2025
Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome
Shin J, Shin H, Gutierrez A, Yoo N, Par-Young J, Osmani L, Shin M, Sanchez-Lara P, Bucala R, Soffer G, Kang I. Decreased T helper 1 cell function underlies recurrent sinopulmonary infections in the 17q12 deletion syndrome. EBioMedicine 2025, 112: 105578. PMID: 39891996, PMCID: PMC11840234, DOI: 10.1016/j.ebiom.2025.105578.Peer-Reviewed Original ResearchConceptsCD4<sup>+</sup> T cellsRecurrent sinopulmonary infectionsT cell functionRNA-seq analysisT cellsHealthy controlsSinopulmonary infectionsRNA-seqT-betIFN-gFrequency of CD4<sup>+</sup> T cellsCD4<sup>+</sup> T cell functionTh1 transcription factor T-betDeletion syndromeFlow cytometryCompared to age-matched healthy controlsTranscription factor T-betDecreased T-betUrinary tract abnormalitiesAge-matched healthy controlsMultiplex assayDownstream effector cytokinesEffector cytokinesRecurrent infectionsTh17 cytokines
2024
Cognitive Control Network and Language Reorganization in Patients with Brain Tumors
Pasquini L, Napolitano A, Spitoni L, Schmid M, Dellepiane F, Jenabi M, Peck K, Holodny A. Cognitive Control Network and Language Reorganization in Patients with Brain Tumors. American Journal Of Neuroradiology 2024, 46: ajnr.a8638. PMID: 39730156, PMCID: PMC12152808, DOI: 10.3174/ajnr.a8638.Peer-Reviewed Original ResearchCognitive control networkLanguage reorganizationResting-state fMRIHealthy controlsFunctional magnetic resonance imagingControl networkTask-based fMRIResting state networksRight-handed patientsCognitive controlLanguage lateralizationReorganize languageEffect of lateralitySpeech deficitsLaterality indexFMRIAge-matched healthy controlsRight-handednessPatient's speechBrain tumorsTask-basedCognitive networksIndependent component analysisMagnetic resonance imagingBrain
2023
Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation
van der Meer D, Cheng W, Rokicki J, Fernandez-Cabello S, Shadrin A, Smeland O, Ehrhart F, Gülöksüz S, Pries L, Lin B, Rutten B, van Os J, O’Donovan M, Richards A, Steen N, Djurovic S, Westlye L, Andreassen O, Kaufmann T, Aguilar E, Akdede B, Alptekin K, Altınyazar V, Amoretti S, Andric-Petrovic S, Arango C, Arrojo M, Atbaşoğlu C, Bernardo M, Binbay T, Bobes J, Cankurtaran E, Carracedo A, Cihan B, Delespaul P, García-Portilla M, González-Peñas J, Guloksuz S, Gümüş-Akay G, Jiménez-López E, Ulusoy Kaymak S, Kenis G, Lin B, López G, Luykx J, Maric N, Mezquida G, Mihaljevic M, Mirjanic T, Parellada M, Pries K, Rivero O, Rutten B, Saiz P, Can Saka M, Sanjuan J, Luis Santos J, Soygür H, Üçok A, Ulaş H, van Os J, Yalınçetin B, Alizadeh B, van Amelsvoort T, Cahn W, de Haan L, Schirmbeck F, van Os J, Veling W. Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation. Schizophrenia Bulletin 2023, 50: 327-338. PMID: 37824720, PMCID: PMC10919784, DOI: 10.1093/schbul/sbad140.Peer-Reviewed Original ResearchAge-matched healthy controlsBrain maturational processesIndependent clinical cohortsOnset of symptomsPolygenic riskCortical tissue samplesGenetic risk factorsDevelopment of schizophreniaHeritable brain disorderSymptom onsetHealthy controlsRisk factorsClinical cohortEarly neurodevelopmentPolygenic risk scoresRisk scoreImmune systemSchizophrenia diagnosisBrain disordersSchizophreniaNeuronal communicationStrong associationEarly adulthoodTissue samplesMaturational processesFacial Expression after Face Transplant: An International Face Transplant Cohort Comparison
