Search results for "SIG"

showing 10 items of 19670 documents

CAMKIIγ suppresses an efferocytosis pathway in macrophages and promotes atherosclerotic plaque necrosis

2017

Atherosclerosis is the underlying etiology of cardiovascular disease, the leading cause of death worldwide. Atherosclerosis is a heterogeneous disease in which only a small fraction of lesions lead to heart attack, stroke, or sudden cardiac death. A distinct type of plaque containing large necrotic cores with thin fibrous caps often precipitates these acute events. Here, we show that Ca2+/calmodulin-dependent protein kinase gamma (CaMKII gamma) in macrophages plays a major role in the development of necrotic, thin-capped plaques. Macrophages in necrotic and symptomatic atherosclerotic plaques in humans as well as advanced atherosclerotic lesions in mice demonstrated activation of CaMKII. We…

0301 basic medicineMalePathologymedicine.medical_specialtyPhagocytosisGene ExpressionInflammationApoptosisMice TransgenicBiologyPHAGOCYTOSISLIPID MEDIATORS03 medical and health sciencesNecrosisENDOPLASMIC-RETICULUM STRESSINFLAMMATIONCa2+/calmodulin-dependent protein kinaseC/EBP HOMOLOGOUS PROTEINmedicineMacrophageAnimalsHumansKINASE-IILiver X receptorEfferocytosisCells CulturedLiver X ReceptorsAPOE-DEFICIENT MICEc-Mer Tyrosine KinaseATF6MacrophagesAPOPTOTIC CELL ACCUMULATIONGeneral MedicineMERTKAtherosclerosisPlaque AtheroscleroticActivating Transcription Factor 6Enzyme ActivationMice Inbred C57BL030104 developmental biologyRESOLUTIONmedicine.symptomCalcium-Calmodulin-Dependent Protein Kinase Type 2LIVER-X-RECEPTORResearch ArticleSignal TransductionJournal of Clinical Investigation
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NKCC1-Mediated GABAergic Signaling Promotes Postnatal Cell Death in Neocortical Cajal-Retzius Cells.

2016

During early development, a substantial proportion of central neurons undergoes programmed cell death. This activity-dependent process is essential for the proper structural and functional development of the brain. To uncover cell type-specific differences in the regulation of neuronal survival versus apoptosis, we studied activity-regulated cell death in Cajal-Retzius neurons (CRNs) and the overall neuronal population in the developing mouse cerebral cortex. CRNs in the upper neocortical layer represent an early-born neuronal population, which is important for cortical development and largely disappears by apoptosis during neonatal stages. In contrast to the overall neuronal population, ac…

0301 basic medicineMaleProgrammed cell deathCognitive NeuroscienceApoptosisNeocortexReceptors Cell SurfaceBiologygamma-Aminobutyric acid03 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicinemedicineAnimalsLectins C-TypeGABAergic NeuronsCells Culturedgamma-Aminobutyric AcidMice KnockoutNeocortexGABAA receptorDepolarizationInterstitial Cells of CajalReceptors GABA-AMice Inbred C57BL030104 developmental biologymedicine.anatomical_structurenervous systemAnimals NewbornCerebral cortexApoptosisFemaleSignal transductionNeuroscience030217 neurology & neurosurgerymedicine.drugSignal TransductionCerebral cortex (New York, N.Y. : 1991)
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Characterization of the porcine seminal plasma proteome comparing ejaculate portions.

2016

Full identification of boar seminal plasma (SP) proteins remains challenging. This study aims to provide an extensive proteomic analysis of boar SP and to generate an accessible database of boar SP-proteome. A SP-pool (33 entire ejaculates/11 boars; 3 ejaculates/boar) was analyzed to characterize the boar SP-proteome. Twenty ejaculates (5 boars, 4 ejaculates/boar) collected in portions (P1: first 10 mL of sperm rich ejaculate fraction (SRF), P2: rest of SRF and P3: post-SRF) were analyzed to evaluate differentially expressed SP-proteins among portions. SP-samples were analyzed using a combination of SEC, 1-D SDS PAGE and NanoLC-ESI-MS/MS followed by functional bioinformatics. The identified…

0301 basic medicineMaleProteomicsendocrine systemBOARProteomeSwineQuantitative proteomicsBiophysicsComputational biologyBioinformatik och systembiologiBiologyBioinformaticsBiochemistry03 medical and health sciencesTandem Mass SpectrometryAnimalsPorcine; Ejaculate; Seminal plasma; ProteomeEjaculationSperm qualityDatabases ProteinLabel freeBioinformatics and Systems Biologyurogenital systemProteomic ProfilingReproductionSeminal Plasma ProteinsComputational BiologySpermSemen Analysis030104 developmental biologyFertilityGene Expression RegulationBiological significanceProteomeElectrophoresis Polyacrylamide GelChromatography LiquidJournal of proteomics
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Functional role of endothelial CXCL16/CXCR6-platelet-leucocyte axis in angiotensin II-associated metabolic disorders.

2018

Aims Angiotensin-II (Ang-II) is the main effector peptide of the renin-angiotensin system (RAS) and promotes leucocyte adhesion to the stimulated endothelium. Because RAS activation and Ang-II signalling are implicated in metabolic syndrome (MS) and abdominal aortic aneurysm (AAA), we investigated the effect of Ang-II on CXCL16 arterial expression, the underlying mechanisms, and the functional role of the CXCL16/CXCR6 axis in these cardiometabolic disorders. Methods and results Results from in vitro chamber assays revealed that CXCL16 neutralization significantly inhibited mononuclear leucocyte adhesion to arterial but not to venous endothelial cells. Flow cytometry and immunofluorescence s…

0301 basic medicineMaleRHOAPhysiologyMice Knockout ApoE030204 cardiovascular system & hematology0302 clinical medicineLeukocytesReceptorCells CulturedMetabolic SyndromebiologyChemistryAngiotensin IIMiddle AgedAortic AneurysmVascular endothelial growth factor ALosartanmedicine.anatomical_structurecardiovascular systemFemaleCardiology and Cardiovascular Medicinemedicine.drugSignal TransductionAdultBlood Plateletsmedicine.medical_specialtyEndothelium03 medical and health sciencesPhysiology (medical)Internal medicinemedicineCell AdhesionAnimalsHumansPlatelet activationReceptors CXCR6Angiotensin II receptor type 1Endothelial CellsChemokine CXCL16Platelet ActivationAngiotensin IICoculture TechniquesMice Inbred C57BLDisease Models Animal030104 developmental biologyEndocrinologyCase-Control Studiesbiology.proteinAngiotensin II Type 1 Receptor BlockersCardiovascular research
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miRNA92a targets KLF2 and the phosphatase PTEN signaling to promote human T follicular helper precursors in T1D islet autoimmunity.

2016

Aberrant immune activation mediated by T effector cell populations is pivotal in the onset of autoimmunity in type 1 diabetes (T1D). T follicular helper (TFH) cells are essential in the induction of high-affinity antibodies, and their precursor memory compartment circulates in the blood. The role of TFH precursors in the onset of islet autoimmunity and signaling pathways regulating their differentiation is incompletely understood. Here, we provide direct evidence that during onset of islet autoimmunity, the insulin-specific target T-cell population is enriched with a C-X-C chemokine receptor type 5 (CXCR5)(+)CD4(+) TFH precursor phenotype. During onset of islet autoimmunity, the frequency o…

0301 basic medicineMaleReceptors CXCR5endocrine systemAdolescentPopulationPrimary Cell CultureKruppel-Like Transcription FactorsAutoimmunityMice TransgenicNodBiologymedicine.disease_causeCXCR5Autoimmunity03 medical and health sciencesIslets of LangerhansMicePhosphatidylinositol 3-Kinases0302 clinical medicineMice Inbred NODmedicineAnimalsHumansIL-2 receptorKlf2 ; Pten-pi3k Signaling ; T Follicular Helper Cells ; Mirna92a ; Type 1 DiabeteseducationChildPI3K/AKT/mTOR pathwayNOD miceAutoantibodiesgeographyeducation.field_of_studyMultidisciplinarygeography.geographical_feature_categoryForkhead Box Protein O1PTEN PhosphohydrolaseAntagomirsT-Lymphocytes Helper-InducerIsletMicroRNAs030104 developmental biologyDiabetes Mellitus Type 1Gene Expression RegulationImmunologyCancer researchFemale030215 immunologySignal Transduction
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Microenvironment in neuroblastoma: isolation and characterization of tumor-derived mesenchymal stromal cells

2018

Background It has been proposed that mesenchymal stromal cells (MSCs) promote tumor progression by interacting with tumor cells and other stroma cells in the complex network of the tumor microenvironment. We characterized MSCs isolated and expanded from tumor tissues of pediatric patients diagnosed with neuroblastomas (NB-MSCs) to define interactions with the tumor microenvironment. Methods Specimens were obtained from 7 pediatric patients diagnosed with neuroblastoma (NB). Morphology, immunophenotype, differentiation capacity, proliferative growth, expression of stemness and neural differentiation markers were evaluated. Moreover, the ability of cells to modulate the immune response, i.e. …

0301 basic medicineMaleRegistrieCancer ResearchCellular differentiationMesenchymal stromal cellsCell SeparationNeuroblastoma0302 clinical medicineImmunophenotypingCancer-Associated FibroblastsTumor MicroenvironmentCytotoxic T cellRegistriesStemnessCancer-Associated FibroblastCoculture TechniqueChildrenCells CulturedStemneChemistryMesenchymal stromal cellCell CycleEMTCell Differentiationlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensImmunohistochemistryMesenchymal Stem CellOncology030220 oncology & carcinogenesisChild PreschoolPopulation SurveillanceBone Marrow CellFemaleResearch ArticleHumanSignal TransductionStromal cellMicroenvironmentBone Marrow Cellslcsh:RC254-282Immunophenotyping03 medical and health sciencesGeneticsBiomarkers TumorHumansSettore MED/04 - Patologia GeneraleTumor microenvironmentGene Expression ProfilingMesenchymal stem cellInfantMesenchymal Stem CellsCoculture Techniques030104 developmental biologyTumor progressionCancer cellMutationCancer research
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Longitudinal Analysis of Serum Autoantibody-Reactivities in Patients with Primary Open Angle Glaucoma and Optic Disc Hemorrhage.

2015

Background The aim of our current investigation was to analyze the autoantibody-reactivities of primary open angle glaucoma patients with optic disc hemorrhage as possibly correlated to disease progression by means of a protein microarray approach. Methods Sera of patients with primary open angle glaucoma and optic disc hemorrhage (n = 16) were collected directly after study inclusion (0 weeks) and after 2 weeks, 4 weeks and 12 weeks. As a control group patients with primary open angle glaucoma (n = 18) were used (0 weeks and 12 weeks). Microarrays were incubated and occurring antibody-antigen-reactions were visualized with fluorescence labeled anti-human-IgG secondary antibodies. To detect…

0301 basic medicineMaleRetinal Ganglion CellsSerum ProteinsVisual acuitygenetic structuresEye DiseasesMicroarraysVisionVisual AcuityGlaucomalcsh:MedicineSocial SciencesPathogenesisPathology and Laboratory MedicineVascular MedicineBiochemistryPathogenesis0302 clinical medicineAnimal CellsMedicine and Health SciencesPsychologyLongitudinal Studieslcsh:ScienceNeuronsMultidisciplinarybiologyMiddle AgedPrimary and secondary antibodiesmedicine.anatomical_structureBioassays and Physiological AnalysisDisease ProgressionFemaleSensory PerceptionAntibodymedicine.symptomCellular TypesAnatomyGlaucoma Open-AngleOptic discResearch Articlemedicine.medical_specialtyGanglion CellsOpen angle glaucomaOcular AnatomyProtein Array AnalysisHemorrhageResearch and Analysis MethodsOptic Disc03 medical and health sciencesSigns and SymptomsDiagnostic MedicineOcular SystemOphthalmologymedicineHumansAgedAutoantibodiesbusiness.industrylcsh:RAutoantibodyBiology and Life SciencesAfferent NeuronsProteinsGlaucomaCell Biologymedicine.diseaseeye diseasesOphthalmology030104 developmental biologyCellular Neuroscience030221 ophthalmology & optometrybiology.proteinlcsh:Qsense organsbusinessNeurosciencePloS one
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Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.

2020

ABSTRACTShprintzen-Goldberg syndrome (SGS) is a multisystemic connective tissue disorder, with considerable clinical overlap with Marfan and Loeys-Dietz syndromes. These syndromes have commonly been associated with enhanced TGF-β signaling. In SGS patients, heterozygous point mutations have been mapped to the transcriptional corepressor SKI, which is a negative regulator of TGF-β signaling that is rapidly degraded upon ligand stimulation. The molecular consequences of these mutations, however, are not understood. Here we use a combination of structural biology, genome editing and biochemistry to show that SGS mutations in SKI abolish its binding to phosphorylated SMAD2 and SMAD3. This resul…

0301 basic medicineMaleSMADmedicine.disease_causeMarfan SyndromeActivin0302 clinical medicineGenome editingTransforming Growth Factor betaGene expressionBiology (General)MutationShprintzen-Goldberg syndromeGeneral NeuroscienceQRShprintzen–Goldberg syndromeGeneral MedicineLigand (biochemistry)Chromosomes and Gene ExpressionCell biologyDNA-Binding ProteinsMedicinePhosphorylationFemaleSignal TransductionResearch ArticleHumanTGF-βQH301-705.5ScienceBiologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesCraniosynostosesstomatognathic systemBiochemistry and Chemical BiologyProto-Oncogene ProteinsmedicineHumansGeneral Immunology and MicrobiologyPoint mutationmedicine.diseaseSKIArachnodactyly030104 developmental biologyStructural biologyMutation030217 neurology & neurosurgerySMADTransforming growth factoreLife
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Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.

