|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ribosomal protein S19 (RPS19) is mutated in patients with Diamond-Blackfan anemia (DBA).
|
19454283 |
2009 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As RP mutations are yet to be identified in approximately 50% of DBA cases, it is likely that other yet to be identified genes involved in ribosomal biogenesis or other pathways may be responsible for DBA phenotype.
|
20655265 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ribosomal protein S19 (RPS19) have been identified in 25% of DBA patients.
|
20358230 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found that p53 accumulates selectively in the erythroid lineage in primary human hematopoietic progenitor cells after expression of shRNAs targeting RPS14, the ribosomal protein gene deleted in the 5q-syndrome, or RPS19, the most commonly mutated gene in DBA.
|
21068437 |
2011 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients.
|
21435509 |
2011 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Twenty-four patients with DADA2 were included: 14 with polyarteritis nodosa (PAN)-like phenotype (Group 1); 9 with Diamond-Blackfan anemia (DBA)-like features, and 1 with immunodeficiency (Group 2).
|
31043544 |
2020 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An underlying genetic defect was identified in 26 of 43 patients (60.5%), the majority of which were found in the RPS19 gene (12 of 43, 27.9%) with 1 patient carrying a mutation in a novel DBA candidate gene, RPL9.
|
29114930 |
2018 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It is shown that patients with RPS19 mutations display a poorer response to steroids and a worse long-term prognosis compared to other DBA patients.
|
18412286 |
2008 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The gene encoding the ribosomal protein S19 (RPS19) is frequently mutated in Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia.
|
17053056 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We also report the prevalence of RPS 19 mutations in the Italian DBA population, as shown by an analysis of 56 patients.
|
11112378 |
2000 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network.
|
29745857 |
2018 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The present findings enable us to document the nucleolar localization signals in RPS19 and help define the phenotypic consequences of some mutations in RPS19 in DBA.
|
12586610 |
2003 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It has been proven that defects of ribosomal proteins can lead to this disease and that RPS19 is the most frequently mutated gene in DBA patients.
|
23990987 |
2013 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Possible models of the DBA pathogenesis in the view of RPS19 mutations are discussed.
|
10753603 |
2000 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
More than a decade has passed since the initial identification of ribosomal protein gene mutations in patients with Diamond-Blackfan anemia (DBA), a hematologic disorder that became the founding member of a class of diseases known as ribosomopathies.
|
23863123 |
2014 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In order to analyse the consequences of the missense mutation of RPS19 specific for DBA patients, we made mutated RPS19 expression vectors.
|
18217898 |
2008 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our aim is to develop gene therapy for DBA patients with mutations in RPS19.
|
18715690 |
2008 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Analysis of these intermediates in CD34- cells from the bone marrow of patients with DBA harboring mutations in RPS19 revealed a pre-rRNA-processing defect similar to that observed in TF-1 cells where RPS19 expression was reduced.
|
16990592 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our findings indicate that NMD and nonstop decay affect the expression of mutated RPS19 genes; this may help to clarify genotype-phenotype correlations in DBA.
|
15523650 |
2004 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Herein, we describe a female infant with multiple midline defects associated with DBA and reaffirm the absence of RPS-19 mutations in DBA patients with facial anomalies.
|
17483715 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Linkage analysis supported allelism for TEC and DBA at the RPS19 gene locus and implies molecular mechanisms other than structural mutations in the RPS19 gene.
|
12358933 |
2002 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To determine the prevalence of mutations in this gene in DBA and to begin to define the molecular basis for the observed variable clinical phenotype of this disorder, the genomic sequence of the 6 exons and the 5' untranslated region of the RPS19 gene was directly assessed in DBA index cases from 172 new families.
|
10590074 |
1999 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A genetic analysis revealed heterozygous mutation of RPS19; therefore, he was diagnosed as having DBA with CDH.
|
31574871 |
2019 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Within the decade following the demonstration that mutations in the RPS19 gene can lead to Diamond-Blackfan anemia (DBA), this disease has become a paradigm for an emerging group of pathologies linked to defects in ribosome biogenesis.
|
21435505 |
2011 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
There are, however, other cases of DBA that are linked neither to the RPS19 gene nor to the locus on 8p, implying the involvement of yet-to-be-defined genetic defects in the cause of DBA.
|
11176237 |
2001 |