2025
Molecular hallmarks of hydrocephalus
Hale A, Zhou B, Rajan A, Duy P, Goolam M, Alper S, Lehtinen M, Lancaster M, Fame R, Kahle K. Molecular hallmarks of hydrocephalus. Science Translational Medicine 2025, 17: eadq1810. PMID: 40465691, DOI: 10.1126/scitranslmed.adq1810.Peer-Reviewed Original ResearchConceptsCerebrospinal fluidBrain-CSF interfacePluripotent stem cell-derived cerebral organoidsStem cell dysfunctionAssociated with dilatationDisrupts synaptogenesisNeural stem cell dysfunctionMolecular classificationPharmacological treatmentCell dysfunctionImpaired neurogenesisBiomechanical instabilityHC subtypesGenome-widePleiotropic mechanismsCSF dynamicsNeural circuitryHydrocephalusEnvironmental insultsCerebral organoidsNeurodevelopmental comorbidities
2024
Olfactory Development and Dysfunction: Involvement of Microglia
Meller S, Greer C. Olfactory Development and Dysfunction: Involvement of Microglia. Physiology 2024, 40: 174-184. PMID: 39499248, PMCID: PMC12183649, DOI: 10.1152/physiol.00037.2024.Peer-Reviewed Original ResearchInvolvement of microgliaPotential involvement of microgliaOlfactory developmentImmune responseOlfactory deficitsEnvironmental insultsResponse to environmental insultsMicroglia-mediated immune responseOlfactory lossOlfactory systemPeriod of neurogenesisNeuronal migrationPotential involvementMicrogliaDiseaseViral diseasesInsultOlfactoryDeficits
2023
Clinical features in adults with acquired cutis laxa: a retrospective review
O’Connell K, Schaefer M, Atzmony L, Vleugels R, Choate K, LaChance A, Min M. Clinical features in adults with acquired cutis laxa: a retrospective review. British Journal Of Dermatology 2023, 188: 800-816. PMID: 36849736, PMCID: PMC10230959, DOI: 10.1093/bjd/ljad043.Peer-Reviewed Original ResearchConceptsAcquired cutis laxaCutis laxaThorough systemic investigationRare dermatological conditionMedication exposureAdult patientsRetrospective reviewPatient historyDermatological conditionsGenetic predispositionGenetic mutationsPatientsSystemic investigationEnvironmental insultsExposureComorbiditiesEtiologyInsultLaxaSymptomatology
2022
Unusual Molecular Regulation of Dorsolateral Prefrontal Cortex Layer III Synapses Increases Vulnerability to Genetic and Environmental Insults in Schizophrenia
Arnsten AFT, Woo E, Yang S, Wang M, Datta D. Unusual Molecular Regulation of Dorsolateral Prefrontal Cortex Layer III Synapses Increases Vulnerability to Genetic and Environmental Insults in Schizophrenia. Biological Psychiatry 2022, 92: 480-490. PMID: 35305820, PMCID: PMC9372235, DOI: 10.1016/j.biopsych.2022.02.003.Peer-Reviewed Original ResearchConceptsEnvironmental insultsMore superficial layersDorsolateral prefrontal cortexPrimate dlPFCInflammatory mechanismsInflammatory insultKynurenic acidNMDA receptorsReceptor neurotransmissionDendritic spinesLayer IIICAMP/PKAGlutamatergic synapsePrefrontal cortexInsultPotassium channelsNeurotransmissionCalcium signalingSynapsesGenetic insultsSuperficial layersSchizophreniaSpineCortexNeuromodulationInhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism
Tzanoulinou S, Musardo S, Contestabile A, Bariselli S, Casarotto G, Magrinelli E, Jiang YH, Jabaudon D, Bellone C. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular Psychiatry 2022, 27: 2080-2094. PMID: 35022531, PMCID: PMC9126815, DOI: 10.1038/s41380-021-01427-0.Peer-Reviewed Original ResearchConceptsAcute inflammatory responseInflammatory responseSHANK3 geneTransient receptor potential vanilloid 4Shank3 mouse modelAutism spectrum disorderGenetic risk factorsInhibition of TRPV4Ex vivo approachNeuron hyperexcitabilityRisk factorsBehavioral deficitsNucleus accumbensMouse modelTRPV4 inhibitionBehavioral alterationsSocial deficitsSHANK3 mutationsCircuit mechanismsNeurodevelopmental diseasesGenetic alterationsTypes of mutationsHeterozygous deletionIdiopathic autismEnvironmental insults
2021
Skin-resident immune cells actively coordinate their distribution with epidermal cells during homeostasis
Park S, Matte-Martone C, Gonzalez DG, Lathrop EA, May DP, Pineda CM, Moore JL, Boucher JD, Marsh E, Schmitter-Sánchez A, Cockburn K, Markova O, Bellaïche Y, Greco V. Skin-resident immune cells actively coordinate their distribution with epidermal cells during homeostasis. Nature Cell Biology 2021, 23: 476-484. PMID: 33958758, PMCID: PMC8603572, DOI: 10.1038/s41556-021-00670-5.Peer-Reviewed Original ResearchConceptsDendritic epidermal T cellsLangerhans cellsCell typesEpithelial cellsDifferent cell typesMultiple cell typesLive adult miceGTPase Rac1Skin-resident immune cellsNon-random spatial distributionDistribution of LCContinuous turnoverEpidermal cellsEpidermal T cellsIndividual cellsCellular mechanismsEnvironmental insultsHomeostasisBasal epithelial cellsImmune cellsT cellsAdult miceCellsProper architectureEpidermis
2020
Flow Cytometric Analyses of p53-Mediated Cell Cycle Arrest and Apoptosis in Cancer Cells
Al Zouabi NN, Roberts CM, Lin ZP, Ratner ES. Flow Cytometric Analyses of p53-Mediated Cell Cycle Arrest and Apoptosis in Cancer Cells. Methods In Molecular Biology 2020, 2255: 43-53. PMID: 34033093, DOI: 10.1007/978-1-0716-1162-3_5.Peer-Reviewed Original ResearchConceptsGene of interestCell cycle arrestCycle arrestCell typesDNA damaging agentsP53-mediated cell cycle arrestCell cycle progressionTumor suppressor p53Cellular contextEctopic expressionExogenous stressCell cycle distributionDamaging agentsCycle progressionTumor suppressorSuppressor p53Stable expressionPhenotypic analysisCell survivalCell deathGenomic damageP53 functionGenesEnvironmental insultsCycle distributionMorphea after Borrelia-induced facial nerve palsy
Xie CB, Cowper S, Odell ID. Morphea after Borrelia-induced facial nerve palsy. Journal Of Scleroderma And Related Disorders 2020, 6: 111-113. PMID: 35382252, PMCID: PMC8922639, DOI: 10.1177/2397198320956892.Peer-Reviewed Case Reports and Technical NotesFacial nerve palsyNerve palsyDevelopment of morpheaLocal immune toleranceFacial nerve paralysisAutoimmune phenomenaMost patientsNerve paralysisExact pathogenesisImmune toleranceAutoimmune diseasesHost antigensLocalized sclerodermaCommon causeFamily historyMorpheaEndemic areasGenetic predispositionPrevious episodesPalsyYoung menPrevious casesEnvironmental insultsInfectionBorrelia
2019
Hearing consequences in Gjb2 knock-in mice: implications for human p.V37I mutation
Lin X, Li G, Zhang Y, Zhao J, Lu J, Gao Y, Liu H, Li G, Yang T, Song L, Wu H. Hearing consequences in Gjb2 knock-in mice: implications for human p.V37I mutation. Aging 2019, 11: 7416-7441. PMID: 31562289, PMCID: PMC6782001, DOI: 10.18632/aging.102246.Peer-Reviewed Original ResearchConceptsHomozygous miceLate-onset progressive hearing lossV37I mutationABR wave I latencySpiral ganglion neuron lossOuter hair cell functionSignificant hair cell lossMiddle ear injectionStria vascularis atrophyWave I latencyABR threshold elevationsProgressive hearing lossHair cell lossHair cell functionEnvironmental insultsI latencyNeuron lossCochlear pathologyHearing lossEar injectionMouse modelCell lossNoise exposureSystemic applicationThreshold elevationHepatic metabolic adaptation in a murine model of glutathione deficiency
