2025
EXTRACELLULAR VESICLES IN MAJOR DEPRESSIVE DISORDER AND THEIR RELATIONSHIP TO TREATMENT OUTCOME
Eggerstorfer *, Zadka Ł, Rusak A, Godbersen G, Opalińska A, Unterholzner J, Haczkiewicz-Leśniak K, Silberbauer L, Hahn A, Murgaš M, Gomułkiewicz A, Rujescu D, Podhorska-Okołów M, Lanzenberger R, Gryglewski G. EXTRACELLULAR VESICLES IN MAJOR DEPRESSIVE DISORDER AND THEIR RELATIONSHIP TO TREATMENT OUTCOME. The International Journal Of Neuropsychopharmacology 2025, 28: i32-i33. PMCID: PMC11815236, DOI: 10.1093/ijnp/pyae059.056.Peer-Reviewed Original ResearchMDD patientsPathophysiology of psychiatric disordersPlasma of MDD patientsOutcome of MDDAntidepressant treatment responseSerotonin transporter occupancyDepression Rating ScaleTreated with escitalopramHealthy controlsExpression of SLC6A4Expression of exosome markersAntidepressant treatmentDepressive disorderSerotonin transporterExosomal markersPsychiatric disordersTransporter occupancyNanoparticle tracking analysisMDDMental disordersMRNA expressionDiverse neurotransmittersRating ScaleCD9 expressionExtracellular vesiclesPhenome-wide association studies between SERINC2 and neuropsychiatric disorders
Liu P, Luo X, Cao L, Zhang Y, Ji J, Wang X, Wang K, Pan X, Yang R, Tan Z, Tan Y, Li C, Guo X, Wang Z, Luo X. Phenome-wide association studies between SERINC2 and neuropsychiatric disorders. Frontiers In Psychiatry 2025, 15: 1420395. PMID: 39902246, PMCID: PMC11788846, DOI: 10.3389/fpsyt.2024.1420395.Peer-Reviewed Original ResearchGray matter volumeBipolar disorderNeuropsychiatric disordersDisease-risk alleleSubcortical gray matter volumesSubstance use disordersMRNA expressionCortical surface areaAssociated with alcoholCocaine dependenceMarijuana dependencePolysubstance dependenceMatter volumeNicotine dependenceBrain regionsSchizophreniaSubcortical structuresSNP-disease associationsPhenome-wide association studyAutismOCDFDR correctionDisordersRegulatory effectsAssociation studiesIn Utero Alcohol and Tobacco Exposure, Maternal Depression, And Maternal Obesity Are Associated with Impaired Oligodendrocyte Differentiation in The Developing Brain
Bharai U, Hamze J, Zhang B, Hampe M, Sparks E, Merabova N, Tatevosian G, Darbinyan A, Morrison M, Goetzl L, Darbinian N, Selzer M. In Utero Alcohol and Tobacco Exposure, Maternal Depression, And Maternal Obesity Are Associated with Impaired Oligodendrocyte Differentiation in The Developing Brain. Obstetrics And Gynecology Research 2025, 8: 1-9. PMID: 40061215, DOI: 10.26502/ogr0172.Peer-Reviewed Original ResearchFetal alcohol spectrum disordersEtOH exposureTobacco exposureMaternal obesityMRNA expressionAssociated with reduced mRNA expressionCombination of EtOHSeverity of fetal alcohol spectrum disorderEffects of EtOHFetal brain tissueImpaired oligodendrocyte differentiationWhite matter developmentProduction of structural proteinsImpaired oligodendrocyteUtero alcoholFetal genderGestational ageMaternal plasmaActin mRNA expressionPregnant womenFetal brainLower BMIProphylactic interventionsAssociated with dysmyelinationCombination group
2024
CD4 downregulation precedes Env expression and protects HIV-1-infected cells from ADCC mediated by non-neutralizing antibodies
