Search results for "hole"

showing 10 items of 2900 documents

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

2018

Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV. Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CR…

0301 basic medicineMedicine (General)Candidate geneclinical evaluationgenetic identificationgenetic analysisQH426-470medicine.disease_causeChromatin Epigenetics Genomics & Functional Genomicswhole exome sequencingddc:590mutator genesingle nucleotide polymorphismddc:576.5Gene Regulatory NetworksExomeExome sequencingCancercancer cellGeneticsMutation1184 Genetics developmental biology physiology3. Good healthgenetic codesyöpägeenitpriority journalMolecular Medicinewild typepoint mutationSystems MedicineColorectal Neoplasmscongenital hereditary and neonatal diseases and abnormalitiesddc:025.063/5703122 Cancerscancer geneticsSingle-nucleotide polymorphismcolorectal cancerBiologygene frequencyta3111mikrosatelliititcolony formationR105W geneArticle03 medical and health sciencesR5-920Gene interactionReportGeneticsmedicineHumanscontrolled studyhumanneoplasmspaksusuolisyöpäPoint mutationgene interactionhuman celltumor-related geneMicrosatellite instabilityMolecular Sequence AnnotationSequence Analysis DNAmedicine.diseaseta3122digestive system diseaseshuman tissueSTK38L gene030104 developmental biologyvalidation processgene expressionSMARCB1 genemicrosatellite instability3111 Biomedicinegene replicationReports
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Dairy product consumption and risk of type 2 diabetes in an elderly Spanish Mediterranean population at high cardiovascular risk.

2015

PURPOSE The possible effects of dairy consumption on diabetes prevention remain controversial. The aim of this study was to investigate the association between the dairy consumption and type 2 diabetes (T2D) risk in an elderly Mediterranean population at high cardiovascular risk. METHODS: We prospectively followed 3,454 non-diabetic individuals from the PREDIMED study. Dairy consumption was assessed at baseline and yearly using food frequency questionnaires and categorized into total, low-fat, whole-fat, and subgroups: milk, yogurt, cheeses, fermented dairy, concentrated full fat, and processed dairy. Hazard ratios (HRs) were calculated using Cox proportional hazards regression models. RESU…

0301 basic medicineMediterranean climateMaleMultivariate statisticsMedicine (miscellaneous)Type 2 diabetesBody Mass IndexCheeseRisk FactorsSurveys and QuestionnairesMedicineFood scienceProspective StudiesDiet Fat-RestrictedAged 80 and overeducation.field_of_studyNutrition and DieteticsMediterranean RegionIncidenceHazard ratioProductes lactis -- Aspectes nutritiusType 2 diabetesMiddle AgedYogurtMilkCardiovascular DiseasesOlder adultsFemaleDietary ProteinsWaist CircumferencePREDIMEDPopulationDairy03 medical and health sciencesEnvironmental healthDiabetes mellitusDietary CarbohydratesAnimalsHumanseducationTriglyceridesAgedProportional Hazards ModelsConsumption (economics)030109 nutrition & dieteticsDiabetis -- Investigacióbusiness.industryCholesterol HDLCholesterol LDLmedicine.diseasePredimedDietary FatsNutrition AssessmentDiabetes Mellitus Type 2Multivariate AnalysisDairy ProductsbusinessEnergy IntakeFollow-Up Studies
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Aromatic and proteomic analyses corroborate the distinction between Mediterranean landraces and modern varieties of durum wheat

2016

AbstractIn this paper volatile organic compounds (VOCs) from durum wheat cultivars and landraces were analyzed using PTR-TOF-MS. The aim was to characterize the VOC’s profile of the wholemeal flour and of the kernel to find out if any VOCs were specific to varieties and sample matrices. The VOC data is accompanied by SDS-PAGE analyses of the storage proteins (gliadins and glutenins). Statistical analyses was carried out both on the signals obtained by MS and on the protein profiles. The difference between the VOC profile of two cultivars or two preparations of the same sample - matrices, in this case kernel vs wholemeal flour - can be very subtle; the high resolution of PTR-TOF-MS - down to…

