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accession-icon GSE35007
The genomic architecture of sickle cell disease in children from West Africa
  • organism-icon Homo sapiens
  • sample-icon 311 Downloadable Samples
  • Technology Badge IconIllumina HumanHT-12 V4.0 expression beadchip

Description

Sickle cell disease (SCD) is caused by a pathogenic hemoglobin (Hb) mutation, yet patients can have dramatically variable clinical manifestations. Here we address the genetic basis of this clinical heterogeneity. Using a systems genetics approach, we performed whole blood gene expression analysis and eQTL analysis on different clinical phenotypes in SCD patients.

Publication Title

Genomic architecture of sickle cell disease in West African children.

Sample Metadata Fields

Sex, Age

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accession-icon GSE108983
Reprogramming of heterologous cells by defined factors to generate lineage-restricted biomolecules
  • organism-icon Mus musculus
  • sample-icon 8 Downloadable Samples
  • Technology Badge Icon Affymetrix Mouse Gene 1.0 ST Array (mogene10st)

Description

The ability of transcriptional regulators to drive lineage conversion of somatic cells offers great potential for the treatment of human disease. While current research in this field is focused on the generation of induced pluripotent stem cells or direct lineage transdifferentiation, less attention has been paid to the possibility of reprogramming cells to produce cytokines, growth factors and hormones. To explore the concept of switching on specific target genes in heterologous cells, we developed a model system to screen candidate factors for their ability to activate the archetypal megakaryocyte-specific chemokine platelet factor 4 (PF4) in fibroblasts. We found that co-expression of the transcriptional regulators GATA1 and FLI1 resulted in a significant increase in levels of PF4, which became magnified over time. We also determined that inclusion of a third factor, TAL1, further enhanced upregulation of PF4 expression. Our study therefore identified of TAL1 as an important component in the combination of transcriptional regulators that contribute to megakaryocyte programming, and demonstrated that such combinations can be used to produce potentially beneficial chemokines in readily available heterologous cell types.

Publication Title

Partial reprogramming of heterologous cells by defined factors to generate megakaryocyte lineage-restricted biomolecules.

Sample Metadata Fields

Time

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accession-icon SRP135973
Human iPSC-derived glomeruli provide an advanced model to interrogate podocyte biology and accurately recapitulate podocytopathy
  • organism-icon Homo sapiens
  • sample-icon 15 Downloadable Samples
  • Technology Badge IconNextSeq 500

Description

Podocytes are highly specialised cells within the glomeruli of the kidney that maintain the filtration barrier by forming interdigitating foot processes and slit-diaphragms. Disruption to these features result in proteinuria and glomerulosclerosis. Studies into podocyte biology and disease have previously relied on conditionally immortalised cell lines due to the non- proliferative nature of this cell type. Here we describe an advanced model to study both podocyte and glomerular biology using isolated glomeruli from kidney organoids derived from human pluripotent stem cells. Overall design: Gene expression profiling of day three 17, 21 and 26 day kidney organoid derived glomeruli respectively with heterzygous genotype for BFP tagged MAFB; gene expression profiling of three day 25 kidney organoid derived glomeruli; gene expression profiling of three organoid-derived podocytes grown out for 3 days from day 25 kidney organoid derived glomeruli.

Publication Title

3D organoid-derived human glomeruli for personalised podocyte disease modelling and drug screening.

Sample Metadata Fields

Specimen part, Subject

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accession-icon GSE26262
Pin1/mutant-p53 jointly controlled genes
  • organism-icon Homo sapiens
  • sample-icon 9 Downloadable Samples
  • Technology Badge Icon Affymetrix Human Genome U133A 2.0 Array (hgu133a2)

Description

To investigate the specific gene expression program by which mutant-p53 and Pin1 control invasion and metastasis in breast cancer cells, we compared the transcriptomic profile of control, mutant-p53 depleted or Pin1 depleted MDA-MB-231 cells.

Publication Title

A Pin1/mutant p53 axis promotes aggressiveness in breast cancer.

Sample Metadata Fields

Cell line

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accession-icon SRP064353
RNA-Seq data for AKT, BAD, ERBB2, IGF1R, RAF1 and ERK1 over-expressed samples with twelve green fluorescent protein control samples using human mammary epithelial cells
  • organism-icon Homo sapiens
  • sample-icon 46 Downloadable Samples
  • Technology Badge IconIlluminaHiSeq2000

Description

The goal was to capture the transcriptional activity due to over-expression of AKT, BAD, ERBB2, IGF1R, RAF1 and ERK1 genes.Over-expressions were validated using Western Blots. Illumina RNA-Seq technology was used to capture the downstream transcriptional activity. Reads were 101 base pairs long and single ended. An R open source package “Rsubread” was used to align and quantify the read using UCSC hg19 annotation. The integer-based gene counts were later normalized in TPM . Overall design: Profiles of gene expression, downstream of AKT, BAD, ERBB2, IGF1R, RAF1 and ERK over-expression, were generated in cells derived from breast and used to generate a gene-expression signatures.

Publication Title

Combating subclonal evolution of resistant cancer phenotypes.

