2025
Twenty‐five years without progress: The enduring challenge of soft tissue sarcomas
Hardy N, Frej K, Nkansah R, Olino K, Deshpande H, Ma X, Trent J, Costa P. Twenty‐five years without progress: The enduring challenge of soft tissue sarcomas. Cancer 2025, 131: e35906. PMID: 40396557, DOI: 10.1002/cncr.35906.Peer-Reviewed Original ResearchConceptsSoft tissue sarcomasMedian survivalTissue sarcomasDistant diseaseNo significant differenceImproved survivalSurvival improvementPoor prognosisBreast cancerLung cancerRare diseaseLack of commercial interestSurvival rateSignificant differenceCancerSurvivalNovel drugsPositive drugDiseaseSarcomaPatientsTwenty-fiveBiological mechanismsMonthsDrugMechanisms and strategies for organ recovery
Andrijevic D, Spajic A, Hameed I, Sheth K, Parnia S, Griesemer A, Montgomery R, Sestan N. Mechanisms and strategies for organ recovery. Nature Reviews Bioengineering 2025, 1-16. DOI: 10.1038/s44222-025-00293-7.Peer-Reviewed Original ResearchMechanisms of cellular injuryPerfusion systemHeart-lung machineSecondary cellular damageDecreased ATP productionIntracellular acidosisOrgan transplantationViability of mammalian cellsCirculating perfusateOxygen deliveryBlood supplyCellular injuryBlood flowInjured tissuePerfusionRestore circulationPharmacological compoundsIn vitroCell deathCellular demiseMammalian cellsATP productionResuscitation medicineOrgan recoveryBiological mechanismsComputationally derived parent-child interaction patterns and oxytocin in children with and without OCD
Mora-Jensen A, Thoustrup C, Lebowitz E, Hagstrøm J, Pretzmann L, Korsbjerg N, Thorsen E, Uhre V, Christensen S, Uhre C, Ritter M, Plessen K, Pagsberg A, Clemmensen L, Lønfeldt N. Computationally derived parent-child interaction patterns and oxytocin in children with and without OCD. Journal Of Anxiety Disorders 2025, 111: 102996. PMID: 40117840, DOI: 10.1016/j.janxdis.2025.102996.Peer-Reviewed Original ResearchParent-child interaction behaviorsPediatric OCDMother-childParent-child interaction processMother-child interaction patternsParent-child interaction patternsParent-child behaviorsSalivary oxytocin levelsParent-child interactionsFather-child interactionsAssociated with oxytocinFather-child pairsFamily engagementEnzyme-linked immunosorbent assayFrustration taskInteraction patternsOCDInteraction behaviorOxytocin levelsConflictual interactionsBiological mechanismsPositive associationArchetypal analysisFathering behaviorMachine learning techniquesImplications of gene × environment interactions in post-traumatic stress disorder risk and treatment
Seah C, Sidamon-Eristoff A, Huckins L, Brennand K. Implications of gene × environment interactions in post-traumatic stress disorder risk and treatment. Journal Of Clinical Investigation 2025, 135: e185102. PMID: 40026250, PMCID: PMC11870735, DOI: 10.1172/jci185102.Peer-Reviewed Original ResearchConceptsPost-traumatic stress disorderGene x environment interactionsGenetic component of riskLimitations of genetic studiesTreating post-traumatic stress disorderExposure to traumatic stressPost-traumatic stress disorder riskInteraction of traumaGenetic screeningGenetic studiesGenetic componentEnvironment interactionMolecular mechanismsStress disorderPTSD riskTraumatic exposureTraumatic stressTraumatic experiencesDisorder riskGenetic factorsNovel therapeuticsBiological mechanismsGWASGeneral populationGenes
2024
A shared spatial topography links the functional connectome correlates of cocaine use disorder and dopamine D2/3 receptor densities
