Search results for "VARIATION"

showing 10 items of 2124 documents

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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Large body size variation is linked to low communication success in tandem running ants

2019

AbstractDiversity in animal groups is often assumed to increase group performance. In insect colonies, genetic, behavioral and morphological variation among workers can improve colony functioning and resilience. However, it has been hypothesized that during communication processes, differences between workers, e.g. in body size, could also have negative effects. Tandem running is a common recruitment strategy in ants and allows a leader to guide a nestmate follower to resources. A substantial proportion of tandem runs fail because leader and follower loose contact. Using the ant Temnothorax nylanderi as a model system, we tested the hypothesis that tandem running success is impaired if lead…

Temnothorax nylanderived/biologymedia_common.quotation_subjectved/biology.organism_classification_rank.speciesPhenotypic traitBody sizeBiologyPreferred walking speedVariation (linguistics)Evolutionary biologyPsychological resilienceTandem runningDiversity (business)media_common
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Texte, texture, textile. Variations sur le tissage dans la musique, les arts plastiques et la littérature

2013

International audience

Textetextile[SHS.ART] Humanities and Social Sciences/Art and art history[SHS.ART]Humanities and Social Sciences/Art and art historylittératurearts plastiquesvariations[ SHS.ART ] Humanities and Social Sciences/Art and art historymusiquetissagetextureComputingMilieux_MISCELLANEOUS
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Random Tanglegram Partitions (Random TaPas): An Alexandrian Approach to the Cophylogenetic Gordian Knot

2018

Abstract Symbiosis is a key driver of evolutionary novelty and ecological diversity, but our understanding of how macroevolutionary processes originate extant symbiotic associations is still very incomplete. Cophylogenetic tools are used to assess the congruence between the phylogenies of two groups of organisms related by extant associations. If phylogenetic congruence is higher than expected by chance, we conclude that there is cophylogenetic signal in the system under study. However, how to quantify cophylogenetic signal is still an open issue. We present a novel approach, Random Tanglegram Partitions (Random TaPas) that applies a given global-fit method to random partial tanglegrams of …

Theoretical computer scienceDegree (graph theory)Phylogenetic treeComputer scienceContext (language use)Recursive partitioningVariation (game tree)BiologyClassificationModels BiologicalKnot (unit)CospeciationCongruence (geometry)Extant taxonPhylogeneticsGeneticsAnimalsComputer SimulationSymbiosisPhylogenySoftwareEcology Evolution Behavior and SystematicsCoevolutionSystematic Biology
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Quaternary diversification in European alpine plants: pattern and process

2004

Molecular clock approaches applied previously to European alpine plants suggest that Primula sect. Auricula , Gentiana sect. Ciminalis and Soldanella diversified at the beginning of the Quaternary or well within this period, whereas Globularia had already started diversifying in the (Late–)Tertiary. In the first part of this paper we present evidence that, in contrast to Globularia and Soldanella , the branching patterns of the molecular internal transcribed spacer phylogenies of both Primula and Gentiana are incompatible with a constant–rates birth–death model. In both of these last two taxa, speciation probably decreased through Quaternary times, perhaps because of some niche–filling pro…

Time FactorsExtinctionGeographyModels GeneticbiologyRange (biology)EcologyGenetic VariationSequence Analysis DNAPlantsbiology.organism_classificationGeneral Biochemistry Genetics and Molecular BiologySoldanellaEuropeEvolution MolecularGlobulariaPrimulaSpecies SpecificityRegression AnalysisGlacial periodGeneral Agricultural and Biological SciencesQuaternaryMolecular clockResearch ArticlePhilosophical Transactions of the Royal Society of London. Series B: Biological Sciences
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Has long-term metal exposure induced changes in life history traits and genetic diversity of the enchytraeid worm Cognettia sphagnetorum (Vejd.)?

2004

We studied whether long-term metal exposure has affected life history traits, population growth patterns and genetic diversity of the asexual enchytraeid worm Cognettia sphagnetorum (Vejd.). Enchytraeids from metal contaminated and uncontaminated forest soil were compared by growing them individually in the laboratory and by following their population development in patchily Cu contaminated microcosms. Genetic differences between the two native populations were studied using allozyme electrophoresis. Individuals from the contaminated site had slower growth rate and they produced fewer fragments of larger size when compared to individuals from the uncontaminated site. In patchily Cu contamin…

Time FactorsGenotypeHealth Toxicology and MutagenesisPopulationBiologyToxicologyLife history theoryGene FrequencyAnimalsBody SizeSoil PollutantsOligochaetaLife historyAlleleeducationAllelesEcosystemClonal diversityeducation.field_of_studyGenetic diversityCognettia sphagnetorumEcologyGenetic VariationEnvironmental ExposureGeneral MedicinePollutionTrace ElementsGenetics PopulationMicrocosmCopperEnvironmental Pollution
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Tracing European Founder Lineages in the Near Eastern mtDNA Pool

