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showing 10 items of 4449 documents

Single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system.

2018

Contrary to the mainstream blood group systems, P1PK continues to puzzle and generate controversies over its molecular background. The P1PK system comprises three glycosphingolipid antigens: Pk, P1 and NOR, all synthesised by a glycosyltransferase called Gb3/CD77 synthase. The Pk antigen is present in most individuals, whereas P1 frequency is lesser and varies regionally, thus underlying two common phenotypes: P1, if the P1 antigen is present, and P2, when P1 is absent. Null and NOR phenotypes are extremely rare. To date, several single nucleotide polymorphisms (SNPs) have been proposed to predict the P1/P2 status, but it has not been clear how important they are in general and in relation …

0301 basic medicinePhysiologyCell Membraneslcsh:MedicineArtificial Gene Amplification and ExtensionBiochemistryPolymerase Chain Reactionchemistry.chemical_compoundSpectrum Analysis TechniquesTranscription (biology)GenotypeMedicine and Health Scienceslcsh:ScienceGeneticsMultidisciplinaryGlobosidesHomozygoteGlycosphingolipidFlow CytometryGalactosyltransferasesPhenotypeLipidsBody FluidsElectrophysiologyCholesterolBloodPhenotypeSpectrophotometryBlood Group AntigensCytophotometryAnatomyCellular Structures and OrganellesResearch ArticleGenotypeSingle-nucleotide polymorphismBiologyResearch and Analysis MethodsReal-Time Polymerase Chain ReactionMembrane PotentialPolymorphism Single NucleotideAntibodiesGlycosphingolipids03 medical and health sciencesAntigenGlycosyltransferaseHumansMolecular Biology TechniquesMolecular BiologyBlood typeSphingolipidslcsh:RBiology and Life SciencesCell Biology030104 developmental biologychemistrybiology.proteinlcsh:QBlood GroupsPLoS ONE
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Molecular detection of Borrelia burgdorferi sensu lato – An analytical comparison of real-time PCR protocols from five different Scandinavian laborat…

2017

Introduction Lyme borreliosis (LB) is the most common tick transmitted disease in Europe. The diagnosis of LB today is based on the patient A s medical history, clinical presentation and laboratory findings. The laboratory diagnostics are mainly based on antibody detection, but in certain conditions molecular detection by polymerase chain reaction (PCR) may serve as a complement. Aim The purpose of this study was to evaluate the analytical sensitivity, analytical specificity and concordance of eight different real-time PCR methods at five laboratories in Sweden, Norway and Denmark. Method Each participating laboratory was asked to analyse three different sets of samples (reference panels; a…

0301 basic medicinePhysiologyDenmarklcsh:MedicineArtificial Gene Amplification and ExtensionPathology and Laboratory MedicinePolymerase Chain ReactionBiochemistryNervous SystemRNA Ribosomal 16SMedicine and Health Scienceslcsh:ScienceDNA extractionCerebrospinal FluidLyme DiseaseMultidisciplinarySpirochetesbiologyNorwayLyme borreliosisRelapsing FeverBacterial PathogensBody FluidsNucleic acidsReal-time polymerase chain reactionRibosomal RNAMedical MicrobiologyPathogensAnatomyWater MicrobiologyTransmitted diseaseResearch ArticleCell biologyCellular structures and organellesBorrelia Burgdorferi030106 microbiologyTickReal-Time Polymerase Chain ReactionResearch and Analysis MethodsSensitivity and SpecificityMicrobiologyMicrobiology in the medical areaMicrobiology03 medical and health sciencesExtraction techniquesSensuBorreliaMikrobiologi inom det medicinska områdetMedical historyBorrelia burgdorferiMolecular Biology TechniquesNon-coding RNAMicrobial PathogensMolecular BiologySwedenBacteriaBorrelialcsh:ROrganismsBiology and Life Sciencesbacterial infections and mycosesbiology.organism_classificationRNA extraction030104 developmental biologyRNAlcsh:QRibosomesPLOS ONE
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Viral fitness correlates with the magnitude and direction of the perturbation induced in the host’s transcriptome: the tobacco etch Potyvirus—tobacco…

2018

Determining the fitness of viral genotypes has become a standard practice in virology as it is essential to evaluate their evolutionary potential. Darwinian fitness, defined as the advantage of a given genotype with respect to a reference one, is a complex property that captures, in a single figure, differences in performance at every stage of viral infection. To what extent does viral fitness result from specific molecular interactions with host factors and regulatory networks during infection? Can we identify host genes in functional classes whose expression depends on viral fitness? Here, we compared the transcriptomes of tobacco plants infected with seven genotypes of tobacco etch potyv…

