Search results for "43"

showing 10 items of 1438 documents

Gene Expression and Apoptosis Levels in Cumulus Cells of Patients with Polymorphisms of FSHR and LHB Undergoing in Vitro Fertilization Program

2017

Background/Aims: FSH receptor (FSHR) Ala307Thr and Asn680Ser and LHβ chain (LHB) Trp28Arg and Ile35Thr polymorphisms affect the response to pharmacological ovarian stimulation with r-FSH in women undergoing assisted reproductive treatment (ART). Here, we evaluated the expression level of selected genes involved in follicle maturation and the possible onset of apoptosis in cumulus cells of patients with single and double FSHR and LHB polymorphisms, as potential markers of oocyte competence. Methods: Cumulus cells from 36 stimulated patients were collected and SNP genotyping performed by PCR. Gene expression was evaluated through real-time PCR, and apoptosis estimated via TUNEL assay, and cle…

0301 basic medicineApoptosis; Cumulus cells; FSHR; Gene expression; LH; Polymorphism; PhysiologyLHPhysiologyApoptosislcsh:PhysiologyGonadotropin-Releasing Hormone0302 clinical medicineGene FrequencyFSHRGene expressionlcsh:QD415-436Settore BIO/06 - Anatomia Comparata E CitologiaCells CulturedIn Situ Hybridization Fluorescence030219 obstetrics & reproductive medicinelcsh:QP1-981Caspase 3Apoptosis; Cumulus cells; FSHR; Gene expression; LH; Polymorphismmedicine.anatomical_structureCumulus cellReceptors FSHDNA fragmentationFemaleSignal TransductionAdultHeterozygotemedicine.medical_specialtyendocrine systemGenotypeGranulosa cellCumulus cellsDNA FragmentationFertilization in VitroBiologyReal-Time Polymerase Chain ReactionBuserelinPolymorphism Single Nucleotidelcsh:Biochemistry03 medical and health sciencesFollicleInternal medicinemedicineHumansPolymorphismApoptosiHeterozygote advantageLuteinizing Hormone beta SubunitOocyte030104 developmental biologyEndocrinologyHaplotypesApoptosisMultivariate AnalysisOocytesGene expressionFollicle-stimulating hormone receptorProto-Oncogene Proteins c-aktCellular Physiology and Biochemistry
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Simultaneous lipidomic and transcriptomic profiling in mouse brain punches of acute epileptic seizure model compared to controls

2018

In this study, we report the development of a dual extraction protocol for RNA and lipids, including phospholipids, endocannabinoids, and arachidonic acid, at high spatial resolution, e.g., brain punches obtained from whole frozen brains corresponding to four brain subregions: dorsal hippocampus, ventral hippocampus, basolateral amygdala, and hypothalamus. This extraction method combined with LC/multiple reaction monitoring for lipid quantification and quantitative PCR for RNA investigation allows lipidomic and transcriptomic profiling from submilligram amounts of tissue, thus benefiting the time and animal costs for analysis and the data reliability due to prevention of biological variabil…

0301 basic medicineBiochemistryTranscriptomechemistry.chemical_compoundEpilepsyMice0302 clinical medicineEndocrinologyTEMPORAL-LOBE EPILEPSYResearch Articlesmass spectrometrymessenger ribonucleic acidKainic AcidBrainNEUROLOGICAL DISORDERSQUANTITATIVE-ANALYSISEndocannabinoid systemLipidsCell biologyReal-time polymerase chain reactionmedicine.anatomical_structureAcute DiseaseArachidonic acidEpileptic seizuremedicine.symptomACID-INDUCED SEIZURESQD415-436BiologyMEMBRANE PHOSPHOLIPIDSENDOCANNABINOID SYSTEM03 medical and health sciencesCYTOPLASMIC PHOSPHOLIPASE A(2)SeizuresmedicineAnimalsendocannabinoidsphospholipidsGene Expression ProfilingRNACell BiologyMASS-SPECTROMETRYmedicine.diseaseDisease Models Animal030104 developmental biologychemistrynervous systemepilepsyLYSOPHOSPHATIDIC ACID030217 neurology & neurosurgeryTERT-BUTYL ETHERBasolateral amygdala
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Anti-Inflammatory Activity of Citrus bergamia Derivatives: Where Do We Stand?

