Search results for "GENOMICS"

showing 10 items of 1255 documents

International network of cancer genome projects

2010

International audience; The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumors from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of over 25,000 cancer genomes at the genomic, epigenomic, and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically-relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies.

Cancer therapyCarcinogenesisGenetics MedicalInternational CooperationSystems biologyDNA Mutational AnalysiseducationGenomicsBiologyGenomeArticle03 medical and health sciences0302 clinical medicineBreast cancerOncogènesiNeoplasmsDatabases GeneticmedicineCancer genomicsHumansCàncerMolecular BiologyCancer030304 developmental biologyGenetics0303 health sciencesMultidisciplinaryGenome HumanCancer[SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and GastroenterologyGenomicsDNA Methylationmedicine.diseaseIntellectual PropertyHuman genetics3. Good healthCancer Genome Project030220 oncology & carcinogenesisMutationcancer genome projectsHuman genomeGenes Neoplasm
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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
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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
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Pharmacogenomics of Cameroonian traditional herbal medicine for cancer therapy

2011

Abstract Ethnopharmacological relevance A socio-economic burden associated with cancers is reported in Africa. Ethnopharmacological usages such as immune and skin disorders, inflammatory, and others chould be considered when selecting plants used to treat cancer, since these reflect disease states bearing relevance to cancer or a cancer symptoms. Materials and methods Documented compounds of Cameroonian medicinal plants were used as keywords in the National Cancer Institute (NCI) database to establish a library of cytotoxic compounds. Cellular and pharmacogenomic profiling was then performed for the 10 most cytotoxic natural products. By COMPARE and hierarchical cluster analyses, candidate …

Candidate geneMicroarrayCell SurvivalPharmacologyInhibitory Concentration 50chemistry.chemical_compoundCell Line TumorDrug DiscoveryAnimalsCluster AnalysisHumansMedicineCameroonRNA MessengerMedicinal plantsMedicine African TraditionalPharmacologyPlants MedicinalNatural productDose-Response Relationship DrugTraditional medicinebiologybusiness.industryGene Expression ProfilingPlumbaginbiology.organism_classificationAntineoplastic Agents PhytogenicGene Expression Regulation NeoplasticGene expression profilingchemistryDrug Resistance NeoplasmPharmacogeneticsPharmacogenomicsPlant PreparationsDiospyros crassiflorabusinessJournal of Ethnopharmacology
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Gene Set to Diseases (GS2D): disease enrichment analysis on human gene sets with literature data

2016

Large sets of candidate genes derived from high-throughput biological experiments can be characterized by functional enrichment analysis. The analysis consists of comparing the functions of one gene set against that of a background gene set. Then, functions related to a significant number of genes in the gene set are expected to be relevant. Web tools offering disease enrichment analysis on gene sets are often based on gene-disease associations from manually curated or experimental data that is accurate but does not cover all diseases discussed in the literature. Using associations automatically derived from literature data could be a cost effective method to improve the coverage of disease…

Candidate genebusiness.industryBig dataExperimental dataGenomicsBiologycomputer.software_genreSet (abstract data type)WorkflowData miningToxicogenomicsbusinesscomputerGeneGenomics and Computational Biology
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Interacciones dieta-genotipo entre el consumo de grasas y polimorfismos comunes determinando el metabolismo lipídico

2009

Las recomendaciones dietéticas actuales referentes al consumo de grasas en la dieta han sido realizadas sin tener en cuenta las posibles diferencias genéticas de las personas que podrían ser las responsables de las diferentes respuestas interindividuales que frecuentemente se observan ante la misma dieta. La presencia de variabilidad genética ha sido puesta de manifiesto para todos los genes relacionados con el metabolismo lipídico, por lo que existe un ingente número de genes y de variantes genéticas para ser incluidas en los estudios sobre interacciones dieta-genotipo en el ámbito específico del consumo de grasas y aceites. Se revisarán algunos ejemplos sobre interacciones grasa-genotipo.…

Candidate genemedicine.medical_specialtyInteractionPopulationNutrigenéticalcsh:TX341-641BiologyDieta; Genes; Interacción; Lípidos; Nutrigenética; PolimorfismosLípidosNutrigeneticsInteracciónNutrigenéticaInternal medicineAPOA1 GenemedicineTX341-641PPARA GeneGenetic variabilityeducationNutrigeneticsGeneticseducation.field_of_studyNutrition. Foods and food supplyOrganic ChemistryPolimorfismosLipid metabolism:CIENCIAS MÉDICAS [UNESCO]LipidsDietEndocrinologyNutrigenomicsGenesInteracciónUNESCO::CIENCIAS MÉDICASLípidoslipids (amino acids peptides and proteins)DietaPolymorphismslcsh:Nutrition. Foods and food supplyFood Science
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Functional genomics indicate that schizophrenia may be an adult vascular-ischemic disorder

