Search results for " Reporter"

showing 10 items of 118 documents

The role of CD40 and CD40L in bone mineral density and in osteoporosis risk: A genetic and functional study.

2015

Compelling data are revealing that the CD40/CD40L system is involved in bone metabolism. Furthermore, we have previously demonstrated that polymorphisms in both genes are associated with bone phenotypes. The aim of this study is to further characterize this association and to identify the causal functional mechanism. We conducted an association study of BMD with 15 SNPs in CD40/CD40L genes in a population of 779 women. In addition, we assessed the functionality of this association through the study of the allele-dependent expression of CD40 and CD40L in peripheral blood leukocytes (PBLs) and in human osteoblasts (OBs) obtained from bone explants by qPCR and by sequencing. When an allelic im…

0301 basic medicineBone densityTranscription GeneticPhysiologyEndocrinology Diabetes and MetabolismInheritance PatternsCohort Studies0302 clinical medicineBone DensityGenes ReporterRisk FactorsPromoter Regions GeneticGeneticseducation.field_of_studyhemic and immune systemsMethylationMiddle AgedPhenotypeDNA methylationFemalemusculoskeletal diseasesmedicine.medical_specialtyHistologyPopulationCD40 Ligand030209 endocrinology & metabolismSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideBone and Bones03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseAlleleCD40 AntigenseducationAllelesGenetic Association StudiesGenetic associationModels GeneticOsteoprotegerinPromoterDNA Methylation030104 developmental biologyEndocrinologySpainOsteoporosisCpG IslandsBone
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ESC-Derived BDNF-Overexpressing Neural Progenitors Differentially Promote Recovery in Huntington's Disease Models by Enhanced Striatal Differentiation

2016

Summary Huntington's disease (HD) is characterized by fatal motoric failures induced by loss of striatal medium spiny neurons. Neuronal cell death has been linked to impaired expression and axonal transport of the neurotrophin BDNF (brain-derived neurotrophic factor). By transplanting embryonic stem cell-derived neural progenitors overexpressing BDNF, we combined cell replacement and BDNF supply as a potential HD therapy approach. Transplantation of purified neural progenitors was analyzed in a quinolinic acid (QA) chemical and two genetic HD mouse models (R6/2 and N171-82Q) on the basis of distinct behavioral parameters, including CatWalk gait analysis. Explicit rescue of motor function by…

0301 basic medicineGene ExpressionBiochemistrychemistry.chemical_compoundMice0302 clinical medicineNeural Stem CellsNeurotrophic factorsGenes Reporterlcsh:QH301-705.5Neuronslcsh:R5-920NeurogenesisCell DifferentiationAnatomyembryonic stem cellsHuntington Diseaselcsh:Medicine (General)NeurogliaLocomotionNeurotrophinHuntington’s diseaseCell SurvivalBiologyMedium spiny neuronArticle03 medical and health sciencesHuntington's diseaseGeneticsmedicinestriatal differentiationAnimalsBrain-derived neurotrophic factorBrain-Derived Neurotrophic FactorCell Biologymedicine.diseaseCorpus StriatumTransplantationDisease Models Animal030104 developmental biologylcsh:Biology (General)chemistrynervous systembiology.proteinNeuroscience030217 neurology & neurosurgeryBiomarkersDevelopmental BiologyQuinolinic acidStem Cell TransplantationStem Cell Reports
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The Sea Urchin sns5 Chromatin Insulator Shapes the Chromatin Architecture of a Lentivirus Vector Integrated in the Mammalian Genome.

2016

Lentivirus vectors are presently the favorite vehicles for therapeutic gene transfer in hematopoietic cells. Nonetheless, these vectors integrate randomly throughout the genome, exhibiting variegation of transgene expression due to the spreading of heterochromatin into the vector sequences. Moreover, the cis-regulatory elements harbored by the vector could disturb the proper transcription of resident genes neighboring the integration site. The incorporation of chromatin insulators in flanking position to the transferred unit can alleviate both the above-mentioned dangerous effects, due to the insulator-specific barrier and enhancer-blocking activities. In this study, we report the valuable …

0301 basic medicineHeterochromatinTransgeneGenetic VectorsGreen Fluorescent ProteinsPharmaceutical ScienceGene ExpressionSettore BIO/11 - Biologia MolecolareBiochemistryGenomelentiviru03 medical and health sciencesMiceGeneticTranscription (biology)Genes ReporterTransduction GeneticCell Line TumorDrug DiscoveryGeneticsLeukocytesAnimalsHumansGATA1 Transcription FactorTransgenesEnhancerMolecular BiologyGenechromatin structureGeneticsGenomechromatin insulatorbiologyLentivirusbiology.organism_classificationgene therapyChromatinChromatinCell biology030104 developmental biologyHEK293 CellsSea UrchinsLentivirusMolecular MedicineBiological AssayInsulator Elementstransgene expressionHeLa CellsNucleic acid therapeutics
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Visualizing Leukocyte Rolling and Adhesion in Angiotensin II-Infused Mice: Techniques and Pitfalls

