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
2001
Loss of imprinting of insulin-like growth factor-II in Wilms' tumor commonly involves altered methylation but not mutations of CTCF or its binding site.
Cui H, Niemitz EL, Ravenel JD, Onyango P, Brandenburg SA, Lobanenkov VV, Feinberg AP. Loss of imprinting of insulin-like growth factor-II in Wilms' tumor commonly involves altered methylation but not mutations of CTCF or its binding site. Cancer Research 2001, 61: 4947-50. PMID: 11431321.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBinding SitesCCCTC-Binding FactorDNA MethylationDNA-Binding ProteinsGene Expression Regulation, NeoplasticGenomic ImprintingHumansInsulin-Like Growth Factor IIMutationRepressor ProteinsReverse Transcriptase Polymerase Chain ReactionRNA, Long NoncodingRNA, MessengerRNA, UntranslatedTranscription FactorsWilms TumorConceptsLoss of imprintingH19 DMRMaternal alleleActive maternal alleleAberrant methylationTranscription factor CTCFInsulin-like growth factor II geneSilent maternal alleleGrowth factor II geneFactor II geneFactor CTCFTranscriptional silencingConsensus sitesCTCF geneNormal imprintingH19 geneCTCFIGF2 imprintingMaternal copyWilms tumorRegion upstreamCommon molecular abnormalityMethylationInsulin-like growth factor IIGenes