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Association of ADHD with genetic variants in the 5'-region of the dopamine transporter gene: evidence for allelic heterogeneity.

2008

Contains fulltext : 69953.pdf (Publisher’s version ) (Closed access) Multiple studies have reported an association between attention deficit hyperactivity disorder (ADHD) and the 10-repeat allele of a variable number tandem repeat (VNTR) polymorphism in the 3'-untranslated region (3'UTR) of the dopamine transporter gene (DAT1). Yet, recent meta-analyses of available data find little or no evidence for this association; although there is strong evidence for heterogeneity between datasets. This pattern of findings could arise for several reasons including the presence of relatively rare risk alleles on common haplotype backgrounds or the functional interaction of two or more loci within the g…

Linkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyRisk FactorsPerception and Action [DCN 1]Genetics(clinical)Promoter Regions GeneticGenetics (clinical)Genetics0303 health sciences10058 Department of Child and Adolescent PsychiatryEuropeVariable number tandem repeatPsychiatry and Mental health/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingAllelic heterogeneityFunctional Neurogenomics [DCN 2]Genetic Markers2716 Genetics (clinical)Single-nucleotide polymorphism610 Medicine & healthBiologyPolymorphism Single NucleotideMental health [NCEBP 9]White PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]Genetic Heterogeneity03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCognitive neurosciences [UMCN 3.2]Humansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAllele frequencyAlleles030304 developmental biologyDopamine Plasma Membrane Transport ProteinsGenetic heterogeneityHaplotypeGenetic VariationHaplotypesGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity5' Untranslated Regions030217 neurology & neurosurgeryMicrosatellite Repeats
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Tiratricol neutralizes bacterial endotoxins and reduces lipopolysaccharide-induced TNF-alpha production in the cell.

2008

Contains fulltext : 70610.pdf (Publisher’s version ) (Closed access) The screening of a commercially available library of compounds has proved a successful strategy for the identification of a lead compound in a drug discovery programme. Here, we analysed 880 off-patent drugs, which initially comprised the Prestwick Chemical library, as sources of bacterial endotoxin neutralizers. We identified 3,3',5-triiodo-thyroacetic acid (tiratricol) as a non-antibacterial compound that neutralizes the toxic lipopolysaccharide.

LipopolysaccharidesendotoxinLipopolysaccharideCelllipopolysaccharide-antagonistsBiology:Enginyeria dels materials [Àrees temàtiques de la UPC]BiochemistryCell LineChemical libraryMicrobiologyLipid ASepsissepsisMiceStructure-Activity Relationshipchemistry.chemical_compoundtumour necrosis factor-alphaDrug DiscoveryEscherichia colimedicineAnimalsDrugs--Designlipid APharmacologyTriiodothyroacetic acidMedicaments -- DissenyTumor Necrosis Factor-alphaDrug discoveryOrganic Chemistrylipopolysaccharidetumour necrosis factor-amedicine.diseaseAnti-Bacterial AgentsEndotoxinsmedicine.anatomical_structurechemistryTriiodothyronineMolecular Medicineseptic shockLead compoundImmunity infection and tissue repair [NCMLS 1]
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The nonalcoholic steatohepatitis (NASH) drug development graveyard: established hurdles and planning for future success

2020

Contains fulltext : 229341.pdf (Publisher’s version ) (Open Access) INTRODUCTION: Numerous pharmacological compounds that target the different molecular targets involved in the pathobiology of nonalcoholic steatohepatitis (NASH) are currently in clinical testing. So far, there are no regulatory approvals. AREAS COVERED: This paper sheds light on the molecular pathways involved in NASH and the drugs targeting these pathways. We have identified 10 compounds whose clinical development program has been halted. Moreover, we explore early phase clinical trials and dissect the reasons for termination of development. EXPERT OPINION: The main goal of NASH pharmacotherapy is to halt or reverse hepati…

Liver Cirrhosis0301 basic medicineNonalcoholic steatohepatitisAnti-Inflammatory AgentsPhases of clinical researchBioinformaticsdigestive system03 medical and health sciences0302 clinical medicineDrug DevelopmentNon-alcoholic Fatty Liver DiseasemedicineAnimalsHumansPharmacology (medical)Molecular Targeted TherapyPharmacologybusiness.industryFatty liverGeneral Medicinemedicine.diseasedigestive system diseasesRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]030104 developmental biologyDrug development030220 oncology & carcinogenesisMolecular targetsbusinessExpert Opinion on Investigational Drugs
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Reduced firing rates of pyramidal cells in the frontal cortex of APP/PS1 can be restored by acute treatment with levetiracetam

