Search results for "Polymerase"

showing 10 items of 2127 documents

Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.

2016

Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around 75 kDa by western-blot analysis but several reports have revealed the existence of multiple MeCP2 immunoreactive bands above and below the level where MeCP2 is expected. MeCP2 immunoreactive bands have been interpreted in different ways. Some researchers suggest that multiple MeCP2 immunoreactive bands are unidentified proteins that cross-react with the MeCP2 antibody or degradation product of MeCP2, while others…

0301 basic medicineThreonineHeredityMethyl-CpG-Binding Protein 2Genetic LinkageMutantFluorescent Antibody TechniqueSocial Scienceslcsh:MedicinePC12 CellsBiochemistryEpitopeImmunoenzyme TechniquesCell FusionNeuroblastomaFluorescence MicroscopyAnimal CellsMedicine and Health SciencesPsychologyPost-Translational ModificationPhosphorylationAmino Acidslcsh:ScienceCells CulturedCross ReactivityNeuronsStainingMicroscopyMultidisciplinaryReverse Transcriptase Polymerase Chain ReactionOrganic CompoundsCell StainingLight MicroscopyTransfectionChemistryX-Linked TraitsSex LinkagePhysical SciencesCellular TypesResearch ArticleCell signalingCell Physiologycongenital hereditary and neonatal diseases and abnormalitiesBlotting WesternImmunologyRett syndromeBiologyReal-Time Polymerase Chain ReactionResearch and Analysis MethodsMECP203 medical and health sciencesNeurologiaAntigenHydroxyl Amino Acidsmental disordersmedicineRett SyndromeGeneticsAnimalsHumansRNA MessengerClinical GeneticsHEK 293 cellsOrganic Chemistrylcsh:RChemical CompoundsBiology and Life SciencesProteinsCell Biologymedicine.diseaseMolecular biologyRatsnervous system diseases030104 developmental biologyHEK293 CellsSpecimen Preparation and TreatmentCellular NeuroscienceMutationDevelopmental PsychologyMalaltieslcsh:QNeuroscience
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Stanozolol promotes osteogenic gene expression and apposition of bone mineral in vitro

2018

Abstract Stanozolol (ST) is a synthetic androgen with high anabolic potential. Although it is known that androgens play a positive role in bone metabolism, ST action on bone cells has not been sufficiently tested to support its clinical use for bone augmentation procedures. Objective: This study aimed to assess the effects of ST on osteogenic activity and gene expression in SaOS-2 cells. Material and Methods: SaOS-2 deposition of mineralizing matrix in response to increasing doses of ST (0-1000 nM) was evaluated through Alizarin Red S and Calcein Green staining techniques at 6, 12 and 24 days. Gene expression of runt-related transcription factor 2 (RUNX2), vitamin D receptor (VDR), osteopon…

0301 basic medicineTime FactorsBone matrixCore Binding Factor Alpha 1 SubunitReal-Time Polymerase Chain ReactionCalcitriol receptorBone remodelingCalcificationAndrology03 medical and health sciencesAnabolic AgentsCalcification PhysiologicOsteogenesisCell Line TumorBone cellHumansOsteonectinOsteopontinGeneral DentistryBone mineralAnalysis of VarianceOsteoblastsbiologyChemistryReproducibility of Resultslcsh:RK1-715RUNX2Apposition030104 developmental biologylcsh:DentistryLinear Modelsbiology.proteinAndrogensReceptors CalcitriolOriginal ArticleOsteopontinGene expressionOsteonectinStanozolol
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Iwr1 facilitates RNA polymerase II dynamics during transcription elongation.