Richard J, Sannier G, Zhu L, Prévost J, Marchitto L, Benlarbi M, Beaudoin-Bussières G, Kim H, Sun Y, Chatterjee D, Medjahed H, Bourassa C, Delgado G, Dubé M, Kirchhoff F, Hahn B, Kumar P, Kaufmann D, Finzi A. CD4 downregulation precedes Env expression and protects HIV-1-infected cells from ADCC mediated by non-neutralizing antibodies. MBio 2024, 15: e01827-24. PMID: 39373535, PMCID: PMC11559134, DOI: 10.1128/mbio.01827-24.Peer-Reviewed Original ResearchAntibody-dependent cellular cytotoxicityProductively infected cellsEnv-CD4 interactionNon-neutralizing antibodiesHIV-1CD4 downmodulationEnv expressionCellular cytotoxicityResistance to antibody-dependent cellular cytotoxicityHIV-1-infected humanized miceInfected cellsHIV-1 cure strategiesHIV-1 mRNA expressionHIV-1-infected cellsCD4+ T cellsHIV-1 envelope glycoproteinMRNA expressionADCC-mediating antibodiesNon-neutralizing AbsCell surface CD4HIV-1 isolatesImmunotherapy-based strategiesMultiparametric flow cytometryVirally infected cellsEffective immune responseCholesterol promotes IFNG mRNA expression in CD4+ effector/memory cells by SGK1 activation
Hanin A, Comi M, Sumida T, Hafler D. Cholesterol promotes IFNG mRNA expression in CD4+ effector/memory cells by SGK1 activation. Life Science Alliance 2024, 7: e202402890. PMID: 39366761, PMCID: PMC11452476, DOI: 10.26508/lsa.202402890.Peer-Reviewed Original ResearchConceptsCentral nervous systemT cellsEffector/memory cellsCentral nervous system milieuT cell environmentCD4 T cellsIFNG mRNA expressionCXCR3<sup>+</sup> cellsT cell homeostasisInhibition of SGK1Targeting lipid pathwaysMaintenance of immune surveillanceSerum/glucocorticoid-regulated kinaseImmune surveillanceHealthy donorsCytotoxic capacityEffector responsesInflammatory conditionsSGK1 activityMRNA expressionNervous systemSGK1Metabolic conditionsLipid pathwaysTissue adaptationThe Role of 3’ Regulatory Region Flanking Kinectin 1 Gene in Schizophrenia
Guo X, Luo X, Huang X, Zhang Y, Ji J, Wang X, Wang K, Wang J, Pan X, Chen B, Tan Y, Luo X. The Role of 3’ Regulatory Region Flanking Kinectin 1 Gene in Schizophrenia. Anatolian Journal Of Psychiatry 2024, 25: 413-420. PMID: 39148597, PMCID: PMC11322729, DOI: 10.5152/alphapsychiatry.2024.241616.Peer-Reviewed Original ResearchGray matter volumeAssociated with volumetric reductionsBasal gangliaSuperior frontal cortexDevelopment of schizophreniaSingle-nucleotide polymorphismsRisk of schizophreniaNucleus accumbensFrontal cortexPosterior cingulateMatter volumeInsular cortexBrain areasSchizophreniaSubcortical nucleiVolumetric reductionCortexPutamenCortical areasIndependent samplesRisk allelesSignificance of variantsRegulatory regionsMRNA expressionGenome-wide association studies292-OR: Coenzyme A Synthase Knockdown Alleviates Metabolic Dysfunction–Associated Steatohepatitis via Decreasing Cholesterol in Liver Lipid Droplets
SAKUMA I, GASPAR R, NASIRI A, KAHN M, GUERRA M, YIMLAMAI D, MURRAY S, PERELIS M, BARNES W, VATNER D, PETERSEN K, SAMUEL V, SHULMAN G. 292-OR: Coenzyme A Synthase Knockdown Alleviates Metabolic Dysfunction–Associated Steatohepatitis via Decreasing Cholesterol in Liver Lipid Droplets. Diabetes 2024, 73 DOI: 10.2337/db24-292-or.Peer-Reviewed Original ResearchCholine-deficient l-amino acid-defined high-fat dietAccumulation of cholesterolMRNA expressionPlasma ALTL-amino acid-defined high-fat dietProtective effectLiver lipid dropletsType 2 diabetesPotential therapeutic approachHigh-fat dietDecreased plasma ALTFibrosis markersFree cholesterol accumulationLipid dropletsLiver inflammationDay 1Macrophage markersHepatic inflammationMouse modelMarker expressionTherapeutic approachesDay 2Day 3Day 7FibrosisIdentifying G6PC3 as a Potential Key Molecule in Hypoxic Glucose Metabolism of Glioblastoma Derived from the Depiction of 18F‐Fluoromisonidazole and 18F‐Fluorodeoxyglucose Positron Emission Tomography
