2025
Single-cell elderly blood–CSF atlas implicates peripherally influenced immune dysregulation in normal pressure hydrocephalus
Duy P, Kiziltug E, Greenberg A, Mehta N, Hao L, Fortes C, Mullany S, Fan B, Manichaikul A, Teich A, Chan D, Alper S, Hyman B, Arnold S, McKhann G, Frosch M, Kahle K. Single-cell elderly blood–CSF atlas implicates peripherally influenced immune dysregulation in normal pressure hydrocephalus. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2412159122. PMID: 40324076, PMCID: PMC12087963, DOI: 10.1073/pnas.2412159122.Peer-Reviewed Original ResearchConceptsIdiopathic normal pressure hydrocephalusNormal pressure hydrocephalusImmune dysregulationPeripheral bloodPressure hydrocephalusIdiopathic normal pressure hydrocephalus patientsProinflammatory alterationsVentricular CSFSingle-cell transcriptomicsINPH patientsCell populationsPatientsNeuroglial cellsCSFBloodHydrocephalusBaseline cognitive functionCognitive functionDysregulationMonocytesIdentification of post-translationally modified MHC class I-associated peptides as potential cancer immunotherapeutic targets
Mahoney K, Reser L, Ruiz Cuevas M, Abelin J, Shabanowitz J, Hunt D, Malaker S. Identification of post-translationally modified MHC class I-associated peptides as potential cancer immunotherapeutic targets. Molecular & Cellular Proteomics 2025, 100971. PMID: 40239839, DOI: 10.1016/j.mcpro.2025.100971.Peer-Reviewed Original ResearchCirculating cytotoxic T-cellsMHC class I processing pathwayClass I processing pathwayCancer immunotherapy targetCytotoxic T cellsCancer immunotherapeutic targetsVaccine development effortsModern immunotherapyImmunotherapy targetMHC-associated peptidesImmunotherapeutic targetT cellsMalignant cellsAntigen presentationAberrant signalingMHC-peptideMass spectrometry-based technologiesCancerMHCPost-translational modificationsDysregulationIdentification of post-translationallyPeptideImmunotherapyPathwayIdentification and comprehensive characterization of moral disapproval and behavioral dysregulation-based pornography-use profiles across 42 countries
Bőthe B, Tóth-Király I, Popova N, Nagy L, Koós M, Demetrovics Z, Potenza M, Kraus S, Ballester-Arnal R, Batthyány D, Bergeron S, Billieux J, Briken P, Burkauskas J, Cárdenas-López G, Carvalho J, Castro-Calvo J, Chen L, Ciocca G, Corazza O, Csako R, Czakó A, Fernandez D, Fernandez E, Fujiwara H, Fuss J, Gabrhelík R, Gewirtz-Meydan A, Gjoneska B, Gola M, Hashim H, Islam S, Ismail M, Jiménez-Martínez M, Jurin T, Kalina O, Klein V, Költő A, Lee C, Lee S, Lewczuk K, Lin C, Lochner C, López-Alvarado S, Lukavská K, Mayta-Tristán P, Miller D, Orosová O, Orosz G, Team S, Ponce F, Quintana G, Garzola G, Ramos-Diaz J, Rigaud K, Rousseau A, de Tubino Scanavino M, Schulmeyer M, Sharan P, Shibata M, Shoib, Sigre-Leirós V, Sniewski L, Spasovski O, Steibliene V, Stein D, Štulhofer A, Ünsal B, Vaillancourt-Morel M, Van Hout M, Grubbs J. Identification and comprehensive characterization of moral disapproval and behavioral dysregulation-based pornography-use profiles across 42 countries. Journal Of Behavioral Addictions 2025, 14: 131-154. PMID: 39945767, PMCID: PMC11974402, DOI: 10.1556/2006.2024.00054.Peer-Reviewed Original ResearchMultiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature
Bosticardo M, Dobbs K, Delmonte O, Martins A, Pala F, Kawai T, Kenney H, Magro G, Rosen L, Yamazaki Y, Yu H, Calzoni E, Lee Y, Liu C, Stoddard J, Niemela J, Fink D, Castagnoli R, Ramba M, Cheng A, Riley D, Oikonomou V, Shaw E, Belaid B, Keles S, Al-Herz W, Cancrini C, Cifaldi C, Baris S, Sharapova S, Schuetz C, Gennery A, Freeman A, Somech R, Choo S, Giliani S, Güngör T, Drozdov D, Meyts I, Moshous D, Neven B, Abraham R, El-Marsafy A, Kanariou M, King A, Licciardi F, Cruz-Muñoz M, Palma P, Poli C, Adeli M, Algeri M, Alroqi F, Bastard P, Bergerson J, Booth C, Brett A, Burns S, Butte M, Padem N, de la Morena M, Dbaibo G, de Ravin S, Dimitrova D, Djidjik R, Dorna M, Dutmer C, Elfeky R, Facchetti F, Fuleihan R, Geha R, Gonzalez-Granado L, Haljasmägi L, Ale H, Hayward A, Hifanova A, Ip W, Kaplan B, Kapoor N, Karakoc-Aydiner E, Kärner J, Keller M, Dávila Saldaña B, Kiykim A, Kuijpers T, Kuznetsova E, Latysheva E, Leiding J, Locatelli F, Alva-Lozada G, McCusker C, Celmeli F, Morsheimer M, Ozen A, Parvaneh N, Pasic S, Plebani A, Preece K, Prockop S, Sakovich I, Starkova E, Torgerson T, Verbsky J, Walter J, Ward B, Wisner E, Draper D, Myint-Hpu K, Truong P, Lionakis M, Similuk M, Walkiewicz M, Klion A, Holland S, Oguz C, Bogunovic D, Kisand K, Su H, Tsang J, Kuhns D, Villa A, Rosenzweig S, Pittaluga S, Notarangelo L, Ghosh R, Siefert B, Tokita M, Yan J, Jodarski C, Kamen M, Gore R, Reynolds-Lallement N, Lewis K, Bannon S, Borges A, Gentile N. Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature. Science Immunology 2025, 10: eadq1697. PMID: 39792639, PMCID: PMC12087669, DOI: 10.1126/sciimmunol.adq1697.Peer-Reviewed Original ResearchConceptsRAG deficiencyRecombination-activating geneImmune dysregulationInflammatory signaturePattern of immune dysregulationT helper 2B cell developmentType I interferonOmenn syndromeImmunological phenotypeImmune profileSelf-antigensB cellsClinical managementDefective TI interferonCellular indicesImmunopathologyPatientsMultiomics approachPhenotypeHypomorphic formDysregulationLineage-specific contributionsDeficiency
2024
Self-Compassion and Emotion Dysregulation Mediate the Effect of Stress Appraisals on Elder Abuse and Neglect Behaviors in Dementia Family Caregiving
Pickering C, Weiss N, Yildiz M, Sullivan T. Self-Compassion and Emotion Dysregulation Mediate the Effect of Stress Appraisals on Elder Abuse and Neglect Behaviors in Dementia Family Caregiving. The Journals Of Gerontology Series B 2024, 79: gbae138. PMID: 39136354, PMCID: PMC11439994, DOI: 10.1093/geronb/gbae138.Peer-Reviewed Original ResearchEmotion dysregulationSelf-compassionStress appraisalDementia family caregiversEffect of self-compassionEffects of stress appraisalsMediation of emotional dysregulationBetween-person levelMultilevel structural equation modelingNeglectful behaviorsModifiable intervention targetsEmotion (dys)regulationStructural equation modelingBehavioral symptomsMediation pathsBehavioral interventionsEfficacious interventionsIntervention targetsEmotionsFamily caregiversEquation modelingAbuseDysregulationDiary surveyCaregiversAdolescent Sleep as a Transdiagnostic Factor: Associations Between Actigraphy-Derived Night-to-Night Sleep Metrics and Adolescent Psychopathology
Phillips E, Goldberg E, Brock R, Hamburger E, Nelson J, Mason W, Espy K, Nelson T. Adolescent Sleep as a Transdiagnostic Factor: Associations Between Actigraphy-Derived Night-to-Night Sleep Metrics and Adolescent Psychopathology. JAACAP Open 2024 DOI: 10.1016/j.jaacop.2024.06.001.Peer-Reviewed Original ResearchMultilevel structural equation modelingBifactor S-1 modelIntraindividual variabilityModels of psychopathologySleep metricsSleep durationTransdiagnostic factorAdolescent psychopathologyEmotion dysregulationPsychopathologyStructural equation modelingGeneral factorPsychiatric problemsLatent meansAdolescent sleepNight sleep durationSocioeconomic riskResults ResultsEquation modelingAdolescentsSociodemographic variablesSleepPositive associationDysregulationBifactorDysregulated cellular metabolism in atherosclerosis: mediators and therapeutic opportunities
