svazek periodika

48

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

10

Strana od-do

209-218

Kód UT WoS článku

000302333800002

EID výsledku v databázi Scopus

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