Sample Metadata Fields

No sample metadata fields

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accession-icon SRP040244
Drosophila melanogaster Transcriptome or Gene expression
  • organism-icon Drosophila melanogaster
  • sample-icon 1 Downloadable Sample
  • Technology Badge IconIllumina HiSeq 2000

Description

RNA-seq from a cross between an isofemale line and the reference genotype for the purpose of measuring allele specific expression

Publication Title

Estimates of allele-specific expression in Drosophila with a single genome sequence and RNA-seq data.

Sample Metadata Fields

Sex, Specimen part, Cell line

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accession-icon GSE19275
Muscle gene expression patterns in pigs with divergent phenotypes for fatness traits
  • organism-icon Sus scrofa
  • sample-icon 67 Downloadable Samples
  • Technology Badge Icon Affymetrix Porcine Genome Array (porcine)

Description

Background: Marketing products with added-value characteristics is a current trend in livestock production systems. Regarding meat, selection for intramuscular fat and muscular fatty acid composition is a way to improve the palatability and juiciness of meat while assuring a healthy fat content. This represents selecting animal with a different muscular metabolic profile with respect to the extended selection of lean animals. Results: The present study has analysed the muscular gene expression profiles of 68 commercial Duroc pigs belonging to two groups with extreme phenotypes for traits strongly related with lipid deposition and composition. This has allowed us to compare the physiological and metabolic implications of selecting for each of these extreme groups. Rather than upregulation of a single pathway, the main differences lied on the transcriptional levels of genes related with lipogenesis and lipolysis, revealing the existence of a cycle where triacylglycerols are continuously synthesized and degraded. Most strikingly, several genes which enhanced fatty acid -oxidation and favoured insulin signalling and glucose uptake were upregulated in the fattest animals, indicating that the events leading to peripheral insulin resistance in humans with increased levels of intramuscular fat and obesity do not take place in these pigs. Moreover, neither was detected the well-characterised low-grade inflammatory state observed in overweighed humans. Conclusion: As a whole, our data suggest that selection for increasing intramuscular fat content in pigs would lead to a shift but not a disruption of the metabolic homeostasis of muscle cells. Future studies on the post-translational changes affecting protein activity or expression as well as information about protein location within the cell would be needed to fully understand how lipid deposition affects muscle physiology in pigs.

Publication Title

Muscle transcriptomic profiles in pigs with divergent phenotypes for fatness traits.

Sample Metadata Fields

Age, Specimen part

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accession-icon GSE115887
Expression data from Drd2+ cells of mouse mPFC
  • organism-icon Mus musculus
  • sample-icon 2 Downloadable Samples
  • Technology Badge Icon Affymetrix Mouse Gene 2.0 ST Array (mogene20st)

Description

The heterogeneity of cortical dopamine D2 receptor expressing cells is not well characterized

Publication Title

High Sensitivity Mapping of Cortical Dopamine D2 Receptor Expressing Neurons.

Sample Metadata Fields

Specimen part

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accession-icon GSE51980
CD44 is a negative cell surface marker for pluripotent stem cell identification during human fibroblast reprogramming
  • organism-icon Homo sapiens
  • sample-icon 16 Downloadable Samples
  • Technology Badge IconIllumina HumanHT-12 V4.0 expression beadchip

Description

Analysis of different iPSC clones in comparison to parental fibroblasts and Pluripotent ESC and iPSC lines

Publication Title

CD44 is a negative cell surface marker for pluripotent stem cell identification during human fibroblast reprogramming.

Sample Metadata Fields

Cell line

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accession-icon GSE34901
Expression data from mouse lungs during E. coli pneumonia in the presence or absence of LIF neutralization
  • organism-icon Mus musculus
  • sample-icon 9 Downloadable Samples
  • Technology Badge Icon Affymetrix Mouse Gene 1.0 ST Array (mogene10st)

Description

Leukemia inhibitory factor (LIF) is amongst the IL-6 family cytokines expressed in the lungs during pneumonia. However, the function of endogenous LIF during pneumonia has never been explored. The purpose of this study was to determine the transcriptional response to pneumonia in the lungs and whether or how this response is influenced by LIF.

Publication Title

Leukemia inhibitory factor signaling is required for lung protection during pneumonia.

Sample Metadata Fields

Specimen part

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refine.bio is a repository of uniformly processed and normalized, ready-to-use transcriptome data from publicly available sources. refine.bio is a project of the Childhood Cancer Data Lab (CCDL)

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Cite refine.bio

Casey S. Greene, Dongbo Hu, Richard W. W. Jones, Stephanie Liu, David S. Mejia, Rob Patro, Stephen R. Piccolo, Ariel Rodriguez Romero, Hirak Sarkar, Candace L. Savonen, Jaclyn N. Taroni, William E. Vauclain, Deepashree Venkatesh Prasad, Kurt G. Wheeler. refine.bio: a resource of uniformly processed publicly available gene expression datasets.
URL: https://www.refine.bio

Note that the contributor list is in alphabetical order as we prepare a manuscript for submission.

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