Search results for "consort"

showing 10 items of 121 documents

Shared genetic etiology between alcohol dependence and major depressive disorder

2018

Supplemental Digital Content is available in the text.

Male0301 basic medicineOncologyAlcoholism/geneticsMultifactorial Inheritancealcohol dependenceMedizinGenome-wide association study0302 clinical medicineRisk FactorsGermanyMedicineGenetics (clinical)Brief ReportRegression analysisAlcoholismPsychiatry and Mental healthpolygenic risk scoresMeta-analysisComputingMethodologies_DOCUMENTANDTEXTPROCESSINGRegression AnalysisMajor depressive disorderdisease comorbidityDepressive Disorder Major/geneticsmedicine.medical_specialtyBFPolymorphism Single Nucleotide03 medical and health sciencespsychiatric genomics consortiumInternal medicineGeneticsHumansGenetic Predisposition to Diseaseddc:610Biological PsychiatryDepressive Disorder Majormajor depressive disorderbusiness.industryAlcohol dependenceCase-control studymedicine.diseaseComorbidity030104 developmental biologySample size determinationCase-Control Studiesgenome-wide association studiesRC0321business030217 neurology & neurosurgeryGenome-Wide Association Study
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Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis

2018

ObjectivePrimary sclerosing cholangitis (PSC) is a genetically complex, inflammatory bile duct disease of largely unknown aetiology often leading to liver transplantation or death. Little is known about the genetic contribution to the severity and progression of PSC. The aim of this study is to identify genetic variants associated with PSC disease progression and development of complications.DesignWe collected standardised PSC subphenotypes in a large cohort of 3402 patients with PSC. After quality control, we combined 130 422 single nucleotide polymorphisms of all patients—obtained using the Illumina immunochip—with their disease subphenotypes. Using logistic regression and Cox proportiona…

Male0301 basic medicineOncologyCandidate geneCholangitismedicine.medical_treatmentMedizinTrasplantament hepàticGenome-wide association studyKaplan-Meier EstimateLIVER FIBROSISLiver transplantationBioinformaticsSclerosingOral and gastrointestinalPrimary sclerosing cholangitis; genetics; liver transplantationCohort StudiesACTIVATION0302 clinical medicineMED/12 - GASTROENTEROLOGIAMULTIPLE2.1 Biological and endogenous factorsEPIDEMIOLOGYgeneticsAetiologyCIRRHOSISliver transplantationBilious diseases and biliousnessPrimary sclerosing cholangitisLiver Diseasedigestive oral and skin physiologyGastroenterologySingle NucleotidePrimary sclerosing cholangitiMiddle Aged3. Good healthULCERATIVE-COLITISDisease ProgressionFemale030211 gastroenterology & hepatologyAdultmedicine.medical_specialtyCholangitis SclerosingChronic Liver Disease and CirrhosisClinical SciencesMalalties del tracte biliarSingle-nucleotide polymorphismHEPATIC STELLATE CELLSPolymorphism Single NucleotideInternational PSC Study GroupArticlePrimary sclerosing cholangitisPaediatrics and Reproductive Medicine03 medical and health sciencesRare DiseasesClinical ResearchInternal medicineGeneticsmedicineHumansPolymorphismGENOME-WIDE ASSOCIATIONAlleleDigestive Diseases - (Gallbladder)Survival analysisProportional Hazards ModelsMALIGNANCYThe UK PSC ConsortiumTransplantationGastroenterology & Hepatologybusiness.industryProportional hazards modelmedicine.diseaseRISK LOCILogistic Models030104 developmental biology3121 General medicine internal medicine and other clinical medicinegeneticHepatic transplantationThrombospondinsDigestive DiseasesbusinessGenèticaGut
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Daily energy expenditure through the human life course

2021

Total daily energy expenditure (“total expenditure”, MJ/d) reflects daily energy needs and is a critical variable in human health and physiology, yet it is unclear how daily expenditure changes over the life course. Here, we analyze a large, globally diverse database of total expenditure measured by the doubly labeled water method for males and females aged 8 days to 95 yr. We show that total expenditure is strongly related to fat free mass in a power-law manner and identify four distinct metabolic life stages. Fat free mass-adjusted daily expenditure accelerates rapidly in neonates (0-1yr) to ~46% above adult values at ~1 yr, declines slowly throughout childhood and adolescence (1-20 yr) t…