0301 basic medicineMediterranean climateVOLATILE COMPOUNDSPTR-TOF-MS; VOLATILE COMPOUNDS; GLUTEN STRENGTH; RAPID CHARACTERIZATION; PROTEIN-COMPOSITION; EXTRUSION-COOKING; QUALITY; CULTIVARS; FLOUR; SUBUNITS02 engineering and technologyPROTEIN-COMPOSITIONGliadinFLOURSettore BIO/04 - Fisiologia VegetaleCultivarFood scienceTriticumMathematicschemistry.chemical_classificationPrincipal Component AnalysisMultidisciplinarybiologyvolatile organic compounds; protein composition; gluten strength; quality; cultivars021001 nanoscience & nanotechnologyWholemeal flourBiological EvolutionSUBUNITSCULTIVARSSettore AGR/02 - Agronomia E Coltivazioni ErbaceeItalyPlant proteinSeedsPrincipal component analysis0210 nano-technologyGLUTEN STRENGTHRAPID CHARACTERIZATIONGlutensArticle03 medical and health sciencesfoodBotanyQUALITYStorage proteinPlant breedingVolatile Organic CompoundsEXTRUSION-COOKINGDurum wheat Volatile Organic Compounds VOC profilefood.foodPlant Breeding030104 developmental biologychemistrySpectrometry Mass Matrix-Assisted Laser Desorption-Ionizationbiology.proteinPTR-TOF-MSGliadinScientific Reports
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Factors influencing cytomegalovirus DNA load measurements in whole blood and plasma specimens from allogeneic hematopoietic stem cell transplant reci…

2019

We assessed the impact of several parameters, including the nature of the episode of Cytomegalovirus (CMV) DNAemia, the use of preemptive antiviral therapy, and the blood cell content in CMV DNA loads measured in whole blood (WB) and plasma (PL). CMV DNA load was quantified in 245 paired specimens collected within 43 postengraftment episodes of CMV DNAemia by using the CMV RealTime CMV PCR (Abbott Molecular). Concordant categorical results were obtained for 78.4% of paired specimens (Kappa index, 0.385; P = 0.001). Overall, CMV DNA loads in PL were higher than those in WB (mean bias, +0.115 log IU/mL) in both initial and recurrent episodes; this was so in post-antiviral treatment but not in…

0301 basic medicineMicrobiology (medical)030106 microbiologyCongenital cytomegalovirus infectionCytomegalovirusCytomegalovirus DNABlood cell03 medical and health sciences0302 clinical medicineHumansTransplantation HomologousMedicine030212 general & internal medicineWhole bloodbusiness.industryHematopoietic Stem Cell TransplantationAntiviral therapyvirus diseasesGeneral MedicineViral Loadmedicine.diseaseTransplant RecipientsBloodInfectious DiseasesReal-time polymerase chain reactionmedicine.anatomical_structureCytomegalovirus InfectionsDNA ViralImmunologyAllogeneic hematopoietic stem cell transplantbusinessViral loadDiagnostic Microbiology and Infectious Disease
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Traditional Norwegian Kveik Are a Genetically Distinct Group of Domesticated Saccharomyces cerevisiae Brewing Yeasts

2018

The widespread production of fermented food and beverages has resulted in the domestication of Saccharomyces cerevisiae yeasts specifically adapted to beer production. While there is evidence beer yeast domestication was accelerated by industrialization of beer, there also exists a farmhouse brewing culture in western Norway which has passed down yeasts referred to as kveik for generations. This practice has resulted in ale yeasts which are typically highly flocculant, phenolic off flavor negative (POF-), and exhibit a high rate of fermentation, similar to previously characterized lineages of domesticated yeast. Additionally, kveik yeasts are reportedly high-temperature tolerant, likely due…

