2024
Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes
Lu X, Ni P, Suarez-Meade P, Ma Y, Forrest E, Wang G, Wang Y, Quiñones-Hinojosa A, Gerstein M, Jiang Y. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell Reports 2024, 43: 114376. PMID: 38900637, PMCID: PMC11328446, DOI: 10.1016/j.celrep.2024.114376.Peer-Reviewed Original ResearchSHANK family genesFamily genesLong-read sequencingCDNA captureTranscript structureDeleterious variantsGenomic studiesAbundant mRNAsTranscriptional dysregulationStochastic transcriptionStudies of neuropsychiatric disordersCausative genesTranscriptional profilesTranscriptional determinantsTranscriptomePostmortem brain tissueAutism spectrum disorderShank3 transcriptsTranscriptionGenesGenomeSHANK3Neuropsychiatric disordersSpectrum disorderAutism model
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