MaleAging030309 nutrition & dietetics[SDV]Life Sciences [q-bio]BASAL METABOLIC-RATELONGITUDINAL ASSESSMENTCHILDRENVDP::Technology: 500::Electrotechnical disciplines: 540SDG 3 – Goede gezondheid en welzijnRC12000302 clinical medicinePregnancy80 and overGlobal healthWATER030212 general & internal medicineDEPOSITIONYoung adultChildAged 80 and over2. Zero hunger0303 health sciencesMultidisciplinaryMiddle AgedHuman development (humanity)Child PreschoolSLEEP DURATIONBody CompositionLife course approachFemaleIAEA DLW Database ConsortiumAdultAdolescentGeneral Science & TechnologyDoubly labeled waterArticleYoung Adult03 medical and health sciencesSDG 3 - Good Health and Well-beingmedicineHumansExercise physiologyPreschoolExerciseAgedNutritionPregnancyORGAN SIZEbusiness.industryBody WeightInfant NewbornInfantNewbornmedicine.diseaseCELLULAR-LEVEL APPROACHPHYSICAL-ACTIVITYBasal metabolic rateBasal MetabolismEnergy MetabolismbusinessREQUIREMENTSDemographyScience
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

2011

Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through w…

MaleCancer ResearchCandidate geneEpidemiologyGenome-wide association studyCoronary Artery Disease030204 cardiovascular system & hematologyCardiovascular0302 clinical medicineGENETICS & HEREDITYGenetics (clinical)Genetics0303 health sciencesCardiovascular diseases [NCEBP 14]Middle Aged3. Good healthCYP17A1Genetic EpidemiologyGenome-wide association; Myocardial-infarction; Susceptibility loci; Risk; Atherosclerosis; Metanalysis; LipoproteinMedicineFemaleLife Sciences & BiomedicineResearch ArticleAsian Continental Ancestry GroupAdultRiskSUSCEPTIBILITY LOCIlcsh:QH426-470European Continental Ancestry GroupBiologyPolymorphism Single Nucleotidecoronary artery disease; geneticsWhite People03 medical and health sciencesSDG 3 - Good Health and Well-beingAsian PeopleGenetic variationGeneticsHumansGenetic Predisposition to DiseaseGENOME-WIDE ASSOCIATIONAlleleMolecular BiologyGeneBiologyMETAANALYSISEcology Evolution Behavior and SystematicsGenetic Association StudiesCardiovascular Disease EpidemiologyAlleles030304 developmental biologyAged0604 GeneticsScience & TechnologyCase-control studyGenetic VariationHuman GeneticsOdds ratiolarge-scale gene analysiscoronary artery disease; large-scale gene analysislcsh:GeneticsLIPOPROTEINMYOCARDIAL-INFARCTIONATHEROSCLEROSISCase-Control StudiesGenetics of DiseaseIBC 50K CAD ConsortiumDevelopmental BiologyGenome-Wide Association Study
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Microbial Succession in the Gut: Directional Trends of Taxonomic and Functional Change in a Birth Cohort of Spanish Infants

2014

In spite of its major impact on life-long health, the process of microbial succession in the gut of infants remains poorly understood. Here, we analyze the patterns of taxonomic and functional change in the gut microbiota during the first year of life for a birth cohort of 13 infants. We detect that individual instances of gut colonization vary in the temporal dynamics of microbiota richness, diversity, and composition at both functional and taxonomic levels. Nevertheless, trends discernible in a majority of infants indicate that gut colonization occurs in two distinct phases of succession, separated by the introduction of solid foods to the diet. This change in resource availability causes…

MaleCancer ResearchGene Identification and AnalysisBiodiversityPathogenesisEcological successionGut floraPathology and Laboratory MedicineFecesDiversity indexMedicine and Health SciencesCommunity AssemblyGenome SequencingTaxonomic rankGenetics (clinical)EcologyEcologyMicrobiotaAge FactorsBiodiversityGenomicsBiotaFunctional GenomicsCommunity EcologyHost-Pathogen InteractionsFemaleTaxonomy (biology)Research ArticleAdultDNA Bacteriallcsh:QH426-470Microbial ConsortiaZoologyBiologyMicrobiologyMicrobial EcologyMolecular GeneticsGeneticsHumansMolecular Biology TechniquesSequencing TechniquesCommunity StructureMolecular BiologyEcology Evolution Behavior and Systematics0604 GeneticsBase SequenceEcology and Environmental SciencesInfant NewbornInfantBiology and Life SciencesComputational BiologySequence Analysis DNAComparative Genomicsbiology.organism_classificationDietGastrointestinal Tractlcsh:GeneticsSpecies InteractionsTaxonSpainMetagenomicsSpecies richnessDevelopmental BiologyPLoS Genetics
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Tumor necrosis factor (TNF) and lymphotoxin-a (LTA) polymorphisms and risk of non-hodgkin lymphoma in the interLymph consortium