0301 basic medicineMicrobiology (medical)030106 microbiologySaccharomyces cerevisiaelcsh:QR1-502ta3111MicrobiologySaccharomyceslcsh:MicrobiologyDomestication03 medical and health sciencesSaccharomycesDomesticationFermentation in food processingWhole genome sequencingGeneticsbiologybusiness.industryta1183ta1182food and beveragesBrewingbiology.organism_classificationYeastYeast030104 developmental biologyAleKveikFermentationBrewingFermentationbusinessFrontiers in Microbiology
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Assessment of prevalence and load of torquetenovirus viraemia in a large cohort of healthy blood donors.

2020

OBJECTIVES: Torquetenovirus (TTV) is an emerging marker of functional immune competence with the potential to predict transplant-related adverse events. A large-scale epidemiological study was performed to understand how basal values vary in healthy individuals according to age and gender.; METHODS: We tested plasma from 1017 healthy blood donors aged 18-69years. The presence and load of TTV were determined by a real-time PCR assay. A sub-cohort of 384 donors was tested for anti-cytomegalovirus IgG antibodies, and 100 participants were also tested for TTV viraemia on a paired whole blood sample.; RESULTS: The overall prevalence of TTV was 65% (657/1017) with a mean (±SD) growth of 5±4% ever…

0301 basic medicineMicrobiology (medical)AdultMalemedicine.medical_specialtyAgingAdolescentprevalence030106 microbiologyPcr assayPhysiologyTTVViremiaBlood DonorsanelloviridaeReal-Time Polymerase Chain Reaction03 medical and health sciencesPlasmaYoung Adult0302 clinical medicineEpidemiologyMedicineHumansBlood Transfusion030212 general & internal medicineViremiaTTV; anelloviridae; blood donors; healthy controls; prevalence; torquetenovirus; viremiaAdverse effectWhole bloodAgedTorque teno virusbiologybusiness.industryGeneral MedicineMiddle AgedViral Loadmedicine.diseaseDNA Virus InfectionsHealthy VolunteersLarge cohorttorquetenovirusInfectious DiseasesHealthy individualsDNA Viralbiology.proteinhealthy controlsFemaleAntibodybusinessClinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
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Whole-genome characterization of Shewanella algae strain SYT3 isolated from seawater reveals insight into hemolysis.

2018

Aim: To describe the genomic characteristics of seawater-borne hemolytic Shewanella algae and its resistance genes. Materials & methods: Whole genome sequence of S. algae SYT3 was determined using llumina MiSeq platform. Multiple-database-based analysis was performed to identify the genetic background of its hemolytic activity and the antibiotic resistance genes. Results: S. algae SYT3 possesses a homolog of the hly operon involved in the synthesis of hemolysin. We also identified candidate genes associated with resistance to β-lactam antibiotics (bla OXA-55) and fluoroquinolone (qnrA3). Conclusion: The study provides an insight into the hemolytic activity of S. algae. Our findings als…

0301 basic medicineMicrobiology (medical)DNA BacterialShewanellaOperon030106 microbiologyTaiwanShewanella algaeMicrobial Sensitivity TestsMicrobiologyGenomeHemolysisbeta-LactamasesMicrobiology03 medical and health sciencesHemolysin ProteinsAntibiotic resistanceAlgaeBacterial ProteinsRNA Ribosomal 16SDrug Resistance BacterialmedicineHumansSeawaterGenePhylogenyWhole genome sequencingbiologyWhole Genome SequencingChromosome Mappingbiology.organism_classificationmedicine.diseaseHemolysisAnti-Bacterial AgentsBacterial Typing TechniquesGenome BacterialFuture microbiology
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Wild eel microbiome reveals that skin mucus of fish could be a natural niche for aquatic mucosal pathogen evolution

