Search results for " Isola"

showing 10 items of 482 documents

Shared language, diverging genetic histories: high-resolution analysis of Y-chromosome variability in Calabrian and Sicilian Arbereshe.

2015

The relationship between genetic and linguistic diversification in human populations has been often explored to interpret some specific issues in human history. The Albanian-speaking minorities of Sicily and Southern Italy (Arbereshe) constitute an important portion of the ethnolinguistic variability of Italy. Their linguistic isolation from neighboring Italian populations and their documented migration history, make such minorities particularly effective for investigating the interplay between cultural, geographic and historical factors. Nevertheless, the extent of Arbereshe genetic relationships with the Balkan homeland and the Italian recipient populations has been only partially investi…

0301 basic medicineMaleGenetics; Genetics (clinical)PopulationY-chromosome variabilityPopulationSettore BIO/08 - ANTROPOLOGIAPopulation geneticsGenetic admixtureHomelandgenetics (clinical)Diversification (marketing strategy)Population stratificationChromosomesArticle03 medical and health sciencesGeneticModelsGenetic variationHumansgeneticseducationLanguageeducation.field_of_studygenetics (clinical); geneticsChromosomes Human YY chromosomeModels GeneticMediterranean Regionpopulation geneticsGenetic Variationlanguage.human_languageY-ChromosomeChromosomes Human Y; Female; Humans; Italy; Male; Mediterranean Region; Pedigree; Population; Genetic Variation; Language; Models GeneticPedigreeHuman Population Genetics Y chromosome Arbereshe linguistic minorities genetic isolates admixture simulations micro-evolutionary history Southern Italy030104 developmental biologyGeographyItalyEvolutionary biologylanguageArbereshe linguistic minorityArbreshFemaleSicilianSicily and CalabriaYHumanEuropean journal of human genetics : EJHG
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No pre-zygotic isolation mechanisms between Schistosoma haematobium and Schistosoma bovis parasites: From mating interactions to differential gene ex…

2021

Species usually develop reproductive isolation mechanisms allowing them to avoid interbreeding. These preventive barriers can act before reproduction, “pre-zygotic barriers”, or after reproduction, “post-zygotic barriers”. Pre-zygotic barriers prevent unfavourable mating, while post-zygotic barriers determine the viability and selective success of the hybrid offspring. Hybridization in parasites and the underlying reproductive isolation mechanisms maintaining their genetic integrity have been overlooked. Using an integrated approach this work aims to quantify the relative importance of pre-zygotic barriers in Schistosoma haematobium x S. bovis crosses. These two co-endemic species cause sch…

0301 basic medicineMaleIntrogressionRC955-962Gene ExpressionBiochemistryTransmembrane Transport Proteins0302 clinical medicineMedical ConditionsCricetinaeArctic medicine. Tropical medicineMedicine and Health SciencesMatingSchistosoma haematobiumGeneticsMammalsbiologyMosaicism[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]ReproductionEukaryotaReproductive isolationGenomicsInfectious DiseasesMate choiceVertebratesHamstersSchistosomaFemalePublic aspects of medicineRA1-1270Transcriptome AnalysisResearch ArticleEvolutionary ProcessesReproductive IsolationGenetic Speciation030231 tropical medicineIntrogressionRodents03 medical and health sciencesHelminthsGeneticsParasitic DiseasesAnimalsGeneSchistosomaEvolutionary BiologyHost (biology)Public Health Environmental and Occupational HealthOrganismsBiology and Life SciencesComputational BiologyProteinsbiology.organism_classificationGenome AnalysisInvertebratesSchistosoma Haematobium030104 developmental biologyGene Expression RegulationAmniotesZoologyPLoS Neglected Tropical Diseases
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Early silent microstructural degeneration and atrophy of the thalamocortical network in multiple sclerosis