Stroope C, Nettersheim F, Coon B, Finney A, Schwartz M, Ley K, Rom O, Yurdagul A. Dysregulated cellular metabolism in atherosclerosis: mediators and therapeutic opportunities. Nature Metabolism 2024, 6: 617-638. PMID: 38532071, PMCID: PMC11055680, DOI: 10.1038/s42255-024-01015-w.Peer-Reviewed Original ResearchDysregulated cellular metabolismAtherosclerotic cardiovascular diseaseLesional cellsAtherosclerosis progressionCardiovascular diseaseDysregulation of cellular metabolismVascular smooth muscle cellsProgression of atherosclerotic cardiovascular diseaseSmooth muscle cellsCellular metabolismT cellsMetabolic alterationsMuscle cellsMetabolic dysregulationCardiovascular therapeuticsTherapeutic opportunitiesEndothelial cellsTherapeutic targetMetabolic cross-talkAtherosclerosisCellsDiseaseDysregulationCross-talkMetabolism
2023
Systematic review: emotion dysregulation and challenging behavior interventions for children and adolescents on the autism spectrum with graded key evidence-based strategy recommendations
Nuske H, Young A, Khan F, Palermo E, Ajanaku B, Pellecchia M, Vivanti G, Mazefsky C, Brookman-Frazee L, McPartland J, Goodwin M, Mandell D. Systematic review: emotion dysregulation and challenging behavior interventions for children and adolescents on the autism spectrum with graded key evidence-based strategy recommendations. European Child & Adolescent Psychiatry 2023, 33: 1963-1976. PMID: 37740093, DOI: 10.1007/s00787-023-02298-2.Peer-Reviewed Original ResearchConceptsEmotion dysregulationBehavioral interventionsAutism spectrumInterventions targeting emotion dysregulationTeaching emotion regulation skillsChildhood mental health disordersEmotion dysregulation measuresTarget internalizing symptomsEmotion regulation skillsEmotion regulation trainingAntecedent-based interventionsMental health disordersInternalizing symptomsChallenging behaviorRegulation skillsRegulation trainingBehavioral measuresHealth disordersAutismEmpirical supportEmotionsAdolescentsVisual supportDysregulationEvidence-based strategiesMaternal prenatal depression is associated with dysregulation over the first five years of life moderated by child polygenic risk for comorbid psychiatric problems
Babineau V, Jolicoeur‐Martineau A, Szekely E, Green C, Sassi R, Gaudreau H, Levitan R, Lydon J, Steiner M, O'Donnell K, Kennedy J, Burack J, Wazana A. Maternal prenatal depression is associated with dysregulation over the first five years of life moderated by child polygenic risk for comorbid psychiatric problems. Developmental Psychobiology 2023, 65: e22395. PMID: 37338256, DOI: 10.1002/dev.22395.Peer-Reviewed Original ResearchConceptsMaternal prenatal depressionPolygenic risk scoresPrenatal depressionPsychiatric problemsChild psychiatric problemsComorbid psychiatric problemsChildhood psychiatric problemsMajor depressive disorderHigher dysregulationYears of lifeAttention deficit hyperactivity disorderDeficit hyperactivity disorderWeeks' gestationPsychiatric comorbidityPrenatal cohortDepressive disorderPostnatal depressionRisk scorePrenatal stressDepression symptomsMaternal educationGreater riskHyperactivity disorderDysregulationPolygenic riskIntegrating genetics and transcriptomics to study major depressive disorder: a conceptual framework, bioinformatic approaches, and recent findings
