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
2004
A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A
Jiang Y, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A. American Journal Of Medical Genetics Part A 2004, 131A: 1-10. PMID: 15389703, DOI: 10.1002/ajmg.a.30297.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAutistic DisorderBlotting, SouthernBlotting, WesternBrainChromosome AberrationsChromosomes, Human, Pair 15Deoxyribonuclease BamHIDeoxyribonuclease HpaIIDNADNA MethylationFemaleGene DuplicationHumansIn Situ Hybridization, FluorescenceMaleModels, GeneticMutationPedigreeUbiquitin-Protein LigasesConceptsOligogenic inheritanceComplex disease traitsGenome-wide studiesAbnormal DNA methylationE6-AP proteinDe novoGenetic modelsRole of UBE3AUbiquitin ligaseDNA methylationEpigenetic abnormalitiesDisease traitsAutism brainPaternal duplicationChromosome 15qUBE3AGenetic contributionRegion downstreamGenesOligogenic modelInheritanceProteinNovoLigaseBrain samples