Search results for "SID"

showing 10 items of 6756 documents

Molecular and clinical studies in five index cases with novel mutations in the GLA gene

2016

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…

0301 basic medicineAdultMalep.R227Pnovel moutationAdolescentc.639 + 5G > TMutation MissenseBiologyLeft ventricular hypertrophy03 medical and health sciencesExonYoung Adult0302 clinical medicineSettore BIO/13 - Biologia ApplicataGeneticsmedicinefabry; novel moutationMissense mutationAlpha-galactosidase AHumansPoint MutationCornea verticillataGenetic Predisposition to DiseaseChildfabryGLA genec.846_847delTCGeneticsAlpha-galactosidasePoint mutationFabry disease; Alpha-galactosidase A; c.846_847delTC; p.E341X; p.C382X; p.R227P; c.639 + 5G > Tp.E341XGeneral MedicineMiddle Agedmedicine.diseaseMolecular biologyFabry diseaseStop codon030104 developmental biologyp.C382Xalpha-Galactosidasebiology.proteinFabry DiseaseFemalemedicine.symptom030217 neurology & neurosurgery
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Effects of intrinsic aerobic capacity, aging and voluntary running on skeletal muscle sirtuins and heat shock proteins

2016

Aim Sirtuins are proteins that connect energy metabolism, oxidative stress and aging. Expression of heat shock proteins (Hsps) is regulated by heat shock factors (HSFs) in response to various environmental and physiological stresses, such as oxidative stress. Oxidative stress accumulates during aging which makes cells more prone to DNA damage. Although many experimental animal models have been designed to study the effects of knockdown or overexpression of sirtuins, HSFs and Hsps, little is known about how aging per se affects their expression. Here we study the impact of intrinsic aerobic capacity, aging and voluntary exercise on the levels of sirtuins, HSFs and Hsps in skeletal muscle. Me…

0301 basic medicineAgingmedicine.medical_specialtyphysical activityCitrate (si)-SynthaseOxidative phosphorylationta3111medicine.disease_causeBiochemistryRunning03 medical and health sciences0302 clinical medicineEndocrinologyPhysical Conditioning AnimalHeat shock proteinInternal medicineGeneticsmedicineAnimalsSirtuinsAerobic exerciseta318skeletal muscleta315Muscle Skeletaloksidatiivinen stressiMolecular BiologyHeat-Shock ProteinsAerobic capacitybiologyagingBody WeightSkeletal muscleRats Inbred StrainsCell BiologyHsp70sirtuinOxidative Stress030104 developmental biologymedicine.anatomical_structureEndocrinologySirtuinbiology.proteinFemaleEnergy Intake030217 neurology & neurosurgeryOxidative stressExperimental Gerontology
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Effects of Chronic Dopamine D2R Agonist Treatment and Polysialic Acid Depletion on Dendritic Spine Density and Excitatory Neurotransmission in the mP…

2016

Dopamine D2 receptors (D2R) in the medial prefrontal cortex (mPFC) are key players in the etiology and therapeutics of schizophrenia. The overactivation of these receptors contributes to mPFC dysfunction. Chronic treatment with D2R agonists modifies the expression of molecules implicated in neuronal structural plasticity, synaptic function, and inhibitory neurotransmission, which are also altered in schizophrenia. These changes are dependent on the expression of the polysialylated form of the neural cell adhesion molecule (PSA-NCAM), a plasticity-related molecule, but nothing is known about the effects of D2R and PSA-NCAM on excitatory neurotransmission and the structure of mPFC pyramidal n…

0301 basic medicineAgonistMaleDendritic spineArticle SubjectGlycoside Hydrolasesmedicine.drug_classDendritic SpinesPrefrontal CortexNeural Cell Adhesion Molecule L1NeurotransmissionInhibitory postsynaptic potentialbehavioral disciplines and activitiesSynaptic Transmissionlcsh:RC321-571Rats Sprague-Dawley03 medical and health sciences0302 clinical medicineDopamineDopamine receptor D2PhenethylaminesmedicineAnimalslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryChemistryReceptors Dopamine D2Pyramidal CellsGlutamate receptorRats030104 developmental biologyNeurologynervous systemDopamine AgonistsSialic AcidsNeural cell adhesion moleculeNeurology (clinical)Neuroscience030217 neurology & neurosurgerymedicine.drugResearch ArticleNeural plasticity
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A 300 IR sublingual tablet is an effective, safe treatment for house dust mite-induced allergic rhinitis: An international, double-blind, placebo-con…

2021

Background: Allergic rhinitis induced by house dust mites (HDMs) is a highly prevalent but often underdiagnosed and undertreated/untreated chronic disease. It often has a negative impact on sleep, work, leisure activities, and health-related quality of life. Allergen immunotherapy is a proven, safe treatment for respiratory allergies. Objective: We sought to assess the efficacy and safety of a 300 index of reactivity (IR) sublingual tablet formulation of Dermatophagoides pteronyssinus:Dermatophagoides farinae 1:1 extract in adolescents (aged >_12) and adults with moderate to severe HDM-induced allergic rhinitis. Methods: In a phase III, international, double-blind, placebo controlled, rando…

