Search results for "Phenotyping"

showing 10 items of 197 documents

Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease

2020

Abstract Background Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. Methods To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for > 170,000 photographs from UKBB. We searched for early AMD loc…

0301 basic medicinegenetic structures610 MedizinGenome-wide association studyMacular Degeneration0302 clinical medicineAdvanced diseaseCD46Genetics (clinical)GeneticsInternational AMD genomics consortium (IAMDGC)ddc:6100303 health sciencesGenome-wide association study (GWAS)3. Good health030220 oncology & carcinogenesisAge-related macular degeneration (AMD)Meta-analysisResearch ArticleGenetic Markerslcsh:Internal medicineUK biobank (UKBB)lcsh:QH426-470Locus (genetics)GenomicsComputational biologyBiologyPolymorphism Single NucleotideGenome-wide association study (GWAS) Meta-analysis Age-related macular degeneration (AMD) Early AMD CD46 TYR International AMD genomics consortium (IAMDGC) UK biobank (UKBB) Machine-learning Automated phenotyping03 medical and health sciencesEarly AMDGeneticsmedicineHumansGenetic Predisposition to DiseaseGenome-wide Association Study (gwas) ; Meta-analysis ; Age-related Macular Degeneration (amd) ; Early Amd ; Cd46 ; Tyr ; International Amd Genomics Consortium (iamdgc) ; Uk Biobank (ukbb) ; Machine-learning ; Automated Phenotypinglcsh:RC31-1245Machine-learning030304 developmental biologyTYRCD46Macular degenerationmedicine.diseaseHuman geneticseye diseasesGenetic architectureMeta-analysislcsh:Genetics030104 developmental biologyGenetic LociCase-Control StudiesAutomated phenotypingHTRA1030221 ophthalmology & optometrysense organsGenome-Wide Association Study
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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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Human CD4 T-Cells With a Naive Phenotype Produce Multiple Cytokines During Mycobacterium Tuberculosis Infection and Correlate With Active Disease

2018

T-cell-mediated immune responses play a fundamental role in controlling Mycobacterium tuberculosis (M. tuberculosis) infection, and traditionally, this response is thought to be mediated by Th1-type CD4+ T-cells secreting IFN-γ. While studying the function and specificity of M. tuberculosis-reactive CD4+ T-cells in more detail at the single cell level; however, we found a human CD4+ T-cell population with a naive phenotype that interestingly was capable of producing multiple cytokines (TCNP cells). CD4+ TCNP cells phenotyped as CD95lo CD28int CD49dhi CXCR3hi and showed a broad distribution of T cell receptor Vβ segments. They rapidly secreted multiple cytokines in response to different M. t…

0301 basic medicinelcsh:Immunologic diseases. AllergyAdultCD4-Positive T-LymphocytesMaleTuberculosisTuberculosiReceptors Antigen T-Cell alpha-betaPopulationImmunologyNaive cellMycobacterium tuberculosiBiologyImmunophenotypingMycobacterium tuberculosis03 medical and health sciencesYoung AdultImmune systemAntigenT-Lymphocyte SubsetsCD4 T-cellsmedicineImmunology and AllergyHumanseducationCytokineOriginal Researcheducation.field_of_studyAntigens BacterialLatent tuberculosisT-cell receptorMycobacterium tuberculosismedicine.diseasebiology.organism_classificationPhenotypecytokines3. Good healthCD4 Lymphocyte Count030104 developmental biologyPhenotypenaive cellstuberculosisCD4 T-cellImmunologyDisease ProgressionFemalelcsh:RC581-607Frontiers in Immunology
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Nitration of Wheat Amylase Trypsin Inhibitors Increases Their Innate and Adaptive Immunostimulatory Potential

2018

Amylase trypsin inhibitors (ATI) can be found in all gluten containing cereals and are, therefore, ingredient of basic foods like bread or pasta. In the gut ATI can mediate innate immunity via activation of the Toll-like receptor 4 (TLR4) on immune cells residing in the lamina propria, promoting intestinal, as well as extra-intestinal, inflammation. Inflammatory conditions can induce formation of peroxynitrite (ONOO-) and, thereby, endogenous protein nitration in the body. Moreover, air pollutants like ozone (O3) and nitrogen dioxide (NO2) can cause exogenous protein nitration in the environment. Both reaction pathways may lead to the nitration of ATI. To investigate if and how nitration mo…

0301 basic medicinelcsh:Immunologic diseases. AllergyCell SurvivalT cellnon-celiac wheat sensitivityImmunologyInflammationAdaptive ImmunityImmunophenotyping03 medical and health scienceschemistry.chemical_compound0302 clinical medicineImmune systemprotein nitrationT-Lymphocyte SubsetsNitrationCell Line TumorwheatmedicineImmunology and AllergyHumansamylase trypsin inhibitorsTriticumPlant ProteinsOriginal ResearchInnate immune systemMacrophagesfood and beveragesDendritic CellsTetranitromethaneallergyImmunity InnateToll-Like Receptor 4030104 developmental biologymedicine.anatomical_structurechemistryBiochemistryAmylasesTLR4Cytokinesmedicine.symptomlcsh:RC581-607Trypsin InhibitorsPeroxynitriteBiomarkers030215 immunologyFrontiers in immunology
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Myeloid-Derived Suppressor Cells Specifically Suppress IFN-γ Production and Antitumor Cytotoxic Activity of Vδ2 T Cells.

