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showing 10 items of 10618 documents

Cell stimulation versus cell death induced by sequential treatments with pulsed electric fields and cold atmospheric pressure plasma

2018

Pulsed electric fields (PEFs) and cold atmospheric pressure plasma (CAP) are currently both investigated for medical applications. The exposure of cells to PEFs can induce the formation of pores in cell membranes and consequently facilitate the uptake of molecules. In contrast, CAP mainly acts through reactive species that are generated in the liquid environment. The objective of this study was to determine, if PEFs combined with plasma-treated cell culture medium can mutually reinforce effects on viability of mammalian cells. Experiments were conducted with rat liver epithelial WB-F344 cells and their tumorigenic counterpart WB-ras for a direct comparison of non-tumorigenic and tumorigenic…

0301 basic medicinePlasma GasesCell MembranesCancer Treatmentlcsh:MedicineMechanical Treatment of Specimens0302 clinical medicineElectricityNeoplasmsMedicine and Health SciencesEnzyme assaysColorimetric assayslcsh:ScienceBioassays and physiological analysisCells CulturedMTT assayMultidisciplinaryChemistryPhysicsElectroporationKetonesrespiratory systemCombined Modality TherapyChemistryElectroporationMembraneOncologySpecimen DisruptionElectric Field030220 oncology & carcinogenesisPhysical SciencesBiological CulturesCellular Structures and OrganellesResearch ArticlePyruvateCell typeProgrammed cell deathCell SurvivalElectric Stimulation TherapyAtmospheric-pressure plasmaResearch and Analysis Methods03 medical and health sciencesCell Line TumorAnimalsHumansMTT assayCell ProliferationCell growthlcsh:RChemical CompoundsBiology and Life SciencesEpithelial CellsCell BiologyCell CulturesCulture MediaRats030104 developmental biologyCytostaticsSpecimen Preparation and TreatmentCell cultureBiochemical analysisBiophysicslcsh:QAcidsPLOS ONE
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Cold Atmospheric Plasma Promotes Regeneration-Associated Cell Functions of Murine Cementoblasts In Vitro

2021

The aim of the study was to examine the efficacy of cold atmospheric plasma (CAP) on the mineralization and cell proliferation of murine dental cementoblasts. Cells were treated with CAP and enamel matrix derivates (EMD). Gene expression of alkaline phosphatase (ALP), bone gamma-carboxyglutamate protein (BGLAP), periostin (POSTN), osteopontin (OPN), osterix (OSX), collagen type I alpha 1 chain (COL1A1), dentin matrix acidic phosphoprotein (DMP)1, RUNX family transcription factor (RUNX)2, and marker of proliferation Ki-67 (KI67) was quantified by real-time PCR. Protein expression was analyzed by immunocytochemistry and ELISA. ALP activity was determined by ALP assay. Von Kossa and alizarin r…

0301 basic medicinePlasma GasesGene Expressioncold atmospheric plasmaMice0302 clinical medicineCell MovementmineralizationOsteopontinBiology (General)CementogenesisSpectroscopyDental CementumbiologyChemistryCell DifferentiationGeneral Medicinetraumatic dental injuriesdental hard tissue regeneration therapyComputer Science ApplicationsChemistryAlkaline phosphatasecementoblastsemdogainQH301-705.5Cell SurvivalproliferationCementoblastOsteocalcinPeriostinArticleCatalysisCell LineInorganic Chemistry03 medical and health sciencesCalcification Physiologicstomatognathic systemAnimalsViability assayPhysical and Theoretical ChemistryQD1-999Molecular BiologyCell ProliferationCell growthOrganic Chemistry030206 dentistryMolecular biologyDMP1Collagen type I alpha 1030104 developmental biologyGene Expression Regulationbiology.proteinOsteopontinTranscriptomeInternational Journal of Molecular Sciences
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Amorphous polyphosphate–hydroxyapatite: A morphogenetically active substrate for bone-related SaOS-2 cells in vitro

2015

There is increasing evidence that inorganic calcium-polyphosphates (polyP) are involved in human bone hydroxyapatite (HA) formation. Here we investigated the morphology of the particles, containing calcium phosphate (CaP) with different concentrations of various Na-polyP concentrations, as well as their effects in cell culture. We used both SaOS-2 cells and human mesenchymal stem cells. The polymeric phosphate readily binds calcium ions under formation of insoluble precipitates. We found that addition of low concentrations of polyP (10wt.%, referred to the CaP deposits) results in an increased size of the HA crystals. Surprisingly, at higher polyP concentrations (10wt.%) the formation of cr…

0301 basic medicinePolymersBiocompatible Materials02 engineering and technologyBone tissueBiochemistryApatitechemistry.chemical_compoundX-Ray DiffractionOsteogenesisPolyphosphatesSpectroscopy Fourier Transform InfraredTissue ScaffoldsBiomaterialGeneral Medicine021001 nanoscience & nanotechnologyMicrospheresGene Expression Regulation Neoplasticmedicine.anatomical_structureBiochemistryvisual_artvisual_art.visual_art_mediumAlkaline phosphataseHydroxyapatites0210 nano-technologyBiotechnologyMaterials scienceBiocompatibilityBiomedical Engineeringchemistry.chemical_elementCalciumCollagen Type IBiomaterials03 medical and health sciencesCalcification PhysiologicMicroscopy Electron TransmissionCell Line TumormedicineHumansBone regenerationMolecular BiologyCell ProliferationIonsOsteoblastsTissue EngineeringSodiumMesenchymal Stem CellsAlkaline PhosphatasePhosphateMicroscopy ElectronDurapatite030104 developmental biologychemistryBiophysicsCalciumActa Biomaterialia
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KnotGenome: a server to analyze entanglements of chromosomes.