Ricard J, Labache L, Segal A, Dhamala E, Cocuzza C, Jones G, Yip S, Chopra S, Holmes A. A shared spatial topography links the functional connectome correlates of cocaine use disorder and dopamine D2/3 receptor densities. Communications Biology 2024, 7: 1178. PMID: 39300138, PMCID: PMC11413242, DOI: 10.1038/s42003-024-06836-9.Peer-Reviewed Original ResearchConceptsCocaine use disorderPatterns of functional connectivityUse disorderFunctional connectivityReceptor densityLarge-scale functional brain networksMaintenance of substance useDopamine D2/3 receptorsDopamine receptor densityCortico-striatal circuitsProfile of functional connectivitySubstance use disordersFunctional brain networksNeurotransmitter receptor densityD2/3 receptorsDopamine systemTransporter bindingSubcortical systemsBrain networksSubstance useCocaineSpatial topographyDisordersDopamineBiological mechanismsThe associations between duration of untreated psychosis, growth factors, and neurocognition in patients with drug-naïve schizophrenia
Su Q, Xuekelaiti Z, Ma H, Qiu Y, Sun X, Bi F, Li M, Li J. The associations between duration of untreated psychosis, growth factors, and neurocognition in patients with drug-naïve schizophrenia. Schizophrenia Research 2024, 274: 113-120. PMID: 39288474, DOI: 10.1016/j.schres.2024.09.011.Peer-Reviewed Original ResearchDuration of untreated psychosisBrain-derived neurotrophic factorMATRICS Consensus Cognitive BatterySpeed of processingVascular endothelial growth factorUntreated psychosisEpidermal growth factorAssociated with speed of processingDuration of untreated psychosis groupGrowth factorConsensus Cognitive BatteryDrug-naive schizophreniaPlasma concentrations of vascular endothelial growth factorPlasma concentrationsConcentrations of vascular endothelial growth factorCognitive batteryVerbal learningAssociated with speedEndothelial growth factorNeurocognitionVisual learningCognitive impairmentEnzyme-linked immunosorbent assayBiological mechanismsNeurotrophic factorWhat makes each of us unique? The nine-banded armadillo as a model to study individuality
Leao D, Duque A, Dietrich M. What makes each of us unique? The nine-banded armadillo as a model to study individuality. Frontiers In Mammal Science 2024, 3: 1450655. DOI: 10.3389/fmamm.2024.1450655.Peer-Reviewed Original ResearchScience of individualityInter-individual differencesNine-banded armadilloBrain-related traitsSources of varianceBiology of individualsBrain structuresGenetic clonesReproductive biologyArmadillosHuman brainBrainMammalian brainStochastic factorsBiological mechanismsScienceIndividualsBiologyStudy individualsComplex interplayEmotionsClonesThoughtsNeuroscienceArgumentsFrailty and Cardiovascular Health
James K, Jamil Y, Kumar M, Kwak M, Nanna M, Qazi S, Troy A, Butt J, Damluji A, Forman D, Orkaby A. Frailty and Cardiovascular Health. Journal Of The American Heart Association 2024, 13: e031736. PMID: 39056350, PMCID: PMC11964060, DOI: 10.1161/jaha.123.031736.Peer-Reviewed Original ResearchConceptsCardiovascular diseaseRisk factorsCardiovascular disease risk factorsInfluence of frailtyIncidence of frailtySecondary prevention strategiesPrognostic markerCardiac interventionsClinical trialsCardiovascular disease managementPatientsModify frailtyPrevention strategiesBiological mechanismsFrailtyBidirectional relationshipFrailty detectionPopulation agingGenome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations
Gelernter J, Levey D, Galimberti M, Harrington K, Zhou H, Adhikari K, Gupta P, Program V, Gaziano J, Eliott D, Stein M. Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations. Cell Genomics 2024, 4: 100582. PMID: 38870908, PMCID: PMC11228954, DOI: 10.1016/j.xgen.2024.100582.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMillion Veteran ProgramRisk lociAssociation studiesTrans-ancestry meta-analysisSignificant risk lociPathway enrichment analysisEpiretinal membraneTrans-ancestryGenome-wideMultiple traitsGenetic associationEnrichment analysisGene expressionEuropean AmericansLoss of visual acuityVeteran ProgramGenetic correlationsLociBiological mechanismsAmerican populationVisual acuityRetinal conditionsControl individualsRetinal surfaceHigh-throughput assays to assess variant effects on disease
Ma K, Gauthier L, Cheung F, Huang S, Lek M. High-throughput assays to assess variant effects on disease. Disease Models & Mechanisms 2024, 17: dmm050573. PMID: 38940340, PMCID: PMC11225591, DOI: 10.1242/dmm.050573.Peer-Reviewed Original ResearchConceptsDeep mutational scanningGenetic variantsRare disease diagnosticsRare genetic variantsDisease mechanismsHigh-throughput assaySequencing effortsInvestigation of variantsMutational scanningModel cell lineVariant effectsMolecular toolsCell linesCell survival rateFunctional assaysDrug resistanceDisease diagnosticsDisease-relevant assaysVariantsClinical case reportBiological mechanismsAssayCase reportClinical reportsSurvival rate“Weeding out” violence? Translational perspectives on the neuropsychobiological links between cannabis and aggression
Bortolato M, Braccagni G, Pederson C, Floris G, Fite P. “Weeding out” violence? Translational perspectives on the neuropsychobiological links between cannabis and aggression. Aggression And Violent Behavior 2024, 78: 101948. PMID: 38828012, PMCID: PMC11141739, DOI: 10.1016/j.avb.2024.101948.Peer-Reviewed Original ResearchCannabis use disorderCannabis useReactive aggressionPathological aggressionViolent behaviorSelf-medication strategyCannabis misuseNeurobiological mechanismsUse disorderCannabis consumptionCannabisAggressionAnimal researchSelf-perpetuating cycleBidirectional interplayLegal discussionTranslational perspectiveEnvironmental predispositionSignificant linkSocietal attitudesBiological mechanismsYoung peopleViolent reactionDisordersPolarized understandingsGut microbiota-derived short-chain fatty acids and depression: deep insight into biological mechanisms and potential applications
Cheng J, Hu H, Ju Y, Liu J, Wang M, Liu B, Zhang Y. Gut microbiota-derived short-chain fatty acids and depression: deep insight into biological mechanisms and potential applications. General Psychiatry 2024, 37: e101374. PMID: 38390241, PMCID: PMC10882305, DOI: 10.1136/gpsych-2023-101374.Peer-Reviewed Original ResearchShort-chain fatty acidsMicrobiota-gut-brain axisGut microbiotaGut microbiota-derived short-chain fatty acidsMicrobiota-derived short-chain fatty acidsFatty acidsHost epigenomeBiological mechanismsMicrobiotaBioactive metabolitesDynamic ecosystemsGutImmune pathwaysPathophysiology of depressionChronic cerebral hypoperfusionCentral nervous systemNeuroendocrine alterationsClinical valueEpigenomeCerebral hypoperfusionNeuropsychiatric disordersMetabolitesDisease statusNervous systemDepression
2023
ML Based Phenotype Analysis Using Differential Gene Expression Data in Schizophrenia