2020

Contains fulltext : 229488.pdf (Publisher’s version ) (Open Access) Contains fulltext : 229488pre.pdf (Author’s version preprint ) (Open Access) In recent years, aberrant neural oscillations in various cortical areas have emerged as a common physiological hallmark across mouse models of amyloid pathology and patients with Alzheimer's disease. However, much less is known about the underlying effect of amyloid pathology on single cell activity. Here, we used high-density silicon probe recordings from frontal cortex area of 9-month-old APP/PS1 mice to show that local field potential power in the theta and beta band is increased in transgenic animals, whereas single-cell firing rates, specifica…

Male0301 basic medicineAgingAlzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1]LevetiracetamAction PotentialsamyloidoosiLocal field potentialAlzheimerin tautiAmyloid beta-Protein Precursor0302 clinical medicineBeta RhythmChemistryPyramidal CellsGeneral Neuroscienceamyloidfood and beveragesAmyloidosisPhenotypePathophysiologyFrontal Lobesingle cellmedicine.anatomical_structureLevetiracetamPyramidal cellAlzheimer’s diseasemedicine.drugNeuroinformaticspatofysiologiaAmyloidmouse modelTransgeneMice Transgenic03 medical and health sciencesAlzheimer Diseasemental disordersPresenilin-1medicineAnimalslocal field potential (LFP)hermosolutDisease Models Animal030104 developmental biologynervous systemfiring rateNeurology (clinical)Geriatrics and GerontologyNeuroscience030217 neurology & neurosurgeryDevelopmental BiologyNeurobiology of Aging
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Shared Genetic Etiology of Obesity-Related Traits and Barrett's Esophagus/Adenocarcinoma: Insights from Genome-Wide Association Studies

2020

Abstract Background: Obesity is a major risk factor for esophageal adenocarcinoma (EA) and its precursor Barrett's esophagus (BE). Research suggests that individuals with high genetic risk to obesity have a higher BE/EA risk. To facilitate understanding of biological factors that lead to progression from BE to EA, the present study investigated the shared genetic background of BE/EA and obesity-related traits. Methods: Cross-trait linkage disequilibrium score regression was applied to summary statistics from genome-wide association meta-analyses on BE/EA and on obesity traits. Body mass index (BMI) was used as a proxy for general obesity, and waist-to-hip ratio (WHR) for abdominal obesity. …

Male0301 basic medicineOncologymedicine.medical_specialtyEsophageal NeoplasmsEpidemiologyQuantitative Trait LocieducationMedizinMEDLINEGenome-wide association studyAdenocarcinomaPolymorphism Single NucleotideRisk AssessmentLinkage DisequilibriumBody Mass IndexBarrett Esophagus03 medical and health sciencesSex Factors0302 clinical medicineMeta-Analysis as TopicRisk FactorsInternal medicineHumansMedicineGenetic Predisposition to DiseaseObesityEsophagusWaist-Hip Ratiobusiness.industryEsophageal cancermedicine.diseaseMedical researchObesityRenal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]030104 developmental biologymedicine.anatomical_structureOncology030220 oncology & carcinogenesisBarrett's esophagusDisease ProgressionAdenocarcinomaFemalebusinessGenome-Wide Association StudyCancer Epidemiology, Biomarkers & Prevention
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Episodic future thinking together with observational learning benefits prospective memory in high-functioning Korsakoff's syndrome patients

2020

Contains fulltext : 219555.pdf (Publisher’s version ) (Open Access) Objective: Patients with Korsakoff's syndrome (KS) have difficulty carrying out tasks which rely on prospective memory (PM). Since remembering to carry out an action in the future is crucial for living independently, it is of primary interest to develop strategies that improve PM performance in KS patients. Design: The study employed a computer categorization task as an ongoing activity into which a PM task was embedded. We included episodic future thinking (EFT) and observational learning (Experiment 2) to boost PM. Methods: Experiment 1 evaluated the efficacy of EFT following written PM task instructions in ten KS patient…