2018

Epifluorescence intravital video microscopy (IVM) of blood vessels is an established method to evaluate the activation of immune cells and their ability to role and adhere to the endothelial layer. Visualization of circulating cells by injection of fluorescent dyes or fluorophore-coupled antibodies is commonly used. Alternatively, fluorescent reporter mice can be used. Interactions of leukocytes, in particular lysozyme M+ (LysM+) monocytes, with the vessel wall play pivotal roles in promoting vascular dysfunction and arterial hypertension. We here present the technique to visualize and quantify leukocyte rolling and adhesion in carotid arteries in angiotensin II (AngII)-induced hypertension…

0301 basic medicineMaleEndotheliumendotheliumGeneral Chemical EngineeringImmunologyLeukocyte RollingMice TransgenicMonocytesGeneral Biochemistry Genetics and Molecular BiologyGreen fluorescent protein03 medical and health scienceschemistry.chemical_compoundMiceintravital microscopymedicineacridine orangeCell AdhesionLeukocytesAnimalsLeukocyte RollingCell adhesionGeneral Immunology and Microbiologycarotid arteryAngiotensin IIGeneral NeuroscienceAcridine orangeAngiotensin IICell biologyIssue 131030104 developmental biologymedicine.anatomical_structureCarotid ArterieschemistryHypertensioncardiovascular systemdouble-fluorescent Cre reporter mouseCell activationIntravital microscopyJournal of Visualized Experiments
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Drosophila SMN2minigene reporter model identifies moxifloxacin as a candidate therapy for SMA

2018

Spinal muscular atrophy is a rare and fatal neuromuscular disorder caused by the loss of alpha motor neurons. The affected individuals have mutated the ubiquitously expressed SMN1 gene resulting in the loss or reduction in the survival motor neuron (SMN) protein levels. However, an almost identical paralog exists in humans: SMN2. Pharmacological activation of SMN2 exon 7 inclusion by small molecules or modified antisense oligonucleotides is a valid approach to treat SMA. Here we describe an in vivo SMN2 minigene reporter system in Drosophila motor neurons that serves as a cost-effective, feasible, and stringent primary screening model for identifying chemicals capable of crossing the conser…

0301 basic medicineMoxifloxacinDrug Evaluation PreclinicalSMN1BiologyBiochemistryAnimals Genetically ModifiedMuscular Atrophy Spinal03 medical and health sciencesExon0302 clinical medicineGenes ReporterGeneticsmedicineAnimalsHumansMolecular BiologyExonsSpinal muscular atrophyMotor neuronSMA*medicine.diseasenervous system diseasesCell biologySurvival of Motor Neuron 2 ProteinAlternative SplicingDisease Models AnimalDrosophila melanogaster030104 developmental biologymedicine.anatomical_structureCajal bodyBlood-Brain BarrierRNA splicing030217 neurology & neurosurgeryBiotechnologyMinigeneThe FASEB Journal
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The RAB GTPase RAB18 modulates macroautophagy and proteostasis

2017

Macroautophagy is a conserved degradative pathway and its deterioration is linked to disturbances in cellular proteostasis and multiple diseases. Here, we show that the RAB GTPase RAB18 modulates autophagy in primary human fibroblasts. The knockdown of RAB18 results in a decreased autophagic activity, while its overexpression enhances the degradative pathway. Importantly, this function of RAB18 is dependent on RAB3GAP1 and RAB3GAP2, which might act as RAB GEFs and stimulate the activity of the RAB GTPase. Moreover, the knockdown of RAB18 deteriorates proteostasis and results in the intracellular accumulation of ubiquitinated degradation-prone proteins. Thus, the RAB GTPase RAB18 is a positi…

0301 basic medicineRecombinant Fusion Proteinsrab3 GTP-Binding ProteinsPrimary Cell CultureBiophysicsGTPaseBiochemistry03 medical and health sciencesUbiquitinGenes ReporterAutophagyHumansRNA Small InterferingMolecular BiologyGene knockdownbiologyProtein StabilityChemistryfungiAutophagyCell BiologyFibroblastsCell biologyLuminescent Proteins030104 developmental biologyProteostasisGene Expression Regulationrab GTP-Binding ProteinsProteolysisbiology.proteinCancer researchRabSignal transductionRAB18Signal TransductionBiochemical and Biophysical Research Communications
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An in vitro investigation on the cytotoxic and nuclear receptor transcriptional activity of the mycotoxins fumonisin B1 and beauvericin.

