Search results for "script"

showing 10 items of 5143 documents

Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients

2013

Myotonic dystrophy type 1 (DM1) is caused by the expansion of CTG repeats in the 3' untranslated region of the DMPK gene. Several missplicing events and transcriptional alterations have been described in DM1 patients. A large number of these defects have been reproduced in animal models expressing CTG repeats alone. Recent studies have also reported miRNA dysregulation in DM1 patients. In this work, a Drosophila model was used to investigate miRNA transcriptome alterations in the muscle, specifically triggered by CTG expansions. Twenty miRNAs were differentially expressed in CTG-expressing flies. Of these, 19 were down-regulated, whereas 1 was up-regulated. This trend was confirmed for thos…

Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesDown-RegulationGene ExpressionBiologyMyotonic dystrophyLife ExpectancyGeneticsmedicineAnimalsDrosophila ProteinsHumansMyotonic DystrophyMuscle SkeletalMolecular BiologyCells CulturedGenetics (clinical)Oligonucleotide Array Sequence AnalysisGeneticsBase SequenceLife spanNuclear ProteinsGeneral Medicinemedicine.diseaseMicroRNAsDrosophila melanogasterGene Expression RegulationFemaleTranscriptomeTrinucleotide Repeat Expansion
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Prevention of chemotherapy‐induced cachexia by ACVR2B ligand blocking has different effects on heart and skeletal muscle

2017

Background Toxicity of chemotherapy on skeletal muscles and the heart may significantly contribute to cancer cachexia, mortality, and decreased quality of life. Doxorubicin (DOX) is an effective cytostatic agent, which unfortunately has toxic effects on many healthy tissues. Blocking of activin receptor type IIB (ACVR2B) ligands is an often used strategy to prevent skeletal muscle loss, but its effects on the heart are relatively unknown. Methods The effects of DOX treatment with or without pre-treatment with soluble ACVR2B-Fc (sACVR2B-Fc) were investigated. The mice were randomly assigned into one of the three groups: (1) vehicle (PBS)-treated controls, (2) DOX-treated mice (DOX), and (3) …

Malep53Cachexialcsh:Diseases of the musculoskeletal systemActivin Receptors Type IILigandsdoxorubicinCcl21lcsh:QM1-695MiceAnimalsHumanssytostaattihoitoMuscle SkeletalAntibiotics AntineoplasticactivinsHeartOriginal Articleslcsh:Human anatomyMyostatinActivinsDoxorubicinmyostatinQuality of LifeOriginal Articleproteiinittranskriptomilcsh:RC925-935TranscriptomelihassurkastumasairaudetJournal of Cachexia, Sarcopenia and Muscle
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Toward Prevention of Doping in Youth Sport: Cross-Sectional Analysis of Correlates of Doping Tendency in Swimming.

2019

Doping is recognized as one of the most important problems in sports, but a limited number of studies have investigated doping problems in youth athletes. This study aimed to evaluate doping tendency (potential doping behavior (PDB)) and correlates of PDB in youth age swimmers. The participants were 241 competitive swimmers (131 females

MalepubertyknowledgeYounger ageAdolescentCross-sectional studyHealth Toxicology and MutagenesisSloveniainformation scienceSports nutritionCoachingArticle03 medical and health sciences0302 clinical medicineRisk FactorsAchievement Knowledge Performance enhancement PubertyHumansnatural sciences030212 general & internal medicineRisk factorSwimmingMultinomial logistic regressionDoping in SportsSettore M-EDF/02 - Metodi E Didattiche Delle Attivita' SportiveDescriptive statisticsbiologyAthletesbusiness.industryYouth SportsachievementPublic Health Environmental and Occupational Health030229 sport sciencesbiology.organism_classificationperformance enhancementCross-Sectional StudiesAdolescent BehaviorAthletesFemalePsychologybusinesshuman activitiesachievement ; knowledge ; performance enhancement ; pubertyDemography
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Rac1 GTPase, a multifunctional player in the regulation of genotoxic stress response

2013

The Ras-related C3 botulinum toxin substrate 1 (Rac1) belongs to the Ras-homologous (Rho) family of small GTPases, which transduce signals from the outside to the inside of a cell. Rac1 becomes activated upon ligand binding of a variety of receptors, including receptor tyrosine kinases and heterotrimeric G-protein-coupled receptors. After GTP loading by guanine exchange factors (GEFs), GTP-bound Rac1 engages numerous effector proteins, thereby eventually regulating cell motility and adhesion, cell cycle progression through G1, mitosis and meiosis, as well as cell death and metastasis.1 Besides, Rac1 adjusts cellular responses to genotoxic agents, such as UV light and alkylating agents, by r…

