2024
CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow
Kim A, Sakin I, Viviano S, Tuncel G, Aguilera S, Goles G, Jeffries L, Ji W, Lakhani S, Kose C, Silan F, Oner S, Kaplan O, Group M, Ergoren M, Mishra-Gorur K, Gunel M, Sag S, Temel S, Deniz E. CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow. Life Science Alliance 2024, 7: e202402708. PMID: 39168639, PMCID: PMC11339347, DOI: 10.26508/lsa.202402708.Peer-Reviewed Original ResearchConceptsDevelopmental disabilitiesIntellectual disabilityPatient-derived fibroblastsMidbrain regionsBrain developmentDefective ciliogenesisCSF circulationDisabilityCSF flowAbnormal CSF flowNervous system developmentMutant tadpolesCiliated tissuesMultiple model systemsVariant functionPronephric ductUnrelated familiesCC2D1AExpression patternsCiliogenesisRenal dysplasiaLeft-right organizerFunctional analysisDisease mechanismsBrainEffects of gestational hypothyroidism on mouse brain development: Gabaergic systems and oxidative stress
da Cunha Menezes E, de Abreu F, Davis J, Maurer S, Roshko V, Richardson A, Dowell J, Cassella S, Stevens H. Effects of gestational hypothyroidism on mouse brain development: Gabaergic systems and oxidative stress. Developmental Biology 2024, 515: 112-120. PMID: 39048051, PMCID: PMC11330572, DOI: 10.1016/j.ydbio.2024.07.010.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainCell MovementFemaleGABAergic NeuronsGene Expression Regulation, DevelopmentalGlutamate DecarboxylaseGlutathione PeroxidaseGlutathione Peroxidase GPX1HypothyroidismMaleMethimazoleMiceNF-E2-Related Factor 2Oxidative StressPlacentaPregnancyPrenatal Exposure Delayed EffectsThyroid HormonesConceptsGestational hypothyroidismGABAergic system developmentMaternal thyroid hormone supplyThyroid hormone supplyCortical GABAergic interneuronsMaternal thyroid hormonesGene expressionCD-1 miceCentral nervous system developmentEmbryonic day 9Central nervous systemIntrauterine restrictionGABAergic interneuronsGABAergic systemGPx1 gene expressionBrain gene expressionMouse brain developmentCD-1HypothyroidismEmbryonic dayNervous system developmentThyroid hormonesRisk factorsNeural system developmentHormonal imbalanceMIF contribution to progressive brain diseases
Matejuk A, Benedek G, Bucala R, Matejuk S, Offner H, Vandenbark A. MIF contribution to progressive brain diseases. Journal Of Neuroinflammation 2024, 21: 8. PMID: 38178143, PMCID: PMC10765708, DOI: 10.1186/s12974-023-02993-6.Peer-Reviewed Original ResearchConceptsBrain diseasesMultiple sclerosisAlzheimer's diseaseMacrophage migration inhibitory factorModulation of neuroinflammationNumerous neurologic diseasesMigration inhibitory factorProgressive brain diseaseNew therapeutic strategiesInflammatory mediatorsChronic inflammationAutoimmune diseasesVascular diseaseNervous system developmentNeurologic diseaseNeuroendocrine functionPsychiatric disordersTherapeutic strategiesEconomic burdenNeurological diseasesNew biomarkersInhibitory factorNeurodegenerative pathologiesDiseaseNovel therapeutics
2023
Leveraging GWAS data derived from a large cooperative group trial to assess the risk of taxane-induced peripheral neuropathy (TIPN) in patients being treated for breast cancer: Part 2—functional implications of a SNP cluster associated with TIPN risk in patients being treated for breast cancer