2018

Abstract The KnotGenome server enables the topological analysis of chromosome model data using three-dimensional coordinate files of chromosomes as input. In particular, it detects prime and composite knots in single chromosomes, and links between chromosomes. The knotting complexity of the chromosome is presented in the form of a matrix diagram that reveals the knot type of the entire polynucleotide chain and of each of its subchains. Links are determined by means of the Gaussian linking integral and the HOMFLY-PT polynomial. Entangled chromosomes are presented graphically in an intuitive way. It is also possible to relax structure with short molecular dynamics runs before the analysis. Kn…

0301 basic medicinePolynomialProtein ConformationGaussianPolynucleotidesBiologyType (model theory)Molecular Dynamics SimulationPrime (order theory)ChromosomesQuantitative Biology::Subcellular Processes03 medical and health sciencessymbols.namesakeMatrix (mathematics)Knot (unit)Chain (algebraic topology)GeneticsDiscrete mathematicsInternetDiagramComputational BiologyMathematics::Geometric TopologyQuantitative Biology::Genomics030104 developmental biologyWeb Server IssuesymbolsAlgorithmsSoftwareNucleic acids research
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Epigenetic mutations can both help and hinder adaptive evolution.

2015

Epigenetic variation is being integrated into our understanding of adaptation, yet we lack models on how epigenetic mutations affect evolution that includes de novo genetic change. We model the effects of epigenetic mutations on the dynamics and endpoints of adaptive walks—a process where a series of beneficial mutations move a population towards a fitness optimum. We use an individual-based model of an asexual population, where mutational effects are drawn from Fisher's geometric model. We find cases where epigenetic mutations speed adaptation or result in populations with higher fitness. However, we also find cases where they slow adaptation or result in populations with lower fitness. Th…

0301 basic medicinePopulationAdaptation BiologicaladaptationBiologyEpigenesis Genetic03 medical and health sciencesevolutionGeneticsComputer SimulationEpigeneticseducationEcology Evolution Behavior and SystematicsGeneticseducation.field_of_studyFisher's geometric modelNatural selectionepigeneticsModels Geneticta1184Biological Evolution030104 developmental biologyPhenotypeEvolutionary biologyFisher's geometric modelMutationta1181genetic assimilationFitness effectsGenetic FitnessAdaptationGenetic assimilationAdaptive evolutionMolecular ecology
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Sex-Specific Genetic Effects Associated with Pigmentation, Sensitivity to Sunlight, And Melanoma in a Population of Spanish Origin

2016

Background Human pigmentation is a polygenic quantitative trait with high heritability. In addition to genetic factors, it has been shown that pigmentation can be modulated by oestrogens and androgens via up- or down-regulation of melanin synthesis. Our aim was to identify possible sex differences in pigmentation phenotype as well as in melanoma association in a melanoma case-control population of Spanish origin. Methods Five hundred and ninety-nine females (316 melanoma cases and 283 controls) and 458 males (234 melanoma cases and 224 controls) were analysed. We genotyped 363 polymorphisms (single nucleotide polymorphisms (SNPs)) from 65 pigmentation gene regions. Results When samples were…

0301 basic medicinePopulationGenome-wide association studyBiologyQuantitative trait locussusceptibilityGender Studies03 medical and health sciences0302 clinical medicineEndocrinologymedicinesex polymorphismssexpigmentationeducationriskGeneticseducation.field_of_studyvariantsskin cancerMelanomaResearchdeterminantsHeritabilitymedicine.diseasePhenotypeeyecolor030104 developmental biology030220 oncology & carcinogenesisSpanish Origingenome-wide associationskin pigmentationsense organsSkin cancerUV sensitivitypolymorphismsmalignant-melanomaeuropeans
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Sterol 27-hydroxylase polymorphism significantly associates with shorter telomere, higher cardiovascular and type-2 diabetes risk in obese subjects

2018

Background/objectivesThe pathologic relationship linking obesity and lipid dismetabolism with earlier onset of aging-related disorders, including cardiovascular disease (CVD) and type-2 diabetes (T2D), is not fully elucidate. Chronic inflammatory state, in obese individuals, may accelerate cellular aging. However, leukocyte telomere length (LTL), the cellular biological aging indicator, is elusively linked with obesity. Recent studies indicate that sterol 27-hydroxylase (CYP27A1) is an emerging antiatherogenic enzyme, that, by converting extrahepatic cholesterol to 27-hydroxycholesterol, facilitates cholesterol removal via high-density lipoprotein-cholesterol (HDL-C). We tested the hypothes…

