2020
De novo damaging variants associated with congenital heart diseases contribute to the connectome
Ji W, Ferdman D, Copel J, Scheinost D, Shabanova V, Brueckner M, Khokha MK, Ment LR. De novo damaging variants associated with congenital heart diseases contribute to the connectome. Scientific Reports 2020, 10: 7046. PMID: 32341405, PMCID: PMC7184603, DOI: 10.1038/s41598-020-63928-2.Peer-Reviewed Original ResearchMeSH KeywordsConnectomeDNA HelicasesDNA-Binding ProteinsExomeFemaleHeart Defects, CongenitalHistone-Lysine N-MethyltransferaseHomeodomain ProteinsHumansMaleMi-2 Nucleosome Remodeling and Deacetylase ComplexMutationMutation, MissenseMyeloid-Lymphoid Leukemia ProteinNerve Tissue ProteinsProtein Tyrosine Phosphatase, Non-Receptor Type 11Receptor, Notch1ConceptsDe novo variantsNDD genesCardiac patterningDe novo damaging variantsDamaging de novo variantsCHD genesDamaging variantsGenesProtein truncatingGenetic originNovo variantsGene mutationsPatterningRecent studiesDendritic developmentVariantsMutationsNeurogenesisSynaptogenesisBonferroni correction
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
2008
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics 2008, 40: 592-599. PMID: 18391953, PMCID: PMC3766631, DOI: 10.1038/ng.118.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceAmino Acid SubstitutionBlood PressureCohort StudiesFemaleHeterozygoteHumansHypertensionKidneyMaleMiddle AgedMolecular Sequence DataMutationPotassium Channels, Inwardly RectifyingPrevalenceReceptors, DrugSodium ChlorideSodium-Potassium-Chloride SymportersSolute Carrier Family 12, Member 1Solute Carrier Family 12, Member 3SymportersConceptsIndependent mutationsCommon complex traitsCommon complex diseasesRare recessive diseaseBlood pressure variationComparative genomicsGenetic architectureComplex traitsFramingham Heart StudyTrait lociEffects of allelesRare allelesSignificant blood pressure reductionComplex diseasesBlood pressure reductionCommon variantsDevelopment of hypertensionMutationsAllelesGenesBlood pressureRisk allelesRenal saltRecessive diseaseGeneral population