Male050103 clinical psychologymedicine.medical_specialtyAlzheimer`s disease Donders Center for Medical Neuroscience [Radboudumc 1]Memory Episodicprospective memoryalcoholicsAlcohol use disorderAudiologyTask (project management)All institutes and research themes of the Radboud University Medical CenterProspective memorymedicineHumansObservational learning0501 psychology and cognitive sciencesProspective StudiesCognitive skillMemory Disordersfuture thinkingNeuro- en revalidatiepsychologieRecall05 social sciencesNeuropsychology and rehabilitation psychologyOriginal ArticlesGeneral MedicineMiddle AgedKorsakoff’s syndromemedicine.diseasefuture event stimulationClinical PsychologyKorsakoff Syndromeobservational learningCategorizationFemaleOriginal ArticleKorsakoff's syndromePsychology
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Dopamine and serotonin transporter genotypes moderate sensitivity to maternal expressed emotion: the case of conduct and emotional problems in attent…

2009

Contains fulltext : 80906.pdf (Publisher’s version ) (Closed access) BACKGROUND: Mothers' positive emotions expressed about their children with attention deficit/hyperactivity disorder (ADHD) are associated with a reduced likelihood of comorbid conduct problems (CP). We examined whether this association with CP, and one with emotional problems (EMO), is moderated by variants within three genes, previously reported to be associated with ADHD and to moderate the impact of environmental risks on conduct and/or emotional problems; the dopamine transporter gene (SLC6A3/DAT1), the dopamine D4 receptor gene (DRD4) and the serotonin transporter gene (SLC6A4/5HTT). METHODS: Seven hundred and twenty-…

Male110 012 Social cognition of verbal communicationGenetics and epigenetic pathways of disease [NCMLS 6]MedizinDopamine transportDevelopmental psychology2738 Psychiatry and Mental Health0302 clinical medicineDevelopmental and Educational PsychologyPerception and Action [DCN 1]Emotional expressionGene–environment interactionChildSerotonin transporterSerotonin Plasma Membrane Transport Proteinsbiology05 social sciences10058 Department of Child and Adolescent PsychiatryMother-Child Relations3. Good healthPsychiatry and Mental healthExpressed EmotionConduct disorderChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalePsychologyFunctional Neurogenomics [DCN 2]050104 developmental & child psychologyAdolescentGenotype610 Medicine & healthChild Behavior DisordersMental health [NCEBP 9]150 000 MR Techniques in Brain FunctionGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesSDG 3 - Good Health and Well-beingmental disordersmedicineAttention deficit hyperactivity disorderExpressed emotionHumans0501 psychology and cognitive sciences2735 Pediatrics Perinatology and Child Healthddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersDopamine transporter3204 Developmental and Educational PsychologyDopamine Plasma Membrane Transport ProteinsReceptors Dopamine D4medicine.diseaseAttention Deficit Disorder with HyperactivityPediatrics Perinatology and Child Healthbiology.protein030217 neurology & neurosurgery
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The relationship between ADHD and key cognitive phenotypes is not mediated by shared familial effects with IQ

2011

BackgroundTwin and sibling studies have identified specific cognitive phenotypes that may mediate the association between genes and the clinical symptoms of attention deficit hyperactivity disorder (ADHD). ADHD is also associated with lower IQ scores. We aimed to investigate whether the familial association between measures of cognitive performance and the clinical diagnosis of ADHD is mediated through shared familial influences with IQ.MethodMultivariate familial models were run on data from 1265 individuals aged 6–18 years, comprising 920 participants from ADHD sibling pairs and 345 control participants. Cognitive assessments included a four-choice reaction time (RT) task, a go/no-go task…

