Search results for "42"

showing 10 items of 3911 documents

Epigenetic IVD Tests for Personalized Precision Medicine in Cancer

2019

Epigenetic alterations play a key role in the initiation and progression of cancer. Therefore, it is possible to use epigenetic marks as biomarkers for predictive and precision medicine in cancer. Precision medicine is poised to impact clinical practice, patients, and healthcare systems. The objective of this review is to provide an overview of the epigenetic testing landscape in cancer by examining commercially available epigenetic-based in vitro diagnostic tests for colon, breast, cervical, glioblastoma, lung cancers, and for cancers of unknown origin. We compile current commercial epigenetic tests based on epigenetic biomarkers (i.e., DNA methylation, miRNAs, and histones) that can actua…

0301 basic medicineIn Vitro Diagnostic (IVD)lcsh:QH426-470precision medicineReviewBioinformatics03 medical and health sciences0302 clinical medicinemicroRNAGeneticsMedicineEpigeneticscfDNAGenetics (clinical)miRNAEpigenetic biomarkersDNA methylationbiologybusiness.industryCancerepigenetic biomarkerPrecision medicinemedicine.diseaselcsh:Genetics030104 developmental biologyHistone030220 oncology & carcinogenesisDNA methylationcirculating nucleosomesbiology.proteinMolecular MedicinebusinessGlioblastomaFrontiers in Genetics
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Conservation status and historical relatedness of Italian cattle breeds

2018

Background In the last 50 years, the diversity of cattle breeds has experienced a severe contraction. However, in spite of the growing diffusion of cosmopolite specialized breeds, several local cattle breeds are still farmed in Italy. Genetic characterization of breeds represents an essential step to guide decisions in the management of farm animal genetic resources. The aim of this work was to provide a high-resolution representation of the genome-wide diversity and population structure of Italian local cattle breeds using a medium-density single nucleotide polymorphism (SNP) array. Results After quality control filtering, the dataset included 31,013 SNPs for 800 samples from 32 breeds. Ou…

0301 basic medicineIn situ conservation[SDV]Life Sciences [q-bio]Animals; Animals Domestic; Breeding; Cattle; Conservation of Natural Resources; Evolution Molecular; Genetics Population; Genome-Wide Association Study; Linkage Disequilibrium; Phylogeny; Population Density; Genetic Variation; Polymorphism Single Nucleotide;Italian Bovine Genetic VariabilityRuns of HomozygosityBreedingLinkage DisequilibriumSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoItalian cattle breeds Bovine Genetic Variability Bovine SNP Bovine Genomocs Markers Italian Bovine Genetic VariabilityConservation of Natural ResourceDomesticPhylogenylcsh:SF1-11002. Zero hungereducation.field_of_studyEcologySettore AGR/17 - ZOOTECNICA GENERALE E MIGLIORAMENTO GENETICOBiodiversity04 agricultural and veterinary sciencesGeneral MedicineSingle NucleotideItalyAnimals DomesticBovine SNPLivestockItalian cattle breeds Bovine Genetic VariabilityEcology Evolution Behavior and Systematics; Animal Science and Zoology; GeneticsInbreedingGenetic isolateResearch ArticleConservation of Natural Resourceslcsh:QH426-470EvolutionAnimals; Animals Domestic; Breeding; Cattle; Conservation of Natural Resources; Evolution Molecular; Genetics Population; Genome-Wide Association Study; Linkage Disequilibrium; Phylogeny; Population Density; Genetic Variation; Polymorphism Single NucleotidePopulationPopulationBiologyPolymorphism Single NucleotideBovine Genomocs MarkersEvolution Molecular03 medical and health sciencesBehavior and SystematicsSNP local cattle structureGenetic variationGeneticsAnimalsPolymorphismeducationEcology Evolution Behavior and SystematicsPopulation DensityGenetic diversityAnimalbusiness.industry0402 animal and dairy scienceAnimals; Animals Domestic; Breeding; Cattle; Conservation of Natural Resources; Evolution Molecular; Genetics Population; Genome-Wide Association Study; Linkage Disequilibrium; Phylogeny; Population Density; Genetic Variation; Polymorphism Single Nucleotide; Ecology Evolution Behavior and Systematics; Animal Science and Zoology; GeneticsMolecularGenetic VariationEcology Evolution Behavior and Systematic040201 dairy & animal sciencelcsh:GeneticsBiodiversity cattle ItalyGenetics Population030104 developmental biologyEvolutionary biologyCattleAnimal Science and Zoologylcsh:Animal culturebusinessGenome-Wide Association Study
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A Two-Cohort RNA-seq Study Reveals Changes in Endometrial and Blood miRNome in Fertile and Infertile Women

