2024
Elevated antibody binding to striatal cholinergic interneurons in patients with pediatric acute-onset neuropsychiatric syndrome
Xu J, Frankovich J, Liu R, Thienemann M, Silverman M, Farhadian B, Willett T, Manko C, Columbo L, Leibold C, Vaccarino F, Che A, Pittenger C. Elevated antibody binding to striatal cholinergic interneurons in patients with pediatric acute-onset neuropsychiatric syndrome. Brain Behavior And Immunity 2024, 122: 241-255. PMID: 39084540, PMCID: PMC11569416, DOI: 10.1016/j.bbi.2024.07.044.Peer-Reviewed Original ResearchPediatric Autoimmune Neuropsychiatric Disorders Associated with StreptococcusPediatric acute-onset neuropsychiatric syndromeStriatal cholinergic interneuronsCholinergic interneuronsObsessive-compulsive symptomsModulate basal ganglia functionNeuropsychiatric syndromeSignificant obsessive-compulsive symptomsBasal ganglia functionEx vivo brain slicesSevere food restrictionElevated antibodiesClinical historyPatient plasmaNeuropsychiatric manifestationsStreptococcus infectionBrain slicesSymptom flaresControl plasmaFood restrictionSerum antibodiesHuman brainInfectionAbrupt onsetClinical context
2021
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia
Zhu X, Zhou B, Pattni R, Gleason K, Tan C, Kalinowski A, Sloan S, Fiston-Lavier AS, Mariani J, Petrov D, Barres BA, Duncan L, Abyzov A, Vogel H, Moran J, Vaccarino F, Tamminga C, Levinson D, Urban A. Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia. Nature Neuroscience 2021, 24: 186-196. PMID: 33432196, PMCID: PMC8806165, DOI: 10.1038/s41593-020-00767-4.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultCation Transport ProteinsEmbryonic DevelopmentFemaleGenomeHeLa CellsHigh-Throughput Nucleotide SequencingHumansLong Interspersed Nucleotide ElementsMachine LearningMental DisordersMutagenesis, InsertionalNeurogliaNeuronsPregnancyRetroelementsSchizophreniaConceptsBrain developmentPossible pathological effectsAnatomical distributionBilateral distributionHuman neuronsNervous systemHuman nervous systemNeuropsychiatric diseasesNeuropsychiatric disordersGliaPathological effectsNeuronsSomatic L1 insertionsWhole-genome sequencingHuman brainSomatic retrotransposition
2020
Complex mosaic structural variations in human fetal brains
Sekar S, Tomasini L, Proukakis C, Bae T, Manlove L, Jang Y, Scuderi S, Zhou B, Kalyva M, Amiri A, Mariani J, Sedlazeck F, Urban AE, Vaccarino F, Abyzov A. Complex mosaic structural variations in human fetal brains. Genome Research 2020, 30: gr.262667.120. PMID: 33122304, PMCID: PMC7706730, DOI: 10.1101/gr.262667.120.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsCopy number variantsStructural variantsMegabase-scale copy number variantsHuman fetal brainFunctional consequencesMobile element insertionsSimilar functional consequencesFetal brainMosaic single-nucleotide variantsAdult brain neuronsStructural variationsPotential functional consequencesKilobase scaleDNA eventsGenomic fragmentDifferent chromosomesElement insertionsClonal approachHuman brain cellsFetal human brainNucleotide variantsReplication errorsHuman brainNumber variants
2017
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis
Bae T, Tomasini L, Mariani J, Zhou B, Roychowdhury T, Franjic D, Pletikos M, Pattni R, Chen BJ, Venturini E, Riley-Gillis B, Sestan N, Urban AE, Abyzov A, Vaccarino FM. Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis. Science 2017, 359: 550-555. PMID: 29217587, PMCID: PMC6311130, DOI: 10.1126/science.aan8690.Peer-Reviewed Original ResearchConceptsSingle nucleotide variationsMutation rateCancer cell genomeClonal cell populationsCell genomeCell lineagesBackground mutagenesisHuman cellsMutational rateSomatic mosaicismSingle cellsOxidative damageGenomeMutagenesisCell populationsMutation spectrumNeurogenesisCellsHuman fetusesIndividual neuronsLineagesPregastrulationHuman brainBrainMutations
2012
Age-related changes of gene expression in the neocortex: Preliminary data on RNA-Seq of the transcriptome in three functionally distinct cortical areas
Naumova OY, Palejev D, Vlasova NV, Lee M, Rychkov SY, Babich ON, Vaccarino F, Grigorenko EL. Age-related changes of gene expression in the neocortex: Preliminary data on RNA-Seq of the transcriptome in three functionally distinct cortical areas. Development And Psychopathology 2012, 24: 1427-1442. PMID: 23062308, PMCID: PMC3539811, DOI: 10.1017/s0954579412000818.Peer-Reviewed Original ResearchConceptsRNA-seqGene expressionAge-related transcriptional changesGene expression profilingCortical areasTranscriptional changesMolecular mechanismsTranscriptomeCentral nervous systemDistinct cortical areasAge-related changesDifferent cellsElderly individualsNervous systemExpressionAge-related variabilityNerve impulsesBrainPreliminary dataNeocortexHuman brainDevelopmental changesDifferent agesDistinct areasDifferentiation