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showing 10 items of 10618 documents

Novel molecular markers of cardiovascular disease risk in type 2 diabetes mellitus

2021

Diabetes represents the leading risk factor for the development of cardiovascular disease (CVD). Chronic hyperglycemia and/or acute post-prandial changes in blood glucose determine an increase in reactive oxygen species (ROS), which play a fundamental role in endothelial dysfunction and in the nuclear transport of pro-atherogenic transcription factors that activate the "inflammasome". In addition, the glycemic alteration favors the formation and stabilization of atherosclerotic plaque through the mechanism of non-enzymatic glycation of different molecules, with the establishment of the so-called "advanced glycosylation end products" (AGE). Laboratory information provided by the level of bio…

0301 basic medicineBlood GlucoseNovel biomarkersDisease030204 cardiovascular system & hematologyBioinformatics03 medical and health scienceschemistry.chemical_compound0302 clinical medicineGlycationRisk FactorsDiabetes mellitusType 2 diabetes mellitusMedicineHumansEndothelial dysfunctionRisk factorMolecular BiologyGlycemicInflammationGlycationbusiness.industryType 2 Diabetes Mellitusmedicine.diseaseCardiovascular risk030104 developmental biologychemistryDiabetes Mellitus Type 2Cardiovascular DiseasesOxidative stressMolecular MedicineAdvanced glycation end-productbusinessReactive Oxygen SpeciesBiomarkers
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Impaired Platelet Function in Sept8-Deficient Mice In Vitro.

2020

AbstractSeptins (Septs) are a widely expressed protein family of 13 mammalian members, recognized as a unique component of the cytoskeleton. In human platelets, we previously described that SEPT4 and SEPT8 are localized surrounding α-granules and move to the platelet surface after activation, indicating a possible role in platelet physiology. In this study, we investigated the impact of Sept8 on platelet function in vitro using Sept8-deficient mouse platelets. Deletion of Sept8 in mouse platelets caused a pronounced defect in activation of the fibrinogen receptor integrin αIIbβ3, α-granule exocytosis, and aggregation, especially in response to the glycoprotein VI agonist convulxin. In contr…

0301 basic medicineBlood PlateletsGenotypePlatelet AggregationFibrinogen receptorIntegrinPlatelet Glycoprotein GPIIb-IIIa Complex030204 cardiovascular system & hematologyFibrinogenCytoplasmic GranulesExocytosisExocytosis03 medical and health sciences0302 clinical medicineLysosomeCrotalid VenomsmedicineAnimalsPlateletLectins C-TypeLactadherinMice KnockoutbiologyChemistryThrombinFibrinogenConvulxinHematologyPlatelet ActivationCell biologyMice Inbred C57BL030104 developmental biologymedicine.anatomical_structurePhenotypebiology.proteinFemaleLysosomesSeptinsmedicine.drugThrombosis and haemostasis
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Angiotensin II type 1 receptor antagonists in animal models of vascular, cardiac, metabolic and renal disease

2016

AbstractWe have reviewed the effects of angiotensin II type 1 receptor antagonists (ARBs) in various animal models of hypertension, atherosclerosis, cardiac function, hypertrophy and fibrosis, glucose and lipid metabolism, and renal function and morphology. Those of azilsartan and telmisartan have been included comprehensively whereas those of other ARBs have been included systematically but without intention of completeness. ARBs as a class lower blood pressure in established hypertension and prevent hypertension development in all applicable animal models except those with a markedly suppressed renin–angiotensin system; blood pressure lowering even persists for a considerable time after d…

