Search results for "NAD"

showing 10 items of 2033 documents

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

2012

OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment. RESULTS: In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carrie…

ProbandMaleBBS1Genetics and epigenetic pathways of disease [NCMLS 6]DNA Mutational AnalysisEvaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2]GenotypeEthnicityPrevalenceIsraelGeneticseducation.field_of_studyRetinitis Pigmentosa/diagnosisMiddle AgedDisease gene identificationPedigreeEuropePhenotypeFemaleMicrotubule-Associated ProteinsRetinitis PigmentosaAdultcongenital hereditary and neonatal diseases and abnormalitiesCanadaPopulationCanada/epidemiologyMicroscopy AcousticMutation MissenseEthnic GroupsDNA/geneticsBiologyEurope/epidemiologyGenomic disorders and inherited multi-system disorders [IGMD 3]Bardet-Biedl Syndrome/diagnosisBardet–Biedl syndromeRetinitis pigmentosamedicineElectroretinographyHumansAlleleeducationBardet-Biedl SyndromeIsrael/epidemiologyAllelesDNAMicrotubule-Associated Proteins/geneticsmedicine.diseaseOphthalmoscopyOphthalmologyGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
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La protección jurídica de la trashumancia aragonesa en el reino de Valencia: el Tribunal de la Bailia General

1995

A lo largo de la época foral moderna, los pastores de las Comunidades de Teruel y Albarracín descendieron todos los años a los pastos litorales valencianos, amparados por importantes franquicias que les liberaban del pago de impuestos, multas y confiscaciones por los daños ocasionados por el ganado. En este artículo analizamos tanto los privilegios de los trashumantes, como la aplicación de los mismos durante los siglos XVI y XVII a través de los procesos judiciales iniciados ante el tribunal de la Bailía General de Valencia.

Proceso judicialTrashumanciaImpuestosUNESCO::HISTORIA::Historia por épocas::Historia antiguaGanadería:HISTORIA::Historia por épocas::Historia antigua [UNESCO]
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Pathways to higher education for first and second generation immigrants in France, Switzerland and Canada: how educational tracks and aspirations mat…

2014

Despite their different histories as countries of immigration, Switzerland, France and Canada all have a sizeable immigrant population, some of which do experience obstacles in their educational and professional careers. However, both access rates of immigrant students as well as institutional routes to higher education vary remarkably between the three countries. On the one hand, France and Switzerland offer both academic and vocational routes to higher education, whereas academic routes prevail in Canada. On the other hand, immigrant students are underrepresented in Swiss and French higher education, while they generally seem to be much more successful in Canada. In this paper we wish to …

Professional careerreduction of educational inequalitiesCanadapathways to higher educationProfessional Education[SHS.EDU]Humanities and Social Sciences/Education[SHS.EDU] Humanities and Social Sciences/Educationtertiary educationInternational Comparison[ SHS.EDU ] Humanities and Social Sciences/EducationImmigrationComparisonEducational careerProfessional Trainingnative youthSchool InequalityEducational PolicyFranceStudentAccess to Higher EducationSwitzerlandImmigranteducational opportunitieseducational policies
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Antitumor effects of dehydroxymethylepoxyquinomicin, a novel nuclear factor-kappaB inhibitor, in human liver cancer cells are mediated through a reac…

2009

Activation of the nuclear transcription factor-kappa B (NF-kappa B) has been implicated in liver tumorigenesis. We evaluated the effects of a novel NF-kappa B inhibitor, dehydroxymethylepoxyquinomicin (DHMEQ), in two human liver cancer cell lines HA22T/VGH and HuH-6. DHMEQ treatment dose dependently decreased the DNA-binding capacity of the NF-kappa B p65 subunit, inhibited cell growth and proliferation, and increased apoptosis as shown by caspase activation, release of cytochrome c, poly(ADP-ribose) polymerase cleavage, and down-regulation of survivin. DHMEQ also induced a dose-dependent activation of mitogen-activated protein kinase kinase/extracellular signal-regulated kinase signaling, …