0301 basic medicinePotyvirusViral fitnessGene ExpressionBiologyReal-Time Polymerase Chain ReactionHost-virus interactionModels BiologicalTranscriptome03 medical and health sciencesDarwinian FitnessTobaccoGene expressionGeneticsTranscriptomicsGeneMolecular BiologyDiscoveriesEcology Evolution Behavior and SystematicsPlant DiseasesNicotiana tabacum PotyvirusGeneticsNicotiana tabacumPotyvirusresponse to infection Systems biologyPotyvirusRNAMicroarray Analysisbiology.organism_classificationResponse to infectionVirus evolutionRNA silencing030104 developmental biologyViral evolutionHost-Pathogen InteractionsTEVGenetic FitnessTranscriptomeSystems biologyHost–virus interaction
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Milker's nodule: an occupational infection and threat to the immunocompromised

2017

Milker's nodule virus, also called paravaccinia virus is a DNA virus of the parapoxvirus genus transmitted from infected cows to humans. It results from contact with cattle, cattle byproducts, or fomites. Classified as an occupational disorder, those at risk of exposure include farmers, butchers, and agricultural tourists. The viral infection begins 5-15 days after inoculation as an erythematous-purple, round nodule with a clear depressed center, and a surrounding erythematous ring. While familiar to those in farming communities, the presence of the nodule may be concerning to others, particularly the immunosuppressed. Milker's nodules are self-limited in immunocompetent individuals and hea…

0301 basic medicinePoxviridae InfectionsDermatologyDiseaseAntiviral AgentsParavaccinia virusVirusDiagnosis DifferentialImmunocompromised Host030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineIdoxuridineZoonosesAnimalsHumansMedicineErythema multiformeImiquimodbiologybusiness.industryNodule (medicine)medicine.diseasebiology.organism_classificationVirologyOccupational Diseases030104 developmental biologyInfectious DiseasesImmunologyAminoquinolinesParapoxvirusMilker's noduleImmunocompetencemedicine.symptombusinessImmunocompetenceJournal of the European Academy of Dermatology and Venereology
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Transcriptomic study of the toxic mechanism triggered by beauvericin in Jurkat cells

2018

Beauvericin (BEA), an ionophoric cyclic hexadepsipeptide mycotoxin, is able to increase oxidative stress by altering membrane ion permeability and uncoupling oxidative phosphorylation. A toxicogenomic study was performed to investigate gene expression changes triggered by BEA exposure (1.5, 3 and 5 mu M; 24 h) in Jurkat cells through RNA-sequencing and differential gene expression analysis. Perturbed gene expression was observed in a concentration dependent manner, with 43 differentially expressed genes (DEGs) overlapped in the three studied concentrations. Gene ontology (GO) analysis showed several biological processes related to electron transport chain, oxidative phosphorylation, and cel…

0301 basic medicineProgrammed cell deathCYTOCHROME-C RELEASEBCL-2 FAMILYCell Membrane PermeabilityRespiratory chainCell Culture TechniquesCASPASE-3 ACTIVATIONApoptosisOxidative phosphorylationCHO-K1 CELLSToxicologyJurkat cellsOxidative PhosphorylationElectron Transport03 medical and health sciencesJurkat CellsFUSARIUM MYCOTOXINSImmunotoxicologyDepsipeptidesHumansREAL-TIME PCROXIDATIVE STRESSTranscriptomicsCaspaseINDUCED APOPTOSISLEUKEMIA-CELLS030102 biochemistry & molecular biologybiologyDose-Response Relationship DrugChemistryJurkatGene Expression ProfilingBcl-2 familyDEATHGeneral MedicineBeauvericinToxicogenomicsCell biologyGene expression profiling030104 developmental biologyMitochondrial respiratory chainGene Ontologybiology.proteinRNA-seqTranscriptomeToxicology Letters
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JAK2 mediates lung fibrosis, pulmonary vascular remodelling and hypertension in idiopathic pulmonary fibrosis: an experimental study

2018

BackgroundPulmonary hypertension (PH) is a common disorder in patients with idiopathic pulmonary fibrosis (IPF) and portends a poor prognosis. Recent studies using vasodilators approved for PH have failed in improving IPF mainly due to ventilation (V)/perfusion (Q) mismatching and oxygen desaturation. Janus kinase type 2 (JAK2) is a non-receptor tyrosine kinase activated by a broad spectrum of profibrotic and vasoactive mediators, but its role in PH associated to PH is unknown.ObjectiveThe study of JAK2 as potential target to treat PH in IPF.Methods and resultsJAK2 expression was increased in pulmonary arteries (PAs) from IPF (n=10; 1.93-fold; P=0.0011) and IPF+PH (n=9; 2.65-fold; P<0.00…