2018

γδ T cells represent less than 5% of circulating T cells; they exert a potent cytotoxic function against tumor or infected cells and secrete cytokines like conventional αβ T cells. As αβ T cells γδ T cells reside in the typical T cell compartments (the lymph nodes and spleen), but are more widely distributed in tissues throughout the body. For these reasons, some investigators are exploring the possibility of immunotherapies aimed to expand and activate Vδ2 T cells, or using them as Chimeric Antigen Receptor carriers. However, the role of immunosuppressive microenvironment on Vδ2 T cells during infections and cancers has not been completely elucidated. In particular, the effects of myeloid-…

0301 basic medicinelcsh:Immunologic diseases. AllergyCytotoxicity Immunologicγmedicine.medical_treatmentT cellδImmunologyAntitumoral activityT cellsSpleenLymphocyte ActivationJurkat cellsγδ T cellsImmunophenotyping03 medical and health sciencesInterferon-gamma0302 clinical medicineT-Lymphocyte SubsetsCell Line TumorNeoplasmsmedicineMyeloid-derived suppressor cellImmunology and AllergyCytotoxic T cellHumansIFN-γantitumoral activityArginaseChemistryMyeloid-Derived Suppressor CellsDegranulationReceptors Antigen T-Cell gamma-deltaImmunotherapy030104 developmental biologymedicine.anatomical_structureCell cultureCancer researchMyeloid-derived Suppressor CellLeukocytes MononuclearCytokinesImmunotherapyimmunotherapylcsh:RC581-607Biomarkers030215 immunologyFrontiers in immunology
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Elevated sodium leads to the increased expression of HSP60 and induces apoptosis in HUVECs

2017

Atherosclerosis is the leading cause of death in the world. We have previously shown that expression of heat shock protein 60 (HSP60) on the surface of endothelial cells is the main cause of initiating the disease as it acts as a T cell auto-antigen and can be triggered by classical atherosclerosis risk factors, such as infection (e.g. Chlamydia pneumoniae), chemical stress (smoking, oxygen radicals, drugs), physical insult (heat, shear blood flow) and inflammation (inflammatory cytokines, lipopolysaccharide, oxidized low density lipoprotein, advanced glycation end products). In the present study, we show that increasing levels of sodium chloride can also induce an increase in intracellular…

0301 basic medicinelcsh:MedicineApoptosisBlood PressureSodium Chloride030204 cardiovascular system & hematologyVascular MedicineHeat Shock ResponseEpitheliumUmbilical veinWhite Blood CellsSpectrum Analysis Techniques0302 clinical medicineAnimal CellsGlycationMedicine and Health Scienceslcsh:ScienceCellular Stress ResponsesMultidisciplinaryCell DeathT CellsFlow CytometryProtein TransportChemistryCell ProcessesSpectrophotometryPhysical SciencesHypertensionCytophotometryCellular TypesAnatomymedicine.symptomIntracellularResearch Articlemedicine.medical_specialtyImmune CellsSodiumImmunologychemistry.chemical_elementInflammationBiologyResearch and Analysis MethodsImmunophenotypingProinflammatory cytokine03 medical and health sciencesInternal medicineHeat shock proteinHuman Umbilical Vein Endothelial CellsmedicineHumansHeat shockBlood CellsSodiumlcsh:RChemical CompoundsBiology and Life SciencesEndothelial CellsEpithelial CellsChaperonin 60Cell BiologyAtherosclerosisBiological Tissue030104 developmental biologyEndocrinologyGene Expression RegulationchemistryImmunologySaltslcsh:QBiomarkersPLOS ONE
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A practical algorithmic approach to mature aggressive B cell lymphoma diagnosis in the double/triple hit era. Selecting cases, matching clinical bene…

2019

An accurate diagnosis of clinically distinct subgroups of aggressive mature B cell lymphomas is crucial for the choice of proper treatment. Presently, precise recognition of these disorders relies on the combination of morphological, immunophenotypical, and cytogenetic/molecular features. The diagnostic workup in such situations implies the application of costly and time-consuming analyses, which are not always required, since an intensified treatment option is reasonably reserved to fit patients. The Italian Group of Haematopathology proposes herein a practical algorithm for the diagnosis of aggressive mature B cell lymphomas based on a stepwise approach, aimed to select cases deserving mo…