2016

Recent studies on patients with clinically isolated syndrome (CIS) and multiple sclerosis (MS) demonstrated thalamic atrophy. Here we addressed the following question: Is early thalamic atrophy in patients with CIS and relapsing-remitting MS (RRMS) mainly a direct consequence of white matter (WM) lesions-as frequently claimed-or is the atrophy stronger correlated to "silent" (nonlesional) microstructural thalamic alterations? One-hundred and ten patients with RRMS, 12 with CIS, and 30 healthy controls were admitted to 3 T magnetic resonance imaging. Fractional anisotropy (FA) was computed from diffusion tensor imaging (DTI) to assess thalamic and WM microstructure. The relative thalamic vol…

0301 basic medicinePathologymedicine.medical_specialtyThalamusWhite matter03 medical and health sciences0302 clinical medicineAtrophyFractional anisotropymedicineRadiology Nuclear Medicine and imagingClinically isolated syndromeRadiological and Ultrasound Technologymedicine.diagnostic_testMultiple sclerosisMagnetic resonance imagingmedicine.disease030104 developmental biologymedicine.anatomical_structureNeurologyNeurology (clinical)AnatomyPsychologyNeuroscience030217 neurology & neurosurgeryDiffusion MRIHuman Brain Mapping
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Multilocus microsatellite analysis of European and African Candida glabrata isolates

2016

This study aimed to elucidate the genetic relatedness and epidemiology of 127 clinical and environmental Candida glabrata isolates from Europe and Africa using multilocus microsatellite analysis. Each isolate was first identified using phenotypic and molecular methods and subsequently, six unlinked microsatellite loci were analyzed using automated fluorescent genotyping. Genetic relationships were estimated using the minimum-spanning tree (MStree) method. Microsatellite analyses revealed the existence of 47 different genotypes. The fungal population showed an irregular distribution owing to the over-representation of genetically different infectious haplotypes. The most common genotype was …

0301 basic medicineSettore MED/07 - Microbiologia E Microbiologia ClinicaClonal complexEpidemiologyMultilocus microsatellite analysisCandida glabrataMolecular phylogenyGene locusCentral typeRelated genotypeGenotypeEnvironmental MicrobiologyHaplotypeDNA FungalPriority journalGeneticsAlleleCandidiasisGeneral MedicineClassificationEuropePhenotypeInfectious DiseasesCandida Glabrata; Adhesins; FluconazoleCandidiasiMicrosatelliteMicrosatellite RepeatMicrobiological examinationHumanMicrobiology (medical)GenotypeSettore MED/17 - Malattie InfettiveMicrosatellite DNA030106 microbiologyBiologyEuropeanMicrobiologyArticle03 medical and health sciencesGenetic variationMicrosatellite repeatsGeneticsHumansAlleleGenotypingAllelesScience & TechnologyCandida glabrataMicrosatellite markerHaplotypeAfricanGenetic Variationbiology.organism_classificationNonhuman030104 developmental biologyFungal DNAHaplotypesIsolation and purificationGenetic LociAfricaMultilocus sequence typingFungus isolationGenetic variabilityMicrosatellite genotypeMultilocus Sequence Typing
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Diversity, virulence, and antimicrobial resistance of the KPC-producing Klebsiella pneumoniae ST307 clone

2017

ABSTRACT : The global spread of Klebsiella pneumoniae producing Klebsiella pneumoniae carbapenemase (KPC) has been mainly associated with the dissemination of high-risk clones. In the last decade, hospital outbreaks involving KPC-producing K. pneumoniae have been predominantly attributed to isolates belonging to clonal group (CG) 258. However, results of recent epidemiological analysis indicate that KPC-producing sequence type (ST) 307, is emerging in different parts of the world and is a candidate to become a prevalent high-risk clone in the near future. Here we show that the ST307 genome encodes genetic features that may provide an advantage in adaptation to the hospital environment and t…

