Article
Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome.
Translational psychiatry - 22 Oct 2013
Plummer J T, Evgrafov O V, Bergman M Y, Friez M, Haiman C A, Levitt P, Aldinger K A
Abstract excerpt
Single nucleotide variants (SNV) in the gene encoding the MET receptor tyrosine kinase have been associated with an increased risk for autism spectrum disorders (ASD). The MET promoter SNV rs1858830 C 'low activity' allele is enriched in ASD, associated with reduced protein expression, and impacts functional and structural circuit connectivity in humans. To gain insight into the transcriptional regulation of MET...
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