Search results for "research article"

showing 10 items of 4621 documents

Identification of loci of functional relevance to Barrett's esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative tra…

2019

Esophageal adenocarcinoma (EA) and its precancerous condition Barrett's esophagus (BE) are multifactorial diseases with rising prevalence rates in Western populations. A recent meta-analysis of genome-wide association studies (GWAS) data identified 14 BE/EA risk loci located in non-coding genomic regions. Knowledge about the impact of non-coding variation on disease pathology is incomplete and needs further investigation. The aim of the present study was (i) to identify candidate genes of functional relevance to BE/EA at known risk loci and (ii) to find novel risk loci among the suggestively associated variants through the integration of expression quantitative trait loci (eQTL) and genetic…

0301 basic medicineCandidate geneEsophageal MucosaEsophageal NeoplasmsMedizinGene ExpressionGenome-wide association study0302 clinical medicineMathematical and Statistical TechniquesGeneticsMultidisciplinarySodium-Hydrogen Exchanger 3QStatisticsRGenomicsMetaanalysisGene Expression Regulation NeoplasticResearch Design030220 oncology & carcinogenesisPhysical SciencesMedicineResearch Articlemedicine.medical_specialtyScienceQuantitative Trait LociReplication StudiesContext (language use)BiologyAdenocarcinomaResearch and Analysis MethodsPolymorphism Single NucleotideMolecular Genetics03 medical and health sciencesBarrett EsophagusMolecular geneticsmedicineGeneticsGenome-Wide Association StudiesHumansGenetic Predisposition to DiseaseGene RegulationStatistical MethodsGeneMolecular BiologyGenetic associationProteinsBiology and Life SciencesComputational BiologyHuman Geneticsmedicine.diseaseGenome AnalysisRepressor Proteins030104 developmental biologyGenetic LociBarrett's esophagusExpression quantitative trait lociGenetics of DiseaseMathematicsGenome-Wide Association StudyPloS one
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Genome-wide scan for runs of homozygosity identifies potential candidate genes associated with local adaptation in Valle del Belice sheep

2017

Background Because very large numbers of single nucleotide polymorphisms (SNPs) are now available throughout the genome, they are particularly suitable for the detection of genomic regions where a reduction in heterozygosity has occurred and they offer new opportunities to improve the accuracy of inbreeding (\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$F$$\end{document}F) estimates. Runs of homozygosity (ROH) are contiguous lengths of homozygous segments of the genome where the two haplotypes inherited from t…

0301 basic medicineCandidate geneGenotypelcsh:QH426-470[SDV]Life Sciences [q-bio]PopulationAnimals chromosomes genotype polymorphism single nucleotide genetic selection sheep population genetics homozygote inbreedingGenome ScanSingle-nucleotide polymorphismRuns of HomozygosityBiologyPolymorphism Single NucleotideGenomeChromosomes03 medical and health sciencesGeneticsAnimalsInbreedingSelection GeneticeducationGeneEcology Evolution Behavior and Systematicslcsh:SF1-1100Geneticseducation.field_of_studySheepHomozygoteHaplotype0402 animal and dairy science04 agricultural and veterinary sciencesGeneral MedicineEcology Evolution Behavior and Systematic040201 dairy & animal sciencelcsh:GeneticsGenetics Population030104 developmental biologyAnimal Science and Zoologylcsh:Animal cultureEcology Evolution Behavior and Systematics; Animal Science and Zoology; GeneticsResearch Article
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Genetic susceptibility to angiotensin-converting enzyme-inhibitor induced angioedema: A systematic review and evaluation of methodological approaches.

2019

Angiotensin-converting enzyme (ACE) converts angiotensin I to angiotensin II which causes vasoconstriction. ACE inhibitors reduce blood pressure by inhibiting ACE. A well-known adverse drug reaction to ACE inhibitors is ACE inhibitor-induced angioedema (ACEi-AE). Angioedema is a swelling of skin and mucosa, which can be fatal if the airway is compromised. We have performed a systematic review of the evidence suggesting that genetic polymorphisms are associated with ACEi-AE and evaluated the methodological approaches of the included studies. The Cochrane Database of Systematic Reviews, Google Scholar, and PubMed were searched. Studies investigating the association between genetic markers and…

