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TranscriptomicsImpaired DNA damage metabolism promotes autoimmunity in TREX1 deficiencyÂ
Constitutive low level DNA damage is linked to innate immune activation. Hierarchical clustering of over 9000 transcripts revealed remarkably similar profiles in a patient with lupus erythematosus and a patient with AGS with up-regulation of genes involved in DNA damage signaling, p53-inducible gene...
ORGANISM(S): Homo sapiens 
2016-05-30 | E-GEOD-59233 | biostudies-arrayexpress
TranscriptomicsAutotaxin is expressed in FLT3-ITD positive acute myeloid leukemia and hematopoietic stem cells and promotes cell migration and proliferation
Autotaxin (ATX) has been reported to act as a motility and growth factor in a variety of cancer cells. The ATX protein acts as a secreted lysophospholipase D (lysoPLD) by converting lysophosphatidylcholine (LPC) to lysophosphatidic acid (LPA), which signals via G-protein coupled receptors and has im...
ORGANISM(S): Homo sapiens 
2013-05-10 | E-MTAB-1169 | biostudies-arrayexpress
UnknownSingle-Cell Analyses of Colon and Blood Reveal Distinct Immune Cell Signatures of Ulcerative Colitis and Crohn's Disease.
Not available
S-EPMC8166295 | biostudies-literature
TranscriptomicsGene expression in striatums of Foxp2-hum, Foxp2-ko and wild-type mice
It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution due to effects on aspects of speech and language. Here, we introduce these substitutions into the endogenous Foxp2 gene.of mice. Although these mice are gener...
ORGANISM(S): Mus musculus 
2010-05-22 | E-GEOD-13588 | biostudies-arrayexpress
Genomicsena-DATASET-RTL-10-04-2014-14:57:02:227-16 - samples
Fernandez-Cuesta et al, 2014, Nature Communication, Whole exome sequencing data set
EGAD00001000820 | EGA
Genomicsena-DATASET-RTL-03-04-2014-12:58:19:275-109 - samples
Fernandez-Cuesta et al., 2014, Nature Communication, Whole genome sequencing was performed using a read length of 2x100 bp for all samples. On average, 110 Gb of sequence were produced per sample, aiming a mean coverage of 30x for both tumour and matched normal.
EGAD00001000813 | EGA
GenomicsCA_SNP_6.0 - samples
SNP 6.0 arrays of carcinoid samples
EGAD00010000546 | EGA
Genomicsena-DATASET-RTL-26-03-2014-08:44:34:042-926 - samples
Fernandez-Cuesta et al, 2014, Nature Communication, RNA Sequencing data set
EGAD00001000795 | EGA
GenomicsFrequent mutations in chromatin-remodelling genes in pulmonary carcinoids
Pulmonary carcinoids are rare neuroendocrine tumours of the lung. The molecular alterations underlying the pathogenesis of these tumours have not been systematically studied so far. Here we perform gene copy number analysis (n¼54), genome/exome (n¼44) and transcriptome (n¼69) sequencing of pulmonary...
EGAS00001000650 | EGA
GenomicOncoArray: Prostate Cancer

Original description of the study: From ELLIPSE (linked to the PRACTICAL consortium), we contributed ~78,000 SNPs to the OncoArray. A large fraction of the content was derived from the GWAS meta-analyses in European ancestry populations (overall and aggressive disease; ~27K SNPs). We also ...

phs001391 | dbGaP
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