Hicks E, Seah C, Cote A, Marchese S, Brennand K, Nestler E, Girgenti M, Huckins L. Integrating genetics and transcriptomics to study major depressive disorder: a conceptual framework, bioinformatic approaches, and recent findings. Translational Psychiatry 2023, 13: 129. PMID: 37076454, PMCID: PMC10115809, DOI: 10.1038/s41398-023-02412-7.Peer-Reviewed Original ResearchConceptsBioinformatics approachTranscriptomic dataBrain transcriptomeGenome-wide analysisDynamic transcriptional landscapeBrain gene expression dataGene expression dataTranscriptional landscapeTranscriptomic studiesIntegrating GeneticExpression dataPhenotypic signaturesGenomic driversTranscriptomeMajor depressive disorderValuable resourceRecent findingsEnvironmental influencesTranscriptomicsDepressive disorderGeneticsMultiple approachesPathophysiology of depressionSignaturesDysregulationChapter 17 The use of dialectical behavior therapy in childhood and adolescent eating disorders
Kamody R, Burton E. Chapter 17 The use of dialectical behavior therapy in childhood and adolescent eating disorders. 2023, 193-203. DOI: 10.1016/b978-0-323-85757-4.00039-0.ChaptersDialectical behavior therapyBehavior therapyUse of DBTSevere emotion dysregulationOpen dialectical behaviour therapyAdolescent Eating DisordersEvidence-based treatmentsEmotion dysregulationEating DisordersPsychiatric concernsYouthEatingChildhoodDisordersTheoretical modelPresent chapterEmotionsIndividualsAdolescentsResearchEffective treatmentChapter 17InterventionNext stepDysregulation
2022
The three-dimensional landscape of cortical chromatin accessibility in Alzheimer’s disease
Bendl J, Hauberg M, Girdhar K, Im E, Vicari J, Rahman S, Fernando M, Townsley K, Dong P, Misir R, Kleopoulos S, Reach S, Apontes P, Zeng B, Zhang W, Voloudakis G, Brennand K, Nixon R, Haroutunian V, Hoffman G, Fullard J, Roussos P. The three-dimensional landscape of cortical chromatin accessibility in Alzheimer’s disease. Nature Neuroscience 2022, 25: 1366-1378. PMID: 36171428, PMCID: PMC9581463, DOI: 10.1038/s41593-022-01166-7.Peer-Reviewed Original ResearchConceptsOpen chromatin regionsCis-regulatory domainsChromatin accessibilitySpecific enhancer-promoter interactionsTranscription factor regulatory networksEnhancer-promoter interactionsATAC-seq librariesChromatin regionsLysosomal genesNonneuronal nucleiRegulatory networksThree-dimensional structureGenomeThree-dimensional landscapeRegulatory effectsAlzheimer's diseaseCommunity-based analysisUSF2GenesDysregulationRepertoireTFAD casesLandscapeDomainChildhood Adversity, Addiction Severity, and Comorbidity Among Patients Receiving Opioid Use Disorder Treatment
Carr M, Ellis J, Saules K, Ledgerwood D. Childhood Adversity, Addiction Severity, and Comorbidity Among Patients Receiving Opioid Use Disorder Treatment. The Journal Of Nervous And Mental Disease 2022, 211: 150-156. PMID: 36112518, DOI: 10.1097/nmd.0000000000001581.Peer-Reviewed Original ResearchConceptsOpioid use disorder treatmentUse disorder treatmentClinical severityChildhood adversityDisorder treatmentOpioid agonist treatmentChildhood adversity exposureGreater childhood adversityOUD treatmentAgonist treatmentTreatment strategiesEmotion dysregulationEmotion regulationCurrent psychopathologyAddiction severityPatientsAdversity exposureSymptom typeSeverityWomenStrongest predictorTreatmentHigh rateDysregulationGreater exposureModeling reciprocal relations between emotion dysregulation and alcohol use using dynamic structural equation modeling: A micro‐longitudinal study
