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TranscriptomicsDNA Damage Response and Inflammatory Signaling Limit the MLL-ENL-induced Leukemogenesis in vivo
Activation of the MLL-ENL-ERtm oncogene initiates aberrant proliferation of myeloid progenitors. Here, we show induction of a fail-safe mechanism mediated by the DNA damage response (DDR) machinery that results in activation of the ATR/ATM-Chk1/Chk2-p53/p21 checkpoint and cellular senescence at earl...
ORGANISM(S): Mus musculus 
2012-04-21 | E-GEOD-35038 | biostudies-arrayexpress
TranscriptomicsGene expression analysis in 13 patients with mitochondrial ATP synthase deficiency (Agilent)
Defects of mitochondrial functions lead in humans to vast array of usually multisystemic pathologies and several hundreds of diseases resulting from various defects of mitochondria biogenesis and maintenance, defects of respiratory chain complexes (OXPHOS) or defects of individual mitochondrial prot...
ORGANISM(S): Homo sapiens 
2008-08-01 | E-GEOD-10956 | biostudies-arrayexpress
TranscriptomicsGene expression analysis in 13 patients with mitochondrial ATP synthase deficiency (MitoArray)
Defects of mitochondrial functions lead in humans to vast array of usually multisystemic pathologies and several hundreds of diseases resulting from various defects of mitochondria biogenesis and maintenance, defects of respiratory chain complexes (OXPHOS) or defects of individual mitochondrial prot...
ORGANISM(S): Homo sapiens 
2010-06-05 | E-GEOD-8648 | biostudies-arrayexpress
TranscriptomicsGene expression in leucocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease)
Identification of differentially expressed genes in lecocytes of patients with autosomal dominat neronal ceroid lipofuscinosis (Kufs disease) Leucocyte RNA expression of consanguineous Kufs disease cases (n=4) and unrelated healthy controls (n=4)
ORGANISM(S): Homo sapiens 
2011-09-30 | E-GEOD-30369 | biostudies-arrayexpress
TranscriptomicsComplete OATP1B1 and OATP1B3 deficiency underlies human Rotor syndrome.
Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, near-absent hepatic uptake of anionic diagnostics, and coproporphyrinuria. The mechanistic basis of other hyperbilirubinemia syndromes is largely understood, but that of Rotor syndrome has remained enig...
ORGANISM(S): Homo sapiens 
2012-01-16 | E-GEOD-33733 | biostudies-arrayexpress
TranscriptomicsRespiratory chain protein analysis and gene expression profiles of fibroblast cell lines from 9 patients with SURF1 gene mutations
Upregulation of CI, CIII and CV at a protein but not mRNA level in LSCOX cell with COX deficiency due to SURF1 mutations compared to control – evidence for posttranscriptional compensatory mechanism. Two-condition experiment, patients vs. controls cells. Biological replicates: 3 controls and 9 pat...
ORGANISM(S): Homo sapiens 
2011-06-01 | E-GEOD-26322 | biostudies-arrayexpress
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