Search results for "pit"

showing 10 items of 9314 documents

Small Rab GTPases in Intracellular Vesicle Trafficking: The Case of Rab3A/Raphillin-3A Complex in the Kidney

2021

Small Rab GTPases, the largest group of small monomeric GTPases, regulate vesicle trafficking in cells, which are integral to many cellular processes. Their role in neurological diseases, such as cancer and inflammation have been extensively studied, but their implication in kidney disease has not been researched in depth. Rab3a and its effector Rabphillin-3A (Rph3A) expression have been demonstrated to be present in the podocytes of normal kidneys of mice rats and humans, around vesicles contained in the foot processes, and they are overexpressed in diseases with proteinuria. In addition, the Rab3A knockout mice model induced profound cytoskeletal changes in podocytes of high glucose fed a…

0301 basic medicineQH301-705.5Kidney Glomerulus030232 urology & nephrologyVesicular Transport ProteinsNerve Tissue ProteinsGTPaseReviewBiologyKidneyRabphilin-3ACatalysisInorganic Chemistry03 medical and health sciences0302 clinical medicinemedicineAnimalsHumansPhysical and Theoretical ChemistryBiology (General)CytoskeletonMolecular BiologyQD1-999SpectroscopyAdaptor Proteins Signal TransducingKidneyEffectorPodocytesVesicleOrganic ChemistryRab3AIntracellular vesicleEpithelial CellsGeneral Medicinerab3A GTP-Binding ProteinComputer Science ApplicationsCell biologyChemistry030104 developmental biologymedicine.anatomical_structurerab GTP-Binding ProteinsRab proteinsKnockout mouseRabInternational Journal of Molecular Sciences
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MODOMICS: a database of RNA modification pathways. 2017 update

2017

Abstract MODOMICS is a database of RNA modifications that provides comprehensive information concerning the chemical structures of modified ribonucleosides, their biosynthetic pathways, the location of modified residues in RNA sequences, and RNA-modifying enzymes. In the current database version, we included the following new features and data: extended mass spectrometry and liquid chromatography data for modified nucleosides; links between human tRNA sequences and MINTbase - a framework for the interactive exploration of mitochondrial and nuclear tRNA fragments; new, machine-friendly system of unified abbreviations for modified nucleoside names; sets of modified tRNA sequences for two bact…

0301 basic medicineRNA methylationBiologycomputer.software_genreMass Spectrometry03 medical and health scienceschemistry.chemical_compound0302 clinical medicineRNA TransferEpitranscriptomicsTerminology as TopicRNA modificationDatabases GeneticGeneticsDatabase IssueHumanschemistry.chemical_classificationDatabase2'-O-methylationRNA030104 developmental biologyEnzymechemistry030220 oncology & carcinogenesisTransfer RNARNARibonucleosidesN6-MethyladenosinecomputerChromatography LiquidNucleic Acids Research
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Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

2016

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…

0301 basic medicineRefractive errorgenetic structuresGeneral Physics and AstronomyGenome-wide association studyVARIANTSrefractive error ; geneEYEBioinformaticsINCIDENT MYOPIAGenome-wide association studiesSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]0302 clinical medicinePolymorphism (computer science)10. No inequalityPOPULATIONeducation.field_of_studyMultidisciplinaryQACTIVATED PROTEIN-KINASEta3142single-nucleotide polymorphismRETINAL-PIGMENT EPITHELIUMOUTDOOR ACTIVITY3142 Public health care science environmental and occupational health3. Good healthRefractive errorsMeta-analysislociEducational StatusSciencePopulation610 Medicine & healthEnvironmentBiologyta3111Polymorphism Single NucleotideArticleWhite PeopleGeneral Biochemistry Genetics and Molecular BiologyEducation03 medical and health sciencesAsian PeopleSDG 3 - Good Health and Well-beingGenetic variationmedicineHumansSNPGenetic Predisposition to Diseasemyopia3125 Otorhinolaryngology ophthalmologyGenetic variationeducationRECEPTORGene Expression Profilingta1184General ChemistryHeritabilitymedicine.diseaseeye diseasesta3125TIME OUTDOORS030104 developmental biologyGenetic LociEvolutionary biologyRISK-FACTORS030221 ophthalmology & optometryREsense organs3111 BiomedicineGenome-Wide Association StudyNature Communications
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Subacute effects of ozone exposure on cultivated human respiratory mucosa.

