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TranscriptomicsDefective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.
Transcriptome profile of highly purified multipotential (P), erythroid (E), and myeloid (M) bone marrow progenitors from three RPS19 mutated Diamond-Blackfan anemia and six control human subjects. Two group comparison of sex and age matched subjects. Bone marrow progenitors, gene expression profilin...
ORGANISM(S): Homo sapiens 
2012-10-16 | E-GEOD-41599 | biostudies-arrayexpress
TranscriptomicsRibosomal Protein Gene Deletions in Diamond Blackfan Anemia
Diamond Blackfan anemia is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, often with associated physical abnormalities. Perturbations of the ribosome appear critically important to the development of DBA, as alterations in 9 different ribosomal protein genes ha...
ORGANISM(S): Homo sapiens 
2012-01-15 | E-GEOD-31575 | biostudies-arrayexpress
TranscriptomicsRibosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts
Diamond Blackfan Anemia (DBA) is associated with developmental defects and profound anemia. Mutations in genes encoding a ribosomal protein of the small (e.g. Rps19) or large (e.g. Rpl11) ribosomal subunit are found in over half of these patients. The mutations cause ribosomal haploinsufficiency, ...
ORGANISM(S): Mus musculus 
2011-11-14 | E-GEOD-22903 | biostudies-arrayexpress
TranscriptomicsSystematic Transcriptome Analysis of Zebrafish Model of Diamond-Blackfan Anemia from RPS24 Deficiency (mRNA-Seq)
In this study, we found RPS24 is required for both the primitive hematopoiesis and definitive hematopoiesis process partly mediated by P53 pathway. With the RNA-seq and miRNA-seq technique, several deregulated genes and miRNAs were found to be related with hematopoiesis, vascular development and apo...
ORGANISM(S): Danio rerio 
2015-05-18 | E-GEOD-54152 | biostudies-arrayexpress
TranscriptomicsSystematic Transcriptome Analysis of Zebrafish Model of Diamond-Blackfan Anemia from RPS24 Deficiency (miRNA-Seq)
In this study, we found RPS24 is required for both the primitive hematopoiesis and definitive hematopoiesis process partly mediated by P53 pathway. With the RNA-seq and miRNA-seq technique, several deregulated genes and miRNAs were found to be related with hematopoiesis, vascular development and apo...
ORGANISM(S): Danio rerio 
2015-05-18 | E-GEOD-54259 | biostudies-arrayexpress
Transcriptomics5q- Myelodysplastic Syndrome Masquerading as Diamond Blackfan Anemia
Diamond Blackfan anemia is a congenital bone marrow failure syndrome characterized by hypoproliferative anemia, often with associated physical abnormalities. Perturbations of the ribosome appear critically important to the development of DBA, as alterations in 9 different ribosomal protein genes ha...
ORGANISM(S): Homo sapiens 
2013-11-05 | E-GEOD-42570 | biostudies-arrayexpress
TranscriptomicsGene expression analysis from erythroid progenitors of patients with Diamond-Blackfan anemia
Gene expression analysis from erythroid progenitors (CD34+/CD71(high)/CD45- mononuclear cells from the bone marrow) of patients with Diamond-Blackfan anemia (due to RPS19 mutations) and control individuals. Case-control microarray gene expression analysis
ORGANISM(S): Homo sapiens 
2014-02-28 | E-GEOD-41817 | biostudies-arrayexpress
TranscriptomicsTranscriptome analysis of the Zebrafish model of Diamond-Blackfan Anemia from RPS19 deficiency via p53-dependent and -independent pathways
To determine the effect on the whole transcriptome of RPS19 morpholino and to identify the function of p53 in RPS19-deficient embryos, we analyzed the genome-wide transcript profiles of control morpholino (control), RPS19 morpholino knockdown (RPS19 MO), and RPS19 and p53 morpholino knockdown simult...
ORGANISM(S): Danio rerio 
2013-10-09 | E-GEOD-45699 | biostudies-arrayexpress
TranscriptomicsSystematic Transcriptome Analysis of Zebrafish Model of Diamond-Blackfan Anemia from RPS24 Deficiency
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
ORGANISM(S): Danio rerio 
2015-05-18 | E-GEOD-54270 | biostudies-arrayexpress
ProteomicsBRAF inhibitors enhance erythropoiesis and treat anemia through paradoxical activation of MAPK
Erythropoiesis is a crucial part in hematopoietic system, while facing disruptions from various diseases conditions. Anemia and blood shortages has become global challenges, with current finite pharmacological options like EPO or glucocorticoids having limitations, especially in genetic anemias like...
ORGANISM(S): Homo Sapiens 
PXD055730 |
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