2017

Background Fish skin mucosal surfaces (SMS) are quite similar in composition and function to some mammalian MS and, in consequence, could constitute an adequate niche for the evolution of mucosal aquatic pathogens in natural environments. We aimed to test this hypothesis by searching for metagenomic and genomic evidences in the SMS-microbiome of a model fish species (Anguilla Anguilla or eel), from different ecosystems (four natural environments of different water salinity and one eel farm) as well as the water microbiome (W-microbiome) surrounding the host. Results Remarkably, potentially pathogenic Vibrio monopolized wild eel SMS-microbiome from natural ecosystems, Vibrio anguillarum/Vibr…

0301 basic medicineMicrobiology (medical)DNA BacterialVibrio anguillarumGenomic IslandsZoologyAnimals WildVibrio vulnificusmedicine.disease_causeMicrobiologylcsh:Microbial ecologyEvolution Molecular03 medical and health sciencesMicrobial ecologymedicineAnimalsHumansMicrobiomeVibrioSkin mucusSkinbiologyBacteriaResearchMicrobiotaAttached microbiotaGenomicsbiology.organism_classificationAnguillaPathogenicity islandMucusVibrioMucusGenòmica030104 developmental biologyVibrio choleraeBacteris patògenslcsh:QR100-130MicrobiomeMetagenomicsWater Microbiology
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A New Phylogenetic Framework for the Animal-adaptedMycobacterium tuberculosisComplex

2018

Tuberculosis (TB) affects humans and other animals and is caused by bacteria from the Mycobacterium tuberculosis complex (MTBC). Previous studies have shown that there are at least nine members of the MTBC infecting animals other than humans; these have also been referred to as ecotypes. However, the ecology and the evolution of these animal-adapted MTBC ecotypes are poorly understood. Here we screened 12,886 publicly available MTBC genomes and newly sequenced 17 animal-adapted MTBC strains, gathering a total of 529 genomes of animal-adapted MTBC strains. Phylogenomic and comparative analyses confirm that the animal-adapted MTBC members are paraphyletic with some members more closely relate…

0301 basic medicineMicrobiology (medical)Host–pathogen interactionsLineage (evolution)Populationlcsh:QR1-502specificityhost rangeHost tropismMicrobiologyGenetic diversitylcsh:Microbiology03 medical and health sciencesPhylogenomicseducationClade030304 developmental biologyWhole-genome sequencing0303 health scienceseducation.field_of_studybiologyPhylogenetic tree030306 microbiologygenetic diversitybiology.organism_classification3. Good health030104 developmental biologyhost–pathogen interactions; specificity; host range; genetic diversity; whole-genome sequencingMycobacterium tuberculosis complexwhole-genome sequencingEvolutionary biologyHost rangeSpecificityMycobacterium africanumhost–pathogen interactions
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Draft genome sequence and biofilm production of a carbapenemase-producing Klebsiella pneumoniae (KpR405) sequence type 405 strain isolated in Italy

2021

Rapid identification and characterization of multidrug-resistant Klebsiella pneumoniae strains is essential to diagnose severe infections in patients. In clinical routine practice, K. pneumoniae is frequently identified and characterized for outbreak investigation. Pulsed-field gel electrophoresis or multilocus sequence typing could be used, but, unfortunately, these methods are time-consuming, laborious, expensive, and do not provide any information about the presence of resistance and virulence genes. In recent years, the decreasing cost of next-generation sequencing and its easy use have led to it being considered a useful method, not only for outbreak surveillance but also for rapid ide…

0301 basic medicineMicrobiology (medical)Klebsiella pneumoniae<i>Klebsiella pneumoniae</i>030106 microbiologyVirulenceRM1-950BiochemistryMicrobiologyMicrobiologyCarbapenemase03 medical and health sciencesPharmacology (medical)General Pharmacology Toxicology and PharmaceuticsPathogenWhole genome sequencingbiologyBiofilmBiofilmOutbreakST405biology.organism_classificationKlebsiella pneumoniae030104 developmental biologyInfectious DiseasesMultilocus sequence typingTherapeutics. PharmacologyBacteria
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