Cargando…
Transcriptional regulation of the MET receptor tyrosine kinase gene by MeCP2 and sex-specific expression in autism and Rett syndrome
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 impa...
Autores principales: | Plummer, J T, Evgrafov, O V, Bergman, M Y, Friez, M, Haiman, C A, Levitt, P, Aldinger, K A |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818007/ https://www.ncbi.nlm.nih.gov/pubmed/24150225 http://dx.doi.org/10.1038/tp.2013.91 |
Ejemplares similares
-
Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene
por: Aldinger, Kimberly A, et al.
Publicado: (2013) -
Structural investigation of Rett-inducing MeCP2 mutations()
por: Spiga, Ottavia, et al.
Publicado: (2018) -
Rett mutations attenuate phase separation of MeCP2
por: Fan, Chunyan, et al.
Publicado: (2020) -
The Molecular Functions of MeCP2 in Rett Syndrome Pathology
por: Sharifi, Osman, et al.
Publicado: (2021) -
MeCP2: The Genetic Driver of Rett Syndrome Epigenetics
por: Good, Katrina V., et al.
Publicado: (2021)