Lustberg M, Wu X, Fernández-Martínez J, de Andrés-Galiana E, Philips S, Leibowitz J, Schneider B, Sonis S. Leveraging GWAS data derived from a large cooperative group trial to assess the risk of taxane-induced peripheral neuropathy (TIPN) in patients being treated for breast cancer: Part 2—functional implications of a SNP cluster associated with TIPN risk in patients being treated for breast cancer. Supportive Care In Cancer 2023, 31: 178. PMID: 36809570, PMCID: PMC11344472, DOI: 10.1007/s00520-023-07617-6.Peer-Reviewed Original ResearchConceptsGWAS dataSNP clustersFunctional analysisGO termsNon-protein coding genesGene Ontology termsGene Set Enrichment AnalysisCluster of SNPsNervous system developmentCoding genesRetinoic acid bindingOntology termsProtein kinase C bindingEnrichment analysisMetabolic processesGenesAcid bindingGlycosyltransferase activitySNPsPathological implicationsGWASC bindingGene signaturePhenotypeTransferase activityCpH methylome analysis in human cortical neurons identifies novel gene pathways and drug targets for opioid use disorder
Nagamatsu S, Rompala G, Hurd Y, Núñez-Rios D, Montalvo-Ortiz J, Group T, Alvarez V, Benedek D, Che A, Cruz D, Davis D, Girgenti M, Hoffman E, Holtzheimer P, Huber B, Kaye A, Krystal J, Labadorf A, Keane T, Logue M, McKee A, Marx B, Mash D, Miller M, Noller C, JM-O, Scott W, Schnurr P, Stein T, Ursano R, Williamson D, Wolf E, Young K. CpH methylome analysis in human cortical neurons identifies novel gene pathways and drug targets for opioid use disorder. Frontiers In Psychiatry 2023, 13: 1078894. PMID: 36745154, PMCID: PMC9892724, DOI: 10.3389/fpsyt.2022.1078894.Peer-Reviewed Original ResearchOpioid use disorderOrbital frontal cortexDNA methylationKEGG enrichment analysisUse disordersMCPH lociTreatment of OUDGene OntologyEnrichment analysisOpioid-related drugsCpG sitesDrug targetsOxidative bisulfite sequencingImportant biological pathwaysDrug interaction analysisDrug-gene interaction databaseNervous system developmentSmoking statusBrain BankCortical neuronsFrontal cortexNeuronal nucleiHuman studiesGene regulationMethylome analysis
2022
Genetic liability to suicidal thoughts and behaviors and risk of suicide attempt in US military veterans: moderating effects of cumulative trauma burden
Nichter B, Koller D, De Angelis F, Wang J, Girgenti M, Na P, Hill M, Norman S, Krystal J, Gelernter J, Polimanti R, Pietrzak R. Genetic liability to suicidal thoughts and behaviors and risk of suicide attempt in US military veterans: moderating effects of cumulative trauma burden. Psychological Medicine 2022, 53: 6325-6333. PMID: 36444557, DOI: 10.1017/s0033291722003646.Peer-Reviewed Original ResearchConceptsPolygenic risk scoresUS military veteransLifetime suicide attemptsSuicide attemptsTrauma exposureTrauma burdenGenetic liabilityMilitary veteransDrug repurposing analysisPopulation-based sampleCumulative trauma exposureLifetime trauma exposureLow trauma exposureSuicide prediction modelsChronic inflammationInflammatory processNervous system developmentRisk scorePsychiatric characteristicsSuicidal behaviorExposure interactionsLarge genome-wide association studiesHigh levelsVeteransSuicidalityA nomenclature consensus for nervous system organoids and assembloids
Pașca SP, Arlotta P, Bateup HS, Camp JG, Cappello S, Gage FH, Knoblich JA, Kriegstein AR, Lancaster MA, Ming GL, Muotri AR, Park IH, Reiner O, Song H, Studer L, Temple S, Testa G, Treutlein B, Vaccarino FM. A nomenclature consensus for nervous system organoids and assembloids. Nature 2022, 609: 907-910. PMID: 36171373, PMCID: PMC10571504, DOI: 10.1038/s41586-022-05219-6.Peer-Reviewed Original Research
2021
Comparative Milestones in Rodent and Human Postnatal Central Nervous System Development
Zeiss CJ. Comparative Milestones in Rodent and Human Postnatal Central Nervous System Development. Toxicologic Pathology 2021, 49: 1368-1373. PMID: 34569375, DOI: 10.1177/01926233211046933.Peer-Reviewed Original ResearchConceptsPostnatal developmentCentral nervous system immaturityPostnatal central nervous system developmentRodent olfactory bulbCentral nervous system developmentRodent brain developmentPostnatal injuryDentate gyrusPostnatal neurogenesisNervous system developmentOlfactory bulbSynaptic maturationSynaptic pruningNeurodevelopmental toxicityGuinea pigsBrain developmentAltricial rodentsCNS developmentPrecocial guinea pigCerebellar developmentRodentsRatsMyelinationNeurogenesisBirthMultivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction
Karlsson Linnér R, Mallard TT, Barr PB, Sanchez-Roige S, Madole JW, Driver MN, Poore HE, de Vlaming R, Grotzinger AD, Tielbeek JJ, Johnson EC, Liu M, Rosenthal SB, Ideker T, Zhou H, Kember RL, Pasman JA, Verweij KJH, Liu DJ, Vrieze S, Kranzler H, Gelernter J, Harris K, Tucker-Drob E, Waldman I, Palmer A, Harden K, Koellinger P, Dick D. Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction. Nature Neuroscience 2021, 24: 1367-1376. PMID: 34446935, PMCID: PMC8484054, DOI: 10.1038/s41593-021-00908-3.Peer-Reviewed Original ResearchMeSH KeywordsAttention Deficit Disorder with HyperactivityBehavior, AddictiveBehavioral SymptomsComputational BiologyCrimeGenetic Association StudiesGenome-Wide Association StudyHIV InfectionsHumansMeta-Analysis as TopicMultifactorial InheritanceMultivariate AnalysisOpioid-Related DisordersReproducibility of ResultsSelf-ControlSuicideUnemploymentDisruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons
Runge K, Mathieu R, Bugeon S, Lafi S, Beurrier C, Sahu S, Schaller F, Loubat A, Herault L, Gaillard S, Pallesi-Pocachard E, Montheil A, Bosio A, Rosenfeld JA, Hudson E, Lindstrom K, Mercimek-Andrews S, Jeffries L, van Haeringen A, Vanakker O, Van Hecke A, Amrom D, Küry S, Ratner C, Jethva R, Gamble C, Jacq B, Fasano L, Santpere G, Lorente-Galdos B, Sestan N, Gelot A, Giacuzz S, Goebbels S, Represa A, Cardoso C, Cremer H, de Chevigny A. Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons. Molecular Psychiatry 2021, 26: 6125-6148. PMID: 34188164, PMCID: PMC8760061, DOI: 10.1038/s41380-021-01179-x.Peer-Reviewed Original ResearchConceptsLayer 5 neuronsKO miceForebrain glutamatergic neuronsTranscription factor NeuroD2Forebrain excitatory neuronsNeurodevelopmental disordersAutism spectrum disorderCortical projection neuronsPatch-clamp recordingsIntellectual disabilitySocial interaction deficitsSpontaneous seizuresCerebral cortexGlutamatergic neuronsSpine densityProjection neuronsIntrinsic excitabilityNervous system developmentNeuronal excitabilityExcitatory neuronsJuvenile miceBulk RNA sequencingSynaptic functionNeurobehavioral featuresDysregulated expressionMaternal blood metal concentrations and whole blood DNA methylation during pregnancy in the Early Autism Risk Longitudinal Investigation (EARLI)
Aung M, Bakulski K, Feinberg J, Dou J, Meeker J, Mukherjee B, Loch-Caruso R, Ladd-Acosta C, Volk H, Croen L, Hertz-Picciotto I, Newschaffer C, Fallin M. Maternal blood metal concentrations and whole blood DNA methylation during pregnancy in the Early Autism Risk Longitudinal Investigation (EARLI). Epigenetics 2021, 17: 253-268. PMID: 33794742, PMCID: PMC8920182, DOI: 10.1080/15592294.2021.1897059.Peer-Reviewed Original ResearchConceptsBlood metal concentrationsDNA methylation sitesDNA methylationMetal concentrationsWhole blood DNA methylationK arrayMethylation sitesBlood DNA methylationIllumina 450K arrayGene ontology analysisPotential biomarkers of exposurePrenatal metal exposureCellular metabolic pathwaysDownstream gene pathwaysCell type compositionCalcium ion bindingEarly Autism Risk Longitudinal InvestigationBiomarkers of exposureInductively coupled plasma mass spectrometryNervous system developmentAssociated with hypermethylationMetal exposureIndividual metalsPlasma mass spectrometryOntology analysis
2020
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence
Mis EK, Al‐Ali S, Ji W, Spencer‐Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence. American Journal Of Medical Genetics Part A 2020, 182: 2291-2296. PMID: 32812332, DOI: 10.1002/ajmg.a.61783.Peer-Reviewed Original ResearchConceptsFetal akinesia deformation sequenceArthrogryposis multiplex congenitaCohort of patientsScope of illnessPulmonary hypoplasiaAdditional patientsClinical featuresNeonatal supportNervous system developmentMultiplex congenitaCongenital contracturesPatientsHeterogenous conditionRecessive variantsPatient variantsFunctional evidenceCohortNovel variantsContractureFunctional dataSyndromeHypoplasiaIllnessVariantsFindingsThe evolution of the human brain and disease susceptibility
Pattabiraman K, Muchnik SK, Sestan N. The evolution of the human brain and disease susceptibility. Current Opinion In Genetics & Development 2020, 65: 91-97. PMID: 32629339, DOI: 10.1016/j.gde.2020.05.004.Peer-Reviewed Original ResearchConceptsGene expression patternsField of evolutionDisease risk genesNervous system developmentExtant speciesGene regulationEvolutionary changeExtinct ancestorsExpression patternsGenetic studiesMetabolic processesHuman-specific aspectsRisk genesCell typesHuman biologyEvolutionary perspectiveDisease susceptibilityNeurodegenerative disease riskNeurodegenerative diseasesDifficult hypothesisComplex processGenomicsAncestorEvolutionGenesShootin‐1 is required for nervous system development in zebrafish
Emerson S, Stergas H, Bupp‐Chickering S, Ebert A. Shootin‐1 is required for nervous system development in zebrafish. Developmental Dynamics 2020, 249: 1285-1295. PMID: 32406957, DOI: 10.1002/dvdy.194.Peer-Reviewed Original ResearchConceptsNervous system developmentLoss of repressionShootin-1Peripheral nervous systemRepulsive axon guidance cuesDownstream signaling mechanismsPhenotypic consequencesNervous systemAxon guidance cuesNeuronal polarityPatterning defectsMicroarray screeningRetinal pigment epitheliumCell migrationGuidance cuesSignaling mechanismsFunctional roleImpaired migrationPLXNA2RepressionPigment epitheliumOptic vesiclePathfinding errorsZebrafishRegulation
2019
aPKC in neuronal differentiation, maturation and function
Hapak SM, Rothlin CV, Ghosh S. aPKC in neuronal differentiation, maturation and function. Neuronal Signaling 2019, 3: ns20190019. PMID: 32269838, PMCID: PMC7104321, DOI: 10.1042/ns20190019.BooksProtein kinase C (PKC) familyAtypical protein kinase CsProtein kinase CsKey metabolic functionsNervous system developmentHuman neuropsychiatric diseasesC familyCellular responsesAPKCsNeural developmentNeuronal differentiationFunctional roleMetabolic functionsNervous systemNeuronal maturationNeuronal functionGenetic deletionKinaseGlucose uptakeDifferentiationLikely candidateMaturationNeuropsychiatric diseasesSubfamiliesPRKCIThe Notch pathway in CNS homeostasis and neurodegeneration
Ho DM, Artavanis‐Tsakonas S, Louvi A. The Notch pathway in CNS homeostasis and neurodegeneration. WIREs Mechanisms Of Disease 2019, 9: e358. PMID: 31502763, DOI: 10.1002/wdev.358.Peer-Reviewed Original ResearchConceptsNervous system developmentCNS homeostasisNotch pathway activityNeurodegenerative diseasesCerebral autosomal dominant arteriopathyAcute brain traumaChronic neurodegenerative conditionsProgressive neurodegenerative diseaseAutosomal dominant arteriopathyCellular contextCentral nervous systemAmyotrophic lateral sclerosisNotch signalsAdult organismNotch activityNotch pathwayNeural developmentMultiple sclerosisAdult neurogenesisBrain traumaPathway activitySubcortical infarctsLateral sclerosisNOTCH3 mutationsHereditary stroke
2018
Spatiotemporal transcriptomic divergence across human and macaque brain development