0301 basic medicinemedicine.medical_specialtyMatching (statistics)Lymphoma B-CellLymphomadouble hitComputer scienceMYCDouble hitFluorescencePathology and Forensic MedicineImmunophenotyping03 medical and health sciences0302 clinical medicineFISHDiagnosismedicinePractical algorithmHumansIntensive care medicineB-cell lymphomaMolecular BiologyIn Situ HybridizationIn Situ Hybridization FluorescenceHGBLBrief ReportB-CellTreatment optionsCorrectionDiagnosis; DLBCL; Double hit; FISH; HGBL; MYC; Humans; Immunophenotyping; In Situ Hybridization Fluorescence; Lymphoma B-Cell; AlgorithmsCell BiologyGeneral MedicineDiagnosis DLBCL Double hit FISH HGBL MYCmedicine.diseaseDiagnosis; DLBCL; double hit; FISH; HGBL; MYCOptimal managementMolecular analysis030104 developmental biology030220 oncology & carcinogenesisDLBCLPosition paperProper treatmentAlgorithmsDiagnosiHuman
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Minimal hepatic encephalopathy is associated with expansion and activation of CD4+CD28−, Th22 and Tfh and B lymphocytes

2017

AbstractPeripheral inflammation acts synergistically with hyperammonemia in inducing neurological alterations in cirrhotic patients with minimal hepatic encephalopathy (MHE). We hypothesized that appearance of MHE would be associated to some specific qualitative change in peripheral inflammation. The aim of this work was to characterize the changes in peripheral inflammation associated to appearance of MHE. We analyzed it by immunophenotyping and cytokine profile analysis, in cirrhotic patients without or with MHE and controls. The main alterations associated specifically with MHE are: 1) increased activation of all subtypes of CD4+ T-lymphocytes, with the increased expression of CD69; 2) i…

0301 basic medicinemedicine.medical_specialtyScienceInflammationArticleMonocytesImmunophenotyping03 medical and health sciencesImmune systemImmunophenotypingCD28 AntigensInternal medicinemedicineHumansCX3CL1Hepatic encephalopathyB-LymphocytesMultidisciplinarybusiness.industryCD69QRCD28HyperammonemiaT-Lymphocytes Helper-Inducermedicine.disease030104 developmental biologyEndocrinologyHepatic EncephalopathyImmunoglobulin GCD4 AntigensImmunologyMedicineCytokinesmedicine.symptombusinesshuman activitiesScientific Reports
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Raman spectroscopy as a tool for ecology and evolution.

2017

7 pages; International audience; Scientists are always on the lookout for new modalities of information which could reveal new biological features that are useful for deciphering the complexity of biological systems. Here, we introduce Raman spectroscopy as a prime candidate for ecology and evolution. To encourage the integration of this microscopy technique in the field of ecology and evolution, it is crucial to discuss first how Raman spectroscopy fits within the conceptual, technical and pragmatic considerations of ecology and evolution. In this paper, we show that the spectral information holds reliable indicators of intra- and interspecies variations, which can be related to the enviro…

0301 basic medicinephenotypingEcology (disciplines)1004Biomedical EngineeringBiophysicsBioengineeringNanotechnology69BiologySpectrum Analysis RamanBiochemistryBiomaterials03 medical and health sciencessymbols.namesakeSpecies SpecificitypigmentLife Sciences–Chemistry interfaceAnimalsexperimental evolutionEcosystemExperimental evolution[ SDE.BE ] Environmental Sciences/Biodiversity and EcologyModality (human–computer interaction)Scope (project management)3070Data scienceBiological EvolutionField (geography)030104 developmental biologyPerspectiveRaman spectroscopysymbolsvibrational imagingEvolutionary ecologyecology[SDE.BE]Environmental Sciences/Biodiversity and EcologyRaman spectroscopyBiotechnology
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Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

2021

Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining C…

3D tumoroids; Array CGH; Clonal evolution; Neuroblastoma; Pharmacogenetics; Recurrent tumor; Single nucleotide variants; Whole exome sequencing; Child Preschool; Disease Progression; Drug Resistance Neoplasm; Fatal Outcome; Humans; Immunophenotyping; Neuroblastoma; Polymorphism Single Nucleotide; Comparative Genomic Hybridization; Whole Exome SequencingQH301-705.5Drug Resistanceclonal evolutionCase Report3D tumoroidsSingle-nucleotide polymorphismDiseaseComputational biologyBiologyMalignancyPolymorphism Single NucleotideSomatic evolution in cancerImmunophenotypingwhole exome sequencingNeuroblastomaFatal OutcomeNeuroblastomaExome SequencingmedicineHumansarray CGHrecurrent tumorPolymorphismBiology (General)ChildPreschoolExome sequencingTumorsComparative Genomic HybridizationSingle NucleotideGeneral Medicinemedicine.diseaseSingle nucleotide variantsDrug Resistance NeoplasmPharmacogeneticsChild PreschoolDisease ProgressionFarmacogenèticaNeoplasmPharmacogeneticsComparative genomic hybridization
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