2018

The endometrium undergoes extensive changes to prepare for embryo implantation and microRNAs (miRNAs) have been described as playing a significant role in the regulation of endometrial receptivity. However, there is no consensus about the miRNAs involved in mid-secretory endometrial functions. We analysed the complete endometrial miRNome from early secretory (pre-receptive) and mid-secretory (receptive) phases from fertile women and from patients with recurrent implantation failure (RIF) to reveal differentially expressed (DE) miRNAs in the mid-secretory endometrium. Furthermore, we investigated whether the overall changes during early to mid-secretory phase transition and with RIF conditio…

0301 basic medicineInfertilitySmall RNAlcsh:QH426-470endometrial receptivityPopulationRNA-SeqBiologyEndometriumArticleAndrologyACTIVATION03 medical and health sciencesEMBRYO IMPLANTATION0302 clinical medicineRecurrent implantation failure3123 Gynaecology and paediatricsRESOURCEmicroRNAGeneticsmedicineeducationGenetics (clinical)education.field_of_study030219 obstetrics & reproductive medicinemicroRNASIGNATURE1184 Genetics developmental biology physiologyEmbryoMicroRNAmedicine.diseaseTIMElcsh:Genetics030104 developmental biologymedicine.anatomical_structureEndometrial receptivityInfertilityDIFFERENTIAL EXPRESSION ANALYSISCohortRECURRENT IMPLANTATION FAILURE3111 BiomedicineMIR-30DinfertilitySmall RNA-seqsmall RNA-seqPACKAGE
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The molecular epidemiology and evolutionary dynamics of influenza B virus in two Italian regions during 2010-2015: The experience of Sicily and Ligur…

2016

Molecular epidemiology of influenza B virus remained poorly studied in Italy, despite representing a major contributor to seasonal epidemics. This study aimed to reconstruct the phylogenetic relationships and genetic diversity of the hemagglutinin gene sequences of 197 influenza B strains circulating in both Southern (Sicily) and Northern (Liguria) Italy between 2010 and 2015. Upper respiratory tract specimens of patients displaying symptoms of influenza-like illness were screened by real-time RT-PCR assay for the presence of influenza B virus. PCR-positive influenza B samples were further analyzed by sequencing. Neighbor-joining phylogenetic trees were constructed and the amino-acid alignm…

0301 basic medicineInfluenza ViruslineagesHemagglutinin Glycoproteins Influenza VirusLiguriaSettore MED/42 - Igiene Generale E Applicatamolecular epidemiologyCatalysilcsh:Chemistryviral evolutionCladeinfluenza BSicilylcsh:QH301-705.5PhylogenySpectroscopyPhylogenetic treeinfluenza B; lineages; viral evolution; surveillance; molecular epidemiology; influenza-like illness; Sicily; Liguria; ItalyComputer Science Applications1707 Computer Vision and Pattern RecognitionGeneral MedicineBiological EvolutionComputer Science ApplicationsInfluenza B; Influenza-like illness; Italy; Liguria; Lineages; Molecular epidemiology; Sicily; Surveillance; Viral evolution; Biological Evolution; Genetic Variation; Hemagglutinin Glycoproteins Influenza Virus; Humans; Influenza B virus; Influenza Human; Italy; Molecular Epidemiology; Sicily; Phylogeny; Catalysis; Molecular Biology; Computer Science Applications1707 Computer Vision and Pattern Recognition; Spectroscopy; Physical and Theoretical Chemistry; Organic Chemistry; Inorganic ChemistryInfluenza B; Influenza-like illness; Italy; Liguria; Lineages; Molecular epidemiology; Sicily; Surveillance; Viral evolution; Catalysis; Molecular Biology; Spectroscopy; Computer Science Applications1707 Computer Vision and Pattern Recognition; Physical and Theoretical Chemistry; Organic Chemistry; Inorganic ChemistryItalyViral evolutionsurveillanceHumanHemagglutinin Glycoproteinsinfluenza-like illnessHemagglutinin (influenza)BiologyArticleCatalysisVirusInorganic Chemistry03 medical and health sciencesLineagePhylogeneticsInfluenza HumanHumansPhysical and Theoretical ChemistryMolecular BiologyInfluenza-like illneInfluenza-like illnessMolecular epidemiologyOrganic ChemistryGenetic VariationVirologyInfluenzaInfluenza B virus030104 developmental biologylcsh:Biology (General)lcsh:QD1-999biology.protein
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Co-circulation of the two influenza B lineages during 13 consecutive influenza surveillance seasons in Italy, 2004-2017