2016

Inflammatory diseases affect a large portion of the worldwide population, and chronic inflammation is a major risk factor for several dangerous pathologies. To limit the side effects of both synthetic and biological anti-inflammatory drugs, the use of herbal medicines, nutraceuticals and food supplements has increased tremendously as alternative and/or complementary medicine to treat several pathologies, including inflammation. During the last decades, the biological properties of Citrus bergamia (bergamot) derivatives have obtained important scientific achievements, and it has been suggested their use in a context of a multitarget pharmacological strategy. Here, we present an overview of t…

0301 basic medicineCitrusnatural productsAnti-Inflammatory AgentsCitruantioxidant activityPharmaceutical SciencebergamotReviewPharmacologyAnalytical Chemistry0302 clinical medicinecomplementary and alternative medicinesDrug DiscoveryCitrus bergamiaeducation.field_of_studyTraditional medicineMedicine (all)3. Good healthAnti-Inflammatory AgentChemistry (miscellaneous)030220 oncology & carcinogenesisMolecular MedicineComplementary medicineHumanmedicine.drug_classHerbal MedicinePopulationContext (language use)Natural productAnti-inflammatoryPlant ExtractAntioxidant activity; Bergamot; Citrus bergamia; Complementary and alternative medicines; Flavonoids; Inflammation; Natural products; Anti-Inflammatory Agents; Citrus; Herbal Medicine; Humans; Inflammation; Plant Extracts; Organic Chemistrylcsh:QD241-44103 medical and health sciencesNutraceuticallcsh:Organic chemistrySettore MED/43 - Medicina LegaleBiological propertymedicineHumansPhysical and Theoretical ChemistryeducationAntioxidant activity Bergamot Citrus bergamia Complementary and alternative medicines Flavonoids Inflammation Natural products Medicine (all);Plant Extractsbusiness.industryOrganic Chemistry030104 developmental biologyComplementary and alternative medicineinflammationflavonoidsCitrus bergamiaFlavonoidSettore BIO/14 - FarmacologiabusinessMolecules
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Loss of ISWI Function in Drosophila Nuclear Bodies Drives Cytoplasmic Redistribution of Drosophila TDP-43

2018

Over the past decade, evidence has identified a link between protein aggregation, RNA biology, and a subset of degenerative diseases. An important feature of these disorders is the cytoplasmic or nuclear aggregation of RNA-binding proteins (RBPs). Redistribution of RBPs, such as the human TAR DNA-binding 43 protein (TDP-43) from the nucleus to cytoplasmic inclusions is a pathological feature of several diseases. Indeed, sporadic and familial forms of amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration share as hallmarks ubiquitin-positive inclusions. Recently, the wide spectrum of neurodegenerative diseases characterized by RBPs functions’ alteration and loss was coll…

0301 basic medicineCytoplasmCytoplasmic inclusionFluorescent Antibody TechniqueProtein aggregationHeterogeneous ribonucleoprotein particleHeterogeneous-Nuclear Ribonucleoproteinslcsh:Chemistry0302 clinical medicineDrosophila Proteinsneurodegenerative diseasesnuclear bodylcsh:QH301-705.5SpectroscopyGeneral MedicinehnRNPsComputer Science ApplicationsCell biologyChromatinTransport proteinDNA-Binding ProteinsProtein Transportmedicine.anatomical_structureDrosophilaDrosophila ProteinProtein BindingImitation SWIBiologyCatalysisArticleInorganic Chemistryomega speckles03 medical and health sciencesmedicineAnimalsPhysical and Theoretical ChemistryMolecular BiologyGenetic Association StudiesCell NucleusOrganic Chemistryta1182Chromatin Assembly and DisassemblyCell nucleus030104 developmental biologylcsh:Biology (General)lcsh:QD1-999gene expression<i>Drosophila</i>; nuclear body; omega speckles; dTDP-43; hnRNPs; omega speckles; neurodegenerative diseases; gene expression; gene regulationdTDP-43gene regulation030217 neurology & neurosurgeryInternational Journal of Molecular Sciences
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Genetic association study of childhood aggression across raters, instruments, and age

