Search results for "muta"

showing 10 items of 6895 documents

Identification of an optimized 2′-O-methylated trinucleotide RNA motif inhibiting Toll-like receptors 7 and 8

2017

Bacterial RNA serves an important function as activator of the innate immune system. In humans bacterial RNA is sensed by the endosomal receptors TLR7 and TLR8. Differences in the posttranscriptional modification profile of prokaryotic when compared with eukaryotic RNA allow innate immune cells to discriminate between “host” and “foreign” RNA. Ribose 2′-O-methylation is of particular importance and has been reported to antagonize TLR7/8 activation. Yet, the exact sequence context in which 2′-O-methylation has to occur to mediate its inhibitory activity remains largely undefined. On the basis of a naturally occurring 2′-O-methylated RNA sequence, we performed a systematic permutation of the …

0301 basic medicineCytidineBiologyBioinformaticsMethylationInhibitory Concentration 5003 medical and health scienceschemistry.chemical_compound0302 clinical medicineRNA TransferReportRiboseHumansNucleotideNucleotide MotifsMolecular Biologychemistry.chemical_classificationInnate immune systemNucleotides2'-O-methylationRNATLR7TLR8Cell biologyRNA Bacterial030104 developmental biologyToll-Like Receptor 7chemistryToll-Like Receptor 8MutationLeukocytes MononuclearNucleic acidRNA030215 immunologyRNA
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Oxidative damage and disturbance of antioxidant capacity by zearalenone and its metabolites in human cells.

2017

Mycotoxin contamination of foods and feeds represent a serious problem worldwide. Zearalenone (ZEA) is a secondary metabolite produced by Fusarium species. This study explores oxidative cellular damage and intracellular defense mechanisms (enzymatic and non-enzymatic) in the hepatoma cell line HepG2 after exposure to ZEA and its metabolites (α-zearalenol, α-ZOL; β-zearalenol, β-ZOL). Our results demonstrated that HepG2 cells exposed to ZEA, α-ZOL or β-ZOL at different concentrations (0, 6.25, 12.5 and 25μM) showed: (i) elevated ROS levels (1.5- to 7-fold) based on the formation of the highly fluorescent 2',7'-dichlorofluorescein (DCF), (ii) increased DNA damage measured by the comet assay (…

0301 basic medicineDNA damage010501 environmental sciencesSecondary metaboliteToxicologymedicine.disease_cause01 natural sciencesAntioxidantsSuperoxide dismutase03 medical and health scienceschemistry.chemical_compoundDichlorofluoresceinmedicineHumans0105 earth and related environmental sciencesbiologySuperoxide Dismutasefood and beveragesGeneral MedicineGlutathioneHep G2 CellsMycotoxinsCatalaseGlutathioneComet assayOxidative Stress030104 developmental biologychemistryBiochemistryCatalasebiology.proteinta1181ZearalenoneComet AssayReactive Oxygen SpeciesOxidative stressmedicine.drugDNA DamageToxicology in vitro : an international journal published in association with BIBRA
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Class I histone deacetylases regulate p53/NF-κB crosstalk in cancer cells

2016

The transcription factors NF-κB and p53 as well as their crosstalk determine the fate of tumor cells upon therapeutic interventions. Replicative stress and cytokines promote signaling cascades that lead to the co-regulation of p53 and NF-κB. Consequently, nuclear p53/NF-κB signaling complexes activate NF-κB-dependent survival genes. The 18 histone deacetylases (HDACs) are epigenetic modulators that fall into four classes (I-IV). Inhibitors of histone deacetylases (HDACi) become increasingly appreciated as anti-cancer agents. Based on their effects on p53 and NF-κB, we addressed whether clinically relevant HDACi affect the NF-κB/p53 crosstalk. The chemotherapeutics hydroxyurea, etoposide, an…