2019

AbstractBackgroundSince 1985, two antigenically distinct lineages of influenza B viruses (Victoria-like and Yamagata-like) have circulated globally. Trivalent seasonal influenza vaccines contain two circulating influenza A strains but a single B strain and thus provide limited immunity against circulating B strains of the lineage not included in the vaccine. In this study, we describe the characteristics of influenza B viruses that caused respiratory illness in the population in Italy over 13 consecutive seasons of virological surveillance, and the match between the predominant influenza B lineage and the vaccine B lineage, in each season.MethodsFrom 2004 to 2017, 26,886 laboratory-confirme…

0301 basic medicineInfluenza virological surveillance Influenza B virus Victoria lineage Yamagata lineage Vaccine matchmedicine.medical_specialtyLineage (evolution)PopulationInfluenza B viruHemagglutinin (influenza)Vaccine matchSettore MED/42 - Igiene Generale E ApplicataViruslcsh:Infectious and parasitic diseases03 medical and health sciences0302 clinical medicineMedical microbiologyImmunityRetrospective StudieInfluenza HumanmedicineHumanslcsh:RC109-216030212 general & internal medicineeducationPhylogenyRetrospective Studieseducation.field_of_studybiologyStrain (biology)Victoria lineageInfluenza B virus; Influenza virological surveillance; Italy; Vaccine match; Victoria lineage; Yamagata lineageVirologyInfluenzaInfluenza B virus030104 developmental biologyInfectious DiseasesInfluenza virological surveillanceParasitologyItalyInfluenza VaccinesInfluenza virological surveillance Influenza B virus Victoria lineage Yamagata lineage Vaccine match ItalyEpidemiological Monitoringbiology.proteinInfluenza B virus; Influenza virological surveillance; Italy; Vaccine match; Victoria lineage; Yamagata lineage; Epidemiological Monitoring; Humans; Influenza B virus; Influenza Vaccines; Influenza Human; Italy; Phylogeny; Retrospective Studies; SeasonsSeasonsInfluenza VaccineYamagata lineageResearch ArticleHuman
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Deep Brain Stimulation and L-DOPA Therapy: Concepts of Action and Clinical Applications in Parkinson's Disease.

2018

L-DOPA is still the most effective pharmacological therapy for the treatment of motor symptoms in Parkinson's disease (PD) almost four decades after it was first used. Deep brain stimulation (DBS) is a safe and highly effective treatment option in patients with PD. Even though a clear understanding of the mechanisms of both treatment methods is yet to be obtained, the combination of both treatments is the most effective standard evidenced-based therapy to date. Recent studies have demonstrated that DBS is a therapy option even in the early course of the disease, when first complications arise despite a rigorous adjustment of the pharmacological treatment. The unique feature of this therapeu…

0301 basic medicineLevodopaParkinson's diseaseDeep brain stimulationglobus pallidus internus (GPi)medicine.medical_treatmentParkinson's diseaseCentral nervous systemStimulationDiseaseReviewlcsh:RC346-42903 medical and health sciencesTherapeutic approach0302 clinical medicinemedicinelevodopadeep brain stimulation (DBS)lcsh:Neurology. Diseases of the nervous systembusiness.industryDopaminergicmedicine.diseasenervous system diseases030104 developmental biologymedicine.anatomical_structureNeurologyNeurology (clinical)businessNeurosciencesubthalamic nucleus (STN)030217 neurology & neurosurgerymedicine.drugFrontiers in neurology
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Telomere length and physical performance among older people-The Helsinki Birth Cohort Study.