2000

Founder analysis is a method for analysis of nonrecombining DNA sequence data, with the aim of identification and dating of migrations into new territory. The method picks out founder sequence types in potential source populations and dates lineage clusters deriving from them in the settlement zone of interest. Here, using mtDNA, we apply the approach to the colonization of Europe, to estimate the proportion of modern lineages whose ancestors arrived during each major phase of settlement. To estimate the Palaeolithic and Neolithic contributions to European mtDNA diversity more accurately than was previously achievable, we have now extended the Near Eastern, European, and northern-Caucasus d…

Time FactorsHaplogroup HLineage (evolution)Extrachromosomal InheritanceBiologyDNA MitochondrialHaplogroupMiddle East03 medical and health sciencesGene FrequencyDemic diffusionGeneticsHumansGenetics(clinical)PhylogenyGenetics (clinical)030304 developmental biologyGenetics0303 health sciences030305 genetics & heredityGenetic VariationGene PoolArticlesHaplogroup L3Emigration and ImmigrationFounder EffectEuropeDatabases as TopicHaplotypesMutagenesisEvolutionary biologyGenealogical DNA testHuman mitochondrial DNA haplogroupFounder effectThe American Journal of Human Genetics
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Respiratory mechanics measured by forced oscillations during mechanical ventilation through a tracheal tube

2011

The forced oscillation technique (FOT) allows the measurement of respiratory mechanics in the intensive care setting. The aim of this study was to compare the FOT with a reference method during mechanical ventilation through a tracheal tube. The respiratory impedance spectra were measured by FOT in nine anaesthetized pigs, and resistance and compliance were estimated on the basis of a linear resistance-compliance inertance model. In comparison, resistance and compliance were quantified by the multiple linear regression analysis (LSF) of conventional ventilator waveforms to the equation of motion. The resistance of the sample was found to range from 6 to 21 cmH(2)O s l(-1) and the compliance…

Time FactorsSwinePhysiologyCoefficient of variationmedicine.medical_treatmentBiomedical EngineeringBiophysicsRespiratory physiologyPulmonary complianceForced Oscillation TechniquePhysiology (medical)Intensive careStatisticsmedicineAnimalsLung ComplianceMathematicsMechanical ventilationbusiness.industryReproducibility of ResultsRepeatabilityReference Standardsrespiratory systemRespiration ArtificialInertanceTracheaRespiratory MechanicsNuclear medicinebusinessPhysiological Measurement
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α-Synuclein expression levels do not significantly affect proteasome function and expression in mice and stably transfected PC12 cell lines

2004

α-Synuclein (α-syn) is a small protein of unknown function that is found aggregated in Lewy bodies, the histopathological hallmark of sporadic Parkinson disease and other synucleinopathies. Mutations in the α-syn gene and a triplication of its gene locus have been identified in early onset familial Parkinson disease. α-Syn turnover can be mediated by the proteasome pathway. A survey of published data may lead to the suggestion that overexpression of α-syn wild type, and/or their variants (A53T and A30P), may produce a decrease in proteasome activity and function, contributing to α-syn aggregation. To investigate the relationship between synuclein expression and proteasome function we have s…

Time Factorsanimal diseasesmedicine.disease_causePC12 CellsBiochemistryMicechemistry.chemical_compoundTransgenesPromoter Regions GeneticMice KnockoutGeneticsMutationInnervationBrainParkinson DiseaseProteasome complexAmyloidosisCell biologyInnervacióalpha-SynucleinAdditions and CorrectionsPèptidsPlasmidsProteasome Endopeptidase ComplexPrionsProtein subunitBlotting WesternImmunoblottingSynucleinsMice TransgenicNerve Tissue ProteinsBiologyTransfectionBacterial ProteinsMultienzyme ComplexesmedicineAnimalsImmunoprecipitationMolecular BiologyAlpha-synucleinSynucleinopathiesEpilepsyWild typeGenetic VariationCell BiologyAxonsRatsnervous system diseasesMice Inbred C57BLEpilèpsiaDisease Models AnimalLuminescent ProteinschemistryProteasomenervous systemSinapsiMutationSynapsesSynucleinAmiloïdosiPeptides
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Finite element method for a nonlocal Timoshenko beam model

2014

A finite element method is presented for a nonlocal Timoshenko beam model recently proposed by the authors. The model relies on the key idea that nonlocal effects consist of long-range volume forces and moments exchanged by non-adjacent beam segments, which contribute to the equilibrium of a beam segment along with the classical local stress resultants. The long-range volume forces/moments are linearly depending on the product of the volumes of the interacting beam segments, and their relative motion measured in terms of the pure beam deformation modes, through appropriate attenuation functions governing the spatial decay of nonlocal effects. In this paper, the beam model is reformulated wi…

Timoshenko beam theoryFinite element methodApplied MathematicsGeneral EngineeringStiffnessPure deformation modeComputer Graphics and Computer-Aided DesignFinite element methodLong-range interactionClassical mechanicsVariational formulationBending stiffnessStress resultantsNonlocal Timoshenko beammedicineDirect stiffness methodmedicine.symptomAnalysisBeam (structure)Stiffness matrixMathematics
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