Dorante M, Wang A, Kollar B, Perry B, Ertosun M, Lindford A, Kiukas E, Özkan Ö, Özkan Ö, Lassus P, Pomahac B. Facial Expression after Face Transplant: An International Face Transplant Cohort Comparison. Plastic & Reconstructive Surgery 2023, 152: 315e-325e. PMID: 36727808, DOI: 10.1097/prs.0000000000010242.Peer-Reviewed Original ResearchConceptsFT patientsHealthy controlsMotor function restorationMotor functionFace transplantFunction restorationAge-matched healthy controlsCLINICAL QUESTION/LEVELInterpositional nerve graftFull face transplantRespective healthy controlsMotor outcomeNerve coaptationFemale patientsNerve graftsPatientsPercentage restorationCohort comparisonFacial proceduresBilateral testsTransplantScore valuesFacial movements
2022
Disrupted Topological Organization of White Matter Network in Angelman Syndrome
Wei L, Du X, Yang Z, Ding M, Yang B, Wang J, Long S, Qiao Z, Jiang Y, Wang Y, Wang H. Disrupted Topological Organization of White Matter Network in Angelman Syndrome. Journal Of Magnetic Resonance Imaging 2022, 57: 1212-1221. PMID: 35856797, DOI: 10.1002/jmri.28360.Peer-Reviewed Original Research
2021
Detecting Sensitive Mobility Features for Parkinson's Disease Stages Via Machine Learning
Mirelman A, Frank M, Melamed M, Granovsky L, Nieuwboer A, Rochester L, Del Din S, Avanzino L, Pelosin E, Bloem B, Della Croce U, Cereatti A, Bonato P, Camicioli R, Ellis T, Hamilton J, Hass C, Almeida Q, Inbal M, Thaler A, Shirvan J, Cedarbaum J, Giladi N, Hausdorff J. Detecting Sensitive Mobility Features for Parkinson's Disease Stages Via Machine Learning. Movement Disorders 2021, 36: 2144-2155. PMID: 33955603, DOI: 10.1002/mds.28631.Peer-Reviewed Original ResearchConceptsParkinson's diseaseDisease stageMid-stage Parkinson's diseaseAge-matched healthy controlsEarly Parkinson's diseaseHigh discriminatory valueBilateral anklesDisease progressionClinical trialsHealthy controlsDisease spectrumGait measuresSeverity stagesAdvanced stageTrunk sensorDisease severityStride timingStudy participantsDiscriminatory valueObjective monitoringMobility measuresDiseaseCohort selectionMean sensitivity
2020
The role of Hipk2-p53 pathways in arsenic-induced autistic behaviors: A translational study from rats to humans
Zhou H, Lin Y, Zhao W, Teng Y, Cui Y, Wang T, Li C, Jiang YH, Zhang JJ, Wang Y. The role of Hipk2-p53 pathways in arsenic-induced autistic behaviors: A translational study from rats to humans. Environmental Pollution 2020, 267: 115568. PMID: 33254717, DOI: 10.1016/j.envpol.2020.115568.Peer-Reviewed Original ResearchConceptsCase-control studySerum levelsArsenic exposureHealthy controlsNeuronal apoptosisFrontal cortexAge-matched healthy controlsGestational arsenic exposureHuman case-control studiesASD developmentHigher serum levelsAutistic behaviorASD childrenDose-dependent mannerAutism spectrum disorderPotential mediating pathwaysRat modelRat pupsKey molecular changesImmunohistochemistry analysisTranslational studiesWestern blottingMolecular changesTranslational strategiesMediating pathwaysHemodynamic impairments within individual watershed areas in asymptomatic carotid artery stenosis by multimodal MRI
Kaczmarz S, Göttler J, Petr J, Hansen M, Mouridsen K, Zimmer C, Hyder F, Preibisch C. Hemodynamic impairments within individual watershed areas in asymptomatic carotid artery stenosis by multimodal MRI. Cerebrovascular And Brain Metabolism Reviews 2020, 41: 380-396. PMID: 32237952, PMCID: PMC7812517, DOI: 10.1177/0271678x20912364.Peer-Reviewed Original ResearchConceptsInternal carotid artery stenosisRelative oxygen extraction fractionRelative cerebral blood volumeCerebral blood flowCapillary transit time heterogeneityOxygen extraction capacityCarotid artery stenosisHemodynamic impairmentCerebrovascular reactivityArtery stenosisUnilateral internal carotid artery stenosisAsymptomatic internal carotid artery stenosisAsymptomatic carotid artery stenosisAge-matched healthy controlsMultimodal MRICerebral blood volumeOxygen extraction fractionTransit time heterogeneityMicrovascular impairmentStroke riskOxygenation parametersWidespread dysfunctionHealthy controlsHemodynamic parametersIndividual patients