Chen Y, Golla S, Garcia-Milian R, Thompson DC, Gonzalez FJ, Vasiliou V. Hepatic metabolic adaptation in a murine model of glutathione deficiency. Chemico-Biological Interactions 2019, 303: 1-6. PMID: 30794799, PMCID: PMC6743730, DOI: 10.1016/j.cbi.2019.02.015.Peer-Reviewed Original ResearchConceptsCellular non-protein thiolsMetabolic adaptationGlutamate-cysteine ligase modifier subunitNon-protein thiolsHepatic metabolic adaptationCellular redoxGlobal profilingGSH homeostasisModifier subunitLiver developmentBiochemical mechanismsMetabolic homeostasisAmino acidsGclm null miceDefense mechanismsEnvironmental insultsOxidative damageFatty liver developmentNull miceSpectrum of changesNucleic acidsMetabolic signaturesPivotal roleHomeostasisGlutathione deficiency
2017
Detection of vulnerable neurons damaged by environmental insults in utero
Torii M, Sasaki M, Chang YW, Ishii S, Waxman SG, Kocsis JD, Rakic P, Hashimoto-Torii K. Detection of vulnerable neurons damaged by environmental insults in utero. Proceedings Of The National Academy Of Sciences Of The United States Of America 2017, 114: 2367-2372. PMID: 28123061, PMCID: PMC5338500, DOI: 10.1073/pnas.1620641114.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCerebral CortexElectroporationEmbryo, MammalianEthanolFemaleFlow CytometryGene Expression RegulationGenes, ReporterHeat Shock Transcription FactorsHeat-Shock ResponseLuminescent ProteinsMiceMice, TransgenicNeuronsNicotinePlasmidsPregnancyPrenatal Exposure Delayed EffectsResponse ElementsSuraminConceptsTransgenic reporter miceHeat shock factor 1 (HSF1) activationPrenatal exposureVulnerable neuronsPrognostic biomarkerReporter miceSusceptible individualsPostnatal disordersPostnatal lifeMultiple disordersNeuronsReporter assaysCellular damageEnvironmental insultsMiceHarmful agentsDisordersExposureTreatmentPhysical agentsFluorescence reporter systemPathogenesisSymptomsUteroAgents
2015
Salmonella promotes virulence by repressing cellulose production
Pontes MH, Lee EJ, Choi J, Groisman EA. Salmonella promotes virulence by repressing cellulose production. Proceedings Of The National Academy Of Sciences Of The United States Of America 2015, 112: 5183-5188. PMID: 25848006, PMCID: PMC4413311, DOI: 10.1073/pnas.1500989112.Peer-Reviewed Original ResearchConceptsCellulose synthesisWild-type phenotypeWild-type virulenceSalmonella enterica serovar TyphimuriumCyclic diguanylateEnterica serovar TyphimuriumPathogen fitnessAbundant organic polymerMgtC geneAcute virulenceAllosteric activatorAbiotic surfacesMgtC mutantInside macrophagesMutantsVirulence determinantsSerovar TyphimuriumVirulenceCellulose productionEnvironmental insultsCellulose levelsBCSAAttenuated mutantsTraitsDiguanylate
2014
Roles of Heat Shock Factor 1 in Neuronal Response to Fetal Environmental Risks and Its Relevance to Brain Disorders
