Search results for " Phenotype"

showing 10 items of 219 documents

Quantitative and qualitative profiles of circulating monocytes may help identifying tuberculosis infection and disease stages

2017

Tuberculosis (TB) is one of the most important cause of morbidity and death among infectious diseases, and continuous efforts are needed to improve diagnostic tools and therapy. Previous published studies showed that the absolute cells number of monocytes or lymphocytes in peripheral blood or yet the ratio of monocytes to lymphocytes displayed the ability to predict the risk of active TB. In the present study we evaluated the ratio of monocytes to lymphocytes variation and we also analyzed the ex-vivo expression of CD64 on monocytes as tools to identify biomarkers for discriminating TB stages. Significant differences were found when the average ratio of monocytes to lymphocytes of active TB…

0301 basic medicineBacterial DiseasesMalelcsh:MedicineMycobacterium tuberculosiMonocyteMonocytesWhite Blood Cells0302 clinical medicineAnimal CellsMedicine and Health SciencesLymphocyteslcsh:ScienceImmune ResponseAged 80 and overMultidisciplinarybiologyMiddle Aged3. Good healthActinobacteriamedicine.anatomical_structureInfectious DiseasesPhenotypeAdolescent; Adult; Aged; Aged 80 and over; Biomarkers; Case-Control Studies; Female; Humans; Male; Middle Aged; Monocytes; Mycobacterium tuberculosis; Phenotype; Tuberculosis; Young Adult; Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)Biomarker (medicine)Tuberculosis Diagnosis and ManagementFemaleCellular TypesCase-Control StudieResearch ArticleHumanAdultTuberculosisAdolescentTuberculosiImmune CellsImmunologyMycobacterium tuberculosis03 medical and health sciencesYoung AdultTuberculosis diagnosisDiagnostic MedicinemedicineHumansTuberculosisAgedBlood CellsBiochemistry Genetics and Molecular Biology (all)Receiver operating characteristicBacteriabusiness.industryMonocytelcsh:RCase-control studyOrganismsBiology and Life SciencesMycobacterium tuberculosisCell BiologyBiomarkerbiology.organism_classificationmedicine.diseaseTropical DiseasesConfidence interval030104 developmental biologyAgricultural and Biological Sciences (all)Case-Control StudiesImmunologylcsh:QbusinessBiomarkers030215 immunology
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Genetics and Evolution of Social Behavior in Insects

2017

The study of insect social behavior has offered tremendous insight into the molecular mechanisms mediating behavioral and phenotypic plasticity. Genomic applications to the study of eusocial insect species, in particular, have led to several hypotheses for the processes underlying the molecular evolution of behavior. Advances in understanding the genetic control of social organization have also been made, suggesting an important role for supergenes in the evolution of divergent behavioral phenotypes. Intensive study of social phenotypes across species has revealed that behavior and caste are controlled by an interaction between genetic and environmentally mediated effects and, further, tha…

0301 basic medicineBehavioral phenotypesInsectaGenome InsectGenes InsectGenomicsBiology03 medical and health sciencesMolecular evolutionGeneticsAnimalsSocial BehaviorSocial organizationGeneticsPhenotypic plasticityBehavior AnimalGene Expression ProfilingCasteBiological EvolutionEusocialityPhenotypePhenotype030104 developmental biologyGene Expression RegulationEvolutionary biologyGene-Environment InteractionAnnual Review of Genetics
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Identification of clinical phenotypes and related survival in patients with large hccs

2021

Background. Hepatocellular carcinoma (HCC) factors, especially maximum tumor diameter (MTD), tumor multifocality, portal vein thrombosis (PVT), and serum alpha-fetoprotein (AFP), influence survival. Aim. To examine patterns of tumor factors in large HCC patients. Methods. A database of large HCC patients was examined. Results. A multiple Cox proportional hazard model on death identified low serum albumin levels and the presence of PVT and multifocality, with each having a hazard ratio ≥2.0. All combinations of these three parameters were examined in relation to survival. Using univariate Cox analysis, the combination of albumin &gt

0301 basic medicineCancer Researchmedicine.medical_specialtyPVTSettore MED/12 - GASTROENTEROLOGIASerum albuminlcsh:RC254-282GastroenterologyArticle03 medical and health sciences0302 clinical medicineInternal medicineMedicinePlateletHCCneoplasmsSurvival ratePVT.biologybusiness.industryProportional hazards modelAlbuminHazard ratioSettore MED/09 - MEDICINA INTERNAAlbuminMultifocalityHCC; large; phenotypes; PVT; multifocality; albuminlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseasedigestive system diseasesPortal vein thrombosisAlbumin; HCC; Large; Multifocality; Phenotypes; PVTPhenotypesPhenotype030104 developmental biologyOncology030220 oncology & carcinogenesisHepatocellular carcinomabiology.proteinLargebusiness
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Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