2001

This study was designed to investigate subacute effects of long-term exposure of both healthy and chronically inflamed human respiratory mucosa to ozone. Functional and metabolic effects on ciliary beat frequency (CBF), release of interleukin 8 (IL-8), interleukin 4 (IL-4), and γ interferon (g-INF), as well as cellular viability and cytotoxicity, were monitored. Cell cultures of 60 specimens (healthy mucosa: n = 30, inflamed mucosa: n = 30) were exposed to synthetic air and to ozone-enriched synthetic air in different concentrations of WO, 500, and WOO μg/m3. Continuous expositions were performed using an air/liquid interface cell culture technique for a period of 4 weeks. CBF was monitore…

0301 basic medicineRespiratory MucosaAdultmedicine.medical_specialtyTime FactorsAdolescentMucociliary clearanceCell Survivalmedicine.medical_treatmentRespiratory Mucosa03 medical and health scienceschemistry.chemical_compoundInterferon-gamma0302 clinical medicineOzoneLactate dehydrogenaseInternal medicinemedicineHumansInterleukin 8CiliaCytotoxicityInterleukin 4Cells CulturedAged030102 biochemistry & molecular biologybusiness.industryAirInterleukin-8Middle AgedCytokineEndocrinologyOtorhinolaryngologychemistry030220 oncology & carcinogenesisAnesthesiaRespiratory epitheliumInterleukin-4businessAmerican journal of rhinology
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N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells

2021

Blindness due to photoreceptor degeneration is observed in both genetic and acquired eye disorders. Long blue light exposure can contribute to increase levels of oxidative compounds within the retinal pigment epithelium (RPE), enhancing risk of retinal damage. In retina, reactive oxygen species contribute to the activation of inflammatory cascade. If chronic, this inflammatory response can result in photoreceptor death. Therefore, we investigated the effects of the endogenous adduct N-retinylidene-N-retinylethanolamine (A2E) on RPE cells, in order to identify the most dysregulated cytokines and their related inflammatory pathways. RPE cells were exposed to A2E and blue light for 3h and 6h. …

0301 basic medicineRetinal degenerationCell SurvivalInflammationRetinal Pigment Epitheliummedicine.disease_causeA2ECell LineTranscriptomeRetinoids03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineExpression analysiSettore BIO/13 - Biologia ApplicatamedicineHumansInflammationchemistry.chemical_classificationRetinaReactive oxygen speciesRetinal pigment epitheliumSettore MED/30 - Malattie Apparato VisivoChemistryRetinal Degenerationmedicine.diseaseeye diseasesSensory SystemsCell biologyOphthalmology030104 developmental biologymedicine.anatomical_structureGene Expression RegulationChronic Disease030221 ophthalmology & optometryOxidative streCytokinesEye disorderRPEA2E; Expression analysis; Inflammation; Oxidative stress; RPE; Retinal degenerationsense organsmedicine.symptomReactive Oxygen SpeciesRetinal PigmentsOxidative stressSignal TransductionExperimental Eye Research
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Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

2018

SUMMARY Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium cause ciliopathy disorders, with retinal degeneration as a prominent phenotype. Here, we demonstrate that the retinal pigment epithelium (RPE), essential for photoreceptor development and function, requires a functional primary cilium for complete maturation and that RPE maturation defects in ciliopathies precede photoreceptor degeneration. Pharmacologically enhanced ciliogenesis in wild-type induced pluripotent stem cells (iPSC)-RPE leads to fully mature and functional cells. In contrast, ciliopathy patient-derived iPSC-RPE and iPSC-RPE with a knockdown of ciliary-trafficking pr…

0301 basic medicineRetinal degenerationInduced Pluripotent Stem CellsRespiratory MucosaRetinal Pigment EpitheliumBiologyCell MaturationCiliopathiesArticleGeneral Biochemistry Genetics and Molecular BiologyMice03 medical and health sciencesCiliogenesismedicineAnimalsCiliaInduced pluripotent stem celllcsh:QH301-705.5Mice KnockoutRetinal pigment epitheliumCiliumRetinal Degenerationmedicine.diseaseCiliopathieseye diseasesCell biologyProtein Kinase C-deltaCiliopathy030104 developmental biologymedicine.anatomical_structurelcsh:Biology (General)sense organsCell Reports
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Generation of an inducible RPE-specific Cre transgenic-mouse line.

2018

The retinal pigment epithelium (RPE) is an epithelial monolayer in the back of the vertebrate eye. RPE dysfunction is associated with retinal degeneration and blindness. In order to fully understand how dysregulation affects visual function, RPE-specific gene knockouts are indispensable. Since the currently available RPE-specific Cre recombinases show lack of specificity or poor recombination, we sought to generate an alternative. We generated a tamoxifen-inducible RPE-specific Cre transgenic mouse line under transcriptional control of an RPE-specific Tyrosinase enhancer. We characterized the Cre-mediated recombinant expression by crossing our RPE-Tyrosinase-CreErT2 mouse line with the tdTo…

0301 basic medicineRetinal degenerationMaleEmbryologylcsh:MedicineGene ExpressionRetinal Pigment EpitheliumBiochemistry0302 clinical medicineRecombinaseMedicine and Health Scienceslcsh:ScienceStainingMultidisciplinaryMonophenol MonooxygenaseAnimal ModelsSpecimen preparation and treatmentCell biologyEnzymesmedicine.anatomical_structureExperimental Organism SystemsModels AnimalFemaleAnatomyResearch ArticleGenetically modified mouseImaging TechniquesTransgeneOcular AnatomyMice TransgenicMouse ModelsBiologyResearch and Analysis MethodsRetinaRecombinases03 medical and health sciencesModel OrganismsOcular SystemFluorescence ImagingmedicineGeneticsAnimalsEnhancerGene knockoutRetinaRetinal pigment epitheliumIntegraseslcsh:REmbryosDAPI stainingBiology and Life SciencesProteinsmedicine.diseaseeye diseasesMice Inbred C57BLLuminescent Proteins030104 developmental biologyNuclear stainingEnzymologyAnimal StudiesEyeslcsh:Qsense organsHead030217 neurology & neurosurgeryDevelopmental BiologyPloS one
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Ethanol-Induced Oxidative Stress Modifies Inflammation and Angiogenesis Biomarkers in Retinal Pigment Epithelial Cells (ARPE-19): Role of CYP2E1 and …