2017
Dual Inhibition of Mdmx and Mdm2 Using an Alpha-Helical P53 Stapled Peptide (ALRN-6924) As a Novel Therapeutic Strategy in Acute Myeloid Leukemia
Carvajal L, Ben-Neriah D, Senecal A, Bernard L, Narayanagari S, Kenworthy C, Thiruthuvanathan V, Guerlavais V, Annis D, Bartholdy B, Will B, Anampa J, Mantzaris I, Aivado M, Singer R, Coleman R, Verma A, Steidl U. Dual Inhibition of Mdmx and Mdm2 Using an Alpha-Helical P53 Stapled Peptide (ALRN-6924) As a Novel Therapeutic Strategy in Acute Myeloid Leukemia. Blood 2017, 130: 795. DOI: 10.1182/blood.v130.suppl_1.795.795.Peer-Reviewed Original ResearchAML cell linesAML patient cellsAML cellsMDM2 inhibitionHealthy controlsLeukemic stemCell linesAge-matched healthy controlsWild-type p53Significant improved survivalProgenitor cellsAML xenograft modelStem cell-enriched populationAnti-leukemic effectsPatient cellsPatient undergoing treatmentAcute myeloid leukemiaCellular proliferationNovel therapeutic strategiesCell-enriched populationsTarget gene p21Primary cellsTP53 tumor suppressor geneObjective responseImproved survival
2015
Biomechanical analysis of spasticity treatment in patients with multiple sclerosis
Wininger M, Craelius W, Settle J, Robinson S, Isaac B, Maloni H, Moradi M, Newby NA, Wallin M. Biomechanical analysis of spasticity treatment in patients with multiple sclerosis. Therapeutic Advances In Neurological Disorders 2015, 8: 203-211. PMID: 26668586, PMCID: PMC4622116, DOI: 10.1177/1756285615601390.Peer-Reviewed Original ResearchModified Ashworth ScaleAge-matched healthy controlsMultiple sclerosisTardieu ScaleMS casesHealthy controlsClinical assessmentVoluntary movementBiomechanical analysisArm spasticityBaclofen therapyOral baclofenBaclofen treatmentAshworth ScaleLimb spasticitySpasticity symptomsSpasticity treatmentClinical spasticityBaseline scoresPatientsSpasticitySimple biomechanical analysisMotor performanceSclerosisSignificant increase
2013
Functional MRI and neural responses in a rat model of Alzheimer's disease
Sanganahalli BG, Herman P, Behar KL, Blumenfeld H, Rothman DL, Hyder F. Functional MRI and neural responses in a rat model of Alzheimer's disease. NeuroImage 2013, 79: 404-411. PMID: 23648961, PMCID: PMC3700380, DOI: 10.1016/j.neuroimage.2013.04.099.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseFunctional magnetic resonance imagingCerebral cortexAD brainSomatosensory cortexRat modelCortical functionNeural responsesAge-matched healthy controlsAD rat modelContralateral somatosensory cortexSensory-evoked responsesHigh-field functional magnetic resonance imagingBrain functional responsesMagnetic resonance imagingAD ratsControl ratsHealthy controlsThalamic responsesNormal ratsCortical responsesAD modelSubcortical functionBrain plaquesElectrical stimulation
2012
Error Monitoring Dysfunction Across the Illness Course of Schizophrenia
Perez VB, Ford JM, Roach BJ, Woods SW, McGlashan TH, Srihari VH, Loewy RL, Vinogradov S, Mathalon DH. Error Monitoring Dysfunction Across the Illness Course of Schizophrenia. Journal Of Psychopathology And Clinical Science 2012, 121: 372-387. PMID: 22060947, PMCID: PMC3358508, DOI: 10.1037/a0025487.Peer-Reviewed Original ResearchConceptsEarly illness schizophrenia patientsClinical high-risk patientsSchizophrenia patientsIllness courseAge-matched healthy controlsHigh-risk patientsAge-matched HCChronic schizophrenia patientsOnset of psychosisCorrect response negativityPE abnormalitiesRisk patientsCHR patientsClinical prodromeEvent-related potentialsIllness durationHealthy controlsIllness progressionPsychosis onsetPatientsAbnormalitiesIllnessResponse monitoringError-related negativityOnset
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