Search results for "R5-920"

showing 10 items of 603 documents

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

2021

Abstract Background Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy and renal abnormalities. Together with Alstrom syndrome (AS), they are known as the ‘obesity ciliopathies’ due to their common phenotype. Nonsense mutations are responsible for approximately 11% and 40% of BBS and AS cases, respectively. Translational readthrough inducing drugs (TRIDs) can restore full-length protein bypassing in-frame premature termination codons, and are a potential therapeutic approach for nonsense-mediated ciliop…

BBS2AdultMaleMedicine (General)AdolescentNonsense mutationAminopyridinesCell Cycle ProteinsCiliopathiesGeneral Biochemistry Genetics and Molecular Biologychemistry.chemical_compoundR5-920AtalurenCiliogenesismedicineHumansReceptors SomatostatinBardet-Biedl SyndromeAlstrom SyndromeCells CulturedOxadiazolesbusiness.industryTumor Suppressor ProteinsTranslational readthroughRProteinsGeneral MedicineFibroblastsmedicine.diseaseNonsense suppressionCiliopathiesAtalurenCiliopathyALMS1chemistryCodon NonsenseAmlexanoxCancer researchMedicineBBS2businessAlström syndromeResearch PaperEBioMedicine
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Redox regulation of genome stability by effects on gene expression, epigenetic pathways and DNA damage/repair

2015

Reactive oxygen and nitrogen species (e.g. H2O2, nitric oxide) confer redox regulation of essential cellular signaling pathways such as cell differentiation, proliferation, migration and apoptosis. In addition, classical regulation of gene expression or activity, including gene transcription to RNA followed by translation to the protein level, by transcription factors (e.g. NF-κB, HIF-1α) and mRNA binding proteins (e.g. GAPDH, HuR) is subject to redox regulation. This review will give an update of recent discoveries in this field, and specifically highlight the impact of reactive oxygen and nitrogen species on DNA repair systems that contribute to genomic stability. Emphasis will be placed …

Genome instabilityRedox signalingRNA UntranslatedEpigenetic regulation of neurogenesisDNA RepairHuR mRNA-binding protein in the 3′-untranslated regionClinical BiochemistryHDAC histone deacetylaseReview ArticleAP-1 activator protein 1BiochemistryApe-1 apurinic/apyrimidinic endonuclease 1GPx-1 glutathione peroxidase-1Epigenesis GeneticHistonesTrx thioredoxinPHD prolylhydroxylaseBER base excision repairlcsh:QH301-705.5HO-1 heme oxygenase-1EpigenomicsGeneticsRegulation of gene expressionNox member of the NADPH oxidase familylcsh:R5-920JmjC Jumonji C domain-containing histone demethylasesHIF-1α hypoxia inducible factor-1α5-hmC 5-hydroxymethylcytosineddc:Cell biologyMMP matrix metalloproteinaseGrx glutaredoxinGAPDH glyceraldehyde-3-phosphate dehydrogenaseNrf2 nuclear factor erythroid related factor 2DNA methylationEpigeneticslcsh:Medicine (General)Oxidation-ReductionSignal Transduction5-mC 5-methylcytosineDNA repairDNA damageNF-κB nuclear factor-κBBiologyGenomic InstabilityRNS reactive nitrogen speciesROS reactive oxygen speciesNER nucleotide excision repairSOD superoxide dismutaseOxyR transcription factor (hydrogen peroxide-inducible genes activator)HumansEpigeneticsOrganic ChemistryPETN pentaerithrityl tetranitrateGene regulationOxidative StressDNMT DNA methyltransferaseGene Expression Regulationlcsh:Biology (General)AREs AU-rich elementsHAT histone acetyltransferaseKeap1 kelch-like ECH-associated protein 1BiomarkersCOPD chronic obstructive pulmonary disorderDNA DamageRedox Biology
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EUROMEDITERRANEAN BIOMEDICAL JOURNAL (EMBJ) TO SUPPORT THE INTERNATIONAL CALL FOR GRANTS FROM THE ITALIAN INSTITUTE OF HEALTH DEDICATED TO YOUNG RESE…

2022

EuroMediterranean Biomedical Journal (EMBJ) can be considered both a scientific journal and a learning tool for “researchers-in-training” coming from Euro-Mediterranean Countries and other areas of the globe. We announce the launch of an international call for grants from Istituto Superiore di Sanità (ISS, the Italian National Institute Health), reserved to young Italian and foreign researchers. We strongly encourage the junior researchers that have authored manuscripts published in EMBJ to consider the application to this extraordinary opportunity.