2017

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationw…

0301 basic medicineCandidate geneGenetic testingSettore MED/09 - Medicina InternaDatabases FactualDNA Mutational AnalysisDiseaseFamilial hypercholesterolemia030204 cardiovascular system & hematology0302 clinical medicineDyslipidemias; Genetic testing; National network; Internal Medicine; Cardiology and Cardiovascular MedicineRisk FactorsProspective StudiesProgram DevelopmentProspective cohort studymedicine.diagnostic_testGeneral MedicinePrognosisCholesterolPhenotypeItalyCardiology and Cardiovascular MedicineGenetic Markersmedicine.medical_specialtyNational networkDyslipidemias; Genetic testing; National networkMEDLINEHyperlipoproteinemia Type II03 medical and health sciencesDatabasesInternal medicinemedicineInternal MedicineHumansGenetic Predisposition to DiseaseFactualGenetic testingRetrospective StudiesDyslipidemiasbusiness.industrySettore MED/13 - ENDOCRINOLOGIARetrospective cohort studymedicine.diseaseAtherosclerosisDyslipidemias; Genetic testing; National network; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Prognosis; Program Development; Prospective Studies; Retrospective Studies; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine030104 developmental biologyEndocrinologyDyslipidemiaGenetic markerMutationbusiness
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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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Overview of General and Discriminating Markers of Differential Microglia Phenotypes.

2020

Inflammatory processes and microglia activation accompany most of the pathophysiological diseases in the central nervous system. It is proven that glial pathology precedes and even drives the development of multiple neurodegenerative conditions. A growing number of studies point out the importance of microglia in brain development as well as in physiological functioning. These resident brain immune cells are divergent from the peripherally infiltrated macrophages, but their precise in situ discrimination is surprisingly difficult. Microglial heterogeneity in the brain is especially visible in their morphology and cell density in particular brain structures but also in the expression of cell…

0301 basic medicineCentral nervous systemInflammationReviewBiologylcsh:RC321-571M1/M2 phenotype03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineImmune systemneurotoxicitymedicineCytotoxic T celllcsh:Neurosciences. Biological psychiatry. NeuropsychiatrypolarizationMicrogliaRegeneration (biology)Neurotoxicityinfiltrating macrophagesmedicine.diseasePhenotype030104 developmental biologymedicine.anatomical_structureinflammationCellular Neuroscienceregenerationmicroglial heterogeneitymedicine.symptomNeuroscience030217 neurology & neurosurgeryFrontiers in cellular neuroscience
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Guidelines for the use of flow cytometry and cell sorting in immunological studies (second edition)

2019

All authors: Andrea Cossarizza Hyun‐Dong Chang Andreas Radbruch Andreas Acs Dieter Adam Sabine Adam‐Klages William W. Agace Nima Aghaeepour Mübeccel Akdis Matthieu Allez Larissa Nogueira Almeida Giorgia Alvisi Graham Anderson Immanuel Andrä Francesco Annunziato Achille Anselmo Petra Bacher Cosima T. Baldari Sudipto Bari Vincenzo Barnaba Joana Barros‐Martins Luca Battistini Wolfgang Bauer Sabine Baumgart Nicole Baumgarth Dirk Baumjohann Bianka Baying Mary Bebawy Burkhard Becher Wolfgang Beisker Vladimir Benes Rudi Beyaert Alfonso Blanco Dominic A. Boardman Christian Bogdan Jessica G. Borger Giovanna Borsellino Philip E. Boulais Jolene A. Bradford Dirk Brenner Ryan R. Brinkman Anna E. S. Broo…

0301 basic medicineConsensusImmunologyConsensuCell SeparationBiologyArticleFlow cytometry03 medical and health sciences0302 clinical medicineGuidelines ; Immunology ; Flow cytometryAllergy and ImmunologymedicineCell separationImmunology and AllergyHumansguidelines; flow cytometry; immunologymedicine.diagnostic_testBIOMEDICINE AND HEALTHCARE. Basic Medical Sciences.Cell sortingFlow CytometryCell selectionData science3. Good health030104 developmental biologyPhenotypeAllergy and Immunology; Cell Separation; Consensus; Flow Cytometry; Humans; Phenotype[SDV.IMM]Life Sciences [q-bio]/ImmunologyBIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti.030215 immunologyHumanEuropean journal of immunology
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Longitudinal Investigation into Genetics in the Conservation of Metabolic Phenotypes in Danish and Chinese Twins

