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Accession IconGSE6955

Expression in Superior Frontal Gyrus of normal individuals or females of different ages affected by Rett syndrome

Organism Icon Homo sapiens
Sample Icon 6 Downloadable Samples
Technology Badge Icon Affymetrix Human Genome U95 Version 2 Array (hgu95av2)

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Description
Rett syndrome (RTT, OMIM #312750) is a severe X-linked neurodevelopmental disorder linked to heterozygous de novo mutations in the MECP2 gene. MECP2 encodes methyl-CpG-binding protein 2 (MeCP2), which represses gene transcription by binding to 5-methylcytosine residues in symmetrically positioned CpG dinucleotides. The disorder is almost exclusively diagnosed in females, because males affected by the disease usually die perinatally due to severe encephalopathy. Direct MeCP2 target genes underlying the neuropathogenesis of RTT remain largely unknown.
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