0301 basic medicineBlood Pressure030204 cardiovascular system & hematologyKidneyurologic and male genital diseasesBenzoatesAnimals Genetically ModifiedRenin-Angiotensin SystemGene Knockout Techniques0302 clinical medicineAzilsartanPharmacology (medical)TelmisartanOxadiazolesKidneybiologyStrokemedicine.anatomical_structureCardiovascular DiseasesHypertensionDrug Therapy Combinationmedicine.drugmedicine.medical_specialty03 medical and health sciencesMetabolic DiseasesCulture TechniquesInternal medicineRenin–angiotensin systemmedicineAnimalsHumansAntihypertensive AgentsPharmacologyAngiotensin II receptor type 1business.industryAngiotensin-converting enzymeAtherosclerosisLipid Metabolismmedicine.diseaseDisease Models AnimalGlucose030104 developmental biologyBlood pressureEndocrinologyPathophysiology of hypertensionbiology.proteinBenzimidazolesEndothelium VascularTelmisartanbusinessAngiotensin II Type 1 Receptor BlockersPharmacology & Therapeutics
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The role of CD40 and CD40L in bone mineral density and in osteoporosis risk: A genetic and functional study.

2015

Compelling data are revealing that the CD40/CD40L system is involved in bone metabolism. Furthermore, we have previously demonstrated that polymorphisms in both genes are associated with bone phenotypes. The aim of this study is to further characterize this association and to identify the causal functional mechanism. We conducted an association study of BMD with 15 SNPs in CD40/CD40L genes in a population of 779 women. In addition, we assessed the functionality of this association through the study of the allele-dependent expression of CD40 and CD40L in peripheral blood leukocytes (PBLs) and in human osteoblasts (OBs) obtained from bone explants by qPCR and by sequencing. When an allelic im…

0301 basic medicineBone densityTranscription GeneticPhysiologyEndocrinology Diabetes and MetabolismInheritance PatternsCohort Studies0302 clinical medicineBone DensityGenes ReporterRisk FactorsPromoter Regions GeneticGeneticseducation.field_of_studyhemic and immune systemsMethylationMiddle AgedPhenotypeDNA methylationFemalemusculoskeletal diseasesmedicine.medical_specialtyHistologyPopulationCD40 Ligand030209 endocrinology & metabolismSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideBone and Bones03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseAlleleCD40 AntigenseducationAllelesGenetic Association StudiesGenetic associationModels GeneticOsteoprotegerinPromoterDNA Methylation030104 developmental biologyEndocrinologySpainOsteoporosisCpG IslandsBone
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Refining the genetic structure and relationships of European cattle breeds through meta-analysis of worldwide genomic SNP data, focusing on Italian c…

2020

AbstractThe availability of genotyping assays has allowed the detailed evaluation of cattle genetic diversity worldwide. However, these comprehensive studies did not include some local European populations, including autochthonous Italian cattle. In this study, we assembled a large-scale, genome-wide dataset of single nucleotide polymorphisms scored in 3,283 individuals from 205 cattle populations worldwide to assess genome-wide autozygosity and understand better the genetic relationships among these populations. We prioritized European cattle, with a special focus on Italian breeds. Moderate differences in estimates of molecular inbreeding calculated from runs of homozygosity (FROH) were o…

0301 basic medicineBoviniGenotypePopulation geneticslcsh:MedicineGenome-wide association studyBiologyRuns of HomozygosityBiodiversità zootecnicaPolymorphism Single NucleotideBiodiversità zootecnica bovini miglioramento geneticoArticleLinkage DisequilibriumSettore AGR/17 - Zootecnica Generale E Miglioramento Genetico03 medical and health sciences0302 clinical medicineMeta-Analysis as TopicAnimalsInbreedingDomesticationlcsh:ScienceGenotypingPhylogenyAnimal breedingGenetic diversityboviniMultidisciplinarylcsh:RHomozygotebiology.organism_classificationCattle breeds genetic diversity SNPs.Europe030104 developmental biologyItalyEvolutionary biologyGenetic structuremiglioramento geneticolcsh:QCattleInbreeding030217 neurology & neurosurgeryGenome-Wide Association StudyScientific Reports
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Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

