Search results for "perception and action"

showing 10 items of 43 documents

The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperacti…

2008

Contains fulltext : 70708.pdf (Publisher’s version ) (Open Access) ABSTRACT: BACKGROUND: Low serotonergic (5-HT) activity correlates with increased impulsive-aggressive behavior, while the opposite association may apply to cognitive impulsiveness. Both types of impulsivity are associated with attention-deficit/hyperactivity disorder (ADHD), and genes of functional significance for the 5-HT system are implicated in this disorder. Here we demonstrate the separation of aggressive and cognitive components of impulsivity from symptom ratings and test their association with 5-HT and functionally related genes using a family-based association test (FBAT-PC). METHODS: Our sample consisted of 1180 o…

2805 Cognitive Neurosciencemedicine.medical_specialtyNeurologyGenetics and epigenetic pathways of disease [NCMLS 6]Cognitive NeuroscienceMedizin610 Medicine & healthNeuroinformatics [DCN 3]SerotonergicImpulsivityMental health [NCEBP 9]lcsh:RC346-429Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesBehavioral Neuroscience0302 clinical medicineCognitive neurosciences [UMCN 3.2]2802 Behavioral NeurosciencePerception and Action [DCN 1]medicineAttention deficit hyperactivity disorderddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAssociation (psychology)Psychiatrylcsh:Neurology. Diseases of the nervous systemBiological PsychiatryAggressionResearchCognitionGeneral Medicine10058 Department of Child and Adolescent Psychiatrymedicine.disease030227 psychiatryAutism spectrum disordermedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]2803 Biological Psychiatry030217 neurology & neurosurgeryClinical psychology
researchProduct

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.

2007

Peters, T.A./0000-0001-8443-5500; van Beersum, Sylvia E.C./0000-0002-4552-2908; Cremers, Frans/0000-0002-4954-5592; Roepman, Ronald/0000-0002-5178-8163 WOS: 000247619800019 PubMed: 17558407 Protein- protein interaction analyses have uncovered a ciliary and basal body protein network that, when disrupted, can result in nephronophthisis ( NPHP), Leber congenital amaurosis, Senior- Loken syndrome ( SLSN) or Joubert syndrome ( JBTS)(1-6). However, details of the molecular mechanisms underlying these disorders remain poorly understood. RPGRIP1- like protein ( RPGRIP1L) is a homolog of RPGRIP1 ( RPGR-interacting protein 1), a ciliary protein defective in Leber congenital amaurosis(7,8). We show t…

AdultMaleHealth aging / healthy living [IGMD 5]Eye DiseasesGenetics and epigenetic pathways of disease [NCMLS 6]TMEM67Molecular Sequence DataMembrane transport and intracellular motility [NCMLS 5]Biologymedicine.disease_causeJoubert syndromeCell LineGenomic disorders and inherited multi-system disorders [IGMD 3]NephronophthisisCerebellar DiseasesGeneticsmedicinePerception and Action [DCN 1]Basal bodyAnimalsHumansNeurosensory disorders [UMCN 3.3]CiliaAdaptor Proteins Signal TransducingRenal disorder [IGMD 9]GeneticsMutationCiliumCiliary transition zoneProteinsSyndromemedicine.diseasePedigreeRatsCytoskeletal ProteinsGenetic defects of metabolism [UMCN 5.1]RPGRIP1LFemaleKidney DiseasesFunctional Neurogenomics [DCN 2]Ciliary Motility Disorders
researchProduct

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

2008

Contains fulltext : 71291.pdf (Publisher’s version ) (Closed access) Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for REEP1 mutations and copy number variations. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients by direct sequencing analysis. Twelve out of 16 mutations were small insertions, deletions or splice site mutations. These changes would result in shifts of the open-reading-frame followed by premature termination of translation and haploins…

AdultMaleMutation rateAdolescentGenotypeHereditary spastic paraplegiaDNA Mutational AnalysisBiologymedicine.disease_causeArticleCognitive neurosciences [UMCN 3.2]Gene duplicationGenotypemedicinePerception and Action [DCN 1]HumansCopy-number variationAge of OnsetMutation frequencyChildAgedAged 80 and overGeneticsMutationHereditary cancer and cancer-related syndromes [ONCOL 1]Spastic Paraplegia HereditaryInfantMembrane Transport ProteinsMiddle Agedmedicine.diseasePedigreePhenotypeChild PreschoolMutationFemaleNeurology (clinical)HaploinsufficiencyFunctional Neurogenomics [DCN 2]
researchProduct

The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.