2019

Telomere length has been suggested a biomarker of aging and is associated with several chronic diseases. However, the association between telomere length and physical performance is not well known. Using both cross-sectional and longitudinal data, we studied 582 women and 453 men from the Helsinki Birth Cohort Study at two time-points; a baseline examination in 2001-2004 at a mean age of 61 years and a follow-up examination approximately 10 years later in 2011-2013. Telomere length was measured both at baseline and at follow-up using real-time quantitative polymerase chain reaction. Physical performance was evaluated only at follow-up using the Senior Fitness Test (SFT), which assesses stre…

0301 basic medicineMaleAgingBLOODFITNESSEpidemiologybiomarkkeritCAPABILITY0302 clinical medicineMARKERSEpidemiologyMedicine2. Zero hungerSex CharacteristicsASSOCIATIONMiddle AgedTelomere3142 Public health care science environmental and occupational healthfyysinen kuntoPhysical functionBiomarker (medicine)Smoking statusepidemiologyFemaleHEALTHBirth cohortmedicine.medical_specialtyBIOMARKERSfyysinen toimintakyky03 medical and health sciencesphysical functionHumansFRAILTYAgedbusiness.industryMORTALITYDISABILITYagingbiomarkersTelomere HomeostasisTelomere030104 developmental biologyikääntyminenPhysical performancetelomeeritbusinessOlder peopleBody mass index030217 neurology & neurosurgeryDevelopmental BiologyDemographyFollow-Up StudiesMechanisms of ageing and development
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Telomere Length and Frailty: The Helsinki Birth Cohort Study

2018

Objectives: Telomere length is associated with aging-related pathologies. Although the association between telomere length and frailty has been studied previously, only a few studies assessing longitudinal changes in telomere length and frailty exist. Design: Longitudinal cohort study. Setting and participants: A subpopulation of the Helsinki Birth Cohort Study consisting of 1078 older adults aged 67 to 79 years born in Helsinki, Finland, between 1934 and 1944. Measures: Relative leukocyte telomere length (LTL) was measured using quantitative real-time polymerase chain reaction at the average ages of 61 and 71 years, and at the latter the participants were assessed for frailty according to …

0301 basic medicineMaleAgingBODY-WATERbiomarkkeritvanheneminenPHENOTYPECohort StudiesRisk FactorsElectric ImpedanceMedicineLongitudinal StudiesLongitudinal cohortOXIDATIVE STRESSGeneral NursingFinlandTelomere ShorteningtelomeregerasteniaFrailtyHealth PolicyConfoundingAge FactorsRISK FACTORta3142General MedicineASSOCIATIONMiddle Aged3. Good healthCohortBody CompositionbiomarkerFemaleBirth cohortLongevityfrailtyta311103 medical and health sciencesSex FactorsINFLAMMATIONHumansELDERLY CHINESERisk factorOLDER-ADULTSAgedbusiness.industryMORTALITYBiomarkerConfidence intervalTelomere030104 developmental biologyPHYSICAL-ACTIVITYCross-Sectional StudiesSocioeconomic FactorsmarkkeritRelative risk3121 General medicine internal medicine and other clinical medicinetelomeeritGeriatrics and Gerontologybusinesshauraus-raihnausoireyhtymäDemographyJournal of the American Medical Directors Association
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The population genomics of archaeological transition in west Iberia: Investigation of ancient substructure using imputation and haplotype-based metho…

2017

We analyse new genomic data (0.05–2.95x) from 14 ancient individuals from Portugal distributed from the Middle Neolithic (4200–3500 BC) to the Middle Bronze Age (1740–1430 BC) and impute genomewide diploid genotypes in these together with published ancient Eurasians. While discontinuity is evident in the transition to agriculture across the region, sensitive haplotype-based analyses suggest a significant degree of local hunter-gatherer contribution to later Iberian Neolithic populations. A more subtle genetic influx is also apparent in the Bronze Age, detectable from analyses including haplotype sharing with both ancient and modern genomes, D-statistics and Y-chromosome lineages. However, t…

