2019
DNA Methylation and Susceptibility to Autism Spectrum Disorder
Tremblay MW, Jiang YH. DNA Methylation and Susceptibility to Autism Spectrum Disorder. Annual Review Of Medicine 2019, 70: 151-166. PMID: 30691368, PMCID: PMC6597259, DOI: 10.1146/annurev-med-120417-091431.Peer-Reviewed Original ResearchConceptsDNA methylationAbnormal DNA methylationDNA methylation reprogrammingGenome-wide changesMethylation-dependent regulationMethylation reprogrammingEpigenetic machineryNext-generation sequencingEmbryonic developmentMolecular basisDNA modificationsMethylationASD etiologyGenetic mutationsAttractive hypothesisRecent advancesReprogrammingEpimutationsTranscriptionASD casesMultiple levelsMachinerySequencingTechnical advancesMutations
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
2003
Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome
Weeber EJ, Jiang YH, Elgersma Y, Varga AW, Carrasquillo Y, Brown SE, Christian JM, Mirnikjoo B, Silva A, Beaudet AL, Sweatt JD. Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome. Journal Of Neuroscience 2003, 23: 2634-2644. PMID: 12684449, PMCID: PMC6742065, DOI: 10.1523/jneurosci.23-07-02634.2003.Peer-Reviewed Original ResearchMeSH KeywordsAngelman SyndromeAnimalsCalcium-Calmodulin-Dependent Protein Kinase Type 2Calcium-Calmodulin-Dependent Protein KinasesCells, CulturedHippocampusImmunohistochemistryIntellectual DisabilityLigasesLong-Term PotentiationMiceMutationPhosphoprotein PhosphatasesPhosphorylationProtein KinasesSynapsesThreonineUbiquitin-Protein LigasesConceptsCalmodulin-dependent protein kinase IIProtein kinase IIKinase IIAngelman syndromeCalcium/calmodulin-dependent protein kinase IIMutant animalsMolecular basisMental retardation syndromeMolecular causesCaMKII activityLong-term potentiationCaMKIIPostsynaptic densityRetardation syndromeMouse modelMisregulationMutantsHippocampal long-term potentiationSevere mental retardationMental retardationContext-dependent learningCorresponding changes