2020

OBJECTIVE Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Five genes were reported as PFBC causative when carrying pathogenic variants. Haploinsufficiency of SLC20A2, which encodes an inorganic phosphate importer, is a major cause of autosomal-dominant PFBC. However, PFBC remains genetically unexplained in a proportion of patients, suggesting the existence of additional genes or cryptic mutations. We analyzed exome sequencing data of 71 unrelated, genetically unexplained PFBC patients with the aim to detect copy number variations that may disrupt the expression of core PFBC-causing genes. METHODS Afte…

0301 basic medicineBrain DiseasesDNA Copy Number VariationsSodium-Phosphate Cotransporter Proteins Type IIIHEK 293 cellsBrainHaploinsufficiencyBiologyMolecular biologyReverse transcriptase03 medical and health sciencesHEK293 Cells030104 developmental biology0302 clinical medicineNeurologyMutationHumansNeurology (clinical)Copy-number variationAlleleHaploinsufficiencyEnhancerGene030217 neurology & neurosurgeryExome sequencingMovement Disorders
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IL-17A/F in Leishmania major-resistant C57BL/6 mice.

2019

Proinflammatory IL-17 plays an important role in various diseases and defence against extracellular microorganisms. Healing of leishmaniasis is promoted by Th1/Tc1 cells, whereas Th2/Treg are associated with worsened disease outcome. In addition, high expression of IL-17A in Leishmania-susceptible BALB/c and artificial overexpression of IL-17A in T cells in resistant C57BL/6 mice worsened disease outcome. Since C57BL/6 mice lacking only IL-17A exhibited no phenotype, and IL-17A and IL-17F share similar receptors, but differentially regulate chemokine secretion, we studied mice lacking both IL-17A and IL-17F (IL-17A/F-/- ) in infections with Leishmania major. Interestingly, lesion volumes an…

0301 basic medicineC57BL/6CD4-Positive T-LymphocytesMaleDermatologyBiochemistryProinflammatory cytokineLesion030207 dermatology & venereal diseases03 medical and health sciencesMice0302 clinical medicineTh2 CellsmedicineAnimalsSecretionLeishmania majorReceptorMolecular BiologyIntraepithelial LymphocytesLeishmaniasisCrosses GeneticLeishmaniaMice Inbred BALB CbiologyInterleukin-17Th1 Cellsbiology.organism_classificationPhenotypeMice Inbred C57BL030104 developmental biologyPhenotypeChemokine secretionImmunologyDisease ProgressionCytokinesFemalemedicine.symptomExperimental dermatology
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Circulating exosomes deliver free fatty acids from the bloodstream to cardiac cells: Possible role of CD36

2019

Regulation of circulating free fatty acid (FFA) levels and delivery is crucial to maintain tissue homeostasis. Exosomes are nanomembranous vesicles that are released from diverse cell types and mediate intercellular communication by delivering bioactive molecules. Here, we sought to investigate the uptake of FFAs by circulating exosomes, the delivery of FFA-loaded exosomes to cardiac cells and the possible role of the FFA transporter CD36 in these processes. Circulating exosomes were purified from the serum of healthy donors after an overnight fast (F) or 20 minutes after a high caloric breakfast (postprandial, PP). Western blotting, Immunogold Electron Microscopy and FACS analysis of circu…

0301 basic medicineCD36 AntigensMaleLuminescenceCD36Mice SCIDFatty Acids NonesterifiedExosomesBiochemistryFatsMiceSpectrum Analysis TechniquesAnimal CellsMice Inbred NODMedicine and Health SciencesMyocytes CardiacTissue homeostasischemistry.chemical_classificationCardiomyocytesMultidisciplinarybiologymedicine.diagnostic_testPhysicsElectromagnetic RadiationQFatty AcidsRHeartFlow CytometryLipidsCell biologyBlotSpectrophotometryPhysical SciencesMedicinelipids (amino acids peptides and proteins)FemaleCytophotometryCellular Structures and OrganellesAnatomyCellular TypesResearch ArticleAdultScienceMuscle TissueResearch and Analysis MethodsFluorescenceFlow cytometryCell Line03 medical and health sciencesIn vivomedicineDiabetes MellitusAnimalsHumansVesiclesObesityRats WistarMuscle Cells030102 biochemistry & molecular biologyFatty acidBiology and Life SciencesCell BiologyAtherosclerosisMicrovesiclesDisease Models Animal030104 developmental biologyBiological Tissuechemistrybiology.proteinCardiovascular AnatomyEx vivoPLoS ONE
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CD36 gene is associated with intraocular pressure elevation after intravitreal application of anti-VEGF agents in patients with age-related macular d…