2006

Contains fulltext : 35205.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, starting in early childhood and persisting into adulthood in the majority of cases. Family and twin studies have demonstrated the importance of genetic factors and candidate gene association studies have identified several loci that exert small but significant effects on ADHD. To provide further clarification of reported associations and identify novel associated genes, we examined 1,038 single-nucleotide polymorphisms (SNPs) spanning 51 candidate genes involved in the regulation of neurotransmitter pathways, particularly dopamine, nor…

Candidate geneGenetics and epigenetic pathways of disease [NCMLS 6]MedizinReceptors NicotinicTryptophan HydroxylaseNeuroinformatics [DCN 3]0302 clinical medicinePerception and Action [DCN 1]Determinants in Health and Disease [EBP 1]ChildOncogene ProteinsGenetics0303 health sciencesbiologyDNA POOLING ANALYSISPedigree3. Good healthserotoninPsychiatry and Mental healthConduct disorderChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingMonoamine oxidase AdopaminePsychologyFunctional Neurogenomics [DCN 2]Genetic MarkersAdolescentSynaptosomal-Associated Protein 25Single-nucleotide polymorphismassociation studyPolymorphism Single NucleotideMental health [NCEBP 9]Genetic determinismGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceMONOAMINE-OXIDASE-ACognitive neurosciences [UMCN 3.2]SDG 3 - Good Health and Well-beingmental disordersmedicineHumansAttention deficit hyperactivity disorderADHDGenetic Predisposition to Disease5-HT1B RECEPTOR GENEddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersMonoamine OxidaseMolecular Biology030304 developmental biologyGenetic associationDopamine Plasma Membrane Transport ProteinsSEROTONIN TRANSPORTER GENEDOPAMINE-BETA-HYDROXYLASESiblingsReceptors Dopamine D4candidate genemedicine.diseaseTwin studyPREFERENTIAL TRANSMISSIONHaplotypesCATECHOL-O-METHYLTRANSFERASEAttention Deficit Disorder with HyperactivityCONDUCT DISORDERbiology.proteinnoradrenalineDEFICIT/HYPERACTIVITY DISORDERNO EVIDENCE030217 neurology & neurosurgerylinkage disequilibriumMolecular Psychiatry
researchProduct

Genome-wide association scan of attention deficit hyperactivity disorder

2008

Contains fulltext : 70191.pdf (Publisher’s version ) (Closed access) Results of behavioral genetic and molecular genetic studies have converged to suggest that genes substantially contribute to the development of attention deficit/hyperactivity disorder (ADHD), a common disorder with an onset in childhood. Yet, despite numerous linkage and candidate gene studies, strongly consistent and replicable association has eluded detection. To search for ADHD susceptibility genes, we genotyped approximately 600,000 SNPs in 958 ADHD affected family trios. After cleaning the data, we analyzed 438,784 SNPs in 2,803 individuals comprising 909 complete trios using ADHD diagnosis as phenotype. We present t…

Candidate geneLinkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceGenome-wide association studyNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]Genetics(clinical)ChildGenetics (clinical)Genetics0303 health sciencesHomozygote10058 Department of Child and Adolescent PsychiatrySNP genotypingPsychiatry and Mental healthChild PreschoolData Interpretation Statistical/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFunctional Neurogenomics [DCN 2]Algorithms2716 Genetics (clinical)AdolescentSingle-nucleotide polymorphism610 Medicine & healthBiologyMental health [NCEBP 9]Polymorphism Single NucleotideGenetic determinismArticleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]SDG 3 - Good Health and Well-beingmedicineSNPAttention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleles030304 developmental biologyGenome Humanmedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityCase-Control Studies030217 neurology & neurosurgeryGenome-Wide Association Study
researchProduct

Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics stud…

2008

Contains fulltext : 71374.pdf (Publisher’s version ) (Closed access) Attention-deficit/hyperactivity disorder (ADHD) is typically characterized by inattention, excessive motor activity, impulsivity, and distractibility. Individuals with ADHD have significant impairment in family and peer relations, academic functioning, and show high co-morbidity with a wide range of psychiatric disorders including oppositional defiant disorder (ODD), conduct disorder (CD), anxiety disorder, depression, substance abuse, and pervasive developmental disorder (PDD). Family studies suggest that ADHD + CD represents a specific subtype of the ADHD disorder with familial risk factors only partly overlapping with t…

Genetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinPoison controlComorbidityNeuroinformatics [DCN 3]Linkage DisequilibriumCohort Studies2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]Genetics(clinical)ChildGenetics (clinical)Oligonucleotide Array Sequence Analysis0303 health sciencesAntisocial Personality Disorder10058 Department of Child and Adolescent Psychiatry3. Good healthPedigreeEuropePsychiatry and Mental healthConduct disorderAttention Deficit and Disruptive Behavior DisordersADHD -- conduct disorder -- genome wide association study -- genetic association information networkmedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]Anxiety disorderAlgorithmsClinical psychologyConduct DisorderGenetic Markers2716 Genetics (clinical)Quantitative Trait LociContext (language use)610 Medicine & healthChild Behavior DisordersImpulsivityPolymorphism Single NucleotideMental health [NCEBP 9]behavioral disciplines and activitiesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersmedicinePervasive developmental disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und Jugendalters030304 developmental biologyPsychiatric Status Rating ScalesGenome HumanAntisocial personality disordermedicine.diseaseComorbidityGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryGenome-Wide Association Study
researchProduct

Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder

2008

Contains fulltext : 69243.pdf (Publisher’s version ) (Closed access) Genetic contribution to the development of attention deficit hyperactivity disorder (ADHD) is well established. Seven independent genome-wide linkage scans have been performed to map loci that increase the risk for ADHD. Although significant linkage signals were identified in some of the studies, there has been limited replications between the various independent datasets. The current study gathered the results from all seven of the ADHD linkage scans and performed a Genome Scan Meta Analysis (GSMA) to identify the genomic region with most consistent linkage evidence across the studies. Genome-wide significant linkage (P(S…

Genetics and epigenetic pathways of disease [NCMLS 6]Genetic LinkageEuropean Continental Ancestry GroupMedizinGenome ScanBiologyNeuroinformatics [DCN 3]Mental health [NCEBP 9]Genetic determinismWhite PeopleArticleChromosomesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineGene mappingCognitive neurosciences [UMCN 3.2]Genetic linkageGenetic predispositionmedicinePerception and Action [DCN 1]Attention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersGenetics (clinical)030304 developmental biologyProbabilityLinkage (software)Genetics0303 health sciencesGenomeGenome HumanPair 16Chromosome Mappingmedicine.diseasePsychiatry and Mental healthGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityMeta-analysisLod ScoreFunctional Neurogenomics [DCN 2]030217 neurology & neurosurgeryChromosomes Human Pair 16HumanAmerican Journal of Medical Genetics. Part B: Neuropsychiatric Genetics
researchProduct

No association between two polymorphisms of the serotonin transporter gene and combined type attention deficit hyperactivity disorder.

2008

Contains fulltext : 71091.pdf (Publisher’s version ) (Closed access) Several independent studies have reported association between serotonin transporter gene (SLC6A4) polymorphisms and attention deficit hyperactivity disorder (ADHD). Five studies found evidence for association between the long-allele of a 44-bp insertion/deletion polymorphism (5-HTTLPR) and ADHD. Another two studies corroborated this finding while a further six studies did not find such an association. For a second polymorphism within the gene, a variable number tandem repeat (VNTR) within intron 2, one study demonstrated that the 12/12 genotype was significantly less frequent in ADHD cases compared to controls, while a sec…

Genetics and epigenetic pathways of disease [NCMLS 6]MedizinNeuroinformatics [DCN 3]0302 clinical medicinePolymorphism (computer science)GenotypePerception and Action [DCN 1]Childhealth care economics and organizationsSerotonin transporterGenetics (clinical)GeneticsSerotonin Plasma Membrane Transport Proteins0303 health sciencesDepression030305 genetics & heredityTransmission disequilibrium testhumanitiesVariable number tandem repeatPsychiatry and Mental healthChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFunctional Neurogenomics [DCN 2]medicine.medical_specialtyAdolescenteducationBiologybehavioral disciplines and activitiesMental health [NCEBP 9]Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCognitive neurosciences [UMCN 3.2]Internal medicinemental disordersmedicineAttention deficit hyperactivity disorderHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAssociation (psychology)Gene030304 developmental biologyFamily HealthPolymorphism Geneticbusiness.industryMood Disordersmedicine.diseaseMoodEndocrinologyMood disordersGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitybiology.proteinbusiness030217 neurology & neurosurgery
researchProduct

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
researchProduct

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
researchProduct