0301 basic medicineCandidate geneHeredityACE inhibitorsGenome-wide association studyAngiotensin-Converting Enzyme InhibitorsBioinformatics030226 pharmacology & pharmacyBiochemistryDatabase and Informatics Methods0302 clinical medicineOutcome Assessment Health CareMedicine and Health SciencesDatabase SearchingMultidisciplinarybiologyQRDrugsEnzyme inhibitorsGenomicsResearch AssessmentGenetic MappingSystematic reviewResearch DesignMedicinemedicine.symptomResearch ArticleSystematic ReviewsScienceResearch and Analysis Methods03 medical and health sciencesAdverse ReactionsGenetic predispositionmedicineGenome-Wide Association StudiesGeneticsHumansGenetic Predisposition to DiseaseAngioedemaPharmacologyEvolutionary BiologyPolymorphism GeneticAngioedemaBiology and life sciencesPopulation Biologybusiness.industryCase-control studyComputational BiologyCorrectionAngiotensin-converting enzymeHuman GeneticsGenome AnalysisAngiotensin II030104 developmental biologyHaplotypesCase-Control Studiesbiology.proteinEnzymologyGenetic PolymorphismbusinessPopulation GeneticsPloS one
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Novel and known signals of selection for fat deposition in domestic sheep breeds from Africa and Eurasia

2018

International audience; Genomic regions subjected to selection frequently show signatures such as within-population reduced nucleotide diversity and outlier values of differentiation among differentially selected populations. In this study, we analyzed 50K SNP genotype data of 373 animals belonging to 23 sheep breeds of different geographic origins using the Rsb (extended haplotype homozygosity) and FST statistical approaches, to identify loci associated with the fat-tail phenotype. We also checked if these putative selection signatures overlapped with regions of high-homozygosity (ROH). The analyses identified novel signals and confirmed the presence of selection signature in genomic regio…

0301 basic medicineCandidate geneTopographyEuropean PeopleHeredity[SDV]Life Sciences [q-bio]Social SciencesGenome-wide association studyBreedingBiochemistryHomozygosityNucleotide diversityFatsSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoCell SignalingGenotypePsychologyEthnicitiesBody Fat Distribution2. Zero hungerMammalsIslandssheep fat tail SNP selection sigantures candidate genesMultidisciplinaryAnimal BehaviorQHomozygoteREukaryotaSingle Nucleotide04 agricultural and veterinary sciencesRuminantsPhenotypeLipidsBreedItalian PeopleAfrica; Animals; Asia; Genome-Wide Association Study; Genotype; Homozygote; Phenotype; Polymorphism Single Nucleotide; Sheep; Body Fat Distribution; Breeding; Selection GeneticPhenotypeVertebratesMedicineGenomic Signal ProcessingResearch ArticleSignal TransductionAsiaGenotypeScienceSingle-nucleotide polymorphismGenomicsQuantitative trait locusBiologyAnimal Sexual BehaviorPolymorphism Single NucleotideMolecular Genetics03 medical and health sciencesGeneticGeneticsSNPAnimalsPolymorphismSelection GeneticSelectionMolecular BiologySelection (genetic algorithm)BehaviorLandformsSheep0402 animal and dairy scienceOrganismsBiology and Life SciencesGeomorphologyCell Biology040201 dairy & animal science030104 developmental biologyEvolutionary biologyAmniotesPeople and PlacesAfricaEarth SciencesPopulation GroupingsZoologyGenome-Wide Association Study
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Comparison of Migratory and Resident Populations of Brown Trout Reveals Candidate Genes for Migration Tendency

2018

Abstract Candidate genes associated with migration have been identified in multiple taxa: including salmonids, many of whom perform migrations requiring a series of physiological changes associated with the freshwater–saltwater transition. We screened over 5,500 SNPs for signatures of selection related to migratory behavior of brown trout Salmo trutta by focusing on ten differentially migrating freshwater populations from two watersheds (the Koutajoki and the Oulujoki). We found eight outlier SNPs potentially associated with migratory versus resident life history using multiple (≥3) outlier detection approaches. Comparison of three migratory versus resident population pairs in the Koutajoki…

0301 basic medicineCandidate geneTroutPopulationlife-history strategyFresh WaterSingle-nucleotide polymorphismPolymorphism Single NucleotideLife history theoryEvolution Molecular03 medical and health sciencesBrown troutsmoltificationOsmoregulationtaimenbrown troutpopulaatiotsalmonidsGeneticsAnimalsSeawatermigration tendency14. Life underwaterSalmoeducationgenesEcology Evolution Behavior and SystematicsSmoltificationmigratory populationseducation.field_of_studyvaelluskalatgeenitbiologyta1184RADseqbiology.organism_classificationTrout030104 developmental biologyEvolutionary biologypopulaatiogenetiikkata1181Animal Migrationmigratory behaviorresident populationsSalmonidaeResearch ArticleGenome Biology and Evolution
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Genome-wide association mapping for milk fat composition and fine mapping of a QTL for de novo synthesis of milk fatty acids on bovine chromosome 13