Medicine (General)R5-920italian institute of healthcall for grantyoung researchersEuromediterranean Biomedical Journal
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Calculation of NNTs in RCTs with time-to-event outcomes: A literature review

2008

Abstract Background The number needed to treat (NNT) is a well-known effect measure for reporting the results of clinical trials. In the case of time-to-event outcomes, the calculation of NNTs is more difficult than in the case of binary data. The frequency of using NNTs to report results of randomised controlled trials (RCT) investigating time-to-event outcomes and the adequacy of the applied calculation methods are unknown. Methods We searched in PubMed for RCTs with parallel group design and individual randomisation, published in four frequently cited journals between 2003 and 2005. We evaluated the type of outcome, the frequency of reporting NNTs with corresponding confidence intervals,…

medicine.medical_specialtyEpidemiologyMEDLINEHealth Informaticslaw.inventionRandomized controlled triallawStatisticsConfidence IntervalsHumansMedicineRandomized Controlled Trials as Topiclcsh:R5-920business.industryAbsolute risk reductionConsolidated Standards of Reporting TrialsConfidence intervalClinical trialSample size determinationData Interpretation StatisticalSample SizeNumber needed to treatPhysical therapylcsh:Medicine (General)businessResearch ArticleBMC Medical Research Methodology
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Behavioral and clinical characteristics of people receiving medical care for HIV infection in an outpatient facility in Sicily, Italy

2016

Paola Di Carlo,1 Giuliana Guadagnino,1 Palmira Immordino,1 Giovanni Mazzola,2 Pietro Colletti,2 Ilenia Alongi,1 Lucia Adamoli,1 Francesco Vitale,1 Alessandra Casuccio1 1Department of Sciences for Health Promotion and Mother-Child Care “G D’Alessandro”, University of Palermo, 2Department of Medicinal Clinics and Emerging Diseases, “Paolo Giaccone” Polyclinic University Hospital, Palermo, Italy Aim: The authors examined a cohort of HIV-positive outpatients at the AIDS Center of Palermo University in Italy in order to identify factors related to the frequency of their visits to the outpatient facility for health care services.Methods: Two hundr…

0301 basic medicinemedicine.medical_specialtyMultivariate analysisSettore MED/17 - Malattie Infettivehard-to-reach groups030106 microbiologyHuman immunodeficiency virus (HIV)Medicine (miscellaneous)HIV Outpatient Servicemedicine.disease_causeSettore MED/42 - Igiene Generale E Applicata03 medical and health sciences0302 clinical medicineOutpatient facilityAmbulatory careAcquired immunodeficiency syndrome (AIDS)CD4+ T-cell countHealth careMedicine030212 general & internal medicinePharmacology Toxicology and Pharmaceutics (miscellaneous)Access to care; CD4+ T-cell count; Hard-to-reach groups; HIV infection; HIV outpatient service; Resource use; Social Sciences (miscellaneous); Medicine (miscellaneous); Health Policy; Pharmacology Toxicology and Pharmaceutics (miscellaneous)Original Researchaccess to carelcsh:R5-920business.industryHealth PolicyUnivariatemedicine.diseaseHIV infectionresource usePatient Preference and AdherenceEmergency medicineCohortbusinesslcsh:Medicine (General)Hard-to-reach groupSocial Sciences (miscellaneous)
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Can Integrated Care Help in Meeting the Challenges Posed on Our Health Care Systems by COVID-19? Some Preliminary Lessons Learned from the European V…

2020

The COVID-19 pandemic puts health and care systems under pressure globally. This current paper highlights challenges arising in the care for older and vulnerable populations in this context and reflects upon possible perspectives for different systems making use of nested integrated care approaches adapted during the work of the EU-funded project VIGOUR ("Evidence based Guidance to Scale-up Integrated Care in Europe", funded by the European Union's Health Programme 2014-2020 under Grant Agreement Number 826640).

Health (social science)Evidence-based practiceSociology and Political ScienceCoronavirus disease 2019 (COVID-19)030231 tropical medicineContext (language use)Pandemic management03 medical and health sciences0302 clinical medicinePerspective PaperPolitical scienceHealth carePandemicpandemic managementmedia_common.cataloged_instance030212 general & internal medicineVulnerable patientsEuropean unionintegrated caremedia_commonlcsh:R5-920business.industrySocial careHealth PolicyHealth careIntegrated careCOVID-19vulnerable patientsPublic relationshealth caresocial careIntegrated careWork (electrical)Settore MED/42integrated care; COVID-19; pandemic management; vulnerable patients; health care; social carelcsh:Medicine (General)business
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Caspase 9 and Caspase 3 Immunohistochemical Pattern in Skeletal and Cardiac Muscles at Different Times after Death: An Experimental Study on PMI Esti…

2021

(1) Background: The estimation of the post mortem interval (PMI) is a challenge for forensic pathologists because data emerging from methods commonly applied are not always conclusive, since several conditions exist that may affect the reliability of these parameters. Thus, new approaches have been proposed to overcome such a limit. In recent years, several studies have been performed on proteins analyzing their expression/degradation patterns in relation to the progressing of the post mortem interval. (2) Methods: The immunoreactivity patterns of two apoptosis mediators—Caspase 9 and Caspase 3—have been tested in order to evaluate their potential role as markers of the post mortem interval…

