Search results for "rare"

showing 10 items of 2778 documents

Ochrobactrum sp. MPV1 from a dump of roasted pyrites can be exploited as bacterial catalyst for the biogenesis of selenium and tellurium nanoparticles

2017

Bacteria have developed different mechanisms for the transformation of metalloid oxyanions to non-toxic chemical forms. A number of bacterial isolates so far obtained in axenic culture has shown the ability to bioreduce selenite and tellurite to the elemental state in different conditions along with the formation of nanoparticles—both inside and outside the cells—characterized by a variety of morphological features. This reductive process can be considered of major importance for two reasons: firstly, toxic and soluble (i.e. bioavailable) compounds such as selenite and tellurite are converted to a less toxic chemical forms (i.e. zero valent state); secondly, chalcogen nanoparticles have att…

0301 basic medicineBioconversionIron CompoundOchrobactrum sp. MPV1lcsh:QR1-502Metal NanoparticlesSelenious AcidSettore BIO/19 - Microbiologia GeneraleApplied Microbiology and BiotechnologyArsenicalslcsh:MicrobiologyCatalysiRare earth oxyanionschemistry.chemical_compoundAerobic selenite reductionArsenicalChalcogen metalloidsSettore CHIM/02 - Chimica FisicaMineralsAerobic tellurite reductionbiologyAxenic CultureAerobiosiAerobiosisBiochemistryItalyMetalloidTelluriumBiotechnologyBacterial-metalloid interactionSulfidechemistry.chemical_elementBioengineeringSulfidesOchrobactrumCatalysisChalcogen metalloidCatalysis03 medical and health sciencesChalcogenOchrobactrumMetal NanoparticleSeleniumBiosynthesisBacterial-metalloid interactionsMineralRare earth oxyanionResearchBiogenically synthesized nanoparticlesBiogenically synthesized nanoparticlebiology.organism_classificationCombinatorial chemistryMicroscopy Electron030104 developmental biologychemistryBacteriaSeleniumIron CompoundsMicrobial Cell Factories
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The effect of incorporating different concentrations of chlorhexidine digluconate on the degree of conversion of an experimental adhesive resin

2018

Background The aim of this study was to evaluate the effect of chlorhexidine digluconate incorporation on the degree of conversion of an experimental adhesive resin. Material and Methods The experimental resin was prepared from 70 wt% bisphenol A glycerolate dimethacrylate, 30 wt% hydroxyethyl methacrylate, silanized SiO2 nanofillers, 0.5% of camphorquinone and ethyl 4-dimethylaminebenzoate (binary photo-initiator system). Five chlorhexidine digluconate concentrations (0, 0.5, 1, 2 and 4 wt%) were then incorporated into the experimental resin. Thirty Potassium Bromide pellets were prepared then divided into six groups (n=5/group), repre¬senting the tested adhesive resins (Single Bond 2, 0, …

0301 basic medicineBisphenol AChemistryPotassium bromideResearchChlorhexidinePellets030206 dentistry(Hydroxyethyl)methacrylate:CIENCIAS MÉDICAS [UNESCO]Operative Dentistry and Endodontics03 medical and health scienceschemistry.chemical_compound030104 developmental biology0302 clinical medicinePolymerizationUNESCO::CIENCIAS MÉDICASmedicineAdhesiveFourier transform infrared spectroscopyGeneral DentistryNuclear chemistrymedicine.drug
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Renal haemodynamics and coronary atherosclerotic burden are associated in patients with hypertension and mild coronary artery disease

2019

Intrarenal hemodynamic alterations are independent predictors of cardiovascular events in different populations. It has been hypothesized that there is an association between renal hemodynamics and coronary atherosclerotic burden in patients with hypertension. Therefore, the present study examined the associations between renal hemodynamics, coronary atherosclerotic burden and carotid atherosclerotic disease. A total of 130 patients with hypertension aged between 30-80 years who had been referred for an elective coronary angiography were enrolled in the present study. A duplex ultrasound of the intrarenal vasculature was performed to evaluate the resistive index (RI), pulsatility index (PI)…

0301 basic medicineCancer Researchmedicine.medical_specialtyEjection fractionbusiness.industrySignificant differenceCancerHemodynamicsRenal haemodynamicsGeneral MedicineArticlesmedicine.diseaseCoronary artery disease03 medical and health sciences030104 developmental biology0302 clinical medicineImmunology and Microbiology (miscellaneous)030220 oncology & carcinogenesisInternal medicineCardiologymedicineArterial stiffnessIn patientIntrarenal resistive index (RI) - coronary disease - coronary atherosclerosisbusiness
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Infrared microspectroscopic determination of collagen cross-links in articular cartilage

2017

Collagen forms an organized network in articular cartilage to give tensile stiffness to the tissue. Due to its long half-life, collagen is susceptible to cross-links caused by advanced glycation end-products. The current standard method for determination of cross-link concentrations in tissues is the destructive high-performance liquid chromatography (HPLC). The aim of this study was to analyze the cross-link concentrations nondestructively from standard unstained histological articular cartilage sections by using Fourier transform infrared (FTIR) microspectroscopy. Half of the bovine articular cartilage samples ( n = 27 ) were treated with threose to increase the collagen cross-linking whi…