Male110 012 Social cognition of verbal communicationInhibition (Psychology)PsychometricsIntelligenceMedizinPerception and Actions Mental Health [DCN 1]CHILDRENCHILDHOOD ADHDNeuropsychological TestsheritabilityPersonality AssessmentChoice BehaviorDevelopmental psychology0302 clinical medicineExterne » Sonstige EinrichtungenMedicine and Health SciencesPerception and Action [DCN 1]ChildInternal-External ControlApplied PsychologyIntelligence quotientATTENTION-DEFICIT/HYPERACTIVITY DISORDERCognitionEuropeInhibition PsychologicalPsychiatry and Mental healthPhenotypeFemalemedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]AdolescentPsychometricsDEFICIT HYPERACTIVITY DISORDERintermediate phenotypeINHIBITIONImpulsivityMental health [NCEBP 9]behavioral disciplines and activitiesArticle150 000 MR Techniques in Brain FunctioncognitiveADHD; cognitive; heritability; IQ; intermediate phenotype03 medical and health sciencesRewardmental disordersReaction TimemedicineHumansAttention deficit hyperactivity disorderADHDEffects of sleep deprivation on cognitive performanceddc:610SiblingENDOPHENOTYPESDELAY AVERSIONPERFORMANCEmedicine.disease030227 psychiatryAttention Deficit Disorder with HyperactivityIQEndophenotypeMultivariate AnalysisRESPONSE VARIABILITYSUSTAINED ATTENTIONCognition Disorders030217 neurology & neurosurgeryPsychological Medicine
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Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations

2019

IntroductionAnorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.MethodsWe analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina Human Exome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-bas…

MaleANOMALIESCandidate geneHeredityEtiologyMolecular biologylnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]Pathology and Laboratory MedicineSequencing techniquesEXCLUSIONMedicine and Health SciencesExomeDNA sequencingExomeOligonucleotide Array Sequence AnalysisGeneticsSanger sequencingRISKeducation.field_of_studyMultidisciplinaryQRCongenital AnomaliesAnorectal MalformationsGenetic MappingReconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10]Urological cancers Radboud Institute for Health Sciences [Radboudumc 15]OBESITYsymbolsEngineering and TechnologyMedicineFemaleRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Research ArticleAdultQuality ControlCANDIDATE GENESciencePopulationVariant GenotypesBiologysymbols.namesakeSigns and SymptomsDiagnostic MedicineIndustrial EngineeringBIRTH-DEFECTSGeneticsCongenital DisordersHumansAlleleeducationGeneAllelesFistulasNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Dideoxy DNA sequencingGenetic VariationBiology and Life SciencesHuman GeneticsReconstructive and regenerative medicine Radboud Institute for Health Sciences [Radboudumc 10]Research and analysis methodsMolecular biology techniquesBonferroni correctionFGF10Genetic LociREGISTRYEtiologyRenal disorders Radboud Institute for Health Sciences [Radboudumc 11]PLoS One
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Outcome of urgent and elective percutaneous coronary interventions after pharmacologic reperfusion with tenecteplase combined with unfractionated hep…

2003

Item does not contain fulltext OBJECTIVES: The aim of this study was to evaluate percutaneous coronary intervention (PCI) in the Assessment of the Safety and Efficacy of New Thrombolytic Regimens (ASSENT-3) trial. BACKGROUND: In the ASSENT-3 trial, co-therapy with abciximab (ABC) or enoxaparin (ENOX) reduced ischemic complications after ST-elevation acute myocardial infarction treated with tenecteplase when compared with unfractionated heparin (UFH). The effect of these new co-therapies on the results of PCI is unknown. METHODS: Clinical outcomes in patients who received co-therapy with ABC, ENOX, or UFH and subsequently underwent an elective (n = 1,064) or urgent (n = 716) PCI in the ASSEN…

MaleAbciximabmedicine.medical_treatmentMyocardial InfarctionAlbertaBelgiumRecurrenceGermanyAbciximabAngioplasty Balloon CoronaryHeart lung and circulation [UMCN 2.1]Netherlandseducation.field_of_studyAntibodies MonoclonalMiddle AgedTreatment OutcomeItalyElective Surgical ProceduresTissue Plasminogen ActivatorDrug Therapy CombinationFemaleCardiology and Cardiovascular MedicineEnoxaparin sodiummedicine.drugmedicine.medical_specialtymedicine.drug_classPopulationLow molecular weight heparinTenecteplasePlatelet Glycoprotein GPIIb-IIIa ComplexDrug Administration ScheduleImmunoglobulin Fab FragmentsFibrinolytic AgentsInternal medicineNorth CarolinamedicineHumansEnoxaparineducationEmergency TreatmentSwedenHeparinbusiness.industryAnticoagulantsPercutaneous coronary interventionSurvival AnalysisSurgerySpainConventional PCITenecteplasebusinessFibrinolytic agentJournal of the American College of Cardiology
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