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
2013
MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived Neurons
Larimore J, Ryder PV, Kim KY, Ambrose LA, Chapleau C, Calfa G, Gross C, Bassell GJ, Pozzo-Miller L, Smith Y, Talbot K, Park IH, Faundez V. MeCP2 Regulates the Synaptic Expression of a Dysbindin-BLOC-1 Network Component in Mouse Brain and Human Induced Pluripotent Stem Cell-Derived Neurons. PLOS ONE 2013, 8: e65069. PMID: 23750231, PMCID: PMC3672180, DOI: 10.1371/journal.pone.0065069.Peer-Reviewed Original ResearchConceptsMutant miceRett syndrome patientsBDNF contentDeficient miceSyndrome patientsInduced pluripotent stem cell-derived neuronsHuman Induced Pluripotent Stem Cell-Derived NeuronsPluripotent stem cell-derived neuronsStem cell-derived neuronsAutism spectrum disorderNormal human hippocampusCell-derived neuronsHuman inducible pluripotent stem cellsAsymmetric synapsesQuantitative real-time PCRHippocampal samplesReal-time PCRMouse hippocampusHuman neuronsPathogenic mechanismsQuantitative qRT-PCRQuantitative immunohistochemistryExpression of componentsSynaptic expressionInducible pluripotent stem cells