2012
Modeling Supravalvular Aortic Stenosis Syndrome With Human Induced Pluripotent Stem Cells
Ge X, Ren Y, Bartulos O, Lee MY, Yue Z, Kim KY, Li W, Amos PJ, Bozkulak EC, Iyer A, Zheng W, Zhao H, Martin KA, Kotton DN, Tellides G, Park IH, Yue L, Qyang Y. Modeling Supravalvular Aortic Stenosis Syndrome With Human Induced Pluripotent Stem Cells. Circulation 2012, 126: 1695-1704. PMID: 22914687, PMCID: PMC3586776, DOI: 10.1161/circulationaha.112.116996.Peer-Reviewed Original ResearchConceptsActin filament bundlesSmooth muscle αSmooth muscle cellsExtracellular signal-regulated kinase 1/2Muscle αFilament bundlesSignal-regulated kinase 1/2Four-nucleotide insertionDisease mechanismsContractile smooth muscle cellsStem cell linesPluripotent stem cellsPluripotent stem cell linePlatelet-derived growth factorRhoA signalingVascular smooth muscle cellsRecombinant proteinsKinase 1/2Elastin geneELN geneWilliams-Beuren syndromeBrdU analysisSupravalvular aortic stenosisStem cellsHigh proliferation rate
2011
Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
Kim KY, Hysolli E, Park IH. Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2011, 108: 14169-14174. PMID: 21807996, PMCID: PMC3161557, DOI: 10.1073/pnas.1018979108.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceBase SequenceBiomarkersCell DifferentiationChildChild, PreschoolChromosomes, Human, XEmbryonic Stem CellsFemaleFibroblastsGene Expression RegulationHumansInduced Pluripotent Stem CellsKruppel-Like Factor 4Methyl-CpG-Binding Protein 2Molecular Sequence DataNeuronsRett SyndromeX Chromosome InactivationConceptsX chromosomePluripotent stem cellsSingle active X chromosomeRett syndromeActive X chromosomePathophysiology of RTTX-chromosome inactivationStem cellsInduced pluripotent stem cellsRTT fibroblastsMurine genetic modelsMolecular dissectionChromosome inactivationFactors OCT4Methyl-CpGRTT phenotypeNeuronal differentiationChromosomesPurposeful hand movementsNormal developmentRTT modelModel of RTTProtein 2Maturation defectsNeuronal maturation