2016

Longitudinal twin studies on long term conservation of individual metabolic phenotypes can help to explore the genetic and environmental basis in maintaining metabolic homeostasis and metabolic health. We performed a longitudinal twin study on 12 metabolic phenotypes from Danish twins followed up for 12 years and Chinese twins traced for 7 years. The study covered a relatively large sample of 502 pairs of Danish adult twins with a mean age at intake of 38 years and a total of 181 Chinese adult twin pairs with a mean baseline age of 39.5 years. Bivariate twin models were fitted to the longitudinal measurements taken at two time points (at baseline and follow-up) to estimate the genetic and e…

0301 basic medicineDenmarkTwinslcsh:MedicineGene ExpressionBlood PressureVascular MedicineBiochemistryCorrelation0302 clinical medicineGlucose MetabolismMedicine and Health SciencesEthnicitiesLongitudinal Studieslcsh:Sciencemetabolic phenotypes phenotype stability Danish Chinese twin modelsGeneticsMultidisciplinaryCovarianceDanesPhenotypePhenotypesPhenotypePhysical ScienceslanguageCarbohydrate MetabolismEnvironmental regulationResearch ArticleAdultChina030209 endocrinology & metabolismBivariate analysisBiologyDanish03 medical and health sciencesGeneticsHumansGene RegulationMetabolic healthlcsh:RBiology and Life SciencesRandom VariablesProbability TheoryTwin studylanguage.human_languageMetabolism030104 developmental biologyBlood pressurePeople and Placeslcsh:QPopulation GroupingsMathematicsDevelopmental BiologyPLOS ONE
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DNA Hypomethylation and Histone Variant macroH2A1 Synergistically Attenuate Chemotherapy-Induced Senescence to Promote Hepatocellular Carcinoma Progr…

2016

Abstract Aging is a major risk factor for progression of liver diseases to hepatocellular carcinoma (HCC). Cellular senescence contributes to age-related tissue dysfunction, but the epigenetic basis underlying drug-induced senescence remains unclear. macroH2A1, a variant of histone H2A, is a marker of senescence-associated heterochromatic foci that synergizes with DNA methylation to silence tumor-suppressor genes in human fibroblasts. In this study, we investigated the relationship between macroH2A1 splice variants, macroH2A1.1 and macroH2A1.2, and liver carcinogenesis. We found that protein levels of both macroH2A1 isoforms were increased in the livers of very elderly rodents and humans, a…

0301 basic medicineEpigenomicsCHROMATINCancer ResearchLIVERCancer Research; OncologyGene ExpressionSECRETORY PHENOTYPEHCV CORE PROTEINHistonesCell MovementProtein IsoformsCellular SenescenceEpigenomicsAged 80 and overMice KnockoutbiologyLiver NeoplasmsMETHYLATIONHep G2 CellsCANCERChromatinHistoneOncologyDNA methylationAzacitidineDisease ProgressionCell agingSTEM-CELLSSenescenceAdultEXPRESSIONCarcinoma HepatocellularArticle5-AZA-2'-DEOXYCYTIDINE03 medical and health sciencesCell Line TumorAnimalsHumansEpigeneticsCell ProliferationDNA Methylationbeta-GalactosidaseMolecular biologyMice Inbred C57BLMICE030104 developmental biologybiology.proteinCancer researchDNA hypomethylation
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New ΦBT1 site-specific integrative vectors with neutral phenotype in Streptomyces.

2016

Integrative plasmids are one of the best options to introduce genes in low copy and in a stable form into bacteria. The ΦC31-derived plasmids constitute the most common integrative vectors used in Streptomyces. They integrate at different positions (attB and pseudo-attB sites) generating different mutations. The less common ΦBT1-derived vectors integrate at the unique attB site localized in the SCO4848 gene (S. coelicolor genome) or their orthologues in other streptomycetes. This work demonstrates that disruption of SCO4848 generates a delay in spore germination. SCO4848 is co-transcribed with SCO4849, and the spore germination phenotype is complemented by SCO4849. Plasmids pNG1-4 were crea…

0301 basic medicineGenetics Microbial030106 microbiologyGenetic VectorsSettore BIO/19 - Microbiologia GeneraleGenomeStreptomycesApplied Microbiology and Biotechnology03 medical and health sciencesPlasmidAmp resistanceSpore germinationEscherichia coliNeutral phenotypeBacteriophagesVector (molecular biology)GeneMolecular BiologyGeneticsRecombination GeneticbiologyfungiGeneral Medicinebiology.organism_classificationPhenotypeΦBT1 integrative vectorStreptomyces030104 developmental biologyPhenotypeStreptomyceHeterologous expression; Neutral phenotype; Streptomyces; ΦBT1 integrative vector; Biotechnology; Applied Microbiology and BiotechnologyHeterologous expressionBiotechnologyPlasmidsApplied microbiology and biotechnology
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