0301 basic medicineDNA damageApoptosisModels BiologicalHistone Deacetylases03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCell Line TumorNeoplasmsHumansHydroxyureaEpigeneticsTranscription factorCellular SenescenceEtoposidebiologyNF-kappa BNF-κBCell Cycle CheckpointsDNA NeoplasmCell BiologyHDAC6Gene Expression Regulation NeoplasticHistone Deacetylase InhibitorsCrosstalk (biology)030104 developmental biologyHistonechemistry030220 oncology & carcinogenesisMutationCancer cellbiology.proteinCancer researchTumor Suppressor Protein p53VidarabineDNA DamageSignal TransductionCellular Signalling
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In Vitro Study of the Cytotoxic, Cytostatic, and Antigenotoxic Profile of Hemidesmus indicus (L.) R.Br. (Apocynaceae) Crude Drug Extract on T Lymphob…

2018

In traditional Indian medicine, the crude drug Hemidesmus indicus root—commonly known as Indian sarsaparilla—is used alone or in poly-herbal preparations for the treatment of a wide range of diseases. The present study focuses on the cancer chemopreventive and therapeutic potential of H. indicus extracts on an acute lymphoblastic leukemia cell line (CCRF-CEM). With this aim in mind, we subjected H. indicus roots to two subsequent extractions (hydro-alcoholic extraction and soxhlet extraction). As DNA damage is an important prerequisite for the induction of mutations/cancer by genotoxic carcinogens, cancer chemoprevention may be achieved by preventing genotoxicity. Through an integrated …

0301 basic medicineDNA damageCell SurvivalHealth Toxicology and MutagenesisPhytochemicalsHemidesmus indicus; cancer cells; apoptosis; cell cycle; genotoxicity; antigenotoxicityantigenotoxicitylcsh:MedicineCancer cellCrude drugPharmacologymedicine.disease_causeToxicologyProtective AgentsPlant RootsArticleNOHemidesmus indicus03 medical and health sciences0302 clinical medicineCell Line TumormedicineHumansCarcinogenHemidesmus indicusHemidesmusbiologyChemistryPlant Extractslcsh:RgenotoxicityapoptosisApoptosiHemidesmus indicuCell cyclePrecursor Cell Lymphoblastic Leukemia-Lymphomabiology.organism_classificationAntineoplastic Agents Phytogenic030104 developmental biologyApoptosis030220 oncology & carcinogenesisCancer cellcancer cellscell cycleGenotoxicity<i>Hemidesmus indicus</i>; cancer cells; apoptosis; cell cycle; genotoxicity; antigenotoxicityDNA DamageToxins
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Genotoxicity testing: Comparison of the γH2AX focus assay with the alkaline and neutral comet assays

2017

Genotoxicity testing relies on the quantitative measurement of adverse effects, such as chromosome aberrations, micronuclei, and mutations, resulting from primary DNA damage. Ideally, assays will detect DNA damage and cellular responses with high sensitivity, reliability, and throughput. Several novel genotoxicity assays may fulfill these requirements, including the comet assay and the more recently developed γH2AX assay. Although they are thought to be specific for genotoxicants, a systematic comparison of the assays has not yet been undertaken. In the present study, we compare the γH2AX focus assay with the alkaline and neutral versions of the comet assay, as to their sensitivities and li…

0301 basic medicineDNA damageHealth Toxicology and MutagenesisCometCHO CellsBiologymedicine.disease_causeSensitivity and SpecificityHistones03 medical and health scienceschemistry.chemical_compoundCricetulus0302 clinical medicineGeneticsmedicineAnimalsDose-Response Relationship DrugMutagenicity TestsComet tailMitomycin CMolecular biologyMethyl methanesulfonateComet assay030104 developmental biologychemistry030220 oncology & carcinogenesisMicronucleus testComet AssayGenotoxicityDNA DamageMutagensMutation Research/Genetic Toxicology and Environmental Mutagenesis
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High-Performance Liquid Chromatography/Electrospray Ionization Tandem Mass Spectrometry (HPLC-ESI-MSn) Analysis and Bioactivity Useful for Prevention…