D A, KJ S, Maniappan V, B S, S D, R P, Raja K, Oviya I. ML Based Phenotype Analysis Using Differential Gene Expression Data in Schizophrenia. 2023, 00: 1-7. DOI: 10.1109/icstcee60504.2023.10585167.Peer-Reviewed Original ResearchGene expression dataGene expression patternsGene expression profilesGene orientationSNP informationExpression dataGene expressionPhenotypic analysisExpression patternsGenesExpression profilesCell phenotypeBiological mechanismsBiological mechanisms of schizophreniaMechanisms of schizophreniaEqtnSNPsTherapeutic approachesPhenotypeGenome-wide association study of susceptibility to hospitalised respiratory infections
Williams A, Shrine N, Gijzel H, Betts J, Chen J, Hessel E, John C, Packer R, Reeve N, Yeo A, Abner E, Åsvold B, Auvinen J, Bartz T, Bradford Y, Brumpton B, Campbell A, Cho M, Chu S, Crosslin D, Feng Q, Esko T, Gharib S, Hayward C, Hebbring S, Hveem K, Järvelin M, Jarvik G, Landis S, Larson E, Liu J, Loos R, Luo Y, Moscati A, Mullerova H, Namjou B, Porteous D, Quint J, Center R, Ritchie M, Sliz E, Stanaway I, Thomas L, Wilson J, Hall I, Wain L, Michalovich D, Tobin M. Genome-wide association study of susceptibility to hospitalised respiratory infections. Wellcome Open Research 2023, 6: 290. PMID: 39220670, PMCID: PMC11362726, DOI: 10.12688/wellcomeopenres.17230.2.Peer-Reviewed Original ResearchGenome-wide significant signalsExpression quantitative trait lociGenome-wide association studiesStage 1 analysisAssociation studiesRespiratory infection susceptibilityTranscription factor binding activityHomeodomain-containing transcription factorQuantitative trait lociFactor binding activityInverse variance-weighted meta-analysesExpression of PBX3Biological mechanismsGenome-wideUK BiobankCausal genesRespiratory infection casesTrait lociInfection susceptibilityWell-imputedTranscription factor 3Transcription factorsRespiratory infectionsSignificant signalsGenetic determinantsExplaining How Psychotherapy Affects the Brain Can Increase the Perceived Effectiveness of Psychotherapy: A Randomized Controlled Trial
Perricone A, Bitran A, Ahn W. Explaining How Psychotherapy Affects the Brain Can Increase the Perceived Effectiveness of Psychotherapy: A Randomized Controlled Trial. Behavior Therapy 2023, 55: 738-750. PMID: 38937047, DOI: 10.1016/j.beth.2023.10.003.Peer-Reviewed Original ResearchEffectiveness of psychotherapyEfficacy of psychotherapyControlled TrialsUnderlying biological mechanismsDepression casesMental disordersClinical settingIntervention control conditionInterventionPsychotherapy resultsBiological mechanismsTrialsBrainControl conditionDepressionCurrent studyPsychotherapyParticipantsPharmacotherapyCliniciansBaselineBiological explanationPrimary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transportDaam2 phosphorylation by CK2α negatively regulates Wnt activity during white matter development and injury
Wang C, Zuo Z, Jo J, Kim K, Madamba C, Ye Q, Jung S, Bellen H, Lee H. Daam2 phosphorylation by CK2α negatively regulates Wnt activity during white matter development and injury. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2304112120. PMID: 37607236, PMCID: PMC10469030, DOI: 10.1073/pnas.2304112120.Peer-Reviewed Original ResearchConceptsOL developmentWhite matter injuryCentral nervous systemWnt/β-cateninWhite matter developmentWnt activityNeonatal hypoxiaBehavioral recoveryMyelin repairMyelin restorationNervous systemProtective roleOligodendrocyte developmentΒ-cateninWnt pathwayInjuryMyelinationBiological mechanismsNew biological mechanismsEarly differentiationPhosphorylationDemyelinationPathwayCombining Pharmacotherapy and Psychological Treatments for Obsessive-Compulsive Disorder