0301 basic medicinePulmonary and Respiratory Medicinemedicine.medical_specialtyHypertension PulmonaryBlotting WesternMyocytes Smooth MuscleFluorescent Antibody TechniqueVasodilationVascular RemodelingReal-Time Polymerase Chain ReactionVascular remodelling in the embryo03 medical and health sciencesIdiopathic pulmonary fibrosisTransforming Growth Factor betaRight ventricular hypertrophyInternal medicinepulmonary hypertensionAnimalsHumansMedicineRNA Small InterferingRats WistarCells CulturedCell ProliferationBKCaJanus kinase 2biologybusiness.industryEndothelial CellsJanus Kinase 2idiopathic pulmonary fibrosismedicine.diseaseImmunohistochemistryPulmonary hypertensionIdiopathic Pulmonary FibrosisTriterpenesRatsPhenotype030104 developmental biologyJAK2biology.proteinCardiologyAnimal studiesJanus kinasebusinessSignal TransductionPulmonary artery smooth muscle cells Pulmonary artery endothelial cells.Thorax
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Cabozantinib targets bone microenvironment modulating human osteoclast and osteoblast functions

2016

Cabozantinib, a c-MET and vascular endothelial growth factor receptor 2 inhibitor, demonstrated to prolong progression free survival and improve skeletal disease-related endpoints in castration-resistant prostate cancer and in metastatic renal carcinoma. Our purpose is to investigate the direct effect of cabozantinib on bone microenvironment using a total human model of primary osteoclasts and osteoblasts.Osteoclasts were differentiated from monocytes isolated from healthy donors; osteoblasts were derived from human mesenchymal stem cells obtained from bone fragments of orthopedic surgery patients. Osteoclast activity was evaluated by tartrate resistant acid phosphatase (TRAP) staining and …

0301 basic medicinePyridines -- pharmacologyPyridinesPyridineImmunoenzyme TechniqueOsteoclastsApoptosisRANK Ligand -- genetics -- metabolismImmunoenzyme Techniqueschemistry.chemical_compoundBone Resorption -- drug therapy -- metabolism -- pathology0302 clinical medicineOsteogenesisCathepsin KMedicineAnilidesAnilides -- pharmacologyOsteoprotegerin -- genetics -- metabolismOsteoclasts -- cytology -- drug effects -- physiologyHuman primary cellCells CulturedTartrate-resistant acid phosphataseReceptor Activator of Nuclear Factor-kappa B -- genetics -- metabolismbiologyProto-Oncogene Proteins c-met -- genetics -- metabolismReceptor Activator of Nuclear Factor-kappa BReverse Transcriptase Polymerase Chain ReactionOsteoblastOsteogenesiOsteoblastCell DifferentiationSciences bio-médicales et agricolesProto-Oncogene Proteins c-metOsteoblasts -- cytology -- drug effects -- physiologymedicine.anatomical_structureCell Differentiation -- drug effectsOncologyRANKL030220 oncology & carcinogenesishuman primary cellsOsteoclastosteoprotegerin (OPG)bone microenvironmentHumanResearch Papermusculoskeletal diseasesmedicine.medical_specialtyCabozantinibBlotting WesternOsteogenesis -- drug effects -- physiologyReal-Time Polymerase Chain ReactionBone resorption03 medical and health sciencesOsteoprotegerinOsteoclastcabozantinibInternal medicineHumansRNA MessengerBone ResorptionCell ProliferationOsteoblastsbusiness.industryRANK LigandAnilideOsteoprotegerinApoptosiBone microenvironment; Cabozantinib; Human primary cells; Osteoprotegerin (OPG); Receptor activator of nuclear factor-kb ligand (RANKL); Anilides; Apoptosis; Blotting Western; Bone Resorption; Cell Differentiation; Cell Proliferation; Cells Cultured; Humans; Immunoenzyme Techniques; Osteoblasts; Osteoclasts; Osteogenesis; Osteoprotegerin; Proto-Oncogene Proteins c-met; Pyridines; RANK Ligand; RNA Messenger; Real-Time Polymerase Chain Reaction; Receptor Activator of Nuclear Factor-kappa B; Reverse Transcriptase Polymerase Chain Reaction; Oncology030104 developmental biologyEndocrinologychemistrybiology.proteinbusinessRNA Messenger -- geneticsreceptor activator of nuclear factor-kb ligand (RANKL)
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Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice

2019

Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function. Insights gained from BBS mouse models are applicable to other syndromic and nonsyndromic retinal diseases. This progressive characterization of the visual phenotype in three BBS mouse models sets a baseline for testing therapeutic interventions. Methods Longitudinal acquisition of electroretinograms, optical coherence tomography scans, and visual acuity using the optomotor reflex in Bbs6/Mkks, Bbs8/Ttc8, and Bbs5 knockout mice. Gene and protein expression analysis in vivo and in vitro. Results Complete loss of BBS5, BBS6, or BBS8 leads to different rates of reti…

0301 basic medicineRetinal degenerationAgingBBSomeGenotyping Techniquesgenetic structuresBlotting WesternGroup II ChaperoninsBBS5030105 genetics & heredityBiologyReal-Time Polymerase Chain ReactionRetinaMKKSMice03 medical and health sciencesBardet–Biedl syndromeElectroretinographymedicineAnimalsBardet-Biedl SyndromeVision OcularMice Knockoutmedicine.diagnostic_testRetinal DegenerationPhosphate-Binding Proteinsmedicine.diseaseImmunohistochemistryMice Mutant StrainsCytoskeletal ProteinsDisease Models AnimalCiliopathyPhenotype030104 developmental biologyKnockout mouseCarrier ProteinsMicrotubule-Associated ProteinsNeuroscienceTomography Optical CoherenceSignal TransductionElectroretinographyInvestigative Opthalmology & Visual Science
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Quantitative characterization of translational riboregulators using an in vitro transcription–translation system

2018

Riboregulators are short RNA sequences that, upon binding to a ligand, change their secondary structure and influence the expression rate of a downstream gene. They constitute an attractive alternative to transcription factors for building synthetic gene regulatory networks because they can be engineered de novo. However, riboregulators are generally designed in silico and tested in vivo, which provides little quantitative information about their performances, thus hindering the improvement of design algorithms. Here we show that a cell-free transcription-translation (TX-TL) system provides valuable information about the performances of in silico designed riboregulators. We first propose a …

0301 basic medicineRiboregulator[SDV.BIO]Life Sciences [q-bio]/BiotechnologyTranscription GeneticIn silicoBiomedical EngineeringComputational biologyReal-Time Polymerase Chain ReactionRibosomeBiochemistry Genetics and Molecular Biology (miscellaneous)FluorescenceSynthetic biologyViral Proteins03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRNA Transfer[CHIM]Chemical SciencesQH426GeneTranscription factor030304 developmental biology0303 health sciencesCell-free protein synthesisCell-Free SystemModels GeneticChemistryActivator (genetics)030302 biochemistry & molecular biologyRNADNADNA-Directed RNA PolymerasesGeneral MedicineCell-free protein synthesisMolecular machine3. Good health030104 developmental biologyGene Expression RegulationGenetic TechniquesProtein BiosynthesisRNA translational riboregulatorNucleic Acid ConformationRNAIn vitro synthetic biology5' Untranslated Regions030217 neurology & neurosurgeryDNA
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Assessing the burden of viral co-infections in acute gastroenteritis in children: An eleven-year-long investigation.

2020

Abstract Background Acute gastroenteritis is an important cause of childhood morbidity and mortality worldwide. A number of pathogens are responsible for human acute gastroenteritis. The recent introduction of syndromic assays for the diagnosis of enteric infections, including a wide panel of enteric pathogens, has unveiled the frequency of mixed infections. This study was carried out to assess the burden of viral co-infections and the genetic diversity of the viruses detected in children hospitalized with acute gastroenteritis in Italy. Methods A total of 4161 stool samples collected from diarrheic children over 11 years, from January 2008 to December 2018, were investigated for the presen…

0301 basic medicineRotavirusSettore MED/07 - Microbiologia E Microbiologia Clinicamedicine.medical_specialtyviruses030106 microbiologymedicine.disease_causeVirusAstrovirus03 medical and health sciencesFecesfluids and secretions0302 clinical medicineVirologyRotavirusEpidemiologyGenotypeMedicineHumans030212 general & internal medicineChildFecesbiologybusiness.industryCoinfectionNorovirusvirus diseasesInfantbiology.organism_classificationVirologyGastroenteritisCo-infection Ct values Enteric viruses Genotypes Real-time PCR.Infectious DiseasesItalyNorovirusbusinessViral loadJournal of clinical virology : the official publication of the Pan American Society for Clinical Virology
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