2020
Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions
McKnight I, Hart C, Park IH, Shim JW. Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions. Experimental Neurology 2020, 335: 113523. PMID: 33157092, PMCID: PMC7750280, DOI: 10.1016/j.expneurol.2020.113523.Peer-Reviewed Original ResearchConceptsCongenital hydrocephalusCentral nervous systemFamilial Parkinson's diseaseAlzheimer's diseaseCausative genesGenome Data ViewerHuman genetic mutationsDisease-susceptible genesHigh mutation rateGenetic mutationsHuman congenital hydrocephalusHuman clinical studiesPutative genesHuman genesGenomic informationT contentChromosomal characteristicsDNA compositionGenetic basisHigh adenineMutation rateClinical studiesGenesPreclinical modelsThymine content
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