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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Transcription profiling of human fibroblast RNA from a patient with a mitochondrial oxidative phosphorylation complex I deficiency vs normal fibroblast RNA

ABSTRACT: Comparison of fibroblast RNA from a patient with a mitochondrial oxidative phosphorylation comnplex I deficiency against normal fibroblast RNA.

Note: this experiment submission is not fully MIAME compliant, due to the unavailability of oligonucleotide sequences on the A-MEXP-70 array ("Adelaide, H.sapiens, 19k array, version 1").

ORGANISM(S): Homo sapiens

DISEASE(S): mitochondrial complex I deficiency

SUBMITTER: Lee Parry

PROVIDER: E-MEXP-119 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.

Kirby Denise M DM Salemi Renato R Sugiana Canny C Ohtake Akira A Parry Lee L Bell Katrina M KM Kirk Edwin P EP Boneh Avihu A Taylor Robert W RW Dahl Hans-Henrik M HH Ryan Michael T MT Thorburn David R DR

The Journal of clinical investigation 20040901 6

complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I-deficient patients. We investigated whether there may be an unknown common gene by performing functional complementation analysis of cell lines from 10 unrelated patients. Two of the patients were found to have mitochondrial DNA mu ...[more]

PMID: 15372108

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Transcription profiling of human fibroblast RNA from patient with a mitochondrial oxidative phosphorylation complex I deficency vs normal fibroblast RNA

Project description:Comparison of fibroblast RNA from patient with a mitochondrial oxidative phosphorylation complex I deficency to normal fibroblast RNA.<br><br>Note: this experiment submission is not fully MIAME compliant, due to the unavailability of oligonucleotide sequences on the A-MEXP-70 array ("Adelaide, H.sapiens, 19k array, version 1").

2004-09-01 | E-MEXP-118 | biostudies-arrayexpress

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Project description:Gene expression profiles in blasts from three APL patients expressing PML/RAR were assessed before and after treatment with 1 uM retinoic acid (RA) in vitro for four hours. We then studied a U937 clone conditionally expressing PML/RAR (U937-PR), (Grignani et al. 1993) (Alcalay et al. 2003), and compared the gene expression profile prior to and after 4 hours of treatment with 1 uM RA, to that obtained from a cell line bearing an empty vector (U937-MT). For each sample, biotinylated cRNA targets were synthesized starting from 5ug of total RNA, and hybridized to the complete set of HG-U133 Affymetrix oligonucleotide chips, which explores the expression of approximately 45,000 human transcripts. Results were analyzed using MASv5 and further elaborated with the GenePicker software. GeneChip probe sets regulated by RA in each sample were clustered into non-redundant regulated genes according to UniGene release Hs.166.

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Transcription profiling of dissected neuroepithelium (Neur.) and from all other non-neuroepithelial tissues (N. Neur for Non Neuronal tissues) from six wild type (WT) and six Mdm4-null mouse embryos (KO)

Project description:Total RNA was isolated from the dissected neuroepithelium (Neur.) and from all other non-neuroepithelial tissues (N. Neur for Non Neuronal tissues) from six wild-type (WT) and six Mdm4-null embryos (KO). Equal quantities of total RNA from single samples were used to obtain four RNA pools (WT-Neur, WT-N.Neur, KO-Neur, KO-N.Neur), each representing one of the experimental samples under analysis. Biotin labeled cRNA targets were obtained starting from 10ug of total RNA derived from the RNA pools. cDNA synthesis was performed with GIBCO SuperScript Custom cDNA Synthesis Kit, and biotin-labeled antisense RNA was transcribed in vitro using Ambion's In Vitro Transcription System, and including Bio-16-UTP and Bio-11-CTP (Enzo) in the reaction. Each labeled target was hybridized to two copies of the the complete Affymetrix MG-U174v2 chip set.

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Metadata Entered in Submitting Proteomic Data to PRIDE

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