2017

IF 1.886; International audience; Background: The wet form of age-related macular degeneration (AMD) is characterized by pathological vascularization of the outer retinal layers. The condition responds to treatment with antibodies against vascular endothelial growth factor (VEGF), but the patients receiving such anti-VEGF therapy sometimes show undesirable acute short-term increases in the intraocular pressure (IOP). The cause of this adverse effect is unknown, and here, we are testing a hypothesis that it is related to CD36 gene polymorphisms.Materials and Methods: A group of 134 patients with AMD were given three therapeutic doses of anti-VEGF antibody (ranibizumab) at monthly intervals. …

0301 basic medicineCD36 AntigensMaleVascular Endothelial Growth Factor AIntraocular pressuregenetic structuresreceptorGlaucomaAngiogenesis InhibitorsthrombospondinPolymerase Chain Reactionpolymorphismchemistry.chemical_compound0302 clinical medicineGenotypeGenetics (clinical)Schlemm´s canalVascular endothelial growth factorIntravitreal InjectionsFemalemedicine.drugmedicine.medical_specialtyPolymorphism Single Nucleotide03 medical and health sciencesTonometry Ocular[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyOphthalmologyRanibizumabmedicineHumansAdverse effectIntraocular PressureAgedbusiness.industryGlaucomaRetinalMacular degenerationmedicine.diseaseeye diseasesOphthalmology030104 developmental biologychemistryPediatrics Perinatology and Child Health030221 ophthalmology & optometryWet Macular DegenerationOcular Hypertensionsense organsRanibizumabbusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyOphthalmic genetics
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HLA-DPB1 mismatch alleles represent powerful leukemia rejection antigens in CD4 T-cell immunotherapy after allogeneic stem-cell transplantation.

2016

Refractory or relapsed acute myeloid leukemia (AML) represents a frequent complication after allogeneic hematopoietic stem-cell transplantation (HSCT). We show herein that primary in vitro stimulation of CD45RA-selected CD4 T cells of stem-cell donors with 10/10 HLA-matched AML blasts results in expansion of cytolytic T-lymphocytes (CTL) that almost all recognize HLA-DPB1 mismatch alleles, which clinically occur in up to 80% of donor-patient pairs. Primary AML blasts were found to strongly express HLA-DPB1, whereas fibroblasts and keratinocytes used as surrogate target cells for graft-versus-host disease did express HLA-DPB1 only upon IFN-γ pre-treatment. Since patients' AML blasts are rare…

0301 basic medicineCD4-Positive T-LymphocytesCytotoxicity ImmunologicCancer ResearchAdoptive cell transferGenotypemedicine.medical_treatmentHematopoietic stem cell transplantationBiologyLymphocyte ActivationImmunotherapy Adoptive03 medical and health sciencesMice0302 clinical medicinehemic and lymphatic diseasesmedicineAnimalsHumansTransplantation HomologousAllelesHLA-DP beta-ChainsLeukemiaHematopoietic Stem Cell TransplantationMyeloid leukemiaHematologyImmunotherapymedicine.diseaseTissue DonorsTransplantationCTL*LeukemiaLeukemia Myeloid Acute030104 developmental biologyOncologyImmunologyFemaleImmunotherapyStem cell030215 immunologyLeukemia
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