0301 basic medicineSettore MED/07 - Microbiologia E Microbiologia Clinicasiderophoreantibiotic resistancelong term survivalsequence analysisKlebsiella pneumoniaepolymerase chain reactionResponses to Human InterventionsDrug ResistanceGene TransferClone (cell biology)ST259bacterial proteinvirulence factorYersiniabactinGenomechemistry.chemical_compoundMicrobialPlasmidAntibioticsbacterial genomepathogenicitygenetics610 Medicine & healthgenome analysisCross InfectionMolecular EpidemiologyGenomeVirulencebiologydrug effectyersiniabactinBacterialDrug Resistance MicrobialGeneral MedicineKlebsiella infectionglycogen synthesisKlebsiella pneumoniaeEnglandItalyST307horizontal gene transferProteínas BacterianasResearch ArticleGene Transfer HorizontalVirulence FactorsSequence analysiscapsule030106 microbiologyVirulence610 Medicine & healthpulsed field gel electrophoresisColombiaCarbapenemase; siderophore; yersiniabactin; bacterial protein; beta lactamase; virulence factor antibiotic resistance; Article; bacterial strain; bacterial virulence; bacterium isolate; fimbria; genome analysis; glycogen synthesis; Klebsiella pneumoniae; long term survival; microbial diversity; nonhuman; plasmid; polymerase chain reaction; pulsed field gel electrophoresis; sequence analysis; whole genome sequencing; antibiotic resistance; bacterial genome; carbapenem-resistant Enterobacteriaceae; Colombia; cross infection; drug effect; England; genetic variation; genetics; horizontal gene transfer; human; Italy; Klebsiella infection; microbiology; molecular epidemiology; multilocus sequence typing; pathogenicity; virulence Bacterial Proteins; beta-Lactamases; Carbapenem-Resistant Enterobacteriaceae; Colombia; Cross Infection; Drug Resistance Microbial; England; Gene Transfer Horizontal; Genetic Variation; Genome Bacterial; Humans; Italy; Klebsiella Infections; Klebsiella pneumoniae; Molecular Epidemiology; Multilocus Sequence Typing; Virulence; Virulence Factors; Whole Genome SequencingArticlebeta-Lactamasesbeta lactamaseHorizontalMicrobiologyCarbapenemase03 medical and health sciencesAntibiotic resistanceBacterial ProteinsplasmidHumanshumanInfecciones por KlebsiellafimbrianonhumanWhole Genome Sequencingbacterial virulencebacterium isolatemicrobiologyGenetic Variationbacterial strainbiology.organism_classificationKlebsiella InfectionsEnterobacteriaceae Resistentes a los CarbapenémicosKPCCarbapenem-Resistant Enterobacteriaceae030104 developmental biologychemistrymicrobial diversityEpidemiología MolecularGenome BacterialWGSMultilocus Sequence Typing
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Preservation of Multiple Mammalian Tissues to Maximize Science Return from Ground Based and Spaceflight Experiments.

2016

Background Even with recent scientific advancements, challenges posed by limited resources and capabilities at the time of sample dissection continue to limit the collection of high quality tissues from experiments that can be conducted only infrequently and at high cost, such as in space. The resources and time it takes to harvest tissues post-euthanasia, and the methods and duration of long duration storage, potentially have negative impacts on sample quantity and quality, thereby limiting the scientific outcome that can be achieved. Objectives The goals of this study were to optimize methods for both sample recovery and science return from rodent experiments, with possible relevance to b…

0301 basic medicineTime FactorsPhysiologyMolecular biologyRNA Stabilitylcsh:MedicineBiochemistrylaw.inventionMice0302 clinical medicinelawSpecimen StorageBone MarrowImmune PhysiologyGene expressionFreezingMedicine and Health Scienceslcsh:ScienceMammalsMultidisciplinaryPreservation methodsLimitingEye MusclesGlutathioneEnzymesRNA isolation030220 oncology & carcinogenesisTissue and Organ HarvestingSmall IntestineSample collectionAnatomyResearch ArticleOcular AnatomyImmunologyRNA integrity numberBiologySpaceflightResearch and Analysis MethodsBiomolecular isolationSpecimen HandlingAndrology03 medical and health sciencesOcular SystemAnimalsHumansTime pointCryopreservationlcsh:RRNABiology and Life SciencesProteinsSpace FlightGastrointestinal Tract030104 developmental biologyMolecular biology techniquesStorage and HandlingImmune SystemEnzymologylcsh:QPeptidesDigestive SystemSpleenCatalasesPloS one
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Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