2010

In an International Lymphoma Epidemiology Consortium pooled analysis, polymorphisms in 2 immune-system-related genes, tumor necrosis factor (TNF) and interleukin-10 (IL10), were associated with non-Hodgkin lymphoma (NHL) risk. Here, 8,847 participants were added to previous data (patients diagnosed from 1989 to 2005 in 14 case-control studies; 7,999 cases, 8,452 controls) for testing of polymorphisms in the TNF -308G>A (rs1800629), lymphotoxin-alpha (LTA) 252A>G (rs909253), IL10 -3575T>A (rs1800890, rs1800896), and nucleotide-binding oligomerization domain containing 2 (NOD2) 3020insC (rs2066847) genes. Odds ratios were estimated for non-Hispanic whites and several ethnic subgroups using 2-…

MaleEpidemiologyTNFGastroenterology0302 clinical medicineRisk Factorsimmune system diseaseshemic and lymphatic diseasesAged 80 and over0303 health scienceseducation.field_of_studyLymphoma Non-Hodgkinnon-Hodgkin lymphomaMiddle Aged3. Good healthInterleukin-10EuropeLTA030220 oncology & carcinogenesisFemaleLymphotoxin alphaAdultmedicine.medical_specialtyCanadaAdolescentTumor necrosis factorMeta- and Pooled AnalysesPopulationPolymorphism Single NucleotideWhite People03 medical and health sciencesYoung AdultInternal medicinemedicineHumansGenetic Predisposition to Diseaseeducation030304 developmental biologyAgedMycosis fungoidesbusiness.industryTumor Necrosis Factor-alphaAustraliaInternational AgenciesInterLymph ConsortiumOdds ratiomedicine.diseaseUnited StatesNon-Hodgkin's lymphomaLymphomaCase-Control StudiesImmunologyMantle cell lymphomalymphotoxin-alphabusinessDiffuse large B-cell lymphoma
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Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits

2020

The genetic background of childhood body mass index (BMI), and the extent to which the well-known associations of childhood BMI with adult diseases are explained by shared genetic factors, are largely unknown. We performed a genome-wide association study meta-analysis of BMI in 61,111 children aged between 2 and 10 years. Twenty-five independent loci reached genome-wide significance in the combined discovery and replication analyses. Two of these, located nearNEDD4LandSLC45A3, have not previously been reported in relation to either childhood or adult BMI. Positive genetic correlations of childhood BMI with birth weight and adult BMI, waist-to-hip ratio, diastolic blood pressure and type 2 d…

MaleGenetic-variationNedd4 Ubiquitin Protein LigasesPooled AnalysisBlood Pressure0302 clinical medicineHuman geneticsMendelian RandomizationYoung adultChildhealth care economics and organizationsBody mass indexAdiposityGenetics & Heredity0303 health sciencesStatistics1184 Genetics developmental biology physiologyGenomicsadulto3. Good healthCardiovascular DiseasesChild PreschoolPhysical SciencesMenarchegenetic-variationpresión sanguíneaMonosaccharide Transport ProteinsGenetic locieducationenfermedades cardiovascularesProstate-specific AntigenGenetic correlation03 medical and health sciencesSDG 3 - Good Health and Well-beingDiabetes MellitusGeneticsHumansprostate-specific antigenStatistical MethodsMolecular BiologyEcology Evolution Behavior and Systematicschildhood0604 Genetics[SDV.GEN]Life Sciences [q-bio]/GeneticsScience & TechnologyEarly Growth Genetics ConsortiumBiology and Life SciencesComputational Biologynutritional and metabolic diseasesSingle nucleotide polymorphismsMendelian Randomization AnalysisBiological TissueDiabetes Mellitus Type 2estudio de asociación genómica completagenetic factorsmendelian randomizationanálisis de la aleatorización mendelianaproteínas de transporte de monosacáridosBody mass index030217 neurology & neurosurgeryMathematicsDemographyDevelopmental BiologyCardiovascular RiskCancer ResearchobesityPhysiologyhumanosadolescenteOverweightQH426-470Genome-wide association studiesWaist–hip ratioMathematical and Statistical TechniquesMedicine and Health Sciencesbody mass index (BMI)Genetics of diseaseGenetics (clinical)2. Zero hungeradiposityMetaanalysisPhysiological ParametersConnective Tissue/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemalemedicine.symptomAnatomypooled analysisLife Sciences & BiomedicineResearch ArticleAdultcardiovascular riskAdolescentBirth weightmenarquiaAdipose tissueBiology3121 Internal medicineResearch and Analysis MethodsmedicineoverweightGenetic Predisposition to DiseaseObesity030304 developmental biologyMenarcheWaist-Hip Ratioíndice de masa corporalBody WeightCardiometabolic Risk Factorspredisposición genética a la enfermedadHeritabilityOverweightGenome Analysisyoung-adultsGenome-wide Associationíndice cintura-caderaYoung-adultsgenome-wide associationGenome-Wide Association StudyPLoS genetics
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Pan-cancer analysis of whole genomes

