Search results for "Genetic pathways"

showing 10 items of 44 documents

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

2007

Contains fulltext : 53618.pdf (Publisher’s version ) (Closed access) Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We detected homozygous nonsense and frameshift mutations in LCA5 in five families affected with LCA. In a sixth family, the LCA5 transcript was completely absent. LCA5 is expressed widely throughout development, although the phenotype in affected individuals is limited to the eye. Lebercilin localizes to the connecting cilia of photore…

MaleCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]genetic structuresMolecular Sequence DataOptic Atrophy Hereditary LeberNeuroinformatics [DCN 3]Biologymedicine.disease_causeCiliopathiesJoubert syndromeCell LineFrameshift mutationGenomic disorders and inherited multi-system disorders [IGMD 3]MiceTranslational research [ONCOL 3]Chlorocebus aethiopsPerception and Action [DCN 1]GeneticsmedicineNeurosensory disorders [UMCN 3.3]AnimalsHumansCiliaRats WistarEye ProteinsFrameshift MutationRenal disorder [IGMD 9]GeneticsMutationCiliumDisease gene identificationmedicine.diseasePhenotypeeye diseasesPedigreeRatsMice Inbred C57BLGenetic defects of metabolism [UMCN 5.1]Codon NonsenseCOS CellsFemalesense organsFunctional Neurogenomics [DCN 2]Microtubule-Associated ProteinsNature Genetics
researchProduct

A high-density SNP linkage scan with 142 combined subtype ADHD sib pairs identifies linkage regions on chromosomes 9 and 16

2008

As part of the International Multi-centre ADHD Gene (IMAGE) project we have completed an affected sibling pair study of 142 narrowly defined DSM-IV combined type ADHD proband-sibling pairs. We found suggestive linkage on chromosomes 9 and 16 with non-parametric multipoint peak LOD scores of 2.13 and 3.1 respectively. There have been several previous ADHD linkage scans. The UCLA study (Fisher et al. 2002; Ogdie et al. 2004; Ogdie et al. 2003), the Dutch study (Bakker et al. 2003), the German study (Hebebrand et al. 2006) and the MGH Study (Faraone et al., submitted) applied the affected sib pair (ASP) strategy; the Columbian study used extended pedigrees ascertained from a population isolate…

MaleGenetics and epigenetic pathways of disease [NCMLS 6]GENOMEWIDE SCANMedizin2804 Cellular and Molecular NeuroscienceCHILDRENComorbidityNeuroinformatics [DCN 3]Severity of Illness IndexDevelopmental psychology2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]HETEROGENEITYIsraelChildGeneticsObserver Variation0303 health sciencesATTENTION-DEFICIT/HYPERACTIVITY DISORDERPSYCHIATRIC-DISORDERSDOPAMINE TRANSPORTER GENEASSOCIATION10058 Department of Child and Adolescent PsychiatryEuropePsychiatry and Mental healthFemalePsychologyChromosomes Human Pair 9linkageFunctional Neurogenomics [DCN 2]GenotypeDEFICIT HYPERACTIVITY DISORDER610 Medicine & healthPolymorphism Single NucleotideMental health [NCEBP 9]Genetic determinismWhite PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]Genetic linkage1312 Molecular BiologymedicineSNPAttention deficit hyperactivity disorderHumansADHDSiblingMolecular Biology030304 developmental biologyLinkage (software)SiblingsChromosomemedicine.diseaseSib pairsUnited Statesaffected sib pairsGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityCONDUCT DISORDERLod ScoreDISEQUILIBRIUM030217 neurology & neurosurgeryChromosomes Human Pair 16
researchProduct