Weiss NH, Brick LA, Forkus SR, Goldstein SC, Thomas ED, Schick MR, Barnett NP, Contractor AA, Sullivan TP. Modeling reciprocal relations between emotion dysregulation and alcohol use using dynamic structural equation modeling: A micro‐longitudinal study. Alcohol Clinical And Experimental Research 2022, 46: 1460-1471. PMID: 35676805, PMCID: PMC11100457, DOI: 10.1111/acer.14881.Peer-Reviewed Original ResearchConceptsPositive emotion dysregulationEmotion dysregulationAlcohol useDynamic structural equation modelingLater alcohol useMicro-longitudinal studyCross-lagged effectsPotential reciprocal associationsCross-lagged associationsIntimate partner violenceStructural equation modelingMomentary levelIdiographic approachReciprocal associationsCross-sectional designLater levelsEquation modelingReciprocal relationsCommunity womenExtant literatureParticipantsSignificant interindividual variabilityPartner violenceVoice recordingsDysregulationDifferent Murine Models of Kidney Injury Reveal a Common Pattern of Dysregulation within the Polyamine System in Favour of its Catabolic Pathways
Sieckmann T, Ögel N, Kelterborn S, Boivin F, Schley G, Fähling M, Ashraf M, Reichel M, Vigolo E, Hartner A, Knauf F, Rosenberger C, Aigner F, Smidt‐Ott K, Scholz H, Kirschner K. Different Murine Models of Kidney Injury Reveal a Common Pattern of Dysregulation within the Polyamine System in Favour of its Catabolic Pathways. The FASEB Journal 2022, 36 DOI: 10.1096/fasebj.2022.36.s1.r3345.Peer-Reviewed Original ResearchProximal tubulesPolyamine systemKidney ischemia-reperfusion injuryIschemia-reperfusion injuryDifferent murine modelsReperfusion injuryInjury leadMurine modelMouse modelRNA stability assaysCell functionStriking changesRT-qPCRAltered subcellular localizationHypoxiaSimilar changesTubulesInjury expressionDysregulationKidney explantsHyperosmolarityEmbryonic kidney explantsHarmful conditionsExpressionCertain isoformsCentral and Peripheral Immune Dysregulation in Posttraumatic Stress Disorder: Convergent Multi-Omics Evidence
Núñez-Rios DL, Martínez-Magaña JJ, Nagamatsu ST, Andrade-Brito DE, Forero DA, Orozco-Castaño CA, Montalvo-Ortiz JL. Central and Peripheral Immune Dysregulation in Posttraumatic Stress Disorder: Convergent Multi-Omics Evidence. Biomedicines 2022, 10: 1107. PMID: 35625844, PMCID: PMC9138536, DOI: 10.3390/biomedicines10051107.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsPosttraumatic stress disorderPeripheral immune systemImmune systemInflammatory systemTrauma exposureStress disorderPeripheral immune dysregulationToll-like receptorsLifetime trauma exposurePotential novel drug targetsEtiology of PTSDImmune dysregulationInflammatory dysregulationHPA axisNovel drug targetsImmunological responseInflammatory signalingGeneral populationAnimal modelsIntegrative multi-omics approachPTSD treatmentMultifactorial disorderBrain tissueHallmark featureDysregulationOncometabolites as Regulators of DNA Damage Response and Repair
Gueble SE, Bindra RS. Oncometabolites as Regulators of DNA Damage Response and Repair. Seminars In Radiation Oncology 2022, 32: 82-94. PMID: 34861999, DOI: 10.1016/j.semradonc.2021.09.004.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsDNA damage responseDamage responseDDR defectsMultiple DNA repair pathwaysSynthetic lethal interactionsDNA repair pathwaysRepair pathwaysLethal interactionsDiverse mechanismsOncometaboliteCancer therapyCertain cancersNew mechanismTherapeutic strategiesSmall intermediatesBiologyRegulatorPathwayMechanismRepairDDRMetabolismDysregulationDefectsResponse
2021
Measuring Cell-Edge Protrusion Dynamics during Spreading using Live-Cell Microscopy.
