Search results for "CIP"

showing 10 items of 15068 documents

BRCA1/2 molecular assay for ovarian cancer patients: A survey through Italian departments of oncology and molecular and genomic diagnostic laboratori…

2019

In Italy, 5200 new ovarian cancers were diagnosed in 2018, highlighting an increasing need to test women for BRCA1/2. The number of labs offering this test is continuously increasing. The aim of this study was to show the results coming from the intersociety survey coordinated by four different Clinical and Laboratory Italian Scientific Societies (AIOM, SIAPEC-IAP, SIBIOC, and SIGU). A multidisciplinary team belonging to the four scientific societies drew up two different questionnaires: One was targeted toward all Italian Departments of Medical Oncology, and the second toward laboratories of clinical molecular biology. This survey was implemented from September 2017 to March 2018. Seventy-…

0301 basic medicineOncologymedicine.medical_specialtyGenetic counselingClinical BiochemistrySomatic BRCAMultidisciplinary teamArticle03 medical and health sciences0302 clinical medicineInternal medicinePARP-1imedicine<i>brca1/2</i> assayslcsh:R5-920business.industryBRCA1/2 assaysBRCA1/2 assayOvary cancerTest (assessment)Laboratory test030104 developmental biologyMulticenter study030220 oncology & carcinogenesisCancer geneticsPretest posttestNGSlcsh:Medicine (General)businessBRCA1/2 assays; NGS; PARP-1i; Somatic BRCA
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Epigenomic landscape of human colorectal cancer unveils an aberrant core of pan-cancer enhancers orchestrated by YAP/TAZ

2021

Cancer is characterized by pervasive epigenetic alterations with enhancer dysfunction orchestrating the aberrant cancer transcriptional programs and transcriptional dependencies. Here, we epigenetically characterize human colorectal cancer (CRC) using de novo chromatin state discovery on a library of different patient-derived organoids. By exploring this resource, we unveil a tumor-specific deregulated enhancerome that is cancer cell-intrinsic and independent of interpatient heterogeneity. We show that the transcriptional coactivators YAP/TAZ act as key regulators of the conserved CRC gained enhancers. The same YAP/TAZ-bound enhancers display active chromatin profiles across diverse human t…

0301 basic medicineOrganoidEpigenomicsTranscription FactorGeneral Physics and AstronomyColorectal NeoplasmAdaptor Proteins Signal Transducing; Colorectal Neoplasms; Gene Expression Regulation Neoplastic; Histone Code; Humans; Models Genetic; Organoids; RNA-Seq; Single-Cell Analysis; Trans-Activators; Transcription Factors; Tumor Cells Cultured; Enhancer Elements Genetic; Epigenesis GeneticEpigenesis Genetic0302 clinical medicineModelsAdaptor Proteins Signal Transducing Colorectal Neoplasms Gene Expression Regulation NeoplasticHistone Code Humans Models Genetic Organoids RNA-Seq Single-Cell Analysis Trans-Activators Transcription Factors Tumor Cells Cultured Enhancer Elements Genetic Epigenesis GeneticTumor Cells CulturedCancer genomicsHistone codeRNA-SeqEpigenomicsAdaptor Proteins Signal Transducing; Colorectal Neoplasms; Gene Expression Regulation Neoplastic; Histone Code; Humans; Models Genetic; Organoids; RNA-Seq; Single-Cell Analysis; Trans-Activators; Transcription Factors; Transcriptional Coactivator with PDZ-Binding Motif Proteins; Tumor Cells Cultured; YAP-Signaling Proteins; Enhancer Elements Genetic; Epigenesis GeneticMultidisciplinaryCulturedQAdaptor Proteins3. Good healthChromatinTumor CellsGene Expression Regulation NeoplasticHistone CodeOrganoidsSingle-Cell AnalysiEnhancer Elements GeneticTrans-Activator030220 oncology & carcinogenesisSingle-Cell AnalysisColorectal NeoplasmsHumanEnhancer ElementsScienceTumour heterogeneityBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesGeneticmedicineHumansEpigeneticsEnhancerTranscription factorAdaptor Proteins Signal TransducingNeoplasticModels GeneticSignal TransducingCancerYAP-Signaling ProteinsGeneral Chemistrymedicine.diseaseColorectal cancerdigestive system diseases030104 developmental biologyGene Expression RegulationTranscriptional Coactivator with PDZ-Binding Motif ProteinsCancer cellCancer researchTrans-ActivatorsEpigenesisTranscription Factors
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Free-energy studies reveal a possible mechanism for oxidation-dependent inhibition of MGL