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

2010

Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons. Usin…

MaleGenetics and epigenetic pathways of disease [NCMLS 6][SDV]Life Sciences [q-bio]PenetranceMESH: Base SequenceRegulatory Sequences Nucleic Acidsensorineural hearing lossConnexinsMESH: GenotypeMESH: Hearing Loss Sensorineural/diagnosisMESH: PenetranceGenotypeCopy-number variationGenetics (clinical)Sequence DeletionGeneticsComparative Genomic Hybridization0303 health sciencesMESH: Genetic TestingMESH: Gene Expression Regulation*030305 genetics & heredityPenetranceGJB2PedigreeConnexin 26MESH: Sequence Deletion*MESH: Hearing Loss Sensorineural/geneticsFemaleChromosome DeletionFunctional Neurogenomics [DCN 2]GJB6GenotypeMESH: PedigreeMESH: Chromosome DeletionHearing Loss SensorineuralMolecular Sequence Dataconnexin 26connexin 30DFNB1gene expression regulationGJB2GJB6sensorineural hearing losssequence deletionBiologyMESH: Connexin 30MESH: Connexins/genetics*MESH: Sequence Homology Nucleic AcidArticleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesMonoallelic MutationGJB6MESH: Connexin 26Sequence Homology Nucleic AcidConnexin 30otorhinolaryngologic diseasesGeneticsHumansGenetic TestingAlleleGeneMESH: Regulatory Sequences Nucleic Acid/genetics*AllelesDFNB1030304 developmental biologyFamily HealthMESH: HumansMESH: Molecular Sequence DataBase SequenceChromosomes Human Pair 13MESH: AllelesBreakpointMESH: MaleMESH: Comparative Genomic HybridizationGene Expression RegulationMESH: Family Healthbiology.proteinHuman medicineMESH: Chromosomes Human Pair 13/geneticsMESH: FemaleClinical Genetics
researchProduct

Partial replication of a DRD4 association in ADHD individuals using a statistically derived quantitative trait for ADHD in a family-based association…

2007

Contains fulltext : 52515.pdf (Publisher’s version ) (Closed access) BACKGROUND: Previous research found an association between single nucleotide polymorphisms (SNPs) in the promoter region of DRD4 and statistically derived phenotypes generated from attention-deficit/hyperactivity disorder (ADHD) symptoms. We sought to replicate this finding by using the same methodology in an independent sample of ADHD individuals. METHODS: Four SNPs were genotyped in and around DRD4 in 2631 individuals in 642 families. We developed a quantitative phenotype at each SNP by weighting nine inattentive and nine hyperactive-impulsive symptoms. The weights were selected to maximize the heritability at each SNP. …

MaleLinkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Databases FactualMedizinNeuroinformatics [DCN 3]Severity of Illness Index0302 clinical medicinePerception and Action [DCN 1]Determinants in Health and Disease [EBP 1]ChildPromoter Regions GeneticGenetics0303 health sciencesEuropePhenotypeChild PreschoolFemalemedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]medicine.medical_specialtyAdolescentSingle-nucleotide polymorphismQuantitative trait locusImpulsivityMental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesQuantitative Trait HeritableCognitive neurosciences [UMCN 3.2]Genetic modelmental disordersmedicineAttention deficit hyperactivity disorderSNPHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersPsychiatryBiological Psychiatry030304 developmental biologyFamily HealthReceptors Dopamine D4Heritabilitymedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryBiological psychiatry
researchProduct

Population differences in the International Multi-Centre ADHD Gene Project.

2008

Contains fulltext : 71443.pdf (Publisher’s version ) (Closed access) The International Multi-Centre ADHD Gene sample consists of 674 families from eight countries (Belgium, England, Germany, Holland, Ireland, Israel, Spain, and Switzerland) ascertained from clinics for combined-type attention definity hyperactivity disorder in an offspring. 863 SNPs were successfully genotyped across 47 autosomal genes implicated in psychiatric disorders yielding a single nucleotide polymorphism (SNP) density of approximately one SNP per 2.5 kb. A global test of heterogeneity showed 269 SNPs nominally significant (expected 43). Inclusion of the Israeli population accounted for approximately 70% of these nom…

MaleLinkage disequilibriumInternationalityGenetics and epigenetic pathways of disease [NCMLS 6]EpidemiologyMedizinNeuroinformatics [DCN 3]Linkage Disequilibrium0302 clinical medicineGene FrequencyPerception and Action [DCN 1]International HapMap ProjectIsraelChildGenetics (clinical)0303 health scienceseducation.field_of_studyChromosome MappingSDG 10 - Reduced Inequalities10058 Department of Child and Adolescent PsychiatryGeographyChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/reduced_inequalitiesFemaleFunctional Neurogenomics [DCN 2]Genetic Markers2716 Genetics (clinical)AdolescentPopulationSample (statistics)Single-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Polymorphism Single NucleotideWhite PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCognitive neurosciences [UMCN 3.2]SNPHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendalterseducationGene030304 developmental biologyGenetic VariationGenetics PopulationGenetic defects of metabolism [UMCN 5.1]HaplotypesSample size determinationAttention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryDemography2713 Epidemiology
researchProduct

Cotransmission of conduct problems with attention-deficit/hyperactivity disorder: familial evidence for a distinct disorder