2017

Iwr1 is an RNA polymerase II (RNPII) interacting protein that directs nuclear import of the enzyme which has been previously assembled in the cytoplasm. Here we present genetic and molecular evidence that links Iwr1 with transcription. Our results indicate that Iwr1 interacts with RNPII during elongation and is involved in the disassembly of the enzyme from chromatin. This function is especially important in resolving problems posed by damage-arrested RNPII, as shown by the sensitivity of iwr1 mutants to genotoxic drugs and the Iwr1's genetic interactions with RNPII degradation pathway mutants. Moreover, absence of Iwr1 causes genome instability that is enhanced by defects in the DNA repair…

0301 basic medicineTranscription factoriesCytoplasmSaccharomyces cerevisiae ProteinsDNA RepairTranscription GeneticBiophysicsActive Transport Cell NucleusRNA polymerase IISaccharomyces cerevisiaeBiochemistryGenomic Instability03 medical and health sciencesStructural BiologyGeneticsMolecular BiologyRNA polymerase II holoenzymePolymeraseCell NucleusbiologyGeneral transcription factorMolecular biologyChromatinCell biology030104 developmental biologybiology.proteinTranscription factor II FRNA Polymerase IITranscription factor II DCarrier ProteinsTranscription factor II BDNA DamageBiochimica et biophysica acta. Gene regulatory mechanisms
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Topoisomerase 1 inhibition suppresses inflammatory genes and protects from death by inflammation

2015

Unwinding DNA and unleasing inflammation Fighting infections often comes with collateral damage, which sometimes can be deadly. For instance, in septic shock, the overwhelming release of inflammatory mediators drives multi-organ failure. Rialdi et al. now report a potential new therapeutic target for controlling excessive inflammation: the DNA unwinding enzyme topoisomerase I (Top1) (see the Perspective by Pope and Medzhitov). Upon infection, Top1 specifically localizes to the promoters of pathogen-induced genes and promotes their transcription by helping to recruit RNA polymerase II. Pharmacological inhibition of Top1 in a therapeutic setting increased survival in several mouse models of s…

0301 basic medicineTranscription GeneticType IInbred C57BLmedicine.disease_causeSendai virusMicePiperidinesTranscription (biology)Influenza A virusInnate2.1 Biological and endogenous factorsPositive Transcriptional Elongation Factor BAetiologyMultidisciplinaryAzepinesStaphylococcal InfectionsEbolavirusInfectious DiseasesDNA Topoisomerases Type IInfluenza A virusEbolaHost-Pathogen InteractionsPneumonia & InfluenzaRNA Polymerase IImedicine.symptomInfectionTranscriptionStaphylococcus aureusGeneral Science & TechnologyInflammationBiologyVaccine Related03 medical and health sciencesImmune systemGeneticImmunityBiodefenseGeneticsmedicineAnimalsHumansGeneFlavonoidsInflammationInnate immune systemPreventionHEK 293 cellsImmunityInterferon-betaHemorrhagic Fever EbolaTriazolesImmunity InnateMice Inbred C57BLEmerging Infectious DiseasesGood Health and Well BeingHEK293 Cells030104 developmental biologyGene Expression RegulationImmunologyCancer researchHemorrhagic FeverCamptothecinTopoisomerase I InhibitorsTopotecanDNA TopoisomerasesScience
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Whole genome sequencing-based analysis of tuberculosis (TB) in migrants: rapid tools for cross-border surveillance and to distinguish between recent …

2019

14 páginas, 7 figuras

0301 basic medicineTuberculosisEpidemiology030106 microbiologyPopulationSingle-nucleotide polymorphismImmigrationMinisatellite RepeatsBiologyPolymerase Chain ReactionPolymorphism Single NucleotideMigrantslaw.inventionCross-border surveillance03 medical and health scienceslawVirologymedicineHumansTransmissionTuberculosiseducationGenotypingRetrospective StudiesWhole genome sequencingTransients and Migrantseducation.field_of_studySurveillanceMolecular epidemiologyPublic Health Environmental and Occupational HealthMycobacterium tuberculosisEmigration and Immigrationmedicine.diseaseImportationCountry of origin3. Good healthBacterial Typing Techniques030104 developmental biologyTransmission (mechanics)TBEvolutionary biologySpainMolecular epidemiologyWhole genome sequencingSentinel SurveillanceWGSMultilocus Sequence Typing
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Characterization of Bacillus thuringiensis isolates by their insecticidal activity and their production of Cry and Vip3 proteins.