0301 basic medicineAllergen immunotherapy; allergic rhinitis; allergy; house-dust mite; medication score; sublingual immunotherapy; symptom score; tablet; total combined scoreMaleAllergyInternational Cooperation*total combined scoreSeverity of Illness Indexlaw.invention0302 clinical medicineRandomized controlled triallaw*allergyClinical endpointImmunology and Allergy[SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergologyhouse dust miteAllergen immunotherapybiologyPyroglyphidae*tablet*allergic rhinitis*sublingual immunotherapy3. Good healthhouse-dust mitetotal combined score*Allergen immunotherapyFemale[SDV.IMM.IMM] Life Sciences [q-bio]/Immunology/Immunotherapy[SDV.IMM.ALL] Life Sciences [q-bio]/Immunology/Allergology*medication scoreAdultAllergen immunotherapymedicine.medical_specialtyAdolescentDrug-Related Side Effects and Adverse ReactionsImmunologyPlacebosublingual immunotherapymedication score03 medical and health sciencesYoung AdultDouble-Blind MethodInternal medicinemedicineAnimalsHumansAntigens DermatophagoidesAsthmaHouse dust mitetabletSublingual Immunotherapyallergic rhinitisbusiness.industry[SDV.IMM.IMM]Life Sciences [q-bio]/Immunology/Immunotherapymedicine.diseasebiology.organism_classificationallergyPlacebo EffectRhinitis Allergic*symptom scoresymptom scoreClinical trial030104 developmental biology030228 respiratory system*house-dust miteQuality of LifebusinessThe Journal of allergy and clinical immunology
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Effects of oleuropein on tumor cell growth and bone remodelling: Potential clinical implications for the prevention and treatment of malignant bone d…

2020

Oleuropein (Ole) is the main bioactive phenolic compound present in olive leaves, fruits and olive oil. This molecule has been shown to exert beneficial effects on several human pathological conditions. In particular, recent preclinical and observational studies have provided evidence that Ole exhibits chemo-preventive effects on different types of human tumors. Studies undertaken to elucidate the specific mechanisms underlying these effects have shown that this molecule may thwart several key steps of malignant progression, including tumor cell proliferation, survival, angiogenesis, invasion and metastasis, by modulating the expression and activity of several growth factors, cytokines, adh…

0301 basic medicineAngiogenesisIridoid GlucosidesMetastasiChemoprevention030226 pharmacology & pharmacyGeneral Biochemistry Genetics and Molecular BiologyMetastasisBone remodeling03 medical and health scienceschemistry.chemical_compound0302 clinical medicineOleuropeinmedicineAnimalsHumansIridoidsGeneral Pharmacology Toxicology and PharmaceuticsBoneCancerCell ProliferationOleuropeinbusiness.industryCell adhesion moleculePolyphenolsGeneral Medicinemedicine.diseaseTumor progression030104 developmental biologyCellular MicroenvironmentchemistryTumor progressionBone metastasiCancer cellSettore BIO/14 - FarmacologiaDisease ProgressionCancer researchBone RemodelingBone DiseasesbusinessHoming (hematopoietic)Life Sciences
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Guava: phytochemical composition of a potential source of antioxidants for cosmetic and/or dermatological applications

2017

Made available in DSpace on 2018-11-28T14:21:45Z (GMT). No. of bitstreams: 0 Previous issue date: 2017-01-01. Added 1 bitstream(s) on 2019-10-09T18:26:25Z : No. of bitstreams: 1 S1984-82502017000200612.pdf: 803011 bytes, checksum: 199524e8d40cccb25490594ec61b3ed8 (MD5) Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) PADC-FCF-UNESP Fundação para o Desenvolvimento da UNESP (FUNDUNESP) Guava (Psidium guajava L.) is a native fruit of the American tropics with commercial applications for its taste, flavor and aroma. Numerous pharmacological uses have been described for it, such as the antiseptic effect of it…

0301 basic medicineAntioxidantP. guajava L./use in cosmeticsmedicine.medical_treatmentlcsh:RS1-44101 natural scienceslcsh:Pharmacy and materia medica03 medical and health scienceschemistry.chemical_compoundmedicineOrganic chemistryFood scienceGeneral Pharmacology Toxicology and PharmaceuticsP.guajava L./use in cosmeticsAromaFlavorPsidiumP. guajava L./antioxidant/chemical compositionABTSbiologyP.guajava L./antioxidant/chemical compositionP.guajava L./phytochemistrybiology.organism_classificationFree radical scavengerP.guajava L/chemical stabilityHigh Performance Liquid Chromatography0104 chemical sciences010404 medicinal & biomolecular chemistry030104 developmental biologychemistryP. guajava L./phytochemistryQuercetinKaempferolP. guajava L/chemical stability
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Potential benefits of high-added-value compounds from aquaculture and fish side streams on human gut microbiota