Lukic N, Saha T, Lapetina S, Gendler M, Lehmann G, Koleske AJ, Gil-Henn H. Measuring Cell-Edge Protrusion Dynamics during Spreading using Live-Cell Microscopy. Journal Of Visualized Experiments 2021 PMID: 34779432, PMCID: PMC8672187, DOI: 10.3791/63157.Peer-Reviewed Original ResearchConceptsCell edge protrusionCell migrationProtrusion dynamicsKey actin regulatorsLive-cell microscopyMulticellular organismsActin regulatorsCoordinated regulationEmbryonic developmentMembrane dynamicsEssential eventRegeneration of tissuesCancer metastasisTissue invasionPathological disordersRufflesProtrusionMigrationOrganismsRegulatorHomeostasisRegulationInvasionDysregulationDynamicsImmunologic Dysregulation and Hypercoagulability as a Pathophysiologic Background in COVID-19 Infection and the Immunomodulating Role of Colchicine
Vrachatis DA, Papathanasiou KA, Giotaki SG, Raisakis K, Kossyvakis C, Kaoukis A, Kolokathis F, Deftereos G, Iliodromitis KE, Avramides D, Bogossian H, Siasos G, Giannopoulos G, Reimers B, Lansky A, Tardif JC, Deftereos S. Immunologic Dysregulation and Hypercoagulability as a Pathophysiologic Background in COVID-19 Infection and the Immunomodulating Role of Colchicine. Journal Of Clinical Medicine 2021, 10: 5128. PMID: 34768648, PMCID: PMC8584586, DOI: 10.3390/jcm10215128.Peer-Reviewed Original ResearchImmunologic dysregulationPathophysiologic backgroundImmunomodulating capacitySARS-CoV-2 infectionEffective therapeutic modalityCOVID-19 infectionDate systematic reviewSARS-CoV-2Thrombotic pathwaysClinical featuresDisease complicationsImmunomodulating roleTherapeutic modalitiesPathophysiologic importanceSystematic reviewHealth systemNovel diseaseHypercoagulabilityComplicationsCOVID-19InfectionDysregulationPivotal roleSignificant numberDiseasePortal hypertension in cirrhosis: Pathophysiological mechanisms and therapy
Iwakiri Y, Trebicka J. Portal hypertension in cirrhosis: Pathophysiological mechanisms and therapy. JHEP Reports 2021, 3: 100316. PMID: 34337369, PMCID: PMC8318926, DOI: 10.1016/j.jhepr.2021.100316.Peer-Reviewed Original ResearchLiver sinusoidal endothelial cellsHepatic stellate cellsPortal hypertensionChronic liver diseaseIntrahepatic vascular resistanceSinusoidal endothelial cellsExtrahepatic vasculatureVascular resistanceMicrovascular thrombosisHaemodynamic changesLiver diseasePathophysiological mechanismsPortal veinHypertensionPreclinical studiesEffective treatmentStellate cellsPathogenic complexityExtrahepatic mechanismsClinical advancesEffective therapeuticsUnsuccessful translationEndothelial cellsCirrhosisDysregulation
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