Malerac1 GTP-Binding Proteintopoisomerase IIAgingRHOADNA repairDNA damagep38 mitogen-activated protein kinasesApoptosisRAC1Editorials: Cell Cycle FeaturesDNA damage responseReceptor tyrosine kinasechemical carcinogenesisHistonesMiceTransforming Growth Factor betaRho GTPasesAnimalsMolecular BiologyTranscription factoranthracyclinesMice KnockoutbiologyKinaseNeuropeptidesConnective Tissue Growth FactorHMG-CoA reductase inhibitors (statins)Cell BiologyFibrosisgenotoxic stressActinsrac GTP-Binding ProteinsCell biologyOxidative Stressnormal tissue damageGene Expression RegulationLiverBiochemistryDoxorubicinGamma Raysbiology.proteinFemaleDNA DamageMutagensSignal TransductionDevelopmental BiologyCell Cycle
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Involvement of plasmalogens in post-natal retinal vascular development

2014

Objective: Proper development of retinal blood vessels is essential to ensure sufficient oxygen and nutrient supplies to the retina. It was shown that polyunsaturated fatty acids (PUFAs) could modulate factors involved in tissue vascularization. A congenital deficiency in ether-phospholipids, also termed "plasmalogens'', was shown to lead to abnormal ocular vascularization. Because plasmalogens are considered to be reservoirs of PUFAs, we wished to improve our understanding of the mechanisms by which plasmalogens regulate retinal vascular development and whether the release of PUFAs by calcium-independent phospholipase A2 (iPLA2) could be involved. [br/] Methods and Results: By characterizi…

MaleretinaOrganes des sensAngiogenesis[ SDV.AEN ] Life Sciences [q-bio]/Food and Nutritionlcsh:MedicineRetinal NeovascularizationBiochemistryImmunoenzyme TechniquesMicechemistry.chemical_compoundangiogenesisMedicine and Health Sciencesangiogenesis;astrocytes;capillaries;endothelial cells;gene expression;phospholipids;retina;retinal vesselscapillarieslcsh:ScienceCells CulturedOligonucleotide Array Sequence AnalysisMice KnockoutMultidisciplinarymedicine.diagnostic_testReverse Transcriptase Polymerase Chain ReactionLipidsendothelial cellsCell biologyEndothelial stem cellmedicine.anatomical_structureBiochemistry[ SDV.MHEP.OS ] Life Sciences [q-bio]/Human health and pathology/Sensory OrgansAlimentation et NutritionFatty Acids UnsaturatedRetinal DisordersFemaleResearch ArticleAstrocyteEndotheliumSensory OrgansPlasmalogensBiologyReal-Time Polymerase Chain ReactionGroup VI Phospholipases A2AngiopoietinElectroretinographymedicineFood and NutritionAnimalsRNA Messenger[SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory OrgansphospholipidsRetinaGene Expression Profilinglcsh:Rretinal vesselsastrocytesBiology and Life SciencesRetinalMice Inbred C57BLOphthalmologyAnimals Newbornchemistrygene expressionlcsh:QEndothelium Vascular[SDV.AEN]Life Sciences [q-bio]/Food and NutritionAcyltransferasesBiomarkersDevelopmental BiologyElectroretinography
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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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Increase in transmitted resistance to non-nucleoside reverse transcriptase inhibitors among newly diagnosed HIV-1 infections in Europe

2014

Background: One out of ten newly diagnosed patients in Europe was infected with a virus carrying a drug resistant mutation. We analysed the patterns over time for transmitted drug resistance mutations (TDRM) using data from the European Spread program.Methods: Clinical, epidemiological and virological data from 4317 patients newly diagnosed with HIV-1 infection between 2002 and 2007 were analysed. Patients were enrolled using a pre-defined sampling strategy.Results: The overall prevalence of TDRM in this period was 8.9% (95% CI: 8.1-9.8). Interestingly, significant changes over time in TDRM caused by the different drug classes were found. Whereas nucleoside resistance mutations remained con…

Malevirus strainResistanceHIV InfectionsDrug resistanceTHERAPYNucleoside Reverse Transcriptase InhibitorANTIRETROVIRAL DRUG-RESISTANCE0302 clinical medicineMedical microbiologyGenotypeMedicine and Health SciencesPrevalenceHIV Infection030212 general & internal medicineUNITED-KINGDOMPhylogeny0303 health sciencesCommunicable diseaseTransmission (medicine)adultvirus mutationUPDATED RECOMMENDATIONSvirus transmission3. Good healthEuropeInfectious Diseasesfemalerisk factorvirus resistanceFemaleNAIVE PATIENTSSOCIETY-USA PANELResearch ArticleHumanAdultmedicine.medical_specialtyGenotypeAnti-HIV AgentsVirusArticle03 medical and health sciencesSDG 3 - Good Health and Well-beingmaleMOLECULAR EPIDEMIOLOGYDrug Resistance Viralmedicineproteinase inhibitorHumansTransmissioncontrolled studyhumanmolecular phylogeny030304 developmental biologynonhumanMUTATIONSbusiness.industryAnti-HIV Agentnucleotide sequencenonnucleoside reverse transcriptase inhibitorHuman immunodeficiency virus 1 infectionVirologymajor clinical studyunindexed sequenceParasitology3121 General medicine internal medicine and other clinical medicineMutationHIV-1business
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Viral Infections in Neonates with Suspected Late-Onset Bacterial Sepsis—A Prospective Cohort Study