2019

This study aimed at evaluating and comparing the chemical profile obtained by HPLC-ESI-MSn analysis, the inhibitory activity of enzymes linked to obesity (α-amylase, α-glucosidase, and lipase) and the antioxidant properties (DPPH, ABTS, FRAP, and β-carotene bleaching tests) of ethanol extracts of bulbs (BE) and aerial parts (APE) from Allium commutatum Guss. (known in Italy as “aglio delle isole”). The chemical profile revealed alliin as the main abundant compound with values of 31.5 and 38.8 mg/g extract for BE and APE, respectively. APE is rich also in quercetin (38.5 mg/g extract) and luteolin (31.8 mg/g extract). Bulbs extract exhibited the highest activity as inhibitor of enzymes linke…

0301 basic medicineDPPHAllium commutatumElectrospray ionizationBulbsAlliinHigh-performance liquid chromatographyAntioxidantsAllium03 medical and health scienceschemistry.chemical_compound0404 agricultural biotechnologyAntioxidant activityTandem Mass SpectrometryCarbohydrate-hydrolysing enzymes inhibitionEnzyme InhibitorsGarlicChromatography High Pressure Liquid030109 nutrition & dieteticsABTSChromatographybiologyPlant Extracts04 agricultural and veterinary sciencesbiology.organism_classification040401 food scienceLipase inhibitionItalychemistryChemistry (miscellaneous)AlliumAerial parts; Antioxidant activity; Bulbs; Carbohydrate-hydrolysing enzymes inhibition; Garlic; Lipase inhibitionAerial partsQuercetinFood SciencePlant Foods for Human Nutrition
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Tetrabromobisphenol A (TBBPA)-stimulated reactive oxygen species (ROS) production in cell-free model using the 2′,7′-dichlorodihydrofluorescein diace…

2016

t Tetrabromobisphenol A (TBBPA) is a widely used brominated flame retardant, applied in a variety of commercial and household products, mainly electronic ones. Since the production of reactive oxygen species (ROS) is considered one of the principal cytotoxicity mechanisms, numerous studies undertake that aspect of TBBPA’s mechanism of action. The present study verifies if the fluorogenic substrate 2′,7′- dichlorodihydrofluorescein diacetate (H2DCFDA) should be used to detect ROS production induced by TBBPA. To determine the ability of TBBPA alone to stimulate the conversion of H2DCFDA to its fluorescent product 2’, 7’- dichlorofluorescein (DCF), we used a cell-free model. In the experiments…

0301 basic medicineDPPHHealth Toxicology and MutagenesisPolybrominated BiphenylsCell-free system03 medical and health scienceschemistry.chemical_compound0302 clinical medicineH2DCFDAFree radicalDichlorofluoresceinEnvironmental ChemistryOrganic chemistryCytotoxicitychemistry.chemical_classificationReactive oxygen speciesCell-Free SystemROSFree Radical ScavengersGeneral MedicineFluoresceinsFree radical scavengerPollutionTBBPA030104 developmental biologychemistryBrominated flame retardantTetrabromobisphenol AReactive Oxygen Species030217 neurology & neurosurgeryResearch ArticleDPPHNuclear chemistryEnvironmental Science and Pollution Research
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Contribution of allelic imbalance to colorectal cancer

2018

Point mutations in cancer have been extensively studied but chromosomal gains and losses have been more challenging to interpret due to their unspecific nature. Here we examine high-resolution allelic imbalance (AI) landscape in 1699 colorectal cancers, 256 of which have been whole-genome sequenced (WGSed). The imbalances pinpoint 38 genes as plausible AI targets based on previous knowledge. Unbiased CRISPR-Cas9 knockout and activation screens identified in total 79 genes within AI peaks regulating cell growth. Genetic and functional data implicate loss of TP53 as a sufficient driver of AI. The WGS highlights an influence of copy number aberrations on the rate of detected somatic point muta…