2021

Background: Human gut microbiota dysbiosis has been linked to a higher risk of non-communicable diseases (NCDs) such us inflammatory disorders, allergy and obesity. Specific dietary strategies, including the use of specific food supplements targeted to microbiota modulation, have been suggested to be especially relevant in reducing the risk of NCDs. In this regard, marine environment is considered as a pivotal source of nutrients and bioactive compounds such as polyunsaturated fatty acids, polysaccharides and active peptides. These compounds, including algae- (alginate, fucoidan) and animal-derived polysaccharides (chitin, chitosan), among others, have been widely studied. The use of these …

0301 basic medicineAquatic lifeGut microbiotaGut floraFats03 medical and health sciencesHuman healthHuman gutAquaculturePolysaccharidesmedicineFood science2. Zero hungerchemistry.chemical_classification030109 nutrition & dieteticsbiologybusiness.industryProteinmedicine.diseasebiology.organism_classification3. Good healthSide streams030104 developmental biologychemistry13. Climate actionFish <Actinopterygii>businessDysbiosisFood ScienceBiotechnologyPolyunsaturated fatty acid
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Half a Century of Research on Membrane-Containing Bacteriophages: Bringing New Concepts to Modern Virology

2019

Half a century of research on membrane-containing phages has had a major impact on virology, providing new insights into virus diversity, evolution and ecological importance. The recent revolutionary technical advances in imaging, sequencing and lipid analysis have significantly boosted the depth and volume of knowledge on these viruses. This has resulted in new concepts of virus assembly, understanding of virion stability and dynamics, and the description of novel processes for viral genome packaging and membrane-driven genome delivery to the host. The detailed analyses of such processes have given novel insights into DNA transport across the protein-rich lipid bilayer and the transformati…

0301 basic medicineArchaeal VirusesModels Molecularcorticoviridaeviruksetviruses030106 microbiologyPopulationlcsh:QR1-502lipid-containing bacteriophagevirus–host interactionReviewGenomeViruslcsh:MicrobiologybakteriofagitEvolution Molecular03 medical and health sciencesViral genome packagingplasmaviridaetectiviridaeVirologyBacteriophage PRD1Bacteriophageseducationvirus evolutioneducation.field_of_studyMembranesbiologyvirus-host interactionVirus Assemblyta1183Virionta1182Archaeal Virusescystoviridaebiology.organism_classificationVirology030104 developmental biologyInfectious DiseasesPlasmaviridaeCapsidViral evolutionDNA ViralCapsid ProteinsViruses
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Virus found in a boreal lake links ssDNA and dsDNA viruses.

2017

Viruses have impacted the biosphere in numerous ways since the dawn of life. However, the evolution, genetic, structural, and taxonomic diversity of viruses remain poorly understood, in part because sparse sampling of the virosphere has concentrated mostly on exploring the abundance and diversity of dsDNA viruses. Furthermore, viral genomes are highly diverse, and using only the current sequence-based methods for classifying viruses and studying their phylogeny is complicated. Here we describe a virus, FLiP (Flavobacterium-infecting, lipid-containing phage), with a circular ssDNA genome and an internal lipid membrane enclosed in the icosahedral capsid. The 9,174-nt-long genome showed limite…

0301 basic medicineBACTERIALviruksetProtein ConformationviruseslipiditGenomechemistry.chemical_compoundProtein structureBINDINGVIRAL UNIVERSE1183 Plant biology microbiology virologyGeneticsMultidisciplinaryCRYOELECTRON MICROSCOPYBiological Sciencesboreaalinen vyöhykeCapsidViral evolutionCAPSID PROTEINLineage (genetic)030106 microbiologyGENOMESDNA Single-Strandedcryo-electron microscopyGenome ViralBiologyPROTEIN STRUCTURESjärvetFlavobacteriumVirusbakteriofagitlipids03 medical and health sciencesCapsidPhylogeneticsBacteriophage PRD1structuregenometa1182DNA VirusesDNAEVOLUTIONLakes030104 developmental biologychemistryperimäCapsid ProteinsCOMMUNITIESDNAProceedings of the National Academy of Sciences of the United States of America
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Pesticide residues in honey bees, pollen and beeswax: Assessing beehive exposure

2018

In order to study the distribution of pesticide residues in beekeeping matrices, samples of live in-hive worker honey bees (Apis mellifera), fresh stored pollen and beeswax were collected during 2016–2017 from 45 apiaries located in different landscape contexts in Spain. A total of 133 samples were screened for 63 pesticides or their degradation products to estimate the pesticide exposure to honey bee health through the calculation of the hazard quotient (HQ). The influence of the surrounding environment on the content of pesticides in pollen was assessed by comparing the concentrations of pesticide residues found in apiaries from intensive farming landscapes to those found in apiaries loca…

0301 basic medicineBeekeepingApiaryHealth Toxicology and Mutagenesis010501 environmental sciencesBiologyToxicology01 natural sciencesBeeswaxHoney beesFluvalinateToxicology03 medical and health scienceschemistry.chemical_compoundPyrethrinsAnimalsBeeswaxPesticides0105 earth and related environmental sciencesBeehivePesticide residuePesticide Residuesfood and beveragesAgricultureGeneral MedicineHoney beePesticideBeesPollutionPesticide030104 developmental biologychemistrySpainHive exposurevisual_artWaxesvisual_art.visual_art_mediumPollenBeekeeping
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