2016

Objective The aim of our study was to evaluate the occurrence of viral infections in infants with suspected late-onset bacterial sepsis in a neonatal intensive care unit. Methods In a prospective study, infants with suspected late-onset bacterial sepsis underwent viral testing alongside routine blood culture sampling. Using a multiplex reverse transcription-polymerase chain reaction enzyme-linked immunosorbent assay, nasopharyngeal aspirates were analyzed for adenovirus, respiratory syncytial virus (RSV), influenza virus A and B, H1N1 virus, parainfluenza virus 1 to 4, metapneumovirus, coronavirus, and picornavirus. Stools were examined for adenovirus, rotavirus, norovirus, and enterovirus.…

MalevirusesBacteremiamedicine.disease_causeLate Onset DisordersAdenovirus Infections HumanCohort StudiesFeces0302 clinical medicineRotavirusGermanyNasopharynxBlood culture030212 general & internal medicineProspective StudiesCoronavirusCaliciviridae InfectionsParamyxoviridae InfectionsNeonatal sepsismedicine.diagnostic_testReverse Transcriptase Polymerase Chain ReactionObstetrics and Gynecologyvirus diseasesVirus DiseasesOriginal ArticleFemaleNeonatal SepsisCoronavirus InfectionsEnzyme-Linked Immunosorbent AssayvirusRespiratory Syncytial Virus InfectionsRotavirus InfectionsSepsis03 medical and health sciences030225 pediatricsIntensive Care Units NeonatalInfluenza HumanmedicineEnterovirus InfectionsHumanslate-onset bacterial sepsisPicornaviridae Infectionsbusiness.industryInfant Newbornmedicine.diseaseVirologyneonatal intensive care unitinfectionBlood CultureBacteremiaPediatrics Perinatology and Child HealthImmunologyNorovirusEnterovirusbusinessMultiplex Polymerase Chain ReactionAmerican Journal of Perinatology
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Baculovirus-mediated periadventitial gene transfer to rabbit carotid artery

2000

Recombinant Autographa californica multiple nuclear polyhedrosis viruses (AcMNPV) have recently been shown to transduce mammalian cells in vitro. Since baculoviruses offer many advantages over viruses currently used in gene therapy, we have tested them for in vivo gene transfer by constructing a baculovirus bearing a nuclear targeted beta-galactosidase marker gene (LacZ) under a CMV promoter. Both rabbit aortic smooth muscle cells (RAASMC) and human ECV-304 cells were susceptible to LacZ-baculovirus transduction. Transgene expression was evaluated in vivo by applying 1 x 10(9) p.f.u. of LacZ-baculoviruses or LacZ-adenoviruses in a silastic collar placed around rabbit carotid arteries in the…

MalevirusesGenetic enhancementTransgeneGenetic VectorsGene ExpressionBiologyTransfectionMarker geneMuscle Smooth VascularIn vivoGene expressionGeneticsAnimalsHumansMolecular BiologyReporter geneReverse Transcriptase Polymerase Chain ReactionGenetic transferGenetic TherapyTransfectionbeta-GalactosidaseMolecular biologyCarotid ArteriesMolecular MedicineRabbitsBaculoviridaeGene Therapy
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Failure to detect genomic viral sequences in pancreatic tissues from two children with acute-onset diabetes mellitus.

1994

Two cases of fatal, acute-onset, insulin-dependent diabetes mellitus (IDDM) in children were diagnosed. Epidemiologic and serologic studies, as well as histologic analysis of pancreatic tissue in fatal viral infections, support the contention that a viral infection could cause beta cell destruction, leading to IDDM. The presence of nucleic acid sequences from viral agents considered to be potentially diabetogenic, specifically, cytomegalovirus and mumps, rubella, and coxsackie viruses, were investigated in the pancreatic tissues by reverse transcription followed by polymerase chain reaction (RT-PCR) and Southern blot hybridization. Total pancreatic RNAs extracted from five children who died…

MalevirusesMolecular Sequence DataCytomegalovirusMumps virusBiologymedicine.disease_causeRubellaVirologyDiabetes mellitusmedicineHumansPancreasEnterovirusType 1 diabetesBase SequenceInfantRubella virusmedicine.diseaseVirologyReverse transcriptaseInfectious DiseasesDiabetes Mellitus Type 1Mumps virusChild PreschoolImmunologyAcute DiseaseVirusesRNA ViralFemaleViral diseaseBeta cellRubella virusJournal of medical virology
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