0301 basic medicineMaleCancer ResearchHistoryHereditySteppePopulation geneticsGenetic LinkagePopulation geneticsStone AgeSocial SciencesQH426-470Population genomics0302 clinical medicineddc:590Databases GeneticGenetics(clinical)Sequencing dataGenetics (clinical)MigrationGenetics0303 health sciencesgeography.geographical_feature_categoryGenomeAncient DNAGeographyPaleogeneticsGeologyGenomicsCChumanitiesPositive selectionEuropeGenetic MappingPhylogeographyGeographyBiogeographyArchaeologyNeolithic PeriodlanguageFemaleResearch Articlelcsh:QH426-470GenotypeIntrogressionVariant GenotypesAdmixtureBiologyInsightsAssociation03 medical and health sciencesAgeBronze AgeGeneticsHumansGenetic variationQH426Molecular BiologyEcology Evolution Behavior and Systematics030304 developmental biologyEvolutionary BiologyChromosomes Human YHuman genomePopulation BiologyPortugalGenome HumanHaplotypeEcology and Environmental SciencesBiology and Life SciencesPaleontologyGenetic VariationGeologic TimeDnaSequence Analysis DNAArchaeologylanguage.human_languagePhylogeographylcsh:Genetics030104 developmental biologyAncient DNAGenetics PopulationHaplotypesEvolutionary biologyEarth SciencesIberiaPortuguesePaleogenetics030217 neurology & neurosurgeryImputation (genetics)Population GeneticsPLoS Genetics
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Exome-wide somatic mutation characterization of small bowel adenocarcinoma

2018

Small bowel adenocarcinoma (SBA) is an aggressive disease with limited treatment options. Despite previous studies, its molecular genetic background has remained somewhat elusive. To comprehensively characterize the mutational landscape of this tumor type, and to identify possible targets of treatment, we conducted the first large exome sequencing study on a population-based set of SBA samples from all three small bowel segments. Archival tissue from 106 primary tumors with appropriate clinical information were available for exome sequencing from a patient series consisting of a majority of confirmed SBA cases diagnosed in Finland between the years 2003–2011. Paired-end exome sequencing was…

0301 basic medicineMaleCancer ResearchMICROSATELLITE INSTABILITYColorectal canceroncogenesReceptor ErbB-2medicine.disease_causeCOLORECTAL-CANCERACTIVATIONCohort Studies0302 clinical medicineAnimal CellsAdenocarcinomasMedicine and Health SciencesExomeFrameshift MutationExomeGenetics (clinical)Exome sequencingAged 80 and overSMALL-INTESTINEeducation.field_of_study1184 Genetics developmental biology physiologyCELIAC-DISEASENonsense MutationMiddle Aged3. Good healthsyöpägeenitOncology030220 oncology & carcinogenesissyöpätauditFemaleSIGNALING PATHWAYKRASCellular TypesResearch ArticleAdultProto-Oncogene Proteins B-raflcsh:QH426-470SEQUENCING DATAImmune CellsNonsense mutationPopulationImmunologyAntigen-Presenting CellsComputational biologysuolistosyövätBiologyAdenocarcinomata3111CarcinomasFrameshift mutation03 medical and health sciencesGermline mutationQUALITY-CONTROLGenetiikka kehitysbiologia fysiologia - Genetics developmental biology physiologySyöpätaudit - CancersIntestinal NeoplasmsmedicineGeneticsPoint MutationHumanseducationMolecular BiologyEcology Evolution Behavior and SystematicsAgedColorectal CancerBiology and Life SciencesCancers and Neoplasmscancerous diseasesCell Biologymedicine.diseaseta3122mutationsCOMPREHENSIVE MOLECULAR CHARACTERIZATIONlcsh:Genetics030104 developmental biologyMutationSomatic Mutationbowel cancer3111 BiomedicinemutaatiotHIGH-RESOLUTIONPLoS Genetics
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