0301 basic medicineCartilage ArticularGlycation End Products AdvancedcollagenSpectrophotometry InfraredPROTEOGLYCAN01 natural sciencesHigh-performance liquid chromatographychemistry.chemical_compoundBiomedicinsk laboratorievetenskap/teknologiPartial least squares regressionBiomedical Laboratory Science/Technologyinfrared spectroscopyPyridinolineThreoseChemistryMedicinsk bildbehandlingSTIFFNESSinfrapunaspektroskopiata3141AnatomyAtomic and Molecular Physics and OpticsDIFFUSIONElectronic Optical and Magnetic Materialsmedicine.anatomical_structuremultivariate analysisGLYCATION END-PRODUCTSNONENZYMATIC GLYCATIONBiomedical EngineeringInfrared spectroscopyI COLLAGENFORMALIN FIXATIONcross-linksOrthopaedicsBiomaterials03 medical and health sciencesmedicineAnimalsarticular cartilageFourier transform infrared spectroscopyPentosidineLeast-Squares Analysista217ChromatographyCartilage010401 analytical chemistry3126 Surgery anesthesiology intensive care radiology0104 chemical sciencesMedical Image Processing030104 developmental biologyOrtopedi1182 Biochemistry cell and molecular biologyCattleJournal of Biomedical Optics
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CRISPR-Cas9 screen reveals a MYCN-amplified neuroblastoma dependency on EZH2.

2018

Pharmacologically difficult targets, such as MYC transcription factors, represent a major challenge in cancer therapy. For the childhood cancer neuroblastoma, amplification of the oncogene MYCN is associated with high-risk disease and poor prognosis. Here, we deployed genome-scale CRISPR-Cas9 screening of MYCN-amplified neuroblastoma and found a preferential dependency on genes encoding the polycomb repressive complex 2 (PRC2) components EZH2, EED, and SUZ12. Genetic and pharmacological suppression of EZH2 inhibited neuroblastoma growth in vitro and in vivo. Moreover, compared with neuroblastomas without MYCN amplification, MYCN-amplified neuroblastomas expressed higher levels of EZH2. ChIP…

0301 basic medicineCellular differentiationMedical and Health SciencesNeuroblastomaSUZ12Oncogene MYCNCRISPR-Cas SystemCancerPediatricNeuronsN-Myc Proto-Oncogene ProteinTumorEZH2EpigeneticCell DifferentiationGeneral MedicineUp-RegulationGene Expression Regulation NeoplasticOncology5.1 PharmaceuticalsEpigeneticsDevelopment of treatments and therapeutic interventionsHumanResearch ArticlePediatric Research InitiativePediatric CancerImmunologymacromolecular substancesBiologyN-Myc Proto-Oncogene ProteinCell Line03 medical and health sciencesRare DiseasesNeuroblastomaCell Line TumormedicineGeneticsHumansEnhancer of Zeste Homolog 2 ProteinTranscription factorneoplasmsNeoplasticHuman GenomeNeurosciencesGene AmplificationNeuronmedicine.disease030104 developmental biologyGene Expression RegulationCancer researchHistone deacetylaseCRISPR-Cas SystemsThe Journal of clinical investigation
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Ethanol Controls the Self-Assembly and Mesoscopic Properties of Human Insulin Amyloid Spherulites.

2018

Protein self-assembly into amyloid fibrils or highly hierarchical superstructures is closely linked to neurodegenerative pathologies as Alzheimer's and Parkinson's diseases. Moreover, protein assemblies also emerged as building blocks for bioinspired nanostructured materials. In both the above mentioned fields, the main challenge is to control the growth and properties of the final protein structure. This relies on a more fundamental understanding of how interactions between proteins can determine structures and functions of biomolecular aggregates. Here, we identify a striking effect of the hydration of the single human insulin molecule and solvent properties in controlling hydrophobicity/…

0301 basic medicineCircular dichroismAmyloidAmyloidInsulins02 engineering and technologyMicroscopy Atomic Force03 medical and health scienceschemistry.chemical_compoundProtein structureMicroscopy Electron TransmissionScattering Small AngleSpectroscopy Fourier Transform InfraredMaterials ChemistryMoleculeHumansPhysical and Theoretical ChemistryAMYLOID SPECTROSOPY FLUORECENCE MICROSCOPYMesoscopic physicsEthanolMicroscopy ConfocalEthanolChemistryCircular DichroismOptical Imaging021001 nanoscience & nanotechnologySurfaces Coatings and FilmsNeutron Diffraction030104 developmental biologySpheruliteBiophysics0210 nano-technologySuperstructure (condensed matter)Hydrophobic and Hydrophilic Interactions
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2017