Tolin D, Sain K. Combining Pharmacotherapy and Psychological Treatments for Obsessive-Compulsive Disorder. 2023, 557-583. DOI: 10.1093/oxfordhb/9780190068752.013.21.Peer-Reviewed Original ResearchCognitive behavioral therapyObsessive-compulsive disorderD-cycloserineFirst-line monotherapyEffective monotherapyCombined therapyMedication monotherapyMonotherapyFirst treatmentSystematic reviewCBT monotherapyTherapyPsychological treatmentCompulsive disorderPharmacotherapyTreatmentMeta-analytic strategyBiological mechanismsDisordersEfficacyPlaceboMedicationsPatientsNew‐onset neurodegenerative diseases as long‐term sequelae of SARS‐CoV‐2 infection: A systematic review and meta‐analysis
Rahmati M, Yon D, Lee S, Soysal P, Koyanagi A, Jacob L, Li Y, Park J, Kim Y, Shin J, Smith L. New‐onset neurodegenerative diseases as long‐term sequelae of SARS‐CoV‐2 infection: A systematic review and meta‐analysis. Journal Of Medical Virology 2023, 95: e28909. PMID: 37394783, DOI: 10.1002/jmv.28909.Peer-Reviewed Original ResearchConceptsSequelae of SARS-CoV-2 infectionMeta-analysisHazard ratioSystematic reviewNeurodegenerative diseasesConfidence intervalsLong-term sequelae of SARS-CoV-2 infectionIncreased riskPooled effect sizeLong-term sequelaeSARS-CoV-2 infectionCOVID-19 survivorsEffect sizeSARS-CoV-2COVID-19Consequences of COVID-19Pooled analysisHigh riskAlzheimer's diseaseControl groupRiskCOVID-19 patientsBiological mechanismsAssociationNeurodegenerative consequencesLeveraging base-pair mammalian constraint to understand genetic variation and human disease
Sullivan P, Meadows J, Gazal S, Phan B, Li X, Genereux D, Dong M, Bianchi M, Andrews G, Sakthikumar S, Nordin J, Roy A, Christmas M, Marinescu V, Wang C, Wallerman O, Xue J, Yao S, Sun Q, Szatkiewicz J, Wen J, Huckins L, Lawler A, Keough K, Zheng Z, Zeng J, Wray N, Li Y, Johnson J, Chen J, Paten B, Reilly S, Hughes G, Weng Z, Pollard K, Pfenning A, Forsberg-Nilsson K, Karlsson E, Lindblad-Toh K, Andrews G, Armstrong J, Bianchi M, Birren B, Bredemeyer K, Breit A, Christmas M, Clawson H, Damas J, Di Palma F, Diekhans M, Dong M, Eizirik E, Fan K, Fanter C, Foley N, Forsberg-Nilsson K, Garcia C, Gatesy J, Gazal S, Genereux D, Goodman L, Grimshaw J, Halsey M, Harris A, Hickey G, Hiller M, Hindle A, Hubley R, Hughes G, Johnson J, Juan D, Kaplow I, Karlsson E, Keough K, Kirilenko B, Koepfli K, Korstian J, Kowalczyk A, Kozyrev S, Lawler A, Lawless C, Lehmann T, Levesque D, Lewin H, Li X, Lind A, Lindblad-Toh K, Mackay-Smith A, Marinescu V, Marques-Bonet T, Mason V, Meadows J, Meyer W, Moore J, Moreira L, Moreno-Santillan D, Morrill K, Muntané G, Murphy W, Navarro A, Nweeia M, Ortmann S, Osmanski A, Paten B, Paulat N, Pfenning A, Phan B, Pollard K, Pratt H, Ray D, Reilly S, Rosen J, Ruf I, Ryan L, Ryder O, Sabeti P, Schäffer D, Serres A, Shapiro B, Smit A, Springer M, Srinivasan C, Steiner C, Storer J, Sullivan K, Sullivan P, Sundström E, Supple M, Swofford R, Talbot J, Teeling E, Turner-Maier J, Valenzuela A, Wagner F, Wallerman O, Wang C, Wang J, Weng Z, Wilder A, Wirthlin M, Xue J, Zhang X. Leveraging base-pair mammalian constraint to understand genetic variation and human disease. Science 2023, 380: eabn2937. PMID: 37104612, PMCID: PMC10259825, DOI: 10.1126/science.abn2937.Peer-Reviewed Original ResearchConceptsHuman genomeHuman diseasesCopy-number variationsHeritable human diseasesGenome annotationVariant annotationGenomic positionsGenomic regionsDisease heritabilityFunctional annotationEvolutionary constraintsAssociation studiesCopy-numberGenetic variationGenetic findingsGenomeCell typesRegulatory landscapeDisease mechanismsAnnotationBiological mechanismsCancer dataMammalsPredictor of functionHeritability
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