|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
The hematopoietic defect of Diamond-Blackfan anemia (DBA) results in selective failure of erythropoiesis.
|
9923439 |
1999 |
|
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 |
Biomarker
|
disease |
BEFREE |
We present the cytogenetic pattern of a leukemic infant with Diamond-Blackfan anemia (DBA).
|
1423230 |
1992 |
|
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 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a congenital pure red blood cell aplasia diagnosed in the first year of life.
|
9009445 |
1997 |
|
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 |
Biomarker
|
disease |
BEFREE |
To define further the natural history of treated Diamond-Blackfan anemia (DBA), a congenital anemia characterized by a paucity of erythroid precursors, we analyzed 76 patients diagnosed or followed at Children's Hospital, Boston, between 1931 and 1992.
|
8606629 |
1996 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy.
|
30524470 |
2018 |
|
Anemia, Diamond-Blackfan
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.
|
11112378 |
2000 |
|
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 |
Biomarker
|
disease |
BEFREE |
We suggest that the binding of RPS19 to its mRNA has a regulatory function and hypothesize that the weaker RNA binding of mutant rRPS19 may have implications for the pathophysiological mechanisms in DBA.
|
20395159 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
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 |
Biomarker
|
disease |
BEFREE |
We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery.
|
28801981 |
2018 |
|
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 |
Biomarker
|
disease |
BEFREE |
The RPS19-deficient zebrafish will provide a valuable tool for investigating the molecular mechanisms of DBA development in humans.
|
18653748 |
2008 |
|
Anemia, Diamond-Blackfan
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, we also observed enhanced FLVCR1 alternative splicing and a dramatic reduction of FLVCR1 protein expression in RPS19 down-regulated human K562 cells, which were used as a model to represent RPS19 gene mutated Diamond-Blackfan anemia.
|
18815190 |
2008 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
RPS19 is the only gene yet to have been associated with DBA, but its relevance to erythroid differentiation is unclear.
|
15755903 |
2005 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
LHGDN |
To elucidate molecular mechanisms in RPS19-deficient DBA, we analyzed the effects of RPS19 deficiency on erythropoietin (EPO)-induced signal transduction, cell cycle, and apoptosis in RPS19-deficient TF-1 cells.
|
17962699 |
2008 |
|
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 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a bone marrow failure syndrome caused by mutations in ribosomal protein genes.
|
30784369 |
2019 |
|
Anemia, Diamond-Blackfan
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Finally in cell lines from DBA patients with mutations we find increased levels of 21S rRNA precursors but no abnormality in the ribosome profile on sucrose gradients or in the steady-state levels of RPS19 suggesting that some cells can partially compensate for the loss of one allele of RPS19.
|
17376718 |
2007 |