Hashimoto-Torii K, Torii M, Fujimoto M, Nakai A, Fatimy R, Mezger V, Ju MJ, Ishii S, Chao SH, Brennand KJ, Gage FH, Rakic P. Roles of Heat Shock Factor 1 in Neuronal Response to Fetal Environmental Risks and Its Relevance to Brain Disorders. Neuron 2014, 82: 560-572. PMID: 24726381, PMCID: PMC4051437, DOI: 10.1016/j.neuron.2014.03.002.Peer-Reviewed Original ResearchConceptsCerebral cortical cellsHuman neural progenitor cellsNeural progenitor cellsHeat shock factor 1Maternal seizuresSeizure susceptibilityPrenatal exposureNeuropsychiatric dysfunctionShock factor 1Neuronal responsesBrain cellsSchizophrenia patientsBrain disordersLate onsetMouse cortexStructural abnormalitiesNeuropsychiatric disordersHSF1 deficiencyExposure of embryosProgenitor cellsSubthreshold levelsFactor 1Induced pluripotent stem cellsEnvironmental insultsCortical cells
2011
Ultraviolet Radiation: Cellular Antioxidant Response and the Role of Ocular Aldehyde Dehydrogenase Enzymes
Marchitti SA, Chen Y, Thompson DC, Vasiliou V. Ultraviolet Radiation: Cellular Antioxidant Response and the Role of Ocular Aldehyde Dehydrogenase Enzymes. Eye & Contact Lens Science & Clinical Practice 2011, 37: 206-213. PMID: 21670692, PMCID: PMC3356694, DOI: 10.1097/icl.0b013e3182212642.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsReactive oxygen speciesCombat reactive oxygen speciesImportant enzymatic antioxidantsAldehyde dehydrogenaseReduction-oxidation homeostasisOxidative damageConstant oxidative stressAldehyde dehydrogenase enzymeCellular antioxidant responseOxidative stressUnique roleCellular membranesCellular responsesAntioxidant defense systemSuperoxide dismutasesAntioxidant responseEnvironmental insultsDownstream effectsDefense systemGlutathione reductaseEnzymatic antioxidantsOxygen speciesDehydrogenase enzymeNicotinamide adenine dinucleotide phosphateNonenzymatic antioxidants
2004
Nitric oxide modulates murine yolk sac vasculogenesis and rescues glucose induced vasculopathy
Nath AK, Enciso J, Kuniyasu M, Hao XY, Madri JA, Pinter E. Nitric oxide modulates murine yolk sac vasculogenesis and rescues glucose induced vasculopathy. Development 2004, 131: 2485-2496. PMID: 15128676, DOI: 10.1242/dev.01131.Peer-Reviewed Original ResearchConceptsVascular developmentReactive oxygen speciesYolk sac vasculogenesisMurine yolk sacYolk sacBlood island formationEnvironmental insultsNormal embryonic growthMurine embryo culturePreimplantation embryogenesisAbnormal vascular developmentGenetic manipulationDevelopmental arrestExpression patternsPostimplantation developmentNitric oxideEndodermal layerEmbryonic growthFunctional inactivationHigh glucoseROS productionRole of NOBlastocyst invasionProtein levelsEmbryo culture
1998
Brief Report: Association of Sex Chromosome Anomalies With Childhood-Onset Psychotic Disorders
KUMRA S, WIGGS E, KRASNEWICH D, MECK J, SMITH A, BEDWELL J, FERNANDEZ T, JACOBSEN L, LENANE M, RAPOPORT J. Brief Report: Association of Sex Chromosome Anomalies With Childhood-Onset Psychotic Disorders. Journal Of The American Academy Of Child & Adolescent Psychiatry 1998, 37: 292-296. PMID: 9519634, DOI: 10.1097/00004583-199803000-00014.Peer-Reviewed Original ResearchConceptsChildhood-onset schizophreniaPsychotic disordersPediatric patientsSex chromosome anomaliesSubgroup of patientsAdult-onset schizophreniaChromosome anomaliesLoss of balanceUnspecified psychosisTreatment trialsGeneral populationPatientsSex chromosome aneuploidyMental healthDisordersNational InstituteAffected individualsEnvironmental insultsCytogenetic screeningSchizophreniaChromosome aneuploidyChildrenClozapinePsychosisInsult
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