2014
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons
Griesi-Oliveira K, Acab A, Gupta AR, Sunaga DY, Chailangkarn T, Nicol X, Nunez Y, Walker MF, Murdoch JD, Sanders SJ, Fernandez TV, Ji W, Lifton RP, Vadasz E, Dietrich A, Pradhan D, Song H, Ming GL, Gu X, Haddad G, Marchetto MC, Spitzer N, Passos-Bueno MR, State MW, Muotri AR. Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular Psychiatry 2014, 20: 1350-1365. PMID: 25385366, PMCID: PMC4427554, DOI: 10.1038/mp.2014.141.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntineoplastic Combined Chemotherapy ProtocolsAutistic DisorderCarboplatinCell DifferentiationCell LineCell ProliferationCells, CulturedChildDisease Models, AnimalEmbryo, MammalianEtoposideGene Expression RegulationHumansIn Vitro TechniquesInduced Pluripotent Stem CellsInhibitory Postsynaptic PotentialsMaleMiceMice, Inbred C57BLMice, TransgenicMitoxantroneMutationNeuronsPrednisoloneSignal TransductionTRPC Cation ChannelsTRPC6 Cation ChannelConceptsHuman neuronsPluripotent stem cellsNon-syndromic autismMethyl-CpGNeuronal developmentNonsynonymous mutationsDental pulp cellsFunction mutationsHaploinsufficiency leadsFunctional studiesNeuronal cellsNeuronal phenotypeGenetic variantsStem cellsFactor 1Cation channelsNon-syndromic autism spectrum disorderInsulin-like growth factor-1Incomplete penetranceMutationsRett syndromeSuch variantsAutism spectrum disorderPulp cellsGrowth factor-1
2013
Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism. Cell 2013, 155: 997-1007. PMID: 24267886, PMCID: PMC3995413, DOI: 10.1016/j.cell.2013.10.020.Peer-Reviewed Original ResearchConceptsCoexpression networkASD genesComplex developmental syndromeGenome-wide sequencingCortical projection neuronsHigh-confidence ASD genesExpression data setsPleiotropic genesSpecific genesDevelopmental processesDevelopmental syndromesSequencing studiesGenesProjection neuronsCell typesBrain regionsType mutationsCommon phenotypeASD pathophysiologyPathogenesis of autismAutism spectrum disorderMutationsHuman brain regionsUnknown etiologyRecent studies