Search results for "ASES"

showing 10 items of 26804 documents

Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
researchProduct

Mild Parkinsonian Signs in a Hospital-based Cohort of Mild Cognitive Impairment Types: A Cross-sectional Study

2018

Background:Mild Parkinsonian Signs (MPS) have been associated with Mild Cognitive Impairment (MCI) types with conflicting results.Objective:To investigate the association of individual MPS with different MCI types using logistic ridge regression analysis, and to evaluate for each MCI type, the association of MPS with caudate atrophy, global cerebral atrophy, and the topographical location of White Matter Hyperintensities (WMH), and lacunes.Methods:A cross-sectional study was performed among 1,168 subjects with different types of MCI aged 45-97 (70,52 ± 9,41) years, who underwent brain MRI. WMH were assessed through two visual rating scales. The number and location of lacunes were also rated…

0301 basic medicineApolipoprotein EMalemedicine.medical_specialtyMild parkinsonian signsbehavioral disciplines and activitiesCohort Studies03 medical and health sciencesLateral ventricles0302 clinical medicineAtrophyParkinsonian DisordersRating scaleInternal medicinemental disordersmedicineDementiaHumansCognitive Dysfunctioncaudate atrophyProspective cohort studyAgedglobal cerebral atrophyCerebral atrophyAged 80 and overbusiness.industryMiddle Agedwhite matter hyperintensitiesmedicine.diseaseHyperintensitynervous system diseases030104 developmental biologyCross-Sectional StudiesNeurologyCardiologyFemaleNeurology (clinical)business030217 neurology & neurosurgery
researchProduct

Epilepsy in neuropathologically verified Alzheimer's disease.

2018

Abstract Purpose Subjects with Alzheimer's disease (AD) have been shown to be at a higher risk for epilepsy. The vast majority of the previous studies have not included a full neuropathological examination. Methods The objective of this study was to assess the prevalence of epilepsy and clinicopathological characteristics in a well-defined study group of 64 subjects with AD. We evaluated the clinicopathological findings in 64 subjects (mean age at death 85 ± 8.6 years) from a longitudi-nal study cohort of patients with dementia. Results Eleven out of the 64 subjects (17%) had a history of epilepsy, which is comparable to previous studies. The subjects with AD and epilepsy were significantly…

0301 basic medicineApolipoprotein EMalemedicine.medical_specialtyNeurologyTime FactorsalzheimerAutopsyNeuropathologyDiseaseAlzheimerin tauti03 medical and health sciencesEpilepsyautopsy0302 clinical medicineApolipoproteins EAlzheimer DiseaseInternal medicinemedicinePrevalenceDementiaHumansneurodegenerative diseasesLongitudinal Studiesta515ta316Aged 80 and overEpilepsybusiness.industryneurodegenerationAge FactorsBrainGeneral MedicineAlzheimer's diseasemedicine.diseaseneurodegeneratiiviset sairaudetHospitalization030104 developmental biologyNeurologyruumiinavausCohortFemaleNeurology (clinical)businessepilepsia030217 neurology & neurosurgerydementiaFollow-Up StudiesSeizure
researchProduct

Proteases, Protease-Activated Receptors, and Atherosclerosis

2018

Coagulation activation by the TF (tissue factor) pathway plays pivotal roles in triggering platelets and precipitating acute coronary syndromes. Although dual antiplatelet therapy is effective in secondary cardiovascular prevention, combining platelet antagonism with low-dose aspirin and the oral coagulation FXa antagonist rivaroxaban has a synergistic clinical benefit over monotherapy in preventing the composite outcome of cardiovascular death, stroke, or myocardial infarction.1 It is, therefore, of considerable interest to understand the roles of coagulation proteases and their cell signaling effects in the development of atherosclerosis and vascular inflammation. Acute thrombosis in anim…

0301 basic medicineApolipoprotein EProteasesReceptors Proteinase-Activated030204 cardiovascular system & hematologyArticleMice03 medical and health sciencesTissue factor0302 clinical medicineThrombinEndopeptidasesAnimalsReceptor PAR-2MedicinePlateletbusiness.industryArteriosclerosisAtherosclerosismedicine.diseaseThrombosis030104 developmental biologyCoagulationCancer researchCardiology and Cardiovascular MedicinebusinessPeptide Hydrolasesmedicine.drugArteriosclerosis, Thrombosis, and Vascular Biology
researchProduct