2016

Fumonisin B1 (FB1) and beauvericin (BEA) are secondary metabolites of filamentous fungi, which under appropriate temperature and humidity conditions may develop on various foods and feeds. To date few studies have been performed to evaluate the toxicological and endocrine disrupting effects of FB1 and BEA. The present study makes use of various in vitro bioassays including; oestrogen, androgen, progestagen and glucocorticoid reporter gene assays (RGAs) for the study of nuclear receptor transcriptional activity, the thiazolyl blue tetrazolium bromide (MTT) assay to monitor cytotoxicity and high content analysis (HCA) for the detection of pre-lethal toxicity in the RGA and Caco-2 human colon …

0301 basic medicineTranscription GeneticCell SurvivalBiologyAdenocarcinomaEndocrine DisruptorsToxicologyFumonisins03 medical and health scienceschemistry.chemical_compound0404 agricultural biotechnologyGlucocorticoid receptorReceptors GlucocorticoidGenes ReporterDepsipeptidesmedicineHumansCytotoxicityReceptorCell NucleusFumonisin B1Dose-Response Relationship Drug04 agricultural and veterinary sciencesGeneral Medicine040401 food scienceBeauvericin030104 developmental biologychemistryNuclear receptorBiochemistryReceptors AndrogenToxicityColonic NeoplasmsCaco-2 CellsReceptors ProgesteroneGlucocorticoidmedicine.drugToxicology letters
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Genetic proof for the transient nature of the Th17 phenotype

2010

IL-17-producing CD4(+) T cells (Th17) have been classified as a new T helper cell subset. Using an IL-17 fate mapping mouse strain, which genetically fixes the memory of IL-17 expression, we demonstrate that IL-17A/F-expressing T helper cells generated either in vitro or in vivo are not a stable T-cell subset. Upon adoptive transfer of IL-17F-reporter-positive Th17 cells to RAG-deficient or WT animals, encephalitogenic Th17 cells partially lose IL-17 expression and upregulate IFN-γ. Additionally, we show that Th1 cells can convert in vivo to IL-17A/IFN-γ-coexpressing cells in the mesenteric lymph nodes (mLN). Our data classify IL-17A and IL-17F as cytokines produced transiently in response …

Adoptive cell transferEncephalomyelitis Autoimmune ExperimentalGenes RAG-1TransgeneImmunologyReceptors Antigen T-CellMice TransgenicBiologyLymphocyte ActivationInterferon-gammaMiceInterleukin 21AntigenGenes ReporterT-Lymphocyte SubsetsIn vivomedicineAnimalsImmunology and AllergyCytotoxic T cellMesenteric lymph nodesMice KnockoutIntegrasesCell DifferentiationT helper cellTh1 CellsAdoptive TransferCell biologyMice Inbred C57BLmedicine.anatomical_structureGene Expression RegulationImmunologyTh17 CellsEuropean Journal of Immunology
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MicroRNA hsa-miR-4717-5p regulates RGS2 and may be a risk factor for anxiety-related traits

2015

Regulator of G-protein Signaling 2 (RGS2) is a key regulator of G-protein-coupled signaling pathways involved in fear and anxiety. Data from rodent models and genetic analysis of anxiety-related traits and disorders in humans suggest down-regulation of RGS2 expression to be a risk factor for anxiety. Here we investigated, whether genetic variation in microRNAs mediating posttranscriptional down-regulation of RGS2 may be a risk factor for anxiety as well. 75 microRNAs predicted to regulate RGS2 were identified by four bioinformatic algorithms and validated experimentally by luciferase reporter gene assays. Specificity was confirmed for six microRNAs (hsa-miR-1271-5p, hsa-miR-22-3p, hsa-miR-3…

AdultMaleCandidate geneSingle-nucleotide polymorphismMIR4717ComorbidityBiologyBioinformaticsPolymorphism Single NucleotideCellular and Molecular NeuroscienceGenes ReporterRisk FactorsmedicineHumansIKBKEGenetic Predisposition to DiseaseAllelepanic disorderLuciferases3' Untranslated RegionsAgoraphobiaAllelesGenetic Association StudiesGenetics (clinical)miRNAGeneticsPanic disorderassociationComputational BiologyReproducibility of Resultsmedicine.diseaseAnxiety DisordersMicroRNAsPsychiatry and Mental healthGene Expression RegulationCase-Control StudiesLinear ModelsAnxiety sensitivityAnxietyFemalemedicine.symptomgene regulationRGS ProteinsAgoraphobiaAmerican Journal of Medical Genetics Part B-neuropsychiatric Genetics
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Enhancer trap infidelity in Drosophila optomotor-blind

2013

Reporter gene activity in enhancer trap lines is often implicitly assumed to mirror quite faithfully the endogenous expression of the "trapped" gene, even though there are numerous examples of enhancer trap infidelity. optomotor-blind (omb) is a 160 kb gene in which 16 independent P-element enhancer trap insertions of three different types have been mapped in a range of more than 60 kb. We have determined the expression pattern of these elements in wing, eye-antennal and leg imaginal discs as well as in the pupal tergites. We noted that one pGawB insertion (omb (P4) ) selectively failed to report parts of the omb pattern even though the missing pattern elements were apparent in all other 15…

Arthropod AntennaeNerve Tissue ProteinsEyeGenes ReporterEnhancer trapAnimalsDrosophila ProteinsWings AnimalDrosophila (subgenus)EnhancerPromoter Regions GeneticGeneGeneticsReporter genebiologyPupaChromosome MappingPromoterExtremitiesbiology.organism_classificationImaginal discMutagenesis InsertionalEnhancer Elements GeneticImaginal DiscsInsect ScienceDrosophilaT-Box Domain ProteinsDrosophila ProteinResearch Paper
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