2017
Human induced pluripotent stem cells for modelling neurodevelopmental disorders
Ardhanareeswaran K, Mariani J, Coppola G, Abyzov A, Vaccarino FM. Human induced pluripotent stem cells for modelling neurodevelopmental disorders. Nature Reviews Neurology 2017, 13: 265-278. PMID: 28418023, PMCID: PMC5782822, DOI: 10.1038/nrneurol.2017.45.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsEmbryonic stem cellsNeurodevelopmental disordersPluripotent stem cellsBrain developmentStem cellsAbnormal brain developmentBrain cell typesDopaminergic neuronsCortical neuronsUnique genetic signatureEarly developmentKey PointsHumanHiPSC modelsSomatic cellsDisordersGenetic signaturesGenetic studiesAltered trajectoryCell typesAdult cellsNeuronsUnknown facetsCellsDrug discoveryHiPSCs
2015
FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders
Mariani J, Coppola G, Zhang P, Abyzov A, Provini L, Tomasini L, Amenduni M, Szekely A, Palejev D, Wilson M, Gerstein M, Grigorenko EL, Chawarska K, Pelphrey KA, Howe JR, Vaccarino FM. FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders. Cell 2015, 162: 375-390. PMID: 26186191, PMCID: PMC4519016, DOI: 10.1016/j.cell.2015.06.034.Peer-Reviewed Original ResearchConceptsInduced pluripotent stem cellsGene network analysisGene network modulesUpregulation of genesTranscription factor Foxg1Accelerated cell cyclePluripotent stem cellsRNA interferenceGenetic basisSynaptic assemblyCell cycleBrain developmentNeuron fateNeuron differentiationNeuronal differentiationGenomic mutationsHuman brain developmentIdiopathic autism spectrum disorderAltered expressionStem cellsCell proliferationFOXG1ASD pathophysiologyNetwork modulesNeural culturesThe use of stem cells to study autism spectrum disorder.
Ardhanareeswaran K, Coppola G, Vaccarino F. The use of stem cells to study autism spectrum disorder. The Yale Journal Of Biology And Medicine 2015, 88: 5-16. PMID: 25745370, PMCID: PMC4345539.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHuman-induced pluripotent stem cellsStem cellsNeuronal developmentIdentification of hundredsEmbryonic stem cellsUnique genetic signaturePluripotent stem cellsCore symptomsASD patientsAutism spectrum disorderPost-mortem brain samplesGenome studiesGenetic signaturesAutism core symptomsNew therapeutic avenuesSerious developmental disabilitiesIdiopathic autism spectrum disorderSkin biopsiesHuman-specific behaviorsSpectrum disorderSingle drugDrug AdministrationTherapeutic avenuesBrain samplesDiagnostic tests
2012
Neurobiology meets genomic science: The promise of human-induced pluripotent stem cells
Stevens HE, Mariani J, Coppola G, Vaccarino FM. Neurobiology meets genomic science: The promise of human-induced pluripotent stem cells. Development And Psychopathology 2012, 24: 1443-1451. PMID: 23062309, PMCID: PMC3513939, DOI: 10.1017/s095457941200082x.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsHuman-induced pluripotent stem cellsPluripotent stem cellsStem cellsNeuronal cellsInduced pluripotent stem cell (iPSC) technologyPluripotent stem cell (iPSC) technologyNormal human brain developmentHuman genesSomatic cellsCell biologyStem cell technologyGene transcriptsHuman brain developmentAspects of developmentMessenger RNADevelopmental stepsGenomic scienceBiologySeries of eventsCellsBrain developmentGenesGeneticsHuman individualsTranscriptsModeling human cortical development in vitro using induced pluripotent stem cells
Mariani J, Simonini MV, Palejev D, Tomasini L, Coppola G, Szekely AM, Horvath TL, Vaccarino FM. Modeling human cortical development in vitro using induced pluripotent stem cells. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 12770-12775. PMID: 22761314, PMCID: PMC3411972, DOI: 10.1073/pnas.1202944109.Peer-Reviewed Original ResearchConceptsHuman brain developmentHuman induced pluripotent stem cellsLayer-specific cortical neuronsBrain developmentHuman cerebral cortexHuman cortical developmentStem cellsPluripotent stem cellsCerebral cortexCortical neuronsCortical developmentCNS regionsRadial gliaCortical wallDorsal telencephalonEmbryonic telencephalonGene expression profilesInduced pluripotent stem cellsIntermediate progenitorsTelencephalic developmentTelencephalonExpression profilesTranscriptional programsCellsGlia