Okamoto M, Yamaguchi S, Sawaya R, Echizenya S, Ishi Y, Kaneko S, Motegi H, Toyonaga T, Hirata K, Fujimura M. Identifying G6PC3 as a Potential Key Molecule in Hypoxic Glucose Metabolism of Glioblastoma Derived from the Depiction of 18F‐Fluoromisonidazole and 18F‐Fluorodeoxyglucose Positron Emission Tomography. BioMed Research International 2024, 2024: 2973407. PMID: 38449509, PMCID: PMC10917478, DOI: 10.1155/2024/2973407.Peer-Reviewed Original ResearchConceptsPositron emission tomographyF-FDGMRNA expressionOverall survivalGlucose metabolismF-FDG positron emission tomographyAssociated with poor overall survivalProtein expressionEmission tomographyGross total resectionPotential key moleculesFluorine-18 fluorodeoxyglucoseHypoxic conditionsDegree of glucose metabolismMolecular mechanisms of glucose metabolismAggressive primary brain tumorPoor overall survivalPrimary brain tumorKey moleculesTotal resectionPreoperative examinationIntratumoral hypoxiaPrognostic valuePoor prognosisBiomarkers of glioblastoma
2023
191-OR: Deletion of the Type 2 Diabetes Candidate Gene SLC16A11 Reduces Peripheral Insulin Sensitivity in Mice
EL-AGROUDY N, SCHUMANN T, KURZBACH A, SANCAR G, SANDFORTH L, HERRMANN C, SHULMAN G, BIRKENFELD A. 191-OR: Deletion of the Type 2 Diabetes Candidate Gene SLC16A11 Reduces Peripheral Insulin Sensitivity in Mice. Diabetes 2023, 72 DOI: 10.2337/db23-191-or.Peer-Reviewed Original ResearchDb/db miceOb/obInsulin sensitivityDb miceMRNA expressionWhole-body insulin sensitivitySkeletal muscle insulin sensitivitySkeletal muscle insulin resistanceSkeletal musclePeripheral insulin sensitivityTreatment of T2D.Hyperinsulinemic-euglycemic clampLiver fat contentGlucose infusion rateMuscle insulin sensitivityMuscle insulin resistanceHepatic glucose productionHepatic mitochondrial functionWT littermate miceA novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study
Guo X, Wang S, Lin X, Wang Z, Dou Y, Cao Y, Zhang Y, Luo X, Kang L, Yu T, Wang Z, Tan Y, Gao S, Zheng H, Zhao F, Wang H, Wang K, Xie F, Chen W, Luo X. A novel risk variant block across introns 36–45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study. Psychiatric Genetics 2023, 33: 182-190. PMID: 37706495, PMCID: PMC10502955, DOI: 10.1097/ypg.0000000000000344.Peer-Reviewed Original ResearchConceptsGray matter volumeBrain regionsMRNA expressionSubcortical structuresPathogenesis of schizophreniaRisk variantsRisk genesMultiple brain regionsCortical surface areaPotential regulatory effectsHealthy subjectsMatter volumeSignificant associationCortical regionsSame effect directionSchizophreniaNovel risk variantsSchizophrenia risk allelesAssociation studiesCACNA1CIndependent samplesRegulatory effectsNumerous genome-wide association studiesTop risk genesValidation studyGenetic analyses of chr11p15.5 region identify MUC5AC-MUC5B associated with asthma-related phenotypes
Li X, Li H, Christenson S, Castro M, Denlinger L, Erzurum S, Fahy J, Gaston B, Israel E, Jarjour N, Levy B, Mauger D, Moore W, Zein J, Kaminski N, Wenzel S, Woodruff P, Bleecker E, Meyers D, Program F. Genetic analyses of chr11p15.5 region identify MUC5AC-MUC5B associated with asthma-related phenotypes. Journal Of Asthma 2023, 60: 1824-1835. PMID: 36946148, PMCID: PMC10524756, DOI: 10.1080/02770903.2023.2193631.Peer-Reviewed Original ResearchA significant, functional and replicable risk KTN1 variant block for schizophrenia
Mao Q, Lin X, Yin Q, Liu P, Zhang Y, Qu S, Xu J, Cheng W, Luo X, Kang L, Taximaimaiti R, Zheng C, Zhang H, Wang X, Ren H, Cao Y, Lin J, Luo X. A significant, functional and replicable risk KTN1 variant block for schizophrenia. Scientific Reports 2023, 13: 3890. PMID: 36890161, PMCID: PMC9995530, DOI: 10.1038/s41598-023-27448-z.Peer-Reviewed Original ResearchIL17A mRNA Staining Distinguishes Palmoplantar Psoriasis from Hyperkeratotic Palmoplantar Eczema in Diagnostic Skin Biopsies