2017

Background Bovine milk is widely regarded as a nutritious food source for humans, although the effects of individual fatty acids on human health is a subject of debate. Based on the assumption that genomic selection offers potential to improve milk fat composition, there is strong interest to understand more about the genetic factors that influence the biosynthesis of bovine milk and the molecular mechanisms that regulate milk fat synthesis and secretion. For this reason, the work reported here aimed at identifying genetic variants that affect milk fatty acid composition in Norwegian Red cattle. Milk fatty acid composition was predicted from the nation-wide recording scheme using Fourier tr…

0301 basic medicineCandidate gene[SDV]Life Sciences [q-bio]Quantitative Trait LociGenome-wide association studySingle-nucleotide polymorphismBiologyQuantitative trait locusChromosomes03 medical and health sciencesGeneticsAnimalsGenetics(clinical)GeneEcology Evolution Behavior and Systematics2. Zero hungerGeneticschemistry.chemical_classificationHaplotypeFatty Acids0402 animal and dairy scienceFatty acidChromosomeChromosome Mapping04 agricultural and veterinary sciencesGeneral Medicine040201 dairy & animal science030104 developmental biologyMilkchemistryAnimal Science and ZoologyCattleFemaleGenome-Wide Association StudyResearch Article
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Fine mapping of a QTL on bovine chromosome 6 using imputed full sequence data suggests a key role for the group-specific component (GC) gene in clini…

2016

Background Clinical mastitis is an inflammation of the mammary gland and causes significant costs to dairy production. It is unfavourably genetically correlated to milk production, and, thus, knowledge of the mechanisms that underlie these traits would be valuable to improve both of them simultaneously through breeding. A quantitative trait locus (QTL) that affects both clinical mastitis and milk production has recently been fine-mapped to around 89 Mb on bovine chromosome 6 (BTA6), but identification of the gene that underlies this QTL was not possible due to the strong linkage disequilibrium between single nucleotide polymorphisms (SNPs) within this region. Our aim was to identify the gen…

0301 basic medicineCandidate gene[SDV]Life Sciences [q-bio]Quantitative Trait LociSingle-nucleotide polymorphismBiologyQuantitative trait locusPolymorphism Single NucleotideLinkage Disequilibrium03 medical and health sciencesMammary Glands AnimalFamily-based QTL mappingGene FrequencyGene duplicationGeneticsAnimalsLactationGenetics(clinical)AlleleGeneMastitis BovineAllelesEcology Evolution Behavior and SystematicsGenetic association2. Zero hungerGeneticsVitamin D-Binding ProteinChromosome MappingGeneral MedicineSequence Analysis DNA030104 developmental biologyMilkHaplotypesCattleFemaleAnimal Science and ZoologyResearch Article
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Ginkgo biloba induces different gene expression signatures and oncogenic pathways in malignant and non-malignant cells of the liver

2018

Ginkgo biloba (EGb761) is a widely used botanical drug. Several reports indicate that EGb761 confers preventive as well as anti-tumorigenic properties in a variety of tumors, including hepatocellular carcinoma (HCC). We here evaluate functional effects and molecular alterations induced by EGb761 in hepatoma cells and non-malignant hepatocytes. Hepatoma cell lines, primary human HCC cells and immortalized human hepatocytes (IH) were exposed to various concentrations (0-1000 μg/ml) of EGb761. Apoptosis and proliferation were evaluated after 72h of EGb761 exposure. Response to oxidative stress, tumorigenic properties and molecular changes were further investigated. While anti-oxidant effects w…