2015

AbstractIn search for the elusive schizophrenia pathway, candidate genes for the disorder from a discovery sample were localized within the energy-delivering and ischemia protection pathway. To test the adult vascular-ischemic (AVIH) and the competing neurodevelopmental hypothesis (NDH), functional genomic analyses of practically all available schizophrenia-associated genes from candidate gene, genome-wide association and postmortem expression studies were performed. Our results indicate a significant overrepresentation of genes involved in vascular function (P<0.001), vasoregulation (that is, perivascular (P<0.001) and shear stress (P<0.01), cerebral ischemia (P<0.001), neurode…

Candidate genemedicine.medical_specialtyPostmortem studiesLong-Term PotentiationBiologySynaptic TransmissionBrain IschemiaBrain ischemiaCellular and Molecular NeuroscienceInternal medicinemedicineHumansGenetic Predisposition to Diseaseddc:610Biological PsychiatryNeuronal PlasticityNeurogenesisGlutamate receptorLong-term potentiationGenomicsmedicine.diseasePsychiatry and Mental healthEndocrinologySchizophreniaSynaptic plasticitySchizophreniaOriginal ArticleNeuroscienceGenome-Wide Association Study
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Pharmacogenomics: a tool to prevent and cure coronary heart disease.

2007

Inflammation and genetics play an important role in the pathogenesis of coronary heart disease (CHD). This is supported by epidemiological studies which have thoroughly investigated the association between CHD and gene polymorphisms of the inflammatory molecules. Moreover, efforts to find elective therapy have not been rewarding and, despite the increasing appreciation of the role of genetics in CHD and myocardial infarction (MI) pathogenesis, pharmacogenomic approaches to uncover drug target have not been extensively explored. A critical search of published literature has suggested few inflammatory genes directly involved in the risk to develop CHD and MI. The selected genes are, the pro- …

Candidate genepharmacogenomicLipoxygenaseLipopolysaccharide ReceptorsMyocardial InfarctionCoronary DiseaseDiseaseBioinformaticsRisk AssessmentPathogenesisRisk FactorsDrug DiscoverymedicinecytokineHumansGenetic Predisposition to DiseaseMyocardial infarctionTLR4PharmacologyInflammationPolymorphism Geneticbusiness.industryPatient SelectionCase-control studyCOXLOXmedicine.diseaseAtherosclerosisToll-Like Receptor 4Treatment OutcomePharmacogeneticsProstaglandin-Endoperoxide SynthasesPharmacogenomicsCase-Control StudiesImmunologyCytokinesReceptors ChemokineChemokinesbusinessRisk assessmentCD14CCR5PharmacogeneticsCurrent pharmaceutical design
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Whole-Genome Re-Sequencing Data to Infer Historical Demography and Speciation Processes in Land Snails: the Study of Two Candidula Sister Species

2021

Despite the global biodiversity of terrestrial gastropods and their ecological and economic importance, the genomic basis of ecological adaptation and speciation in land snail taxa is still largely unknown. Here, we combined whole-genome re-sequencing with population genomics to evaluate the historical demography and the speciation process of two closely related species of land snails from western Europe, Candidula unifasciata and C. rugosiuscula. Historical demographic analysis indicated fluctuations in the size of ancestral populations, probably driven by Pleistocene climatic fluctuations. Although the current population distributions of both species do not overlap, our approximate Bayesi…

Candidula unifasciatabiologywhole-genome re-sequencingDemographic historyGastropodaCandidulaReproductive isolationbiology.organism_classificationdemographic historyGeneral Biochemistry Genetics and Molecular BiologyEcological speciationGene flowPopulation genomicsapproximate Bayesian computationEvolutionary biologyGenetic algorithmecological speciationGeneral Agricultural and Biological Sciencesgene flow
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Human Embryonic Stem Cell Derived Hepatocyte-Like Cells as a Tool for In Vitro Hazard Assessment of Chemical Carcinogenicity

2011

Hepatocyte-like cells derived from the differentiation of human embryonic stem cells (hES-Hep) have potential to provide a human relevant in vitro test system in which to evaluate the carcinogenic hazard of chemicals. In this study, we have investigated this potential using a panel of 15 chemicals classified as noncarcinogens, genotoxic carcinogens, and nongenotoxic carcinogens and measured whole-genome transcriptome responses with gene expression microarrays. We applied an ANOVA model that identified 592 genes highly discriminative for the panel of chemicals. Supervised classification with these genes achieved a cross-validation accuracy of > 95%. Moreover, the expression of the response g…

Carcinogenicity TestsCellular differentiationCell Culture TechniquesGene Expressionsystems toxicologyComputational biologyBiologyToxicologymedicine.disease_causeHazardous SubstancesTranscriptomecomputational biologyCytochrome P-450 Enzyme SystemNaturvetenskapmedicinecarcinogenicityHumansMicroscopy Phase-ContrastEmbryonic Stem CellsCarcinogenAnalysis of VarianceDose-Response Relationship DrugReverse Transcriptase Polymerase Chain ReactionMicroarray analysis techniquesGene Expression ProfilingReproducibility of Resultsrisk assessmentCell DifferentiationMicroarray AnalysisImmunohistochemistryEmbryonic stem cellMolecular biologyGene expression profilingCell culturetoxicogenomicsCarcinogensHepatocytesNatural SciencesCarcinogenesisToxicological Sciences
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