Novel iodoacetamido benzoheterocyclic derivatives with potent antileukemic activity are inhibitors of STAT5 phosphorylation

2016

Signal Transducer and Activator of Transcription 5 (STAT5) protein, a component of the STAT family of signaling proteins, is considered to be an attractive therapeutic target because of its involvement in the progression of acute myeloid leukemia. In an effort to discover potent molecules able to inhibit the phosphorylation-activation of STAT5, twenty-two compounds were synthesized and evaluated on the basis of our knowledge of the activity of 2-(3’,4’,5’-trimethoxybenzoyl)-3-iodoacetamido-6-methoxy benzo[b]furan derivative 1 as a potent STAT5 inhibitor. Most of these molecules, structurally related to compound 1, were characterized by the presence of a common 3’,4’,5’-trimethoxybenzoyl moi…

0301 basic medicineApoptosisAntineoplastic Agentchemistry.chemical_compoundBenzophenone0302 clinical medicinehemic and lymphatic diseasesFuranDrug DiscoverySTAT5 Transcription FactorTumor Cells CulturedThiopheneMoietyPhosphorylationSTAT5Molecular StructurebiologyChemistryBiological activityGeneral MedicineApoptosis; BCR/ABL expressing leukemia; In vitro antiproliferative activity; STAT5 inhibitors; Structure-activity relationship; Drug Discovery3003 Pharmaceutical Science; Organic Chemistry; PharmacologyLeukemia Myeloid Acute030220 oncology & carcinogenesisBCR/ABL expressing leukemiaApoptosis; BCR/ABL expressing leukemia; In vitro antiproliferative activity; STAT5 inhibitors; Structure-activity relationship; Antineoplastic Agents; Apoptosis; Benzofurans; Benzophenones; Cell Proliferation; Dose-Response Relationship Drug; Drug Screening Assays Antitumor; Humans; K562 Cells; Leukemia Myeloid Acute; Molecular Structure; Phosphorylation; STAT5 Transcription Factor; Structure-Activity Relationship; Tumor Cells Cultured; Drug Discovery3003 Pharmaceutical Science; Organic Chemistry; PharmacologyHumanStereochemistryAntineoplastic AgentsArticleNOBenzophenones03 medical and health sciencesK562 CellHumansStructure–activity relationshipBenzofuransCell ProliferationPharmacologyIndole testDose-Response Relationship DrugIn vitro antiproliferative activitySTAT5 inhibitorsDrug Discovery3003 Pharmaceutical ScienceOrganic ChemistryApoptosiSTAT5 inhibitorStructure-activity relationshipIn vitro030104 developmental biologybiology.proteinBenzofuranDrug Screening Assays AntitumorK562 Cells
researchProduct

Theabrownin triggersDNAdamage to suppress human osteosarcoma U2OScells by activating p53 signalling pathway

2018

Abstract Osteosarcoma becomes the second leading cause of cancer death in the younger population. Current outcomes of chemotherapy on osteosarcoma were unsatisfactory to date, demanding development of effective therapies. Tea is a commonly used beverage beneficial to human health. As a major component of tea, theabrownin has been reported to possess anti‐cancer activity. To evaluate its anti‐osteosarcoma effect, we established a xenograft model of zebrafish and employed U2OS cells for in vivo and in vitro assays. The animal data showed that TB significantly inhibited the tumour growth with stronger effect than that of chemotherapy. The cellular data confirmed that TB‐triggered DNA damage an…

0301 basic medicineApoptosisCatechinHistones0302 clinical medicineRNA Small InterferingZebrafisheducation.field_of_studyCaspase 3ChemistryCell CycleGene Expression Regulation NeoplasticLarva030220 oncology & carcinogenesisMolecular MedicineOsteosarcomaOriginal ArticlePoly(ADP-ribose) PolymerasesSignal TransductionCell SurvivalDNA damagePoly ADP ribose polymerasePopulationBone NeoplasmsCaspase 303 medical and health sciencesAnimal dataosteosarcomaCell Line TumormedicineAnimalsHumanstheabrownineducationP53OsteoblastsMesenchymal Stem CellsOriginal ArticlesCell Biologymedicine.diseaseAntineoplastic Agents PhytogenicXenograft Model Antitumor AssaysKi-67 Antigen030104 developmental biologyApoptosisCell cultureCancer researchDNA damageCisplatinTumor Suppressor Protein p53Journal of Cellular and Molecular Medicine
researchProduct