2016

AbstractThe function of monoacylglycerol lipase (MGL), a key actor in the hydrolytic deactivation of the endocannabinoid 2-arachidonoyl-sn-glycerol (2AG), is tightly controlled by the cell’s redox state: oxidative signals such as hydrogen peroxide suppress MGL activity in a reversible manner through sulfenylation of the peroxidatic cysteines, C201 and C208. Here, using as a starting point the crystal structures of human MGL (hMGL), we present evidence from molecular dynamics and metadynamics simulations along with high-resolution mass spectrometry studies indicating that sulfenylation of C201 and C208 alters the conformational equilibrium of the membrane-associated lid domain of MGL to favo…

0301 basic medicineOxidative phosphorylationMolecular Dynamics SimulationRedoxArticle03 medical and health scienceschemistry.chemical_compoundCatalytic DomainHumansCysteineHydrogen peroxideMultidisciplinary030102 biochemistry & molecular biologybiologyHydrogen bondMetadynamicsActive siteSubstrate (chemistry)Hydrogen BondingHydrogen PeroxideMonoacylglycerol LipasesMonoacylglycerol lipase030104 developmental biologyBiochemistrychemistrybiology.proteinBiophysicsThermodynamicsOxidation-ReductionProtein Processing Post-TranslationalProtein BindingScientific Reports
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Genomic and functional gene studies suggest a key role of beta-carotene oxygenase 1 like (bco1l) gene in salmon flesh color

2019

AbstractRed coloration of muscle tissue (flesh) is a unique trait in several salmonid genera, including Atlantic salmon. The color results from dietary carotenoids deposited in the flesh, whereas the color intensity is affected both by diet and genetic components. Herein we report on a genome-wide association study (GWAS) to identify genetic variation underlying this trait. Two SNPs on ssa26 showed strong associations to the flesh color in salmon. Two genes known to be involved in carotenoid metabolism were located in this QTL- region: beta-carotene oxygenase 1 (bco1) and beta-carotene oxygenase 1 like (bco1l). To determine whether flesh color variation is caused by one, or both, of these g…

0301 basic medicineOxygenasegenetic structuresQuantitative Trait LociSalmo salarPopulationlcsh:MedicineGenome-wide association studySingle-nucleotide polymorphismQuantitative trait locusBiologyArticle03 medical and health sciencesstomatognathic systemGenetic variationAnimalsVDP::Landbruks- og Fiskerifag: 900::Fiskerifag: 920::Fiskehelse: 923lcsh:ScienceeducationCarotenoidGenebeta-Carotene 1515'-Monooxygenasechemistry.chemical_classificationGeneticseducation.field_of_studyMultidisciplinary030102 biochemistry & molecular biologyPigmentationEukaryoteFleshlcsh:Rfood and beveragesGenomicsbeta CaroteneEnzymes030104 developmental biologychemistrylcsh:QGenome-Wide Association Study
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Substantial fat mass loss reduces low-grade inflammation and induces positive alteration in cardiometabolic factors in normal-weight individuals

2019

AbstractThe accumulation of fat, especially in visceral sites, is a significant risk factor for several chronic diseases with altered cardiometabolic homeostasis. We studied how intensive long-term weight loss and subsequent weight regain affect physiological changes, by longitudinally interrogating the lipid metabolism and white blood cell transcriptomic markers in healthy, normal-weight individuals. The current study examined 42 healthy, young (age: 27.5 ± 4.0 years), normal-weight (body mass index, BMI: 23.4 ± 1.7 kg/m2) female athletes, of which 25 belong to the weight loss and regain group (diet group), and 17 to the control group. Participants were evaluated, and fasting blood samples…

0301 basic medicinePanniculitisPhysiologyPROTEINmarkerslcsh:MedicinebiomarkkeritBody Mass IndexSERUM0302 clinical medicineWeight losslcsh:Scienceaineenvaihdunta2. Zero hungereducation.field_of_studyMultidisciplinarytulehdusCHOLESTEROLOrgan Size3. Good healthmedicine.anatomical_structureAdipose TissueCardiovascular DiseasesBody CompositionMetabolomemedicine.symptomOBESE WOMENBODY-COMPOSITIONPopulationInflammationHDL PARTICLE-SIZEArticle03 medical and health sciencesWhite blood cellmedicineHumansMetabolomicseducationExercisekehonkoostumusbody compositionbusiness.industryBody Weightlcsh:RDISEASE RISKLipid metabolismDietHIGH-RISKREDUCTION030104 developmental biologyPHYSICAL-ACTIVITYmarkkeritinflammation3121 General medicine internal medicine and other clinical medicinelcsh:Q3111 BiomedicinebusinessBody mass indexmetabolismBiomarkers030217 neurology & neurosurgeryHomeostasisLipoproteinScientific Reports
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Fasciola spp: Mapping of the MF6 epitope and antigenic analysis of the MF6p/HDM family of heme-binding proteins