Chen J, Murphy M, Singh K, Wang A, Chow R, Kim R, Cohen J, Ko C, Damsky W. IL17A mRNA Staining Distinguishes Palmoplantar Psoriasis from Hyperkeratotic Palmoplantar Eczema in Diagnostic Skin Biopsies. JID Innovations 2023, 3: 100189. PMID: 37205304, PMCID: PMC10186614, DOI: 10.1016/j.xjidi.2023.100189.Peer-Reviewed Original ResearchMycosis fungoides palmaris et plantarisPalmoplantar psoriasisNonacral sitesPalmoplantar eczemaMRNA expressionAcral skinIL-13 expressionPalmaris et plantarisDiagnostic skin biopsyDermatopathology databaseIL-17AHistopathologic featuresClinical managementBiopsy specimensSkin biopsiesCytokine biomarkersUseful biomarkerEczemaPsoriasisDiagnostic clarityMRNA stainingDermatosesBiomarkersSitu hybridizationSkinMale-specific, replicable and functional roles of genetic variants and cerebral gray matter volumes in ADHD: a gene-wide association study across KTN1 and a region-wide functional validation across brain
Luo X, Lin X, Ide J, Luo X, Zhang Y, Xu J, Wang L, Chen Y, Cheng W, Zheng J, Wang Z, Yu T, Taximaimaiti R, Jing X, Wang X, Cao Y, Tan Y, Li C. Male-specific, replicable and functional roles of genetic variants and cerebral gray matter volumes in ADHD: a gene-wide association study across KTN1 and a region-wide functional validation across brain. Child And Adolescent Psychiatry And Mental Health 2023, 17: 4. PMID: 36609385, PMCID: PMC9824933, DOI: 10.1186/s13034-022-00536-0.Peer-Reviewed Original ResearchGray matter volumeAttention deficit hyperactivity disorderTotal intracranial volumeSubcortical gray matter volumesMRNA expressionBasal gangliaEuropean cohortABCD cohortMatter volumeCerebral gray matter volumeRisk of ADHDPathogenesis of ADHDGene-wide association studyAmygdala gray matter volumeRegulatory effectsDeficit hyperactivity disorderBrain cohortSubcortical regionsBrain regionsIntracranial volumeCohortSubcortical structuresADHD risk allelesADHD riskHyperactivity disorder
2022
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
Tuysuz B, Alkaya D, Geyik F, Alaylıoğlu M, Kasap B, Kurugoğlu S, Akman Y, Vural M, Bilguvar K. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. Journal Of Medical Genetics 2022, 60: 819-826. PMID: 36543534, DOI: 10.1136/jmg-2022-108763.Peer-Reviewed Original ResearchConceptsOsteogenesis imperfectaWestern blot analysisPathogenic variantsFrameshift variantSkin fibroblast samplesExpression levelsInsulin-dependent Akt phosphorylationBlot analysisAutosomal recessive osteogenesis imperfectaWhole-exome sequencingMRNA expression levelsType 1 collagenBisphosphonate treatmentRecurrent fracturesClinical evaluationRecessive osteogenesis imperfectaCommon findingReal-time PCRMRNA expressionVertebral changesHeterogeneous groupAkt phosphorylationLong bonesBloodSkin fibroblastsmRNA 5′ terminal sequences drive 200-fold differences in expression through effects on synthesis, translation and decay
van den Elzen A, Watson M, Thoreen C. mRNA 5′ terminal sequences drive 200-fold differences in expression through effects on synthesis, translation and decay. PLOS Genetics 2022, 18: e1010532. PMID: 36441824, PMCID: PMC9731452, DOI: 10.1371/journal.pgen.1010532.Peer-Reviewed Original ResearchConceptsTerminal sequenceGene expressionKey post-transcriptional regulatorsTerminal oligopyrimidine motifsCore promoter motifsPost-transcriptional regulatorsPromoter motifsMRNA decayTranslation initiationRegulatory sequencesReporter mRNAEfficient transcriptionLibrary sequencesEndogenous mRNARegulatory potentialNative mRNAHuman cellsTranscriptionMRNAHybrid sequencesSequenceExpressionMotifMRNA expressionTranslationMolecular differences between younger versus older ER-positive and HER2-negative breast cancers
