Transcriptomics,Genomics

Dataset Information

30

Gene expression analysis of TSC-tubers reveals increased expression of adhesion and inflammatory factors


ABSTRACT: Cortical tubers in patients with tuberous sclerosis complex (TSC) are associated with cognitive disability and intractable epilepsy. While these developmental malformations are believed to result from the effects of TSC1 or TSC2 Gene mutations, the molecular mechanisms leading to tuber formation during brain development as well as the onset of seizures remain largely unknown. We used the Affymetrix Gene Chip platform as a genome-wide strategy to define the Gene expression profile of cortical tubers resected during epilepsy surgery compared to histologically normal perituberal tissue (adjacent to the cortical tuber) from the same patients or autopsy control tissue. Overall design: Gene expression profiles of cortical tubers were compared with autopsy control specimens and perituberal tissue from the same patients.

REANALYSED by: GSE119128

INSTRUMENT(S): [HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array

SUBMITTER: Floyd Wittink  

PROVIDER: GSE16969 | GEO | 2010-02-02

SECONDARY ACCESSION(S): PRJNA117259

REPOSITORIES: GEO

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Publications

Gene expression analysis of tuberous sclerosis complex cortical tubers reveals increased expression of adhesion and inflammatory factors.

Boer Karin K   Crino Peter B PB   Gorter Jan A JA   Nellist Mark M   Jansen Floor E FE   Spliet Wim G M WG   van Rijen Peter C PC   Wittink Floyd R A FR   Breit Timo M TM   Troost Dirk D   Wadman Wytse J WJ   Aronica Eleonora E  

Brain pathology (Zurich, Switzerland) 20091008 4


Cortical tubers in patients with tuberous sclerosis complex are associated with disabling neurological manifestations, including intractable epilepsy. While these malformations are believed to result from the effects of TSC1 or TSC2 gene mutations, the molecular mechanisms leading to tuber formation, as well as the onset of seizures, remain largely unknown. We used the Affymetrix Gene Chip platform to provide the first genome-wide investigation of gene expression in surgically resected tubers, c  ...[more]

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