|
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 |
With the aim of analyzing the functional features of mutated RPS19, we prepared cDNA constructs expressing RPS19 containing 11 missense mutations and a trinucleotide insertion found in DBA patients.
|
17517689 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
With the aim of analyzing the functional features of mutated RPS19, we prepared cDNA constructs expressing RPS19 containing 11 missense mutations and a trinucleotide insertion found in DBA patients.
|
17517689 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
While this is usually mild and self-limited, some patients demonstrate a severe, persistent anemia resembling that seen in Diamond-Blackfan anemia (DBA).
|
16097009 |
2005 |
|
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 |
BEFREE |
We screened 49 Japanese patients with Diamond-Blackfan anemia (45 probands) for mutations in the six known genes associated with Diamond-Blackfan anemia: RPS19, RPS24, RPS17, RPL5, RPL11, and RPL35A.
|
20378560 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
LHGDN |
We review here the known roles of RPS19 in both ribosome construction and other extra-ribosomal functions and discuss their relationship to Diamond-Blackfan anemia.
|
17178250 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
We review here the known roles of RPS19 in both ribosome construction and other extra-ribosomal functions and discuss their relationship to Diamond-Blackfan anemia.
|
17178250 |
2007 |
|
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 |
Biomarker
|
disease |
BEFREE |
We report on maternal first cousins with bilateral microtia, micrognathia, cleft palate and hematologic findings of Diamond-Blackfan anemia (DBA).
|
11424144 |
2001 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation.
|
10450869 |
1999 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center.
|
28623394 |
2017 |
|
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 |
Biomarker
|
disease |
BEFREE |
We have modeled DBA and del(5q) MDS in zebrafish using antisense morpholinos to rps19 and rps14, respectively, and have demonstrated that, as in humans, haploinsufficient levels of these proteins lead to a profound anemia.
|
22734070 |
2012 |
|
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found two distinct classes of RPS19 protein defects in Diamond-Blackfan anemia based on the stability of the mutant proteins: (i) slightly decreased to normal levels of expression and normal nucleolar localization and (ii) markedly deficient expression and failure to localize to the nucleolus.
|
18768533 |
2008 |
|
Anemia, Diamond-Blackfan
|
0.700 |
AlteredExpression
|
disease |
LHGDN |
We found two distinct classes of RPS19 protein defects in Diamond-Blackfan anemia based on the stability of the mutant proteins: (i) slightly decreased to normal levels of expression and normal nucleolar localization and (ii) markedly deficient expression and failure to localize to the nucleolus.
|
18768533 |
2008 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found that the level of translation was on average 48-73% of controls in both unstimulated and PHA-activated DBA lymphocytes irrespective of mutations in RPS19.
|
17082006 |
2006 |
|
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 |
We describe a novel approach to separate two ribosome populations from the same cells and use this method in combination with RNA-seq to identify mRNAs bound to Saccharomyces cerevisiae ribosomes with and without Rps26, a protein linked to the pathogenesis of Diamond-Blackfan anemia (DBA).
|
28759050 |
2017 |
|
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 |
Variants in ribosomal protein (RP) genes drive Diamond-Blackfan anemia (DBA), a bone marrow failure syndrome that can also predispose individuals to cancer.
|
31799629 |
2020 |
|
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Using genome-wide single-nucleotide polymorphism array to evaluate for regions of recurrent copy variation, we identified deletions at known DBA-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A.
|
22045982 |
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 |
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 |
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 |