0301 basic medicineCarcinogenesisApoptosismedicine.disease_causeBiochemistryAntioxidantsTranscriptome0302 clinical medicineCell SignalingAnimal CellsMedicine and Health SciencesCellular Stress ResponsesCultured Tumor CellsMultidisciplinaryCell DeathbiologyGinkgo bilobaTOR Serine-Threonine KinasesLiver NeoplasmsQRLiverOncologyCell Processes030220 oncology & carcinogenesisHepatocellular carcinomaMedicineBiological CulturesCellular TypesAnatomyResearch ArticleSignal TransductionCarcinoma HepatocellularNF-E2-Related Factor 2ScienceResearch and Analysis MethodsCell Line03 medical and health sciencesmedicineHumansCell ProliferationOncogenic SignalingPlant ExtractsBiology and Life SciencesGinkgo bilobaCell BiologyCell Culturesbiology.organism_classificationmedicine.diseaseOxidative Stress030104 developmental biologyCell cultureApoptosisCancer cellHepatocytesCancer researchHepatoma CellsTranscriptomeCarcinogenesisOxidative stressPLOS ONE
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Cardiomyocyte proliferation prevents failure in pressure overload but not volume overload

2017

Induction of the cell cycle is emerging as an intervention to treat heart failure. Here, we tested the hypothesis that enhanced cardiomyocyte renewal in transgenic mice expressing cyclin D2 would be beneficial during hemodynamic overload. We induced pressure overload by transthoracic aortic constriction (TAC) or volume overload by aortocaval shunt in cyclin D2-expressing and WT mice. Although cyclin D2 expression dramatically improved survival following TAC, it did not confer a survival advantage to mice following aortocaval shunt. Cardiac function decreased following TAC in WT mice, but was preserved in cyclin D2-expressing mice. On the other hand, cardiac structure and function were compr…

0301 basic medicineCardiac function curvemedicine.medical_specialtyAortic DiseasesVolume overloadCardiomegalyMice TransgenicConstriction Pathologic030204 cardiovascular system & hematologyMice03 medical and health sciences0302 clinical medicineCyclin D2FibrosisInternal medicinemedicineAnimalsCyclin D2Myocytes CardiacCell ProliferationCyclinHeart FailurePressure overloadbusiness.industryGeneral MedicineCell cyclemedicine.disease030104 developmental biologyEndocrinologyHeart failurebusinessResearch ArticleJournal of Clinical Investigation
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Cyclic pentapeptide cRGDfK enhances the inhibitory effect of sunitinib on TGF-β1-induced epithelial-to-mesenchymal transition in human non-small cell…

2020

AbstractIn human lung cancer progression, the EMT process is characterized by the transformation of cancer cells into invasive forms that migrate to other organs. Targeting to EMT-related molecules is emerging as a novel therapeutic approach for the prevention of lung cancer cell migration and invasion. Traf2- and Nck-interacting kinase (TNIK) has recently been considered as an anti-proliferative target molecule to regulate the Wnt signaling pathway in several types of cancer cells. In the present study, we evaluated the inhibitory effect of a tyrosine kinase inhibitor sunitinib and the integrin-αVβ3targeted cyclic peptide (cRGDfK) on EMT in human lung cancer cells. Sunitinib strongly inhib…

0301 basic medicineCell signalingIntegrinsLung NeoplasmsProtein ExpressionCancer TreatmentSmad ProteinsSignal transductionLung and Intrathoracic TumorsTyrosine-kinase inhibitorAdenosine Triphosphate0302 clinical medicineCarcinoma Non-Small-Cell LungCatalytic DomainAntineoplastic Combined Chemotherapy ProtocolsMedicine and Health SciencesSunitinibWnt Signaling PathwayWNT Signaling CascadeMultidisciplinarySunitinibChemistryQRWnt signaling pathwaySignaling cascadesDrug SynergismExtracellular MatrixMolecular Docking SimulationOncology030220 oncology & carcinogenesisMedicineCellular Structures and OrganellesSignal transductionResearch Articlemedicine.drugCell biologySignal InhibitionEpithelial-Mesenchymal TransitionCell Survivalmedicine.drug_classScienceSMAD signalingProtein Serine-Threonine KinasesResearch and Analysis MethodsPeptides CyclicTransforming Growth Factor beta103 medical and health sciencesCell Line TumorGene Expression and Vector TechniquesCell AdhesionBiomarkers TumormedicineHumansNeoplasm InvasivenessEpithelial–mesenchymal transitionMolecular Biology TechniquesLung cancerMolecular BiologyA549 cellMolecular Biology Assays and Analysis TechniquesBiology and life sciencesCancers and NeoplasmsIntegrin alphaVbeta3medicine.diseaseNon-Small Cell Lung Cancer030104 developmental biologyTGF-beta signaling cascadeA549 CellsTNIKCancer cellCancer researchPLOS ONE
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