2016

Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brai…

0301 basic medicineUntranslated regionTranscription GeneticCDKL5lcsh:MedicineGene ExpressionArtificial Gene Amplification and ExtensionPolymerase Chain ReactionBiochemistryExonMice0302 clinical medicineCoding regionProtein Isoformslcsh:ScienceGeneticsRegulation of gene expressionMultidisciplinaryMammalian GenomicsHigh-Throughput Nucleotide SequencingExonsGenomicsNucleic acidsRNA isolationPhenotypeSpasms InfantileResearch ArticleGene isoformBiologyProtein Serine-Threonine KinasesPolyadenylationResearch and Analysis MethodsBiomolecular isolation03 medical and health sciencesGeneticsAnimalsHumansAdultsAmino Acid SequenceMolecular Biology TechniquesGeneMolecular BiologyAlternative splicinglcsh:RGene MappingInfant NewbornBiology and Life SciencesReverse Transcriptase-Polymerase Chain ReactionAlternative Splicing030104 developmental biologyGene Expression RegulationRNA processingAge GroupsAnimal GenomicsMutationPeople and PlacesExon MappingRNAlcsh:QPopulation Groupings030217 neurology & neurosurgeryPloS one
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Disclosing diversity of exopolysaccharide-producing lactobacilli from Spanish natural ciders

2018

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0301 basic medicinebiologyMolecular massChemistryExopolysaccharides (EPS)030106 microbiologyFood spoilagebiology.organism_classificationlaw.inventionLactic acidHomopolysaccharide03 medical and health scienceschemistry.chemical_compoundLactobacillusCiderslawLactobacillusRopy isolatesFermentationFood sciencePolymerase chain reactionBacteriaFood Science
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Platelets, endothelial cells and leukocytes contribute to the exercise-triggered release of extracellular vesicles into the circulation.

2019

ABSTRACT Physical activity initiates a wide range of multi-systemic adaptations that promote mental and physical health. Recent work demonstrated that exercise triggers the release of extracellular vesicles (EVs) into the circulation, possibly contributing to exercise-associated adaptive systemic signalling. Circulating EVs comprise a heterogeneous collection of different EV-subclasses released from various cell types. So far, a comprehensive picture of the parental and target cell types, EV-subpopulation diversity and functional properties of EVs released during exercise (ExerVs) is lacking. Here, we performed a detailed EV-phenotyping analysis to explore the cellular origin and potential …

0301 basic medicineimmunobead isolationCell typeHistologyCD14exosomes03 medical and health sciences0302 clinical medicinePlateletlcsh:QH573-671Antigen-presenting cellplasmaCluster of differentiationCD63exerciselcsh:CytologyChemistrysize exclusion chromatographyCell BiologyExtracellular vesiclesmultiplex phenotypingMicrovesiclesCell biology030104 developmental biology030220 oncology & carcinogenesisCD146extracellular vesiclesResearch Article
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Prognostic indicators in pediatric clinically isolated syndrome

2017

Objective To assess prognostic factors for a second clinical attack and a first disability-worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of multiple sclerosis (MS) patients. Methods A cohort of 770 pCIS patients was followed up for at least 10 years. Cox proportional hazard models and Recursive Partitioning and Amalgamation (RECPAM) tree-regression were used to analyze data. Results In pCIS, female sex and a multifocal onset were risk factors for a second clinical attack (hazard ratio [HR], 95% confidence interval [CI] = 1.28, 1.06–1.55; 1.42, 1.10–1.84, respectively), whereas disease-modifying drug (DMD) exposure reduced this risk (HR, 95% CI = 0.75, 0.60–0.95…

0301 basic medicinemedicine.medical_specialtyeducation.field_of_studyClinically isolated syndromeExpanded Disability Status Scalebusiness.industryProportional hazards modelHazard ratioPopulationRetrospective cohort studySurgery03 medical and health sciences030104 developmental biology0302 clinical medicineNeurologyInternal medicineMedicineNeurology (clinical)Age of onsetRisk factorbusinesseducation030217 neurology & neurosurgeryAnnals of Neurology
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