2017

MF6p/FhHDM-1 is a small cationic heme-binding protein which is recognized by the monoclonal antibody (mAb) MF6, and abundantly present in parenchymal cells and secreted antigens of Fasciola hepatica. Orthologs of this protein (MF6p/HDMs) also exist in other causal agents of important foodborne trematodiasis, such as Clonorchis sinensis, Opisthorchis viverrini and Paragonimus westermani. Considering that MF6p/FhHDM-1 is relevant for heme homeostasis in Fasciola and was reported to have immunomodulatory properties, this protein is expected to be a useful target for vaccination. Thus, in this study we mapped the epitope recognized by mAb MF6 and evaluated its antigenicity in sheep. The sequenc…

0301 basic medicineParagonimus westermaniFasciola sppPhysiologyProtein ConformationFlatwormslcsh:MedicineProtein Structure PredictionBiochemistryEpitopeAntigenicEpitopes0302 clinical medicineAnimal CellsImmune PhysiologyMedicine and Health SciencesMacromolecular Structure AnalysisMF6p/HDMEnzyme-Linked Immunoassayslcsh:ScienceMammalsNeuronsImmune System ProteinsMultidisciplinaryFasciolabiologyVaccinationEukaryotaAntibodies MonoclonalRuminantsDendritic StructureVertebratesCellular TypesAntibodyResearch ArticleHemeproteinsProtein StructureAntigenicityFascioliasisHeme bindingImmunology030231 tropical medicineAntibodies HelminthEnzyme-Linked Immunosorbent AssayHemeResearch and Analysis MethodsTrematodesAntibodiesHeme-Binding Proteins03 medical and health sciencesHelminthsparasitic diseasesParasitic DiseasesFasciola hepaticaAnimalsImmunoassaysMolecular BiologySheeplcsh:ROrganismsBiology and Life SciencesProteinsCell BiologyDendritesNeuronal DendritesFasciola hepaticabiology.organism_classificationInvertebratesMolecular biologyFasciola030104 developmental biologyEpitope mappingCellular NeuroscienceAntigens HelminthAmniotesImmunologic Techniquesbiology.proteinlcsh:QCarrier ProteinsEpitope MappingNeuroscience
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Vitamin D and Its Analogues Decrease Amyloid-β (Aβ) Formation and Increase Aβ-Degradation

2017

Alzheimer’s disease (AD) is characterized by extracellular plaques in the brain, mainly consisting of amyloid-β (Aβ), as derived from sequential cleavage of the amyloid precursor protein. Epidemiological studies suggest a tight link between hypovitaminosis of the secosteroid vitamin D and AD. Besides decreased vitamin D level in AD patients, an effect of vitamin D on Aβ-homeostasis is discussed. However, the exact underlying mechanisms remain to be elucidated and nothing is known about the potential effect of vitamin D analogues. Here we systematically investigate the effect of vitamin D and therapeutically used analogues (maxacalcitol, calcipotriol, alfacalcidol, paricalcitol, doxercalcife…

0301 basic medicineParicalcitolPlaque Amyloidvitamin Damyloid precursor proteinlcsh:ChemistrySecosteroidMicechemistry.chemical_compound0302 clinical medicinevitamin D analoguesvitamin D; vitamin D analogues; amyloid precursor protein; amyloid-β; secretases; Aβ-degradationAmyloid precursor proteinlcsh:QH301-705.5CalcipotriolSpectroscopybiologysecretasesBrainAlfacalcidolVitaminsGeneral Medicine3. Good healthComputer Science ApplicationsFemalemedicine.drugmedicine.medical_specialtyAβ-degradationNicastrinamyloid-βArticleCatalysisInorganic Chemistry03 medical and health sciencesCell Line TumorInternal medicinemedicineVitamin D and neurologyAnimalsHumansPhysical and Theoretical ChemistryMolecular BiologyAmyloid beta-PeptidesOrganic ChemistryMice Inbred C57BL030104 developmental biologyEndocrinologylcsh:Biology (General)lcsh:QD1-999chemistryProteolysisbiology.proteinAmyloid Precursor Protein SecretasesAmyloid precursor protein secretase030217 neurology & neurosurgeryInternational Journal of Molecular Sciences
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Modified Vitrectomy Technique for Phakic Rhegmatogenous Retinal Detachment with Intermediate Break