2020

The retinal pigment epithelium (RPE) plays a key role in retinal health, being essential for the protection against reactive oxygen species (ROS). Nevertheless, excessive oxidative stress can induce RPE dysfunction, promoting visual loss. Our aim is to clarify the possible implication of CYP2E1 in ethanol (EtOH)-induced oxidative stress in RPE alterations. Despite the increase in the levels of ROS, measured by fluorescence probes, the RPE cells exposed to the lowest EtOH concentrations were able to maintain cell survival, measured by the Cell Proliferation Kit II (XTT). However, EtOH-induced oxidative stress modified inflammation and angiogenesis biomarkers, analyzed by proteome array, ELIS…

0301 basic medicineRetinal degenerationProgrammed cell deathPhysiologyAngiogenesisClinical BiochemistryTerapéuticaretinal pigment epitheliumdegenerationInflammationmedicine.disease_causeFisiologíaDegeneración macularBiochemistryArticle03 medical and health sciencesTratamiento médico0302 clinical medicineMedicina preventivahomeostasismedicineoxidative stressHomeostasisCYP2E1Molecular BiologyRetinal pigment epitheliumchemistry.chemical_classificationReactive oxygen speciesRetinal pigment epitheliumChemistryCell growthlcsh:RM1-950Cell Biologymedicine.diseaseCell biology030104 developmental biologymedicine.anatomical_structurelcsh:Therapeutics. PharmacologyOxidative stress030220 oncology & carcinogenesisDegenerationOftalmologíamedicine.symptomOxidative stress
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Influenza vaccine effectiveness among high-risk groups: a systematic literature review and metaanalysis of case-control and cohort studies

2017

Vaccination represents the most effective intervention to prevent infection, hospitalization and mortality due to influenza. This meta-analysis quantifies data reporting influenza vaccine effectiveness (VE) on influenza visits and hospitalizations of case-control and cohort studies among high-risk groups. A systematic literature review including original articles published between 2007 and 2016, using a protocol registered on Prospero with No. 42017054854, and a meta-analysis were conducted. For three high-risk groups (subjects with underlying health conditions, pregnant women and health care workers) only a qualitative evaluation was carried out. The VE quantitative analysis demonstrated a…

0301 basic medicineReviewSettore MED/42 - Igiene Generale E ApplicataCohort Studies0302 clinical medicinePregnancyvaccineHealth careImmunology and AllergyMedicine030212 general & internal medicineData reportingChildAged 80 and overVaccinationMiddle AgedVaccinationHospitalizationSystematic reviewInfluenza VaccinesMeta-analysisChild PreschoolFemaleelderly subjectsinfluenzaCohort studyAdultRiskmedicine.medical_specialtyInfluenza vaccine effectiveness children elderly subjects chronic disease pregnancy health care worker hospitalization visit.AdolescentInfluenza vaccine030106 microbiologyImmunologyeffectiveness03 medical and health sciencesYoung AdultchildrenInfluenza HumanHumansIntensive care medicineAgedPharmacologybusiness.industryPublic healthInfanthealth care workerCase-Control StudiesEmergency medicinebusinessvisitchronic disease
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Cytoplasmic localization of the cell polarity factor scribble supports liver tumor formation and tumor cell invasiveness

2018

The loss of epithelial cell polarity plays an important role in the development and progression of liver cancer. However, the specific molecular mechanisms supporting tumor initiation and progression are poorly understood. In this study, transcriptome data and immunofluorescence stains of tissue samples derived from hepatocellular carcinoma (HCC) patients revealed that overexpression associated with cytoplasmic localization of the baso-lateral cell polarity complex protein Scribble (Scrib) correlated with poor prognosis of HCC patients. In comparison to HCC cells stably expressing wildtype Scrib (ScribWT), mutated Scrib with enforced cytoplasmic enrichment (ScribP305L) induced AKT signaling…

0301 basic medicineSCRIBCytoplasmCarcinoma HepatocellularTumor initiationBiologyMice03 medical and health sciences0302 clinical medicineCell Line TumorCell polarityPhosphoprotein PhosphatasesAnimalsHumansPTENTensinNeoplasm InvasivenessEpithelial–mesenchymal transitionProtein kinase BHepatologyOncogeneTumor Suppressor ProteinsLiver NeoplasmsCell PolarityMembrane ProteinsNuclear ProteinsMolecular biology3. Good healthCell Transformation Neoplastic030104 developmental biologyLiver030220 oncology & carcinogenesisbiology.proteinCancer researchProto-Oncogene Proteins c-aktSignal TransductionHepatology
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