Pathologymedicine.medical_specialtyMedicine (General)cardiac muscleforensic sciencesClinical BiochemistryCaspase 3Article03 medical and health sciences0302 clinical medicineR5-920caspase 3Medicine030216 legal & forensic medicineskeletal musclecaspase 9Caspase030304 developmental biologyPost-mortem intervalCaspase-90303 health sciencespost mortem intervalbiologybusiness.industryCardiac muscleSkeletal musclemedicine.anatomical_structureApoptosisbiology.proteinImmunohistochemistrybusinesstime after deathDiagnostics
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Study of Uptake Mechanisms of Halloysite Nanotubes in Different Cell Lines

2021

Giuseppa Biddeci,1,2 Gaetano Spinelli,1 Marina Massaro,2 Serena Riela,2 Paola Bonaccorsi,3 Anna Barattucci,3 Francesco Di Blasi1 1Institute for Innovation and Biomedical Research (IRIB), CNR, Palermo, 90146, Italy; 2Department of Biological, Chemical and Pharmaceutical Sciences and Technologies (STEBICEF), Sect. Chemistry, University of Palermo, Palermo, 90128, Italy; 3Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Messina, 98158, ItalyCorrespondence: Francesco Di BlasiInstitute for Innovation and Biomedical Research (IRIB), CNR, Via Ugo La Malfa 153, Palermo, 90146, ItalyTel +39 0916809514Email francesco.diblasi@irib.cnr.itPurpose: Hal…

Medicine (General)media_common.quotation_subjecthalloysite nanotubes endocytic pathway cellular internalization biocompatibility hemocompatibilityBiophysicsPharmaceutical ScienceBioengineeringhalloysite nanotubesengineering.materialEndocytosisHalloysiteCell LineBiomaterialsendocytic pathwaybiocompatibilityR5-920International Journal of NanomedicineDrug DiscoveryFluorescence microscopeHumansInternalizationOriginal Researchmedia_commonNanotubesChemistryOrganic ChemistryBiological TransporthemocompatibilityGeneral MedicinePharmaceutical PreparationsCytoplasmCell cultureDrug deliveryengineeringBiophysicsClayAluminum Silicatescellular internalizationDrug carrier
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CEND1 and NEUROGENIN2 Reprogram Mouse Astrocytes and Embryonic Fibroblasts to Induced Neural Precursors and Differentiated Neurons

2015

Summary Recent studies demonstrate that astroglia from non-neurogenic brain regions can be reprogrammed into functional neurons through forced expression of neurogenic factors. Here we explored the effect of CEND1 and NEUROG2 on reprogramming of mouse cortical astrocytes and embryonic fibroblasts. Forced expression of CEND1, NEUROG2, or both resulted in acquisition of induced neuronal cells expressing subtype-specific markers, while long-term live-cell imaging highlighted the existence of two different modes of neuronal trans-differentiation. Of note, a subpopulation of CEND1 and NEUROG2 double-transduced astrocytes formed spheres exhibiting neural stem cell properties. mRNA and protein exp…

Somatic cellCellular differentiationNerve Tissue ProteinsEndogenyBiologyBiochemistryArticleMiceNeural Stem CellsBasic Helix-Loop-Helix Transcription FactorsGeneticsAnimalslcsh:QH301-705.5NeuronsGene knockdownMessenger RNAlcsh:R5-920Membrane ProteinsCell DifferentiationCell BiologyFibroblastsCellular ReprogrammingEmbryo MammalianEmbryonic stem cellNeural stem cellCell biologylcsh:Biology (General)Astrocytesembryonic structureslcsh:Medicine (General)ReprogrammingDevelopmental BiologyStem Cell Reports
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Laboratory testing in the emergency department: an Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) and Academy of Em…

2018

Abstract Background: The mainstay of patient-oriented laboratory testing in emergency settings entails selecting a number and the type of tests according to valid criteria of appropriateness. Since the pattern of urgent tests requesting is variable across different institutions, we designed a joined survey between the Academy of Emergency Medicine and Care (AcEMC) and the Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) for reaching tentative consensus about the most informative diagnostic tests in emergency settings. Methods: A survey, containing the most commonly ordered urgent laboratory tests and the relative clinical indications, was disseminated to eigh…

medicine.medical_specialty030213 general clinical medicineConsensusClinical BiochemistryMEDLINE030204 cardiovascular system & hematologyLaboratory testingClinical biochemistryLaboratory testingFibrin Fibrinogen Degradation Products03 medical and health sciences0302 clinical medicineReference ValuesSurveys and QuestionnairesmedicineHumansNational levelConsensus documentCreatine KinaseSocieties Medicallcsh:R5-920business.industryClinical Laboratory TechniquesSettore BIO/12Mean valueBiochemistry (medical)Diagnostic testEmergency departmentUrgent testingVenous ThromboembolismGeneral MedicineReference valuesFamily medicineconsensus document; emergency medicine; laboratory testing; urgent testingEmergency medicineEmergency medicineWounds and Injuriesbusinesslcsh:Medicine (General)Emergency Service HospitalClinical Chemistry and Laboratory Medicine (CCLM)
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