2008

Contains fulltext : 69215.pdf (Publisher’s version ) (Closed access) Common disorders of childhood and adolescence are attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder (ODD) and conduct disorder (CD). For one to two cases in three diagnosed with ADHD the disorders may be comorbid. However, whether comorbid conduct problems (CP) represents a separate disorder or a severe form of ADHD remains controversial. We investigated familial recurrence patterns of the pure or comorbid condition in families with at least two children and one definite case of DSM-IV ADHDct (combined-type) as part of the International Multicentre ADHD Genetics Study (IMAGE). Using case diagno…

MaleNeurologyPsychometricsGenetics and epigenetic pathways of disease [NCMLS 6]MedizinComorbidityNeuroinformatics [DCN 3]Severity of Illness Index2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]ChildAge Factors10058 Department of Child and Adolescent PsychiatryPsychiatry and Mental health2728 Neurology (clinical)NeurologyConduct disorderFemalePsychology2803 Biological PsychiatryFunctional Neurogenomics [DCN 2]Clinical psychologyConduct Disordermedicine.medical_specialtyAdolescentPsychometrics610 Medicine & healthMental health [NCEBP 9]behavioral disciplines and activitiesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCognitive neurosciences [UMCN 3.2]Severity of illnessmental disordersmedicineAttention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersPsychiatryBiological PsychiatryFamily HealthReproducibility of Resultsmedicine.diseaseComorbidity030227 psychiatryHyperkinetic disorderGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityRelative risk2808 NeurologyMultivariate AnalysisNeurology (clinical)030217 neurology & neurosurgeryJournal of Neural Transmission
researchProduct

The TP53 colorectal cancer international collaborative study on the prognostic and predictive significance of p53 mutation: influence of tumor site, …

2005

Purpose The aims of the TP53 Colorectal Cancer (CRC) International Collaborative Study were to evaluate the possible associations between specific TP53 mutations and tumor site, and to evaluate the prognostic and predictive significance of these mutations in different site, stage, and treatment subgroups. Patients and Methods A total of 3,583 CRC patients from 25 different research groups in 17 countries were recruited to the study. Patients were divided into three groups according to site of the primary tumor. TP53 mutational analyses spanned exons 4 to 8. Results TP53 mutations were found in 34% of the proximal colon tumors and in 45% of the distal colon and rectal tumors. They were assoc…

MaleOncologyCancer Researchmedicine.medical_specialtyPathologyRECTAL-CARCINOMATumor suppressor geneColorectal cancerLymphovascular invasionMICROSATELLITE INSTABILITYCELL LUNG-CANCERDNA Mutational AnalysisALLELIC LOSSDUKES STAGE-BMOLECULAR MARKERSInternal medicineAntineoplastic Combined Chemotherapy ProtocolsHumansMedicineGenetic Predisposition to DiseaseNeoplasm InvasivenessStage (cooking)neoplasmsSurvival rateAgedNeoplasm Stagingbusiness.industryCOLON-CANCERMicrosatellite instabilityZINC-BINDING DOMAINExonsMiddle AgedWILD-TYPE P53medicine.diseaseAdenocarcinoma MucinousPrimary tumorSurvival RateOncologyChemotherapy AdjuvantMutationAdenocarcinomaFemaleZINC-BINDING DOMAIN; CELL LUNG-CANCER; DUKES STAGE-B; WILD-TYPE P53; GENETIC PATHWAYS; COLON-CANCER; MICROSATELLITE INSTABILITY; MOLECULAR MARKERS; RECTAL-CARCINOMA; ALLELIC LOSSGENETIC PATHWAYSTumor Suppressor Protein p53Colorectal NeoplasmsbusinessFollow-Up Studies
researchProduct

Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.

2008

Contains fulltext : 70497.pdf (Publisher’s version ) (Closed access) Studies of gene x environment (G x E) interaction in ADHD have previously focused on known risk genes for ADHD and environmentally mediated biological risk. Here we use G x E analysis in the context of a genome-wide association scan to identify novel genes whose effects on ADHD symptoms and comorbid conduct disorder are moderated by high maternal expressed emotion (EE). SNPs (600,000) were genotyped in 958 ADHD proband-parent trios. After applying data cleaning procedures we examined 429,981 autosomal SNPs in 909 family trios. ADHD symptom severity and comorbid conduct disorder was measured using the Parental Account of Ch…

MaleParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceHostilityNeuroinformatics [DCN 3]2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyPerception and Action [DCN 1]Gene–environment interactionParent-Child RelationsChildGenetics (clinical)NeuregulinsbiologySLC1A1Intracellular Signaling Peptides and Proteins10058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthExpressed EmotionExcitatory Amino Acid Transporter 3Conduct disorderChild PreschoolFemalemedicine.symptomFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)AdolescentQuantitative Trait Loci610 Medicine & healthSingle-nucleotide polymorphismContext (language use)Mental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]Interviews as Topic03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersmedicineExpressed emotionHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAllelesProbabilityModels Geneticbusiness.industryGenome Humanmedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitybiology.proteinbusiness030217 neurology & neurosurgeryGenome-Wide Association Study
researchProduct

Differential dopamine receptor D4 allele association with ADHD dependent of proband season of birth

2008

Contains fulltext : 70196.pdf (Publisher’s version ) (Closed access) Season of birth (SOB) has been associated with attention deficit hyperactivity disorder (ADHD) in two existing studies. One further study reported an interaction between SOB and genotypes of the dopamine D4 receptor (DRD4) gene. It is important that these findings are further investigated to confirm or refute the findings. In this study, we investigated the SOB association with ADHD in four independent samples collected for molecular genetic studies of ADHD and found a small but significant increase in summer births compared to a large population control dataset. We also observed a significant association with the 7-repeat…

MaleProbandLinkage disequilibriumSeason of birthGenetics and epigenetic pathways of disease [NCMLS 6]MedizinPhysiologyNeuroinformatics [DCN 3]Mental health [NCEBP 9]Linkage DisequilibriumGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineCognitive neurosciences [UMCN 3.2]mental disordersmedicineDopamine receptor D4Perception and Action [DCN 1]HumansAttention deficit hyperactivity disorderddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleGene–environment interactionChildAllelesGenetics (clinical)biologyReceptors Dopamine D4Parturitionmedicine.disease030227 psychiatry3. Good healthPsychiatry and Mental healthVariable number tandem repeatGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityChild Preschoolbiology.proteinFemaleSeasonsFunctional Neurogenomics [DCN 2]030217 neurology & neurosurgery
researchProduct

Candidate genetic pathways for attention-deficit/hyperactivity disorder (ADHD) show association to hyperactive/impulsive symptoms in children with AD…

2013

Item does not contain fulltext OBJECTIVE: Because multiple genes with small effect sizes are assumed to play a role in attention-deficit/hyperactivity disorder (ADHD) etiology, considering multiple variants within the same analysis likely increases the total explained phenotypic variance, thereby boosting the power of genetic studies. This study investigated whether pathway-based analysis could bring scientists closer to unraveling the biology of ADHD. METHOD: The pathway was described as a predefined gene selection based on a well-established database or literature data. Common genetic variants in pathways involved in dopamine/norepinephrine and serotonin neurotransmission and genes involv…

Malegenetic pathwaysMedizinSocial SciencesGenome-wide association studyDCN PAC - Perception action and controlSeverity of Illness Index/dk/atira/pure/sustainabledevelopmentgoals/clean_water_and_sanitationneuritic outgrowth2738 Psychiatry and Mental HealthDOPAMINE0302 clinical medicineDevelopmental and Educational PsychologyIsraelChildQUANTITATIVE TRAITS10058 Department of Child and Adolescent PsychiatryGenomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3]EuropePsychiatry and Mental healthattention-deficit/hyperactivity disorder symptomsPhenotypeChild PreschoolFemalemedicine.symptomPsychologySDG 6 - Clean Water and Sanitationmedicine.drugClinical psychologymedicine.medical_specialtyDIAGNOSTIC-APPROACHAdolescentGenotypeLARGE MULTICENTER ADHDIDENTIFIES ASSOCIATIONDEFICIT HYPERACTIVITY DISORDERDCN MP - Plasticity and memoryneurotransmitter systems610 Medicine & healthQuantitative trait locusHyperkinesisImpulsivityMental health [NCEBP 9]Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]03 medical and health sciencesDopamineRating scalemedicineCriterion validityddc:61Attention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersDCN PAC - Perception action and control NCEBP 9 - Mental healthGENOME-WIDE ASSOCIATIONNITRIC-OXIDE SYNTHASEPsychiatryGenetic Association StudiesMETAANALYSISPsychiatric Status Rating Scales3204 Developmental and Educational Psychologymedicine.disease030227 psychiatryAttention Deficit Disorder with HyperactivityImpulsive BehaviorEtiologyCRITERION VALIDITY030217 neurology & neurosurgery
researchProduct