2020

Publisher's version (útgefin grein)

Maletert promoter mutationsCancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]DNA Mutational AnalysisNormal tissuesystematic analysisGermlineTranscriptome0302 clinical medicineAetiologyCàncerCellular SenescenceCancer0303 health sciencesdna-damageMassive parallel sequencingPan cancerREARRANGEMENTSHigh-Throughput Nucleotide SequencingGenomicsSciences bio-médicales et agricolesTelomereCOMPREHENSIVE3. Good healthTERT PROMOTER MUTATIONSsignatures030220 oncology & carcinogenesisScience & Technology - Other TopicsErfðarannsóknirHuman:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]EvolutionRNA SplicingGenomicsArticleEvolution MolecularStructural variationRC025403 medical and health sciencesSDG 3 - Good Health and Well-beingGeneticgenomicsSYSTEMATIC ANALYSISGeneticsGenomics--Databases.HumansGenetic TestingMolecular BiologySIGNATURESWhole genome sequencing1000 MultidisciplinaryChromothripsisScience & TechnologyRC0254 Neoplasms. Tumors. Oncology (including Cancer)Information DisseminationResearchInstitutes_Networks_Beacons/mcrcPreventionBiology and Life SciencesMolecularOncogenesCloud Computingmedicine.diseaseGenòmicaCompute cloudsMutation570 Life sciences; biologyCOMPREHENSIVE CHARACTERIZATIONGenèticaWhole Genome Sequencing--methodsBackground informationDNA Mutational Analysis ; Evolution ; Genetic / genetics ; Genome ; Genomics ; Germ-Line Mutation / genetics ; High-Throughput Nucleotide Sequencing ; Human / genetics ; Humans ; ICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumMedizinGenomeWhole-genomeGenome mappingNeoplasms2.1 Biological and endogenous factorsPromoter Regions GeneticCàncer -- Aspectes genèticsTelomeraseGeneticsWomen's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]MultidisciplinaryChromothripsisGenomeManchester Cancer Research Centregenomics cancer profiling3rd-DAS10124 Institute of Molecular Life SciencesWomen's cancers Radboud Institute for Health Sciences [Radboudumc 17]Multidisciplinary SciencesParallel sequencingICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumFemaleprofilingMedical GeneticsEngineering sciences. TechnologyBiotechnologyGeneral Science & TechnologyThe Cancer Genome Atlas610 Medicine & healthComputational biologyQH426 GeneticsBiologyConsortium of the International Cancer Genome ConsortiumPromoter RegionsGermline mutationPan-cancer analysisKrabbameinsrannsóknirmedicinecancerddc:610QH426Germ-Line MutationMedicinsk genetikKrabbamein030304 developmental biologyCell ProliferationLANDSCAPEGenome Humancomprehensive characterizationPan-cancer analysis of whole genomesPoint mutationHuman GenomeCancerReproducibility of ResultsSOMATIC MUTATIONSEVOLUTIONCancer sequencing Chromothripsis telomereDNA-DAMAGEMutagenesisPATTERNS3111 BiomedicineCHARACTERIZATION
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Relacion de las festivas aclamaciones, con que celebró ... Valencia la noticia de los ... Desposorios de ... Don Carlos Sebastian de Borbon y Farnes…

1738

Sig. A-E4 Capital grav. Sig. A-E4. - Sense port. - Reclams

Maria Amàlia Reina consort de Carles III Rei d'Espanya Homenatges València (Comunitat Valenciana) 1738 Obres anteriors a 1800Festes València (Comunitat valenciana) 1738 Obres anteriors a 1800Carles III Rei d'Espanya (1716-1788) Homenatges València (Comunitat valenciana) 1738 Obres anteriors a 1800DIG-BH
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