2013
Investigation of Rett syndrome using pluripotent stem cells
Dajani R, Koo S, Sullivan GJ, Park I. Investigation of Rett syndrome using pluripotent stem cells. Journal Of Cellular Biochemistry 2013, 114: 2446-2453. PMID: 23744605, PMCID: PMC3773984, DOI: 10.1002/jcb.24597.Peer-Reviewed Original ResearchConceptsPluripotent stem cellsStem cellsRett syndromeFunction of MeCP2Pathophysiology of RTTEmbryonic stem cellsEpigenetic instabilityTranscription factorsDe novo mutationsRTT phenotypeCurrent iPSCHuman diseasesMeCP2Novo mutationsIPSCsCellsNeurodevelopmental disordersOverexpressionMutationsPhenotypeMurine modelRecapitulationMaintenanceIdentification
2010
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ. Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients. Nature 2010, 464: 292-296. PMID: 20164838, PMCID: PMC3058620, DOI: 10.1038/nature08792.Peer-Reviewed Original ResearchConceptsDyskeratosis congenita cellsDyskeratosis congenita patientsPluripotency-associated transcription factorsInduced pluripotent stem cellsPluripotent stem cellsTelomerase componentsTranscription factorsIPS cell technologyGenetic lesionsMultiple tissuesStem cellsDyskeratosis congenitaTERC expressionCellsElongationTelomeraseMaintenanceExpressionCell technology