Functional near infrared spectroscopy (fNIRS) is a promising neuroimaging method for investigating networks of cortical regions over time. We propose a directed effective connectivity method (TPDC) allowing the capture of both time and frequency evolution of the brain’s networks using fNIRS data acquired from healthy subjects performing a continuous finger-tapping task. Using this method we show the directed connectivity patterns among cortical motor regions involved in the task and their significant variations in the strength of information flow exchanges. Intra and inter-hemispheric connections during the motor task with their temporal evolution are also provided. Characterisation of the …

0301 basic medicineComputer scienceHuman brainAtomic and Molecular Physics and OpticsTime–frequency analysisTask (project management)03 medical and health sciencesMotor task030104 developmental biology0302 clinical medicinemedicine.anatomical_structureNeuroimagingDynamics (music)medicineFunctional near-infrared spectroscopyEvolution of the brainNeuroscience030217 neurology & neurosurgeryBiotechnologyBiomedical Optics Express
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Uptake of polyphosphate microparticles in vitro (SaOS-2 and HUVEC cells) followed by an increase of the intracellular ATP pool size

2017

Recently two approaches were reported that addressed a vitally important problem in regenerative medicine, i. e. the successful treatment of wounds even under diabetic conditions. Accordingly, these studies with diabetic rabbits [Sarojini et al. PLoS One 2017, 12(4):e0174899] and diabetic mice [Müller et al. Polymers 2017, 9, 300] identified a novel (potential) target for the acceleration of wound healing in diabetes. Both studies propose a raise of the intracellular metabolic energy status via exogenous administration either of ATP, encapsulated into lipid vesicles, or of polyphosphate (polyP) micro-/nanoparticles. Recently this physiological polymer, polyP, was found to release metabolic …

0301 basic medicineConfocal MicroscopyBioenergeticsPhysiologyPolymerslcsh:Medicine02 engineering and technologyTrifluoperazineBiochemistryAdenosine TriphosphateEndocrinologyPolyphosphatesSpectroscopy Fourier Transform InfraredMedicine and Health Scienceslcsh:ScienceStainingMicroscopySecretory PathwayMultidisciplinaryChemistryLight MicroscopyCell Staining021001 nanoscience & nanotechnologyEndocytosisMicrospheres3. Good healthCell biologyChemistryMacromoleculesCell ProcessesPhysical SciencesRabbits0210 nano-technologyIntracellularResearch Articlemedicine.drugEndocrine DisordersMaterials by StructureMaterials ScienceBioenergeticsResearch and Analysis MethodsEndocytosisCell Line03 medical and health sciencesTissue RepairDiabetes Mellitusotorhinolaryngologic diseasesmedicineAnimalsHumansCalcium metabolismWound Healinglcsh:RSpectrometry X-Ray EmissionBiology and Life SciencesCell BiologyPolymer Chemistrydigestive system diseasesIn vitroMetabolism030104 developmental biologySpecimen Preparation and TreatmentCell cultureMetabolic DisordersMicroscopy Electron ScanningCalciumlcsh:QEnergy MetabolismPhysiological ProcessesWound healingConfocal Laser MicroscopyPowder DiffractionPLOS ONE
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Genetics and Gene Therapy of Anderson-Fabry Disease.

2018

Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In the presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by the demonstration of absence or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay …

0301 basic medicineGenetic enhancementChaperone therapyDisease030204 cardiovascular system & hematologyBioinformaticsMice0302 clinical medicineAlpha galactosidase ADrug DiscoveryGenetics (clinical)KidneybiologyTrihexosylceramidesGenetic disorderEnzyme replacement therapyDependovirusRecombinant ProteinsAlpha galactosidase A; Chaperone therapy; Enzyme replacement therapy; Fabry disease; Gene therapy; Viral vectors; Molecular Medicine; Molecular Biology; Genetics; Drug Discovery3003 Pharmaceutical Science; Genetics (clinical)Isoenzymesmedicine.anatomical_structureMolecular Medicinemedicine.symptomGenetic Vectors03 medical and health sciencesGene therapyViral vectorRare DiseasesGeneticGeneticsmedicineAnimalsHumansEnzyme Replacement TherapyMolecular BiologyAlpha-galactosidasebusiness.industryDrug Discovery3003 Pharmaceutical ScienceOrgan dysfunctionGenetic Therapymedicine.diseaseFabry diseaseDisease Models Animal030104 developmental biologyalpha-GalactosidaseMutationbiology.proteinFabry DiseasebusinessBiomarkersCurrent gene therapy
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STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

2017

Item does not contain fulltext BACKGROUND: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations. METHODS: Among patients referred for intellectual disability (ID) in genetics departments worldwide, array-comparative genomic hybridisation (CGH), gene panel, whole-exome sequencing or whole-genome sequencing were performed following the …

0301 basic medicineGeneticsMutationCohesin complexPoint mutationBiologymedicine.diseasemedicine.disease_causeBioinformaticsFrameshift mutation03 medical and health sciences030104 developmental biology0302 clinical medicineIntellectual disabilityGeneticsmedicineJournal ArticleMissense mutationGene030217 neurology & neurosurgeryGenetics (clinical)Exome sequencingRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Journal of Medical Genetics
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