GEO DataSets

(Submitter supplied) We performed genome-wide expression profiling of cells infected with control or RPS14 shRNAs. Keywords: controls vs. shRNA treated

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL3921

24 Samples

Download data: CEL, EXP

(Submitter supplied) 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 have been identified in multiple unrelated families, along with rarer abnormalities of additional ribosomal proteins. more...

Organism:

Homo sapiens

Type:

SNP genotyping by SNP array; Expression profiling by array

4 related Platforms

14 Samples

Download data: CEL, TXT

(Submitter supplied) Ribosomopathies are cell-type-specific pathologies related to a ribosomal protein (RP) gene insult. The 5q- syndrome is a somatic ribosomopathy linked to RPS14 gene haploinsufficiency and characterized by a prominent erythroid hypoplasia. Using quantitative proteomic, we show that GATA1 protein expression is low in shRPS14 cells in which ribosome quantities are diminished. Here, we investigated the cause of low GATA1 protein expression in limiting ribosome availability. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL24299

6 Samples

Download data: CEL, TXT

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL24299

21 Samples

Download data: CEL

(Submitter supplied) 5q- syndrome is a somatic ribosomopathy linked to the monoallelic deletion of the RPS14 gene and characterized by a proeminent erythroid phenotype. The mechanism of anemia involves an impaired differentiation and increased apoptosis of erythroblasts. Here we show that GATA1 protein expression is low in line with a defect in the representation of its mRNA at the ribosome. A global analysis of transcripts on polysomes indicates that translation is selective with a decreased representation of the transcripts with a short coding sequence and UTRs and a highly structured 3’UTR, a subset of transcripts that includes GATA1. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL24299

6 Samples

Download data: CEL

(Submitter supplied) 5q- syndrome is a somatic ribosomopathy linked to the monoallelic deletion of the RPS14 gene and characterized by a proeminent erythroid phenotype. The mechanism of anemia involves an impaired differentiation and increased apoptosis of erythroblasts. Here we show that GATA1 protein expression is low in line with a defect in the representation of its mRNA at the ribosome. A global analysis of transcripts on polysomes indicates that translation is selective with a decreased representation of the transcripts with a short coding sequence and UTRs and a highly structured 3’UTR, a subset of transcripts that includes GATA1. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL24299

9 Samples

Download data: CEL

(Submitter supplied) Transcriptional profiling of ProEs purified from wild type and Bmi1-/- mice.

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL7042

3 Samples

Download data: TXT

(Submitter supplied) Transcriptional profiling of MEPs purified from wild type and Bmi1-/- mice.

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL7042

3 Samples

Download data: TXT

(Submitter supplied) Ribosomal protein haploinsufficiency (RPH) underlies diverse human diseases with distinct and specific phenotypes, including Diamond-Blackfan anemia (DBA). Although multiple mechanisms have been proposed for the erythroid-specific hematopoietic defects observed in DBA, only recently has the role of selectively impaired translation been highlighted in these phenotypes. Exactly how and to what extent this impairment of translation occurs is currently unknown. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing; Other

Platform:

GPL16791

14 Samples

Download data: TXT

(Submitter supplied) Diamond-Blackfan anemia (DBA) is characterized by anemia and cancer susceptibility, and is caused by mutations in ribosomal genes, including Rpl11. Here, we report that Rpl11-heterozygous embryos are not viable, and homozygous deletion of Rpl11 in adult mice results in death within a few weeks, accompanied by bone marrow aplasia and intestinal atrophy. Importantly, deletion of a single Rpl11 allele in adult mice results in anemia associated to decreased erythroid progenitors and defective erythroid maturation. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL13112

8 Samples

Download data: TXT

(Submitter supplied) The Affymetrix Human Gene 2.0 ST array was used to measure differential expression of RNA isolated from normal and Diamond Blackfan anemia (DBA) erythroid progenitors after ex vivo expansion of circulating, peripheral blood derived hematopoietic stem cells under erythroid growth conditions. The gene-level probe summaries reported in this series were computed using RMA as implemented in the Bioconductor package Oligo v1.36.1. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL16686

37 Samples

Download data: CEL

(Submitter supplied) Ineffective erythropoiesis, the death of maturing erythroid cells, is a common cause of anemia. To better understand why this occurs, we studied the fates and adaptations of single erythroid marrow cells from individuals with Diamond Blackfan anemia (DBA), del(5q) myelodysplastic syndrome (del(5q) MDS), and normal controls, and defined an unhealthy (vs. healthy) differentiation trajectory, using velocity pseudotime and cell surface protein assessment. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing; Other

Platform:

GPL21697

37 Samples

Download data: H5AD

(Submitter supplied) 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 have been identified in multiple unrelated families, along with rarer abnormalities of additional ribosomal proteins. more...

Organism:

Homo sapiens

Type:

Genome variation profiling by SNP array; Genome variation profiling by genome tiling array

Platforms:

GPL14190 GPL13135 GPL8882

74 Samples

Download data: PAIR, TXT