2022
Vitamin C epigenetically controls osteogenesis and bone mineralization
Thaler R, Khani F, Sturmlechner I, Dehghani SS, Denbeigh JM, Zhou X, Pichurin O, Dudakovic A, Jerez SS, Zhong J, Lee JH, Natarajan R, Kalajzic I, Jiang YH, Deyle DR, Paschalis EP, Misof BM, Ordog T, van Wijnen AJ. Vitamin C epigenetically controls osteogenesis and bone mineralization. Nature Communications 2022, 13: 5883. PMID: 36202795, PMCID: PMC9537512, DOI: 10.1038/s41467-022-32915-8.Peer-Reviewed Original ResearchConceptsSevere skeletal defectsBone-specific genesEpigenetic functionsChromatin accessibilityHistone demethylationDNA hydroxymethylationTranscriptional activityPro-osteogenic genesCell differentiationOsteogenic cell differentiationOsteogenic differentiationGenesSkeletal defectsBone phenotypeMurine boneOsteoblastogenesisDifferentiationKnockout miceGulo knockout miceVitamin C deficiencyTET1Collagen maturationPromoterDemethylationVitamin C
2016
Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development
Zhang W, Xia W, Wang Q, Towers AJ, Chen J, Gao R, Zhang Y, Yen CA, Lee AY, Li Y, Zhou C, Liu K, Zhang J, Gu TP, Chen X, Chang Z, Leung D, Gao S, Jiang YH, Xie W. Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development. Molecular Cell 2016, 64: 1062-1073. PMID: 27916660, DOI: 10.1016/j.molcel.2016.10.030.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBinding SitesChromatinCpG IslandsDNA-Binding ProteinsEmbryo, MammalianGene Expression Regulation, DevelopmentalGenomic ImprintingMaleMiceMouse Embryonic Stem CellsOvumPromoter Regions, GeneticProtein BindingProtein Interaction Domains and MotifsProtein IsoformsProto-Oncogene ProteinsSpermatozoaConceptsPrimordial germ cellsEmbryonic stem cellsCpG islandsChromatin bindingDNA demethylationMouse developmentDNA-binding modulesCXXC domainTET proteinsEarly embryosSomatic cellsN-terminusDevelopmental defectsShort isoformExclusive expressionTET1Germ cellsIsoform switchStem cellsDemethylationIsoformsCellsBindingImportant roleTerminusChromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge
Xu Q, Goldstein J, Wang P, Gadi IK, Labreche H, Rehder C, Wang WP, McConkie A, Xu X, Jiang YH. Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge. Pediatric Research 2016, 80: 371-381. PMID: 27119313, PMCID: PMC5382808, DOI: 10.1038/pr.2016.101.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAlgorithmsAutistic DisorderChildChild, PreschoolChromatinComparative Genomic HybridizationCounselingDevelopmental DisabilitiesDNA Copy Number VariationsFemaleGene DeletionGene RearrangementHistone-Lysine N-MethyltransferaseHumansInfantIntellectual DisabilityMaleMicroarray AnalysisNeurodevelopmental DisordersPedigreeProtein MethyltransferasesConceptsNeurodevelopmental disordersAutism spectrum disorderIntellectual disabilityDevelopmental disabilitiesCopy number variationsChromosomal microarray analysisEtiological evaluationClinical evaluationClinical significanceUnknown significanceCNV analysisGenetics clinicEtiology of ASDCounseling familiesDisordersVariable penetranceClinicMicroarray analysisNovel deletionSpectrum disorderDisabilityCounseling challengesFurther supportEtiologyCohort
2004
EPIGENETICS AND HUMAN DISEASE
Jiang YH, Bressler J, Beaudet AL. EPIGENETICS AND HUMAN DISEASE. Annual Review Of Genomics And Human Genetics 2004, 5: 479-510. PMID: 15485357, DOI: 10.1146/annurev.genom.5.061903.180014.Peer-Reviewed Original ResearchConceptsHuman diseasesComplex disease traitsRole of epigeneticsHeritable changesChromatin structureGenomic imprintingDNA sequencesEpigenetic phenotypesDisease traitsGene expressionImprinting defectsGenetic scansBeckwith-Wiedemann syndromeGenesDisease phenotypeUniparental disomyDe novoEpigeneticsPhenotypeGenetic disordersExpressionChromatinEpimutationsTraitsMutations