Qing T, Karn T, Rozenblit M, Foldi J, Marczyk M, Shan N, Blenman K, Holtrich U, Kalinsky K, Meric-Bernstam F, Pusztai L. Molecular differences between younger versus older ER-positive and HER2-negative breast cancers. Npj Breast Cancer 2022, 8: 119. PMID: 36344517, PMCID: PMC9640562, DOI: 10.1038/s41523-022-00492-0.Peer-Reviewed Original ResearchBreast cancerYounger patientsHER2-negative breast cancerNode-positive breast cancerNode-negative diseaseSame clinical featuresHigh mutation burdenLower mRNA expressionAdjuvant chemotherapyMicroarray cohortTAILORx trialOvarian suppressionOlder patientsPatient ageClinical featuresProliferation-related gene expressionScore 0Mutation burdenCopy number gainsOlder womenGATA3 mutationsAge groupsGene signatureMRNA expressionChemotherapyPADI4 Haplotypes Contribute to mRNA Expression, the Enzymatic Activity of Peptidyl Arginine Deaminase and Rheumatoid Arthritis Risk in Patients from Western Mexico
Matuz-Flores M, Rosas-Rodríguez J, Tortoledo-Ortiz O, Muñoz-Barrios S, Martínez-Bonilla G, Hernández-Bello J, Baños-Hernández C, Pacheco-Tena C, Sánchez-Zuno G, Panduro-Espinoza B, Muñoz-Valle J. PADI4 Haplotypes Contribute to mRNA Expression, the Enzymatic Activity of Peptidyl Arginine Deaminase and Rheumatoid Arthritis Risk in Patients from Western Mexico. Current Issues In Molecular Biology 2022, 44: 4268-4281. PMID: 36135205, PMCID: PMC9498032, DOI: 10.3390/cimb44090293.Peer-Reviewed Original ResearchPeptidyl arginine deiminase 4 activityPeptidyl arginine deiminase 4Associated with RA susceptibilityPADI4 mRNA expressionRA patientsMRNA expressionGTG haplotypeRheumatoid arthritisControl subjectsPADI4 haplotypesRA susceptibilityEnzymatic activityActivation of peptidyl arginine deiminase 4Western MexicoPCR-RFLP methodProgression of rheumatoid arthritisRheumatoid arthritis riskPADI4 polymorphismsGenetic risk factorsAnti-CCPPADI4 geneReal-time PCRG allelePatientsRisk factorsLongitudinal alterations in mRNA expression of the BDNF neurotrophin signaling cascade in blood correlate with changes in depression scores in patients undergoing electroconvulsive therapy
Schurgers G, Walter S, Pishva E, Guloksuz S, Peerbooms O, Incio L, Arts B, Kenis G, Rutten B. Longitudinal alterations in mRNA expression of the BDNF neurotrophin signaling cascade in blood correlate with changes in depression scores in patients undergoing electroconvulsive therapy. European Neuropsychopharmacology 2022, 63: 60-70. PMID: 36067540, DOI: 10.1016/j.euroneuro.2022.07.183.Peer-Reviewed Original ResearchConceptsBrain-derived neurotrophic factorBDNF/TrkBExpression of BDNFSerum BDNF protein levelsBDNF protein levelsElectroconvulsive therapyDepression scoresMRNA expressionPeripheral bloodTreatment-resistant depressed patientsProtein levelsMechanism of actionAntidepressant effectsNeurotrophic factorDepressed patientsLongitudinal alterationsSevere depressionBlood correlatesEffective treatmentLongitudinal changesTrkBStudy periodNR3C1PatientsTherapyNicotine dose-dependent epigenomic-wide DNA methylation changes in the mice with long-term electronic cigarette exposure.
Peng G, Xi Y, Bellini C, Pham K, Zhuang ZW, Yan Q, Jia M, Wang G, Lu L, Tang MS, Zhao H, Wang H. Nicotine dose-dependent epigenomic-wide DNA methylation changes in the mice with long-term electronic cigarette exposure. American Journal Of Cancer Research 2022, 12: 3679-3692. PMID: 36119846, PMCID: PMC9442002.Peer-Reviewed Original ResearchElectronic cigarette exposureCigarette exposureMale ApoE-/- miceApoE-/- miceCytokine mRNA expressionPoor health outcomesWhite blood cellsElectronic cigarette useDose-dependent mannerE-cigarette aerosolAerosol inhalationCigarette smokingActivation of MAPKHigher nicotine concentrationsMAPK pathway activationCell-damaging effectsCpG sitesHealth outcomesCigarette useMRNA expressionNicotine concentrationsPathway activationSignificant CpG sitesBlood cellsSignificant alterations
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