2018
PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder
Goodrich M, Armour AC, Panchapakesan K, You X, Devaney J, Knoblach S, Sullivan CAW, Herrero MJ, Gupta AR, Vaidya CJ, Kenworthy L, Corbin JG. PAC1R Genotype to Phenotype Correlations in Autism Spectrum Disorder. Autism Research 2018, 12: 200-211. PMID: 30556326, PMCID: PMC6665682, DOI: 10.1002/aur.2051.Peer-Reviewed Original ResearchConceptsResting-state functional connectivity differencesAutism spectrum disorderHuman amygdalaRight middle temporal gyrusFunctional connectivity differencesHigher functional connectivityEarly postnatal stagesNumerous neurodevelopmental disordersMiddle temporal gyrusGC genotypeBrain trajectoriesRisk genotypesSocial deficitsConnectivity differencesAmygdalaTemporal gyrusFunctional connectivityBrain connectivityPostnatal stagesTime pointsNeurodevelopmental disordersMiceCritical time pointsMultimodal approachPossible alterations
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