Search results for "G6"

showing 9 items of 19 documents

Deficit di G6PD: diagnosi fenotipica e genetica. Prevalenza e caratterizzazione molecolare delle varianti genetiche nella popolazione pediatrica sici…

2015

Settore MED/38 - Pediatria Generale E SpecialisticaG6PD
researchProduct

Valutazione dei genotipi G6PD nella popolazione Siciliana e identificazione di una nuova variante: “G6PD*Palermo R257M”.

2008

La deficienza enzimatica di G6PDH è uno dei più comuni disordini nella popolazione siciliana in quanto più di 400 milioni di persone ne sono affette. Al fine di valutare la reale prevalenza dei casi nel nostro territorio presentiamo i dati di uno studio di genotipizzazione del locus G6PD (Xq28). 349 soggetti Siciliani di sesso maschile affetti da deficienza di G6PDH sono stati tipizzati secondo varie metodiche. Gli approcci di laboratorio sono: RFLPs (NlaIII, BclI, PstI e BspHI), PCR-Reverse Dot Blot (RDB) ed il sequenziamento diretto del gene. Le prime metodiche sono utili per definire le mutazioni già descritte e comunque le più comuni; il sequenziamento diretto è determinante per la valu…

Settore MED/38 - Pediatria Generale E Specialisticagenotipi G6PD mutazioni più frequentinuova variante.
researchProduct

Cross-Commodity Spot Price Modeling with Stochastic Volatility and Leverage For Energy Markets

2013

Spot prices in energy markets exhibit special features, such as price spikes, mean reversion, stochastic volatility, inverse leverage effect, and dependencies between the commodities. In this paper a multivariate stochastic volatility model is introduced which captures these features. The second-order structure and stationarity of the model are analyzed in detail. A simulation method for Monte Carlo generation of price paths is introduced and a numerical example is presented.

Statistics and Probability15A04Spot contractSABR volatility model01 natural sciences010104 statistics & probabilityEnergy marketVolatility swap0502 economics and businessEconometricsForward volatilityMean reversionstochastic volatilityleverage0101 mathematicsMathematics050208 financeStochastic volatilityApplied Mathematics05 social sciences91G60subordinator91G20Constant elasticity of variance modelVolatility smileOrnstein-Uhlenbeck process60H3060G1060G51Advances in Applied Probability
researchProduct

A nonstationary cylinder-based model describing group dispersal in a fragmented habitat

2014

International audience; A doubly nonstationary cylinder-based model is built to describe the dispersal of a population from a point source. In this model, each cylinder represents a fraction of the population, i.e., a group. Two contexts are considered: The dispersal can occur in a uniform habitat or in a fragmented habitat described by a conditional Boolean model. After the construction of the models, we investigate their properties: the first and second order moments, the probability that the population vanishes, and the distribution of the spatial extent of the population.

Statistics and ProbabilityPoint sourcePopulation92D25Spatial extentFragmentationStatisticsRandom cylinder92D30CylinderQuantitative Biology::Populations and EvolutionObject-based model[INFO]Computer Science [cs]Statistical physics60D05[MATH]Mathematics [math]educationMathematics60G60ta112education.field_of_studyBoolean modelApplied MathematicsFragmentation (computing)Boolean modelDispersal60K37HabitatModeling and Simulation60K9992D40Biological dispersalPopulation vanishing60G55Distribution (differential geometry)
researchProduct

Surfaces of minimal degree of tame representation type and mutations of Cohen–Macaulay modules

2017

We provide two examples of smooth projective surfaces of tame CM type, by showing that any parameter space of isomorphism classes of indecomposable ACM bundles with fixed rank and determinant on a rational quartic scroll in projective 5-space is either a single point or a projective line. For surfaces of minimal degree and wild CM type, we classify rigid Ulrich bundles as Fibonacci extensions. For the rational normal scrolls S(2,3) and S(3,3), a complete classification of rigid ACM bundles is given in terms of the action of the braid group in three strands.

[ MATH ] Mathematics [math]Pure mathematicsFibonacci numberGeneral MathematicsType (model theory)Rank (differential topology)Commutative Algebra (math.AC)01 natural sciencesMathematics - Algebraic GeometryACM bundlesVarieties of minimal degreeMathematics::Algebraic Geometry0103 physical sciencesFOS: MathematicsMathematics (all)Rings0101 mathematics[MATH]Mathematics [math]Algebraic Geometry (math.AG)MathematicsDiscrete mathematics14F05 13C14 14J60 16G60010102 general mathematicsVarietiesMCM modulesACM bundles; MCM modules; Tame CM type; Ulrich bundles; Varieties of minimal degree; Mathematics (all)Ulrich bundlesMathematics - Commutative AlgebraQuintic functionElliptic curveTame CM typeProjective lineBundles010307 mathematical physicsIsomorphismIndecomposable moduleMSC: 14F05; 13C14; 14J60; 16G60
researchProduct

Glucose 6-phosphate dehydrogenase Palermo R257M: a novel variant associated with chronic non-spherocytic haemolytic anaemia

2010

chemistry.chemical_classificationHemolytic anemiahaemolytic anaemianew DNA mutationEnzyme defectHematologyhereditary genetic defectBiologymedicine.diseaseMicrobiologychemistry.chemical_compoundSettore MED/38 - Pediatria Generale E SpecialisticaEnzymeBiochemistrychemistryenzyme defectmedicineChronic non-spherocytic haemolytic anaemiaGlucose-6-phosphate dehydrogenaseSpherocytic anemiaG6PDBritish Journal of Haematology
researchProduct

Prolonging in utero-like oxygenation after birth diminishes oxidative stress in the lung and brain of mice pups☆

2013

Background Fetal-to-neonatal transition is associated with oxidative stress. In preterm infants, immaturity of the antioxidant system favours supplemental oxygen-derived morbidity and mortality. Objectives To assess if prolonging in utero-like oxygenation during the fetal-to-neonatal transition limits oxidative stress in the lung and brain, improving postnatal adaptation of mice pups. Material and methods Inspiratory oxygen fraction (FiO2) in pregnant mice was reduced from 21% (room air) to 14% (hypoxia) 8–12 h prior to delivery and reset to 21% 6–8 h after birth. The control group was kept at 21% during the procedure. Reduced (GSH) and oxidized (GSSG) glutathione and its precursors [γ-glut…

gsr (glutathione reductase gene)pgd phosphogluconate dehydrogenase geneGPX1FiO2 inspiratory oxygen fractionγ-GC (gamma-glutamyl cysteine)PhysiologyBiochemistryMice0302 clinical medicinePregnancyquinone oxidoreductase 1) [noq1 (NAD(P)H]NAD(P)H Dehydrogenase (Quinone)gapdh glyceraldehyde-3-phosphate dehydrogenase geneP7 1 week after birthGSH (reduced glutathione)Oxidoreductases Acting on Sulfur Group Donorsme1 (malic enzyme 1 gene)glutathioneLungSpO2 oxygen saturationlcsh:QH301-705.5γ-GC–NEM gamma-glutamyl cysteine covalently bonded to N-ethylmaleimidechemistry.chemical_classification0303 health sciencesGSSG oxidized glutathioneGlutathione peroxidaseO14 (hypoxia group FiO2=14%)Brainm/z mass-to-charge ratioG18 18th day of gestationCell Hypoxia3. Good healthpgd (phosphogluconate dehydrogenase gene)In uterogclm glutamylcysteine ligase modifier subunit genesrnx1 sulfiredoxin 1 genelