Search results for "Proteins"

showing 10 items of 10069 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
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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
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Hepatocyte vitamin D receptor regulates lipid metabolism and mediates experimental diet-induced steatosis.

2015

Background & Aims The pathogenesis and progression of non-alcoholic fatty liver disease (NAFLD) is still incompletely understood. Several nuclear receptors play a role in liver lipid metabolism and can promote hepatosteatosis, but the possible role of vitamin D receptor (VDR) in NAFLD has not been investigated. Methods The expression of liver VDR was investigated in apolipoprotein E knockout ( apoE −/− ) mice on a high fat diet, in wild-type mice on methionine and choline deficient diet and in NAFLD patients with hepatosteatosis and non-alcoholic steatohepatitis. The relevance of VDR was assessed in apoE −/− mice by deletion of VDR or paricalcitol treatment and in human HepG2 cells by VDR t…

0301 basic medicineApolipoprotein Emedicine.medical_specialtyCD36Retinoid X receptorDiet High-FatCalcitriol receptor03 medical and health sciencesMiceNon-alcoholic Fatty Liver DiseaseInternal medicinemedicineAnimalsHumansHepatologybiologyFatty liverLipid metabolismmedicine.diseaseLipid MetabolismMice Inbred C57BLDisease Models Animal030104 developmental biologyEndocrinologyLiverbiology.proteinHepatocytesReceptors Calcitriollipids (amino acids peptides and proteins)SteatosisSteatohepatitisJournal of hepatology
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Myeloid-Specific Deletion of Diacylglycerol Lipase α Inhibits Atherogenesis in ApoE-Deficient Mice

2016

BACKGROUND:The endocannabinoid 2-arachidonoylglycerol (2-AG) is a known modulator of inflammation. Despite its high concentration in vascular tissue, the role of 2-AG in atherogenesis has not yet been examined. METHODS:ApoE-deficient mice were sublethally irradiated and reconstituted with bone marrow from mice with a myeloid-specific knockout of the 2-AG synthesising enzyme diacylglycerol lipase α (Dagla) or control bone marrow with an intact 2-AG biosynthesis. After a cholesterol-rich diet for 8 weeks, plaque size and plaque morphology were examined in chimeric mice. Circulating inflammatory cells were assessed by flow cytometry. Aortic tissue and plasma levels of endocannabinoids were mea…

0301 basic medicineApolipoprotein Emedicine.medical_specialtyMyeloidDiacylglycerol lipaselcsh:MedicineInflammationBlood Pressure030204 cardiovascular system & hematologyReceptor Cannabinoid CB203 medical and health sciencesMice0302 clinical medicineApolipoproteins EHeart RateSuperoxidesInternal medicinemedicineAnimalsMyeloid Cellslcsh:ScienceReceptorVascular tissueMice KnockoutLipoprotein lipaseMultidisciplinarybiologyMacrophageslcsh:RAtherosclerosisEndocannabinoid systemPlaque AtheroscleroticLipoprotein Lipase030104 developmental biologymedicine.anatomical_structureEndocrinologyBiochemistrybiology.proteinlcsh:Qlipids (amino acids peptides and proteins)medicine.symptomResearch ArticlePLoS ONE
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Disruption of the CCL1-CCR8 axis inhibits vascular Treg recruitment and function and promotes atherosclerosis in mice

2019

The CC chemokine 1 (CCL1, also called I-309 or TCA3) is a potent chemoattractant for leukocytes that plays an important role in inflammatory processes and diseases through binding to its receptor CCR8. Here, we investigated the role of the CCL1-CCR8 axis in atherosclerosis. We found increased expression of CCL1 in the aortas of atherosclerosis-prone fat-fed apolipoprotein E (Apoe)-null mice; moreover, in vitro flow chamber assays and in vivo intravital microscopy demonstrated an essential role for CCL1 in leukocyte recruitment. Mice doubly deficient for CCL1 and Apoe exhibited enhanced atherosclerosis in aorta, which was associated with reduced plasma levels of the anti-inflammatory interle…

0301 basic medicineApolipoprotein Emedicine.medical_specialtyRegulatory T cellCCL1030204 cardiovascular system & hematologyCCR8T-Lymphocytes RegulatoryReceptors CCR8Chemokine CCL1Mice03 medical and health sciencesApolipoproteins ETh2 Cells0302 clinical medicineInternal medicineLeukocytesmedicineSplenocyteAnimalsMolecular BiologyInflammationMice KnockoutChemistryTh1 CellsAtherosclerosisInterleukin-10Mice Inbred C57BLTregInterleukin 10030104 developmental biologyEndocrinologymedicine.anatomical_structureIL-10CytokinesCardiology and Cardiovascular MedicineCCR8Intravital microscopyCCL1LipoproteinJournal of Molecular and Cellular Cardiology
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AMG900 as novel inhibitor of the translationally controlled tumor protein

2020

Abstract Introduction Cancer is one of the leading causes of death worldwide. Classical cytotoxic chemotherapy exerts high side effects and low tumor selectivity. Translationally controlled tumor protein (TCTP) is a target for differentiation therapy, a promising, new therapeutic approach, which is expected to be more selective and less toxic than cytotoxic chemotherapy. The aim of the present investigation was to identify novel TCTP inhibitors. Methods We performed in silico screening and molecular docking using a chemical library of more than 31,000 compounds to identify a novel inhibitor of TCTP. We tested AMG900 in vitro for binding to TCTP by microscale thermophoresis and co-immunoprec…

0301 basic medicineApoptosisCell Cycle ProteinsToxicologyResting Phase Cell CycleFlow cytometry03 medical and health sciences0302 clinical medicineCyclin D1Differentiation therapyCell Line TumorNeoplasmsTranslationally-controlled tumor proteinBiomarkers TumormedicineHumansCyclin D3medicine.diagnostic_testbiologyChemistryG1 PhaseTumor Protein Translationally-Controlled 1General MedicineMolecular Docking SimulationBlot030104 developmental biologyProtein Biosynthesis030220 oncology & carcinogenesisCancer cellMCF-7 CellsCancer researchbiology.proteinPhthalazinesCyclin-dependent kinase 6Chemico-Biological Interactions
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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
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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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Sorting signals for PIN1 trafficking and localization

2016

PIN-FORMED (PIN) family proteins direct polar auxin transport based on their asymmetric (polar) localization at the plasma membrane. In the case of PIN1, it mainly localizes to the basal (rootward) plasma membrane domain of stele cells in root meristems. Vesicular trafficking events, such as clathrin-dependent PIN1 endocytosis and polar recycling, are probably the main determinants for PIN1 polar localization. However, very little is known about the signals which may be involved in binding the μ-adaptin subunit of clathrin adaptor complexes (APs) for sorting of PIN1 within clathrin-coated vesicles, which can determine its trafficking and localization. We have performed a systematic mutagene…

0301 basic medicineArabidopsis ProteinsVesicleClathrin adaptor complexCell MembraneMembrane Transport ProteinsPlant ScienceBiologyEndocytosisClathrinEndocytosisAdaptor Protein Complex mu SubunitsArticle AddendumCell biologyAdaptor Proteins Vesicular Transport03 medical and health sciences030104 developmental biologybiology.proteinClathrin adaptor proteinsPolar auxin transportTyrosineSecretory pathwayPlant Signaling & Behavior
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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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