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Title: A mutation in the c-Fos gene associated with congenital generalized lipodystrophy      
dateReleased:
08-07-2013
description:
Lipodystrophies resemble syndromes of disturbed adipocyte biology or development and severe congenital forms (CGL) lack adipose tissue. The ubiquitous immediate-early gene c-fos is one essential transcription factor to initiate adipocyte differentiation. In a CGL patient we identified a single homozygous point mutation in the promoter of c-fos gene. The mutation facilitates the formation of a novel specific protein/ DNA complex and ubiquitously reduces basal and inducible c-fos transcription activity. We used microarrays to determine differences in gene expression due to a repressive c-fos promoter mutation in a patient with CGL. Cultued fibroblasts of non diabetic controls and a patient with c-fos promoter mutation were analyzed at identical passage number and growth conditions without further additional treatment.
privacy:
not applicable
aggregation:
instance of dataset
ID:
E-GEOD-39825
refinement:
raw
alternateIdentifiers:
39825
keywords:
functional genomics
dateModified:
06-02-2014
availability:
available
types:
gene expression
name:
Homo sapiens
ID:
A-GEOD-8300
name:
[HG_U95Av2] Affymetrix Human Genome U95 Version 2 Array
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-GEOD-39825/E-GEOD-39825.raw.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ebi.ac.uk/arrayexpress/files/E-GEOD-39825/E-GEOD-39825.processed.1.zip
storedIn:
ArrayExpress
qualifier:
gzip compressed
format:
TXT
accessType:
download
authentication:
none
authorization:
none
accessURL: https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE39825
storedIn:
Gene Expression Omnibus
qualifier:
not compressed
format:
HTML
accessType:
landing page
primary:
true
authentication:
none
authorization:
none
abbreviation:
EBI
homePage: http://www.ebi.ac.uk/
ID:
SCR:004727
name:
European Bioinformatics Institute
homePage: https://www.ebi.ac.uk/arrayexpress/
ID:
SCR:002964
name:
ArrayExpress

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