2022
Epigenetic Epidemiology of Autism and Other Neurodevelopmental Disorders
Wang S, Jiang Y. Epigenetic Epidemiology of Autism and Other Neurodevelopmental Disorders. 2022, 405-426. DOI: 10.1007/978-3-030-94475-9_17.ChaptersEpigenome-wide association studiesAbnormal DNA methylationDNA methylationHistone modificationsTissue-specific patternsNeurodevelopmental disordersEpigenetic regulationEpigenetic epidemiologyEmbryonic developmentEpigenetic dysregulationGenetic lociEpigenetic reprogramingAssociation studiesMethylationRecent technical advancesEnvironmental factorsRegion analysisEpimutationsReprogramingEtiology of NDDIntellectual disabilityLociTechnical advancesAllelesRegulation
2013
Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders
Zhu L, Wang X, Li XL, Towers A, Cao X, Wang P, Bowman R, Yang H, Goldstein J, Li YJ, Jiang YH. Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. Human Molecular Genetics 2013, 23: 1563-1578. PMID: 24186872, PMCID: PMC3929093, DOI: 10.1093/hmg/ddt547.Peer-Reviewed Original ResearchConceptsAlternative splicingMolecular basisDNA methylation inhibitorDNA methylation profilingOverall DNA methylationRole of genesIsoform-specific expressionIntragenic promotersEpigenetic modificationsMRNA splice variantsDNA methylationCpG islandsMethylation inhibitorMethylation patternsEpigenetic dysregulationMethylation profilingEpigenetic causesCGIs 4Expression of SHANK3CGI-2Etiology of ASDSplice variantsMethylationCultured cellsAltered expression