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
2011
Induced pluripotent stem cell models from X‐linked adrenoleukodystrophy patients
Jang J, Kang H, Kim H, Kim JY, Huh YJ, Kim D, Yoo J, Lee J, Lim B, Lee J, Yoon T, Park I, Hwang D, Daley GQ, Kim D. Induced pluripotent stem cell models from X‐linked adrenoleukodystrophy patients. Annals Of Neurology 2011, 70: 402-409. PMID: 21721033, DOI: 10.1002/ana.22486.Peer-Reviewed Original ResearchMeSH KeywordsAdrenoleukodystrophyATP Binding Cassette Transporter, Subfamily DATP-Binding Cassette TransportersBrainCell DifferentiationDNAExcitatory Postsynaptic PotentialsFatty Acids, NonesterifiedHematopoietic Stem Cell TransplantationHumansHydroxymethylglutaryl-CoA Reductase InhibitorsInduced Pluripotent Stem CellsLovastatinNeuronsOligodendrogliaPhenotypePhenylbutyratesReverse Transcriptase Polymerase Chain ReactionConceptsChildhood cerebral ALDX-ALDVLCFA accumulationLong chain fatty acid levelsAppropriate animal model systemsSevere clinical manifestationsFatty acid levelsAnimal model systemsDisease-relevant phenotypesClinical manifestationsCerebral ALDABCD1 mutationsAdrenoleukodystrophy patientsDevelopment of therapeuticsHuman oligodendrocytesUnique cellular modelDisease subtypesAbnormal accumulationAccurate diagnosisPluripotent stem cell modelsOligodendrocytesNew therapeuticsAcid levelsOligodendrocyte differentiationStem cell model
2010
Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies
Pessach IM, Ordovas-Montanes J, Zhang SY, Casanova JL, Giliani S, Gennery AR, Al-Herz W, Manos PD, Schlaeger TM, Park IH, Rucci F, Agarwal S, Mostoslavsky G, Daley GQ, Notarangelo LD. Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies. Journal Of Allergy And Clinical Immunology 2010, 127: 1400-1407.e4. PMID: 21185069, PMCID: PMC3081993, DOI: 10.1016/j.jaci.2010.11.008.Peer-Reviewed Original ResearchMeSH KeywordsAdaptive ImmunityCell DedifferentiationCell DifferentiationCell LineCell TransdifferentiationDNAGene ExpressionGenes, mycHumansImmunity, InnateImmunologic Deficiency SyndromesInduced Pluripotent Stem CellsKaryotypingKruppel-Like Factor 4Kruppel-Like Transcription FactorsOctamer Transcription Factor-3Proto-Oncogene MasSOXB1 Transcription FactorsConceptsInduced pluripotent stem cellsKrueppel-like factor 4Pluripotent stem cellsStem cellsIPSC linesHuman embryonic stem cellsEmbryonic stem cellsExpression of genesTranscription factor 4Patient-derived iPSC linesFactor 4Region Y-box 2Patient dermal fibroblastsTranscription factorsSomatic cellsDermal fibroblastsHuman primary immunodeficienciesEmbryoid bodiesExogenous expressionHuman diseasesGene correctionCell typesProto-oncogeneEmbryonic layersPolycistronic lentiviral vector
2009
Targeted and genome-scale strategies reveal gene-body methylation signatures in human cells
Ball MP, Li JB, Gao Y, Lee JH, LeProust EM, Park IH, Xie B, Daley GQ, Church GM. Targeted and genome-scale strategies reveal gene-body methylation signatures in human cells. Nature Biotechnology 2009, 27: 361-368. PMID: 19329998, PMCID: PMC3566772, DOI: 10.1038/nbt.1533.Peer-Reviewed Original ResearchTargeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming
Deng J, Shoemaker R, Xie B, Gore A, LeProust EM, Antosiewicz-Bourget J, Egli D, Maherali N, Park IH, Yu J, Daley GQ, Eggan K, Hochedlinger K, Thomson J, Wang W, Gao Y, Zhang K. Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming. Nature Biotechnology 2009, 27: 353-360. PMID: 19330000, PMCID: PMC2715272, DOI: 10.1038/nbt.1530.Peer-Reviewed Original ResearchConceptsHuman CpG islandsLarge eukaryotic genomesStem cellsEmbryonic stem cellsWhole-genome analysisPluripotent stem cellsEukaryotic genomesNuclear reprogrammingCytosine methylationBisulfite sequencingDNA methylationCpG islandsMethylationPadlock probesGenomeCellsReprogrammingSequencingFibroblastsIslands