2018

WOS: 000449027600099 PubMed ID: 30383811 Bacillus thuringiensis (Bt) constitutes the active ingredient of many successful bioinsecticides used in agriculture. In the present study, the genetic diversity and toxicity of Bt isolates was investigated by characterization of native isolates originating from soil, fig leaves and fruits from a Turkish collection. Among a total of 80 Bt isolates, 18 of them were found carrying a vip3 gene (in 23% of total), which were further selected. Insecticidal activity of spore/crystal mixtures and their supernatants showed that some of the Bt isolates had significantly more toxicity against some lepidopteran species than the HD1 reference strain. Five isolate…

0301 basic medicineTurkeyProtein ExpressionBacillus Thuringiensislcsh:MedicineArtificial Gene Amplification and ExtensionBacillusProtein SequencingMothsToxicologyPathology and Laboratory MedicinePolymerase Chain ReactionDatabase and Informatics MethodsBacillus thuringiensisMedicine and Health SciencesToxinslcsh:ScienceMaterialsSoil MicrobiologyMultidisciplinaryBacterial PathogensMedical MicrobiologyPhysical SciencesPathogensSequence AnalysisResearch ArticleSequence analysisBioinformatics030106 microbiologyBacterial ToxinsMaterials ScienceToxic AgentsSequence DatabasesBiologySpodopteraHelicoverpa armigeraResearch and Analysis MethodsCrystalsMicrobiologyMicrobiology03 medical and health sciencesBacterial ProteinsGene Expression and Vector TechniquesAnimalsPest Control BiologicalMolecular Biology TechniquesSequencing TechniquesGeneMolecular BiologyMicrobial PathogensPlant DiseasesGenetic diversityMolecular Biology Assays and Analysis TechniquesToxicityBacterialcsh:RfungiOrganismsBiology and Life Sciencesbiology.organism_classificationFicusSporePlant Leaves030104 developmental biologyBiological DatabasesCry1AcSusceptibilityFruitlcsh:QPloS one
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Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.

2016

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3' untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinucleotide repeats are unstable both in the somatic and germinal lines, making the age of onset, clinical presentation, and disease severity very variable. A molecular biomarker to stratify patients and to follow disease progression is, thus, an unmet medical need. Looking for a novel biomarker, and given that specific miRNAs have been found to be misregulated in DM1 heart and muscle tissues, we profiled the expression of 175 known serum miRNAs in …

0301 basic medicineUntranslated regionMalePathologyPhysiologylcsh:MedicineArtificial Gene Amplification and ExtensionDiseaseBioinformaticsBiochemistryPolymerase Chain Reaction0302 clinical medicineTrinucleotide RepeatsMedicine and Health SciencesMyotonic Dystrophylcsh:ScienceMusculoskeletal SystemMultidisciplinaryMusclesHematologyMiddle Aged3. Good healthBody FluidsNucleic acidsBlotting SouthernBloodGenetic DiseasesBiomarker (medicine)AnatomyResearch ArticleAdultmusculoskeletal diseasesmedicine.medical_specialtyBiologyResearch and Analysis MethodsMyotonic dystrophy03 medical and health sciencesExtraction techniquesmicroRNAmedicineGeneticsHumansNon-coding RNAMolecular Biology TechniquesGeneMolecular BiologyClinical GeneticsBiology and life sciencesGene Expression Profilinglcsh:Rmedicine.diseaseRNA extractionGene regulationGene expression profilingMicroRNAs030104 developmental biologySkeletal MusclesRNAlcsh:QGene expressionAge of onset030217 neurology & neurosurgeryBiomarkersPLoS ONE
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MicroRNAs miR-19, miR-340, miR-374 and miR-542 regulate MID1 protein expression.