2017

Background Autosomal recessive hypercholesterolemia (ARH) is a rare inherited lipid disorder. In Sardinia, differently from other world regions, the mutated allele frequency is high. It is caused by mutations in the low-density lipoprotein receptor adaptor protein 1 gene. Fourteen different mutations have been reported so far; in Sardinia, 2 alleles (ARH1 and ARH2) explain most of the cases. Four ARH patients, all carriers of the ARH1 mutation, have been identified in mainland Italy and 2 in Sicily. Objective The objectives of the study were to improve the molecular diagnosis of familial hypercholesterolemia (FH) and to estimate the frequency of the ARH1 allele in 2 free-living Sicilian pop…

0301 basic medicineMaleSettore MED/09 - Medicina InternaEndocrinology Diabetes and MetabolismFamilial hypercholesterolemia030204 cardiovascular system & hematology0302 clinical medicineChildN-Glycosyl HydrolasesSicilyGeneticsAged 80 and overeducation.field_of_studyNutrition and DieteticsAllele frequencyHomozygoteHigh-Throughput Nucleotide SequencingAutosomal recessive hypercholesterolemiaMiddle AgedAutosomal Recessive HypercholesterolemiaSettore MED/26 - NeurologiaFemaleCardiology and Cardiovascular MedicineAdultAdolescentGenotypePopulationHypercholesterolemiaBiologyDNA sequencing03 medical and health sciencesYoung AdultARH1Internal MedicinemedicineHumansAlleleeducationGenotypingAllele frequencyAllelesAdaptor Proteins Signal TransducingAgedHeterozygous carrierSequence Analysis DNAmedicine.diseaseNGS-based gene panel030104 developmental biologyGenetic epidemiologyReceptors LDLJournal of clinical lipidology
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Hyperuricemia and Risk of Cardiovascular Outcomes: The Experience of the URRAH (Uric Acid Right for Heart Health) Project

2020

The latest European Guidelines of Arterial Hypertension have officially introduced uric acid evaluation among the cardiovascular risk factors that should be evaluated in order to stratify patient's risk. In fact, it has been extensively evaluated and demonstrated to be an independent predictor not only of all-cause and cardiovascular mortality, but also of myocardial infraction, stroke and heart failure. Despite the large number of studies on this topic, an important open question that still need to be answered is the identification of a cardiovascular uric acid cut-off value. The actual hyperuricemia cut-off (> 6 mg/dL in women and 7 mg/dL in men) is principally based on the saturation …

0301 basic medicineMaleTime FactorsDiseaseUric acid.chemistry.chemical_compound0302 clinical medicineRisk FactorsUric Acid Cardiovascular events epidemiologyEpidemiologyMulticenter Studies as TopicHyperuricemiaStrokeCardiovascular events; Cardiovascular mortality; Uric acid; URRAHMiddle AgedPrognosisObservational Studies as TopicItalyCardiovascular DiseasesResearch DesignFemaleCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyCardiovascular mortalityUric acid · Cardiovascular mortality · Cardiovascular events · URRAHContext (language use)Cardiovascular eventHyperuricemiaRisk AssessmentCardiovascular events03 medical and health sciencesURRAHcardiovascular events; cardiovascular mortality; urrah; uric acidPharmacotherapyInternal medicineInternal MedicinemedicineHumansAgedRetrospective Studiesbusiness.industrymedicine.disease030104 developmental biologychemistryHeart failureUric acidbusinessUric acid030217 neurology & neurosurgeryCardiovascular events; Cardiovascular mortality; Uric acid; URRAH; Adult; Aged; Biomarkers; Cardiovascular Diseases; Female; Humans; Hyperuricemia; Italy; Male; Middle Aged; Multicenter Studies as Topic; Observational Studies as Topic; Prognosis; Research Design; Retrospective Studies; Risk Assessment; Risk Factors; Time Factors; Uric AcidBiomarkers
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