Zhu Y, Sousa AMM, Gao T, Skarica M, Li M, Santpere G, Esteller-Cucala P, Juan D, Ferrández-Peral L, Gulden FO, Yang M, Miller DJ, Marques-Bonet T, Imamura Kawasawa Y, Zhao H, Sestan N. Spatiotemporal transcriptomic divergence across human and macaque brain development. Science 2018, 362 PMID: 30545855, PMCID: PMC6900982, DOI: 10.1126/science.aat8077.Peer-Reviewed Original ResearchConceptsBrain developmentHuman nervous system developmentHuman brain developmentNervous system developmentPostnatal patternSingle-cell transcriptomic dataSpatiotemporal transcriptional regulationBrain regionsNeuropsychiatric disordersLate fetalPrefrontal cortexTranscriptomic programsHuman dataTranscriptomic divergenceTranscriptional regulationTranscriptomic differencesAutism spectrum disorderTranscriptomic dataDisordersTranscriptomic patternsSpectrum disorderIntegrative analysisPathogenesisCharacterization of the lncRNA transcriptome in mESC-derived motor neurons: Implications for FUS-ALS
Biscarini S, Capauto D, Peruzzi G, Lu L, Colantoni A, Santini T, Shneider NA, Caffarelli E, Laneve P, Bozzoni I. Characterization of the lncRNA transcriptome in mESC-derived motor neurons: Implications for FUS-ALS. Stem Cell Research 2018, 27: 172-179. PMID: 29449089, DOI: 10.1016/j.scr.2018.01.037.Peer-Reviewed Original ResearchConceptsLong non-coding transcriptomeMouse motor neuronsAmyotrophic lateral sclerosisNon-coding transcriptomeMotor neuronsSevere amyotrophic lateral sclerosisAberrant RNA metabolismLong non-coding RNAsStem cellsEmbryonic stem cellsNon-coding RNAsInduced pluripotent stem cellsNervous system developmentPluripotent stem cellsRNA metabolismLncRNA transcriptomeDifferentiation systemLateral sclerosisTDP-43TranscriptomeFUS-ALSCandidate lncRNAsCrucial playersCausative mutationsEssential role
2017
Family-based association analysis of NAV2 gene with the risk and age at onset of Alzheimer's disease
Wang KS, Liu Y, Xu C, Liu X, Luo X. Family-based association analysis of NAV2 gene with the risk and age at onset of Alzheimer's disease. Journal Of Neuroimmunology 2017, 310: 60-65. PMID: 28778446, PMCID: PMC6167010, DOI: 10.1016/j.jneuroim.2017.06.010.Peer-Reviewed Original ResearchConceptsRisk of ADAlzheimer's diseaseSingle nucleotide polymorphismsAAO of ADHuman brain regionsNervous system developmentApoE expressionOnset (AAO) of ADBrain regionsDiseaseSignificant expressionRiskMarker analysisGenetic variantsAssociationFamily-based association analysisHaplotype analysisPresent studyEquation statisticsAgeFirst studyOnsetFamily-based associationFamily-based sampleExpressionWidespread signatures of positive selection in common risk alleles associated to autism spectrum disorder
Polimanti R, Gelernter J. Widespread signatures of positive selection in common risk alleles associated to autism spectrum disorder. PLOS Genetics 2017, 13: e1006618. PMID: 28187187, PMCID: PMC5328401, DOI: 10.1371/journal.pgen.1006618.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderBipolar DisorderBrainComputational BiologyDepressive Disorder, MajorGene Expression ProfilingGene OntologyGene Regulatory NetworksGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsHumansPituitary GlandPolymorphism, Single NucleotideRisk FactorsSchizophreniaTranscriptomeConceptsPositive selectionGene Ontology enrichmentGene expression enrichmentPrevious genetic studiesGWAS summary statisticsNervous system developmentCommon risk allelesPsychiatric Genomics ConsortiumSystems geneticsOntology enrichmentRisk allelesSynapse organizationWidespread signaturesEvolutionary processesGenetic studiesGenomics ConsortiumGWASHuman evolutionAllelesIncomplete selectionEffect directionMinor alleleComplete selectionEnrichmentSummary statistics
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