Programmed cell deathCarcinoma HepatocellularBIOLOGICAL-ACTIVITIESDrug Evaluation PreclinicalDown-RegulationAntineoplastic AgentsApoptosisBiologymedicine.disease_causeACTIVATIONchemistry.chemical_compoundHYDROGEN-PEROXIDEENDOPLASMIC-RETICULUM STRESSCell Line TumorSurvivinNADPH OXIDASEmedicineHumansOXIDATIVE STRESSProtein kinase AEndoplasmic Reticulum Chaperone BiPINDUCED APOPTOSISCell ProliferationPharmacologySettore MED/12 - GastroenterologiaDose-Response Relationship DrugUNFOLDED PROTEIN RESPONSECell growthCyclohexanonesINDUCTIONLiver NeoplasmsDEATHNF-kappa BCytochromes cMolecular biologyCell biologyEnzyme ActivationchemistryApoptosisCaspasesCancer cellBenzamidesSettore BIO/14 - FarmacologiaMolecular MedicineGrowth inhibitionMitogen-Activated Protein KinasesPoly(ADP-ribose) PolymerasesReactive Oxygen SpeciesOxidative stressMolecular pharmacology
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Toxic effects induced by vanadium on sea urchin embryos

2020

Vanadium, a naturally occurring element widely distributed in soil, water and air, has received considerable interest because its compounds are often used in different applications, from industry to medicine. While the possible medical use of vanadium compounds is promising, its potential harmful effects on living organisms are still unclear. Here, for the first time, we provide a toxicological profile induced by vanadium on Paracentrotus lividus sea urchin embryos, reporting an integrated and comparative analysis of the detected effects reflecting vanadium-toxicity. At the morphological level we found a dose-dependent induction of altered phenotypes and of skeletal malformations. At the mo…

Programmed cell deathEmbryo NonmammalianEnvironmental EngineeringHealth Toxicology and Mutagenesis0208 environmental biotechnologyVanadium-stressVanadiumchemistry.chemical_elementApoptosis02 engineering and technology010501 environmental sciences01 natural sciencesParacentrotus lividusDevelopmental abnormalityCellular stress responseHeat shock proteinAutophagyAnimalsHumansEnvironmental ChemistrySettore BIO/06 - Anatomia Comparata E Citologia0105 earth and related environmental sciencesHeat shock proteinsbiologyChemistryAutophagyPublic Health Environmental and Occupational HealthVanadiumGeneral MedicineGeneral Chemistrybiology.organism_classificationPollution020801 environmental engineeringCell biologyApoptosisParacentrotus lividus embryosToxicityParacentrotusChemosphere
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Parthenolide induces caspase-independent and AIF-mediated cell death in human osteosarcoma and melanoma cells

2013

The mechanism of the cytotoxic effect exerted by parthenolide on tumor cells is not clearly defined today. This article shows that parthenolide stimulates in human osteosarcoma MG63 and melanoma SK-MEL-28 cells a mechanism of cell death, which is not prevented by z-VAD-fmk and other caspase inhibitors. In particular treatment with parthenolide rapidly stimulated (1-2 h) reactive oxygen species (ROS) generation by inducing activation of extracellular signal-regulated kinase 1/2 (ERK 1/2) and NADPH oxidase. This event caused depletion of thiol groups and glutathione, NF-κB inhibition, c-Jun N-terminal kinase (JNK) activation, cell detachment from the matrix, and cellular shrinkage. The increa…

Programmed cell deathMAP Kinase Signaling SystemPhysiologyClinical BiochemistryAmino Acid Chloromethyl Ketoneschemistry.chemical_compoundCell Line TumorSettore BIO/10 - BiochimicaHumansParthenolidePropidium iodideFragmentation (cell biology)MelanomaCaspaseOsteosarcomaCell DeathbiologyNF-kappa BApoptosis Inducing FactorNADPH OxidasesCell BiologyCaspase InhibitorsCell biologyGene Expression Regulation NeoplasticchemistryApoptosisCell cultureCaspasesbiology.proteinApoptosis-inducing factorReactive Oxygen SpeciesSesquiterpenesParthenolide caspase-independent cell death ROS AIFJournal of Cellular Physiology
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Zinc accelerates respiratory burst termination in human PMN

2021

The respiratory burst of phagocytes is essential for human survival. Innate immune defence against pathogens relies strongly on reactive oxygen species (ROS) production by the NADPH oxidase (NOX2). ROS kill pathogens while the translocation of electrons across the plasma membrane via NOX2 depolarizes the cell. Simultaneously, protons are released into the cytosol. Here, we compare freshly isolated human polymorphonuclear leukocytes (PMN) to the granulocytes-like cell line PLB 985. We are recording ROS production while inhibiting the charge compensating and pH regulating voltage-gated proton channel (HV1). The data suggests that human PMN and the PLB 985 generate ROS via a general mechanism,…

Programmed cell deathMedicine (General)PhagocyteQH301-705.5NeutrophilsClinical BiochemistryBiochemistryIon ChannelsFlow cytometryR5-920medicineHumansPhagocyte ; Zinc ; Zinkstoffwechsel ; pH ; H<sub>v</sub>1 ; ROSBiology (General)HV1Respiratory Burstchemistry.chemical_classificationReactive oxygen speciesNADPH oxidaseInnate immune systembiologymedicine.diagnostic_testChemistrypHOrganic ChemistryNADPH OxidasesROSCell biologyRespiratory burstCytosolZincmedicine.anatomical_structurePhagocytebiology.proteinReactive Oxygen SpeciesResearch Paper
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Phytochemical indicaxanthin suppresses 7-ketocholesterol-induced THP-1 cell apoptosis by preventing cytosolic Ca(2+) increase and oxidative stress.