2018

The MID1 ubiquitin ligase activates mTOR signaling and regulates mRNA translation. Misregulation of MID1 expression is associated with various diseases including midline malformation syndromes, cancer and neurodegenerative diseases. While this indicates that MID1 expression must be tightly regulated to prevent disease states specific mechanisms involved have not been identified. We examined miRNAs to determine mechanisms that regulate MID1 expression. MicroRNAs (miRNA) are small non-coding RNAs that recognize specific sequences in their target mRNAs. Upon binding, miRNAs typically downregulate expression of these targets. Here, we identified four miRNAs, miR-19, miR-340, miR-374 and miR-542…

0301 basic medicineUntranslated regionSmall interfering RNAPhysiologymetabolism [Microtubule Proteins]Alzheimer's DiseaseBiochemistryImmune PhysiologyMedicine and Health SciencesSmall interfering RNAsmetabolism [Transcription Factors]3' Untranslated RegionsImmune System ProteinsMultidisciplinarybiologyReverse Transcriptase Polymerase Chain ReactionMessenger RNAQRNuclear ProteinsNeurodegenerative DiseasesTranslation (biology)EnzymesUbiquitin ligaseCell biologyNucleic acidsNeurologyMicrotubule ProteinsMedicineOxidoreductasesLuciferasemetabolism [Nuclear Proteins]Research ArticleScienceUbiquitin-Protein LigasesImmunologyTransfectionResearch and Analysis MethodsReal-Time Polymerase Chain ReactionAntibodies03 medical and health sciencesMental Health and PsychiatrymicroRNAGeneticsHumansddc:610Non-coding RNAMolecular Biology TechniquesMolecular BiologyMessenger RNABiology and life sciencesThree prime untranslated regionHEK 293 cellsProteinsGene regulationphysiology [MicroRNAs]MicroRNAs030104 developmental biologyHEK293 CellsEnzymologybiology.proteinRNAProtein TranslationDementiaGene expressionTranscription FactorsMid1 protein human
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Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

2016

Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brai…

0301 basic medicineUntranslated regionTranscription GeneticCDKL5lcsh:MedicineGene ExpressionArtificial Gene Amplification and ExtensionPolymerase Chain ReactionBiochemistryExonMice0302 clinical medicineCoding regionProtein Isoformslcsh:ScienceGeneticsRegulation of gene expressionMultidisciplinaryMammalian GenomicsHigh-Throughput Nucleotide SequencingExonsGenomicsNucleic acidsRNA isolationPhenotypeSpasms InfantileResearch ArticleGene isoformBiologyProtein Serine-Threonine KinasesPolyadenylationResearch and Analysis MethodsBiomolecular isolation03 medical and health sciencesGeneticsAnimalsHumansAdultsAmino Acid SequenceMolecular Biology TechniquesGeneMolecular BiologyAlternative splicinglcsh:RGene MappingInfant NewbornBiology and Life SciencesReverse Transcriptase-Polymerase Chain ReactionAlternative Splicing030104 developmental biologyGene Expression RegulationRNA processingAge GroupsAnimal GenomicsMutationPeople and PlacesExon MappingRNAlcsh:QPopulation Groupings030217 neurology & neurosurgeryPloS one
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Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

2018

AbstractBackground:Many European laboratories offer molecular genetic analysis of theCFTRgene using a wide range of methods to identify mutations causative of cystic fibrosis (CF) and CFTR-related disorders (CFTR-RDs). Next-generation sequencing (NGS) strategies are widely used in diagnostic practice, and CE marking is now required for most in vitro diagnostic (IVD) tests in Europe. The aim of this multicenter study, which involved three European laboratories specialized in CF molecular analysis, was to evaluate the performance of Multiplicom’s CFTR MASTR Dx kit to obtain CE-IVD certification.Methods:A total of 164 samples, previously analyzed with well-established “reference” methods for t…

0301 basic medicineValidation studycongenital hereditary and neonatal diseases and abnormalitiesCertification[SDV]Life Sciences [q-bio]Clinical BiochemistrySequencing dataCFTR molecular diagnosiCystic Fibrosis Transmembrane Conductance RegulatorComputational biology030105 genetics & heredityBiologyCFTR molecular diagnosisDNA sequencingIn vitro diagnosticCftr genecystic fibrosis03 medical and health sciencesHumanscystic fibrosiCE-IVD certificationBiochemistry (medical)Reproducibility of ResultsIllumina miseqSequence Analysis DNAGeneral MedicineMolecular analysisEurope030104 developmental biologyMulticenter studycomparative sequencing analysicomparative sequencing analysisMutationnext-generation sequencingMultiplex Polymerase Chain Reaction
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