2018

Purpose. To evaluate the effects of a modification of the traditional 25-gauge pars plana vitrectomy technique in the treatment of uncomplicated macula-on rhegmatogenous retinal detachment (RRD) with intermediate retinal break(s) and marked vitreous traction in the phakic eye. Methods. Prospective, noncomparative, and interventional case series. All consecutive phakic eyes with primary uncomplicated macula-on RRD with intermediate retinal break(s) and marked vitreous traction, with at least 1 year of postoperative follow-up, were enrolled. In all eyes, “localized 25-gauge vitrectomy” under air infusion with localized removal of the vitreous surrounding the retinal break(s), in association w…

0301 basic medicinePars planamedicine.medical_specialtygenetic structuresArticle Subjectmedicine.medical_treatmentScheimpflug principlevitrectomyVitrectomy03 medical and health scienceschemistry.chemical_compound0302 clinical medicinelcsh:OphthalmologyOphthalmologymedicineMacular edemabusiness.industryRetinal detachmentRetinalmedicine.diseaseeye diseasesOphthalmology030104 developmental biologymedicine.anatomical_structurechemistrylcsh:RE1-994030221 ophthalmology & optometryClinical StudyTamponadesense organsEpiretinal membranebusiness
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Extricating New Physics Scenarios at DUNE with High Energy Beams

2017

The proposed Deep Underground Neutrino Experiment (DUNE) utilizes a wide-band on-axis tunable muon-(anti)neutrino beam with a baseline of 1300 km to search for CP violation with high precision. Given the long baseline, DUNE is also sensitive to effects due to non-standard neutrino interactions (NSI) which can interfere with the standard 3-flavor oscillation paradigm. In this Letter, we exploit the tunability of the DUNE neutrino beam over a wide-range of energies and utilize a new theoretical metric to devise an experimental strategy for separating oscillation effects due to NSI from the standard 3-flavor oscillation scenario. Using our metric, we obtain an optimal combination of beam tunes…

0301 basic medicineParticle physicsPhysics::Instrumentation and DetectorsPhysics beyond the Standard ModelFOS: Physical scienceslcsh:MedicineArticleHigh Energy Physics - Experiment03 medical and health sciencesHigh Energy Physics - Experiment (hep-ex)0302 clinical medicineHigh Energy Physics - Phenomenology (hep-ph)Deep Underground Neutrino ExperimentNeutrino oscillationlcsh:SciencePhysicsMultidisciplinaryOscillationlcsh:RHigh Energy Physics::PhenomenologyHigh Energy Physics - Phenomenology030104 developmental biologyCP violationlcsh:QHigh Energy Physics::ExperimentNeutrino030217 neurology & neurosurgeryEnergy (signal processing)Beam (structure)
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Evaluation of Mucociliary Clearance by Three Dimension Micro-CT-SPECT in Guinea Pig: Role of Bitter Taste Agonists

2016

Different image techniques have been used to analyze mucociliary clearance (MCC) in humans, but current small animal MCC analysis using in vivo imaging has not been well defined. Bitter taste receptor (T2R) agonists increase ciliary beat frequency (CBF) and cause bronchodilation but their effects in vivo are not well understood. This work analyzes in vivo nasal and bronchial MCC in guinea pig animals using three dimension (3D) microCT-SPECT images and evaluates the effect of T2R agonists. Intranasal macroaggreggates of albumin-Technetium 99 metastable (MAA-Tc99m) and lung nebulized Tc99m albumin nanocolloids were used to analyze the effect of T2R agonists on nasal and bronchial MCC respecti…

0301 basic medicinePathologyPhysiologyRespiratory Systemlcsh:MedicineSingle Photon Emission Computed TomographyPharmacologyBiochemistryDiagnostic RadiologyReceptors G-Protein-CoupledMathematical and Statistical Techniques0302 clinical medicineBronchodilationMedicine and Health Scienceslcsh:ScienceTomographyLungMammalsMultidisciplinaryRadiology and ImagingDrugsfood and beveragesChloroquineAnimal Modelsrespiratory systemPulmonary ImagingBody Fluidsmedicine.anatomical_structureMucociliary ClearanceVertebratesPhysical SciencesAnatomyStatistics (Mathematics)Research ArticleAgonistmedicine.medical_specialtySingle Photon Emission Computed Tomography Computed TomographyImaging TechniquesMucociliary clearancemedicine.drug_classGuinea PigsBronchiNeuroimagingResearch and Analysis MethodsRodentsGuinea pigAntimalarials03 medical and health sciencesModel OrganismsDiagnostic MedicineIn vivoAlbuminsmedicineAnimalsHumansStatistical MethodsPharmacologyAnalysis of VarianceLungbusiness.industrylcsh:ROrganismsBiology and Life SciencesProteinsX-Ray MicrotomographyMucus030104 developmental biology030228 respiratory systemAmniotesNanoparticleslcsh:QNasal administrationbusinessMathematicsEx vivoNeuroscience
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