0301 basic medicineDenmarkLoss of HeterozygosityGeneral Physics and AstronomyAllelic ImbalanceLoss of heterozygosityGenotypeddc:576.5RNA Small Interferinglcsh:ScienceRNA Small Interfering/geneticsGeneticsMultidisciplinaryQGenomicsPhenotype3. Good healthGENOMEPhenotypesyöpägeenitAllelic ImbalanceTumor Suppressor Protein p53/geneticsColorectal NeoplasmsChromosomes Human Pair 8GENESDNA Copy Number VariationsGenotypeScienceTranscription Factors/geneticsGenomicscolorectal cancerBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyProto-Oncogene Proteins p21(ras)Proto-Oncogene Proteins p21(ras)/genetics03 medical and health sciencesmedicineHumansPoint MutationGenetic Predisposition to DiseaseGenepaksusuolisyöpäChromosome AberrationsWhole Genome SequencingHUMAN-COLONGene Expression ProfilingPoint mutationCancerGeneral Chemistrymedicine.diseaseColorectal Neoplasms/geneticsENHANCERS030104 developmental biologyCELLSlcsh:Q3111 BiomedicineTumor Suppressor Protein p53CRISPR-Cas SystemsmutaatiotTranscription FactorsMicrosatellite Repeats
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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

2018

International audience; Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut dev…

0301 basic medicineDiarrheaMaleCandidate geneAdolescentBone fragilityArticleBone and Bones03 medical and health sciencesYoung AdultCholestasisLoss of Function MutationGCUNC-45MyosinGeneticsMedicineAnimalsHumansFamilyLymphocytes[ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human geneticsHearing LossGeneGenetics (clinical)Loss functionZebrafishCholestasisbusiness.industryInfant NewbornIntracellular Signaling Peptides and ProteinsSyndromeFibroblastsmedicine.disease3. Good healthPedigreeDiarrhea030104 developmental biologyPhenotype[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsConcomitantChild PreschoolImmunologyFemalemedicine.symptombusinessGastrointestinal Motility
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Measuring spectrally-resolved information transfer.

2020

Information transfer, measured by transfer entropy, is a key component of distributed computation. It is therefore important to understand the pattern of information transfer in order to unravel the distributed computational algorithms of a system. Since in many natural systems distributed computation is thought to rely on rhythmic processes a frequency resolved measure of information transfer is highly desirable. Here, we present a novel algorithm, and its efficient implementation, to identify separately frequencies sending and receiving information in a network. Our approach relies on the invertible maximum overlap discrete wavelet transform (MODWT) for the creation of surrogate data in t…

0301 basic medicineDiscrete wavelet transformInformation transferComputer scienceEntropyInformation Theory0302 clinical medicineWaveletMathematical and Statistical TechniquesMedicine and Health SciencesBiology (General)Wavelet TransformsTemporal cortexMammalsEcologySystems BiologyApplied MathematicsSimulation and ModelingPhysicsWavelet transformMagnetoencephalographyEukaryotaBrainSignal FilteringComputational Theory and MathematicsModeling and SimulationPhysical SciencesVertebratesThermodynamicsEngineering and TechnologyWavelet transforms ; Algorithms ; Magnetoencephalography ; Information entropy ; Signal filtering ; Ferrets ; Permutation ; EntropyAnatomyAlgorithmInformation EntropyAlgorithmsResearch ArticleComputer and Information SciencesQH301-705.5PermutationWavelet AnalysisPrefrontal CortexResearch and Analysis Methods03 medical and health sciencesCellular and Molecular NeuroscienceGeneticsEntropy (information theory)AnimalsHumansInformation flow (information theory)Molecular BiologyEcology Evolution Behavior and SystematicsDiscrete MathematicsFerretsOrganismsBiology and Life Sciences030104 developmental biologyCombinatoricsSignal ProcessingAmniotesTransfer entropyZoologyMathematical Functions030217 neurology & neurosurgeryMathematicsPLoS computational biology
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