2021

AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three sign…

0301 basic medicineDISORDER/45/43Genome-wide association study3124 Neurology and psychiatry0302 clinical medicineChildPsychiatry0303 health sciences:trastornos mentales [PSIQUIATRÍA Y PSICOLOGÍA]HERITABILITYMental DisordersCognitionGenomicsExplained variationJustice and Strong InstitutionsAggressionPsychiatry and Mental healthMeta-analysisADOLESCENCEChild Preschool:conducta y mecanismos de la conducta::conducta::síntomas conductuales::agresión [PSIQUIATRÍA Y PSICOLOGÍA]/631/208/212/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleBiological psychiatrymedicine.symptomLife Sciences & Biomedicine:Investigative Techniques::Genetic Techniques::Genetic Association Studies [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT]BEHAVIORRC321-571Childhood aggressionClinical psychologySDG 16 - PeaceAdolescent:Mental Disorders [PSYCHIATRY AND PSYCHOLOGY]Neurosciences. Biological psychiatry. NeuropsychiatrySingle-nucleotide polymorphismBiology3121 Internal medicineMalalties mentals - Aspectes genèticsGenetic correlationArticle1117 Public Health and Health ServicesCellular and Molecular Neuroscience03 medical and health sciences/631/477/2811SDG 3 - Good Health and Well-beingHuman behaviourmedicineSNPHumansGENOME-WIDE ASSOCIATIONBiological PsychiatryGenetic Association Studies030304 developmental biologyGenetic associationRetrospective Studies:técnicas de investigación::técnicas genéticas::estudios de asociación genética [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS]Science & TechnologyAggressionSDG 16 - Peace Justice and Strong InstitutionsInfant:Behavior and Behavior Mechanisms::Behavior::Behavioral Symptoms::Aggression [PSYCHIATRY AND PSYCHOLOGY]1103 Clinical SciencesAgressivitat en els infantsHeritability/dk/atira/pure/sustainabledevelopmentgoals/peace_justice_and_strong_institutions030104 developmental biology1701 PsychologyORIGINSResearch Programm of Donders Centre for Neuroscience3111 BiomedicineTRAJECTORIES030217 neurology & neurosurgeryDemographyGenome-Wide Association Study
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Allele frequencies distribution of 16 forensic STR loci in a Western Sicilian population sample

2017

Abstract The PowerPlex® ESI 17 Fast and ESX 17 Fast Systems represent faster cycling versions released by Promega® to follow the requirements of ENFSI and EDNAP groups’ for new STR genotyping systems in Europe. Allele frequencies and forensic parameters were estimated in a population sample of 120 unrelated healthy individuals living in Sicily (Western Sicilian population sample) using PowerPlex® ESI 17 Fast and PowerPlex® 17 Fast Systems. Full concordance of the results for both systems was observed. No significant deviation from Hardy-Weinberg equilibrium was detected. The observed heterozygosity changed from 0.85833 for FGA to 0.95 for TH01. The combined power of discrimination for the 1…

0301 basic medicineDNA databaseHealth (social science)Population sampleConcordance2734BiologyStrPathology and Forensic MedicineAllele frequenciePowerPlexLoss of heterozygosity03 medical and health sciencesSettore MED/43 - Medicina LegaleItalian populationlcsh:Law in general. Comparative and uniform law. JurisprudenceGenotypingAllele frequencyGeneticslcsh:R5-920Allele frequencies; DNA database; Italian population; PowerPlex; Str; 2734; Health (social science); LawAllele frequencieslanguage.human_languageForensic science030104 developmental biologylcsh:K1-7720Str locilanguagelcsh:Medicine (General)SicilianLaw
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beta-Adrenoceptor-mediated Relaxation of Urinary Bladder Muscle in beta 2-Adrenoceptor Knockout Mice

2016

Background and Objective. In order to characterize the β-adrenoceptor (AR) subtypes involved in agonist-stimulated relaxation of murine urinary bladder we studied the effects of (-)-isoprenaline and CL 316,243 on tonic contraction and spontaneous contractions in detrusor strips of wild-type (WT) and β2-AR knockout (β2-AR KO) mice. Materials and Methods. Urinary bladders were isolated from male WT and β2-AR KO mice. β-AR subtype expression was determined with quantitative real-time PCR. Intact muscle strips pre-contracted with KCl (40 mM) were exposed to cumulatively increasing concentrations of (-)-isoprenaline or β3-AR agonist CL 316,243 in the presence and absence of the subtype-selective…

0301 basic medicineDetrusor muscleAgonistmedicine.medical_specialtyAdrenergic receptormedicine.drug_class030232 urology & nephrology03 medical and health sciences0302 clinical medicinerelaxationInternal medicineIsoprenalinemedicinePotencyPharmacology (medical)ddc:610ReceptorCL 316243mucosaOriginal ResearchPharmacologyisoprenalineUrinary bladderChemistryβ3-adrenoceptorsdetrusor muscle030104 developmental biologymedicine.anatomical_structureEndocrinologyKnockout mouseβ2-adrenoceptor knockoutmedicine.drug
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7-Keto-Cholesterol and Cholestan-3beta, 5alpha, 6beta-Triol Induce Eryptosis through Distinct Pathways Leading to NADPH Oxidase and Nitric Oxide Synt…