Total coumarins of Hedyotis diffusa induces apoptosis of myelodysplastic syndrome SKM-1 cells by activation of caspases and inhibition of PI3K/Akt pa…

2016

Abstract Ethnopharmacological relevance Hedyotis diffusa is an ethno-medicine used for anti-cancer treatment in the clinic of traditional Chinese medicine (TCM). The total coumarins of Hedyotis diffusa (TCHD) was a selected extract with observed antiproliferative activity, which has not been tested in treatment of myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML). Aim of the study This study aimed to evaluate the apoptosis-inducing effect of TCHD on human MDS cell line (SKM-1) and explore its action mechanism in association with caspase family and PI3K/Akt signaling pathway. Materials and methods The chemical constituents and total coumarins content of TCHD were determined by …

0301 basic medicineApoptosisPharmacologyCell LineHedyotis diffusa03 medical and health sciencesPhosphatidylinositol 3-Kinases0302 clinical medicineWestern blotCoumarinsDrug DiscoverymedicineHedyotisHumansMTT assayPI3K/AKT/mTOR pathwayCaspaseCells CulturedCell ProliferationPharmacologyHedyotismedicine.diagnostic_testbiologybusiness.industryAkt/PKB signaling pathwayMesenchymal Stem Cellsbiology.organism_classification030104 developmental biologyApoptosis030220 oncology & carcinogenesisCaspasesMyelodysplastic SyndromesImmunologybiology.proteinbusinessProto-Oncogene Proteins c-aktJournal of ethnopharmacology
researchProduct

Aggregation patterns of helminth populations in the introduced fish, Liza haematocheilus (Teleostei: Mugilidae): disentangling host–parasite relation…

2018

International audience; A number of hypotheses exist to explain aggregated distributions, but they have seldom been used to investigate differences in parasite spatial distribution between native and introduced hosts. We applied two aggregation models, the negative binomial distribution and Taylor's power law, to study the aggregation patterns of helminth populations from Liza haematocheilus across its native (Sea of Japan) and introduced (Sea of Azov) distribution ranges. In accordance with the enemy release hypothesis, we predicted that parasite populations in the introduced host range would be less aggregated than in the native host area, because aggregation is tightly constrained by abu…

0301 basic medicineAquatic Organisms030231 tropical medicinePopulationZoologyAbundance–variance relationshipsBiologySpatial distributionHost-Parasite InteractionsRussia03 medical and health sciencesFish Diseases0302 clinical medicineJapanAbundance (ecology)HelminthsParasite hostingAnimalsSeawater[SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology14. Life underwaterTaxonomic rankeducationComputingMilieux_MISCELLANEOUSPopulation DensityEnemy release hypothesiseducation.field_of_studyResistance (ecology)Host (biology)Repeatability analysisBiodiversitySmegmamorpha030104 developmental biologyInfectious DiseasesTaxonTaylor’s power law.ParasitologyNegative binomial distributionHelminthiasis Animal[SDV.EE.IEO]Life Sciences [q-bio]/Ecology environment/Symbiosis
researchProduct

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
researchProduct

Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.

2020

Postprint 36 páginas, 7 figuras

0301 basic medicineArrestinsAmino Acid Transport System X-AGPhosphataseProgressive myoclonus epilepsyBiologyEndocytosisLafora diseaseArticle03 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineUbiquitinmedicineAnimalsNedd4.2Lafora diseaseGlutamate receptorUbiquitinationTransportermedicine.diseaseProtein Tyrosine Phosphatases Non-ReceptorEndocytosisCell biologyGLT-1030104 developmental biologyNeurologyLafora Diseasebiology.proteinGlutamateLaforin030217 neurology & neurosurgeryGlia
researchProduct