2012

7-Ketocholesterol (7-KC)-induced apoptosis of macrophages is considered a key event in the development of human atheromas. In the present study, the effect of indicaxanthin (Ind), a bioactive pigment from cactus pear fruit, on 7-KC-induced apoptosis of human monocyte/macrophage THP-1 cells was investigated. A pathophysiological condition was simulated by using amounts of 7-KC that can be reached in human atheromatous plaque. Ind was assayed within a micromolar concentration range, consistent with its plasma level after dietary supplementation with cactus pear fruit. Pro-apoptotic effects of 7-KC were assessed by cell cycle arrest, exposure of phosphatidylserine at the plasma membrane, varia…

Programmed cell deathPyridinesCellMedicine (miscellaneous)Apoptosismedicine.disease_causeMonocytesCell Linechemistry.chemical_compoundCytosolmedicineHumansSulfhydryl CompoundsKetocholesterolsNutrition and DieteticsChemistryPlant ExtractsMonocyteMacrophagesNF-kappa BNADPH OxidasesOpuntiaPhosphatidylserineAtherosclerosisPlaque AtheroscleroticCell biologyBetaxanthinsMitochondriaCytosolOxidative Stressmedicine.anatomical_structureApoptosisNADPH Oxidase 4FruitDietary SupplementsCalciumReactive Oxygen SpeciesIndicaxanthinOxidative stressPhytotherapyThe British journal of nutrition
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Du comté d'Argyle au royaume de Saba : Nodier et l'Écosse des origines

2011

Autre compte rendu d'Hélène Védrine (revue Romantisme) : "L’article de Sébastien Vacelet continue cette réflexion sur l’écriture viatique et son rapport à l’espace, en s’intéressant à la trilogie écossaise de Nodier : Promenade de Dieppe aux montagnes d’Écosse, Trilby et La Fée aux miettes. Cet article extrêmement renseigné – Sébastien Vacelet est l’auteur d’une thèse sur l’Écosse des romantiques dirigée par Georges Zaragoza et a organisé à Dijon une récente journée d’études sur le même thème qui fera l’objet du volume 3 des Cahiers d’études nodiéristes – montre comment les connaissances historiques et livresques de Nodier sur l’Écosse servent à bâtir une fiction des origines qui gomme les …

Promenade from Dieppe to the Mountains of ScotlandImaginaire des lieux[SHS.LITT]Humanities and Social Sciences/LiteratureÉcosseTrilbyRomantisme -- FranceCharles Nodier 1780-1844Reine de Saba[SHS.LITT] Humanities and Social Sciences/LiteraturePromenade de Dieppe aux montagnes d'ÉcosseLa Fée aux MiettesFolklore européenLégendeEspace -- Dans la littératureComputingMilieux_MISCELLANEOUS
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Sur la francisation d’un toponyme écossais : l’« Argail » de Charles Nodier

2011

International audience; This study opposes, on the one hand, the concept exposed by linguist and theoretician Charles Nodier (1780-1844) in his Elementary Notions in Linguistics (1834) referring to the inalterable spelling of proper nouns, and, on the other hand, his practice as a storyteller and creator in his Trilby (1822). We will also consider answering the question of the gallicization of the toponym "Argyle" (allusion to the lake region in Scotland), spelled "Argail" by Nodier in his tale, contrary to all expectations. "Argail" , beyond the mere process of transliteration and trompe-l’oeil justifications revealed by Nodier himself in the preface of his book, opens up to subtle manipul…

Promenade from Dieppe to the Mountains of ScotlandProper nounsTrilbyGallicizationToponyme étrangerPromenade de Dieppe aux montagnes d'ÉcosseGallic etymologyNom propre[SHS.LANGUE]Humanities and Social Sciences/LinguisticsToponym extraction060201 languages & linguisticsTrilbyÉtymologie galliquePhilosophy05 social sciencesOnomastique050301 education06 humanities and the artsFrancisationArgailOnomastic semanticsToponymieCharles Nodier 1780-1844TraductionArgyll0602 languages and literatureTranslation StudiesTraductologie littéraireArgyle0503 educationHumanities
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