0301 basic medicinePremature agingmedicine.medical_specialtyGenotypingHDLEndocrinology Diabetes and MetabolismType 2 diabetesOverweightCardiovascular diseases; Cholesterol; Diabetes mellitus type 2; Genotyping; HDL; Insulin sensitive obese; Obesity; Telomere shortening; Endocrinology Diabetes and Metabolismlcsh:Diseases of the endocrine glands. Clinical endocrinologyInsulin sensitive obeseTelomere shortening03 medical and health scienceschemistry.chemical_compoundInsulin resistanceWaist–hip ratioDiabetes mellitus type 2EndocrinologyInternal medicineDiabetes mellitusmedicineGlucose homeostasisObesityOriginal Research2. Zero hungerlcsh:RC648-665business.industrymedicine.disease3. Good healthDiabetes and Metabolism030104 developmental biologyEndocrinologyCardiovascular diseasesCholesterolchemistryGlycated hemoglobinmedicine.symptombusiness
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Evolutionary insight on localization of 18S, 28S rDNA genes on homologous chromosomes in Primates genomes

2018

Abstract We explored the topology of 18S and 28S rDNA units by fluorescence in situ hybridization (FISH) in the karyotypes of thirteen species representatives from major groups of Primates and Tupaia minor (Günther, 1876) (Scandentia), in order to expand our knowledge of Primate genome reshuffling and to identify the possible dispersion mechanisms of rDNA sequences. We documented that rDNA probe signals were identified on one to six pairs of chromosomes, both acrocentric and metacentric ones. In addition, we examined the potential homology of chromosomes bearing rDNA genes across different species and in a wide phylogenetic perspective, based on the DAPI-inverted pattern and their synteny t…

0301 basic medicinePrimateslcsh:QH426-470Plant ScienceRepetitive DNABiologySettore BIO/08 - AntropologiasynapomorphyGenomeHomology (biology)03 medical and health sciencesmedicineGeneticsAnimaliaChordataRibosomal DNASyntenyPhylogenetic treemedicine.diagnostic_testPrimateFluorescence in situ hybridizationKaryotypeScandentialcsh:Genetics030104 developmental biologyEvolutionary biologyMammaliaAnimal Science and Zoologyrepetitive DNAstree shrewFluorescence in situ hybridizationBiotechnologyResearch ArticleComparative Cytogenetics
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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.

2020

X-linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (KDM5C) gene. KDM5C variants are one of the major causes of moderate to severe XLID. Affected males present with short stature, distinctive facial features, behavioral disorders, epilepsy, and spasticity. For most of these variants, related female carriers have been reported, but phenotypic descriptions were poor. Here, we present clinical and molecular features of 19 females carrying 10 novel heterozygous variants affecting KDM5C function, including five probands with de novo variants. Four h…

0301 basic medicineProbandAdultMaleHeterozygoteX-linked intellectual disabilityGenetic counselingDisease030105 genetics & heredityBiologyShort stature03 medical and health sciencesYoung AdultGenes X-LinkedIntellectual DisabilityIntellectual disabilityGeneticsmedicineHumans10. No inequalityExomeGenetics (clinical)GeneticsHistone DemethylasesEpilepsyGenetic heterogeneityGenetic Variationmedicine.disease3. Good health030104 developmental biologyPhenotypeChild PreschoolMental Retardation X-LinkedFemalemedicine.symptomClinical geneticsREFERENCES
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Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

2017

Targeted resequencing gene panels are used in the diagnostic setting to identify gene defects in epilepsy. We performed targeted resequencing using a 30-genes panel and a 95-genes panel in 349 patients with drug-resistant epilepsies beginning in the first years of life. We identified 71 pathogenic variants, 42 of which novel, in 30 genes, corresponding to 20.3% of the probands. In 66% of mutation positive patients seizures onset occurred before age 6 months. The 95-genes panel allowed a genetic diagnosis in 22 (6.3%) patients that would have otherwise been missed using the 30-gene panel. About 50% of mutations were identified in genes coding for sodium and potassium channel components. SCN2…

0301 basic medicineProbandMaleCDKL5Drug Resistancemedicine.disease_causeBioinformaticsEpilepsyAnticonvulsantSTXBP1Age of OnsetChildGenetics (clinical)AlleleMutationepilepsy; next-generation sequencing; gene panel; mutationPhenotypeMagnetic Resonance ImagingSettore MED/39 - Neuropsichiatria Infantile3. Good healthPhenotypeChild PreschoolAnticonvulsantsFemaleSequence AnalysisHumanAdolescentGenotypeGenetic Association StudieBiologyMECP203 medical and health sciencesGeneticgene panelGeneticsmedicineHumansGenetic Predisposition to DiseasePreschoolGeneAllelesGenetic Association StudiesGene Expression ProfilingInfant NewbornComputational BiologyInfantMolecular Sequence AnnotationDNASequence Analysis DNANewbornmedicine.disease030104 developmental biologyepilepsynext-generation sequencingmutation
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