2019

Background/aims We showed that patho-physiological concentrations of either 7-keto-cholesterol (7-KC), or cholestane-3beta, 5alpha, 6beta-triol (TRIOL) caused the eryptotic death of human red blood cells (RBC), strictly dependent on the early production of reactive oxygen species (ROS). The goal of the current study was to assess the contribution of the erythrocyte ROS-generating enzymes, NADPH oxidase (RBC-NOX), nitric oxide synthase (RBC-NOS) and xanthine oxido-reductase (XOR) to the oxysterol-dependent eryptosis and pertinent activation pathways. Methods Phosphatidylserine exposure at the cell surface was estimated from annexin-V-binding, reactive oxygen/nitrogen species (RONS) and nitri…

0301 basic medicineErythrocytesPhysiologyEryptosisNADPH Oxidaselcsh:PhysiologyMethemoglobinHemoglobinsPhosphatidylinositol 3-Kinaseschemistry.chemical_compound0302 clinical medicinelcsh:QD415-436RBC-NOS activationKetocholesterolsHemechemistry.chemical_classificationNADPH oxidaselcsh:QP1-981biologyrac GTP-Binding ProteinsCholestanolErythrocyteNitric oxide synthaseRac GTP-Binding ProteinsRBC-NOX activationToxic oxysterolBiochemistry030220 oncology & carcinogenesisOxidation-ReductionHumanSignal Transductioncirculatory and respiratory physiologyOxidative phosphorylationlcsh:BiochemistryNitrosative stre03 medical and health sciencesHumansHemoglobinReactive oxygen speciesKetocholesterolNADPH Oxidases030104 developmental biologychemistrybiology.proteinTriolPhosphatidylinositol 3-KinaseNitric Oxide SynthaseEryptosiProto-Oncogene Proteins c-aktCholestanolsCellular Physiology and Biochemistry
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An evolutionary perspective on the role of mesencephalic astrocyte-derived neurotrophic factor (MANF): At the crossroads of poriferan innate immune a…

2017

The mesencephalic astrocyte-derived neurotrophic factor (MANF) belongs to a recently discovered family of neurotrophic factors. MANF can be secreted but is generally resident within the endoplasmic reticulum (ER) in neuronal and non-neuronal cells, where it is involved in the ER stress response with pro-survival effects. Here we report the discovery of the MANF homolog SDMANF in the sponge Suberites domuncula. The basal positioning of sponges (phylum Porifera) in the animal tree of life offers a unique vantage point on the early evolution of the metazoan-specific genetic toolkit and molecular pathways. Since sponges lack a conventional nervous system, SDMANF presents an enticing opportunity…

0301 basic medicineEvolutionBiophysicsApoptosisBiologyBiochemistrylcsh:Biochemistry03 medical and health sciencesNeurotrophic factorslcsh:QD415-436lcsh:QH301-705.5MANFInnate immunityInnate immune systemEndoplasmic reticulumbiology.organism_classificationTransport inhibitorCell biologyPoriferaSuberites domuncula030104 developmental biologylcsh:Biology (General)Unfolded protein responsebiology.proteinER stressNeurotrophinSuberitesResearch ArticleBiochemistry and Biophysics Reports
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IL-33/IL-31 Axis: A Potential Inflammatory Pathway

2018

Cytokines play an important role in the regulation of the immune system (adaptive and innate). Given their importance in proinflammatory processes, cytokines have been used for understanding the pathogenesis and as biomarkers in many diseases. IL-31 and IL-33 are still considered novel cytokines. IL-31 controls signalling and regulates a huge amount of biological functions: it induces proinflammatory cytokines, regulates cell proliferation, and is involved also in tissue remodelling. On the other hand, IL-33 has been identified as an “alarmin” released from the epithelial cells and from different human tissues and organs after a damage following, that is, an inflammatory process. The aim of…

0301 basic medicineIL-33/IL-31 AxiImmunologyInflammationReview ArticleAdaptive ImmunityBiologyProinflammatory cytokinePathogenesis03 medical and health sciences0302 clinical medicineImmune systemSettore MED/43 - Medicina Legalelcsh:PathologymedicineAnimalsHumansIL-33/IL-31 Axis; Inflammatory PathwayInflammationAdaptive Immunity; Animals; Biomarkers; Humans; Inflammation; Interleukin-33; Interleukins; Immunology; Cell BiologyCell growthInterleukinsInterleukinCell BiologyInterleukin-33Acquired immune systemInflammatory PathwayInterleukin 33030104 developmental biologyImmunologymedicine.symptomBiomarkerslcsh:RB1-214030215 immunology
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