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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan Anemia (DBA) is a rare inherited form of pure red cell aplasia that usually manifests in infancy or early childhood, and is characterized by normochromic macrocytic anemia and bone marrow erythroblastopenia.
|
30933022 |
2019 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in GATA1, which lead to expression of the GATA1s isoform that lacks the GATA1 N terminus, are seen in patients with Diamond-Blackfan anemia (DBA).
|
31409672 |
2019 |
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 |
Biomarker
|
disease |
BEFREE |
Four cases were diagnosed with red cell membrane protein defects, four patients were diagnosed with pyruvate kinase deficiency, one case of adenylate kinase deficiency, one case of glucose phosphate isomerase deficiency, one case of hereditary xerocytosis, three cases having combined membrane and enzyme defect, two cases with Diamond-Blackfan anemia (DBA) and 1 with CDA type II with 26 different mutations, of which 21 are novel.
|
31401766 |
2019 |
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, as excessive heme could amplify ribosomal protein imbalance, prematurely lower GATA1, and impede mitosis, these data may help explain the ineffective (early termination of) erythropoiesis in Diamond Blackfan anemia and del(5q) myelodysplasia, disorders with excessive heme in colony-forming unit-erythroid/proerythroblasts, explain why these anemias are macrocytic, and show why children with GATA1 mutations have DBA-like clinical phenotypes.
|
30530752 |
2019 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
TGFb family member activin was also upregulated in RP-deficient zebrafish and in RPS19-deficient human cells, which include a lymphoid cell line from a DBA patient, and fetal liver cells and K562 cells transduced with RPS19 shRNA.
|
29581525 |
2018 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our group recently characterized the phenotype of lymphoblastoid cell lines established from DBA patients with pathogenic lesions in RPS19 and observed that defective pre-rRNA processing, a hallmark of the disease, was rescued by lentiviral vectors expressing wild-type RPS19.
|
29766597 |
2018 |
Anemia, Diamond-Blackfan
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The RPS19 mutation group was associated with higher requirement for chronic treatment for anemia than other DBA groups.
|
29044489 |
2018 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hazard ratios for these lectins were (+1 SD for the glycan index) as follows: SNA (recognizing glycan Siaα2-6Gal/GalNAc), 1.42 (95% CI 1.14-1.76); RCA120 (Galβ4GlcNAc), 1.28 (1.01-1.64); DBA (GalNAcα3GalNAc), 0.80 (0.64-0.997); ABA (Galβ3GalNAc), 1.29 (1.02-1.64); Jacalin (Galβ3GalNAc), 1.30 (1.02-1.67); and ACA (Galβ3GalNAc), 1.32 (1.04-1.67).
|
29930140 |
2018 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome that exhibits an erythroid-specific phenotype.
|
29296843 |
2017 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene defects responsible for the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA).
|
29222326 |
2017 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our results collectively demonstrate the feasibility to cure RPS19-deficient Diamond-Blackfan anemia using lentiviral vectors with cellular promoters that possess a reduced risk of insertional mutagenesis.
|
28434866 |
2017 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
By whole exome sequencing, we unraveled the presence of pathogenic variants affecting genes already known to be involved in DBA pathogenesis (RPL5 and RPS19) in three patients with otherwise uncertain clinical diagnosis, and provided new insights on DBA genotype-phenotype correlations.
|
28376382 |
2017 |
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 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 |
Biomarker
|
disease |
BEFREE |
Ribosomal biology defects are the primary causes of Diamond Blackfan anemia (DBA) and Shwachman Diamond syndrome (SDS).
|
28637614 |
2017 |
Anemia, Diamond-Blackfan
|
0.700 |
Biomarker
|
disease |
BEFREE |
This type of a mutation could be very helpful in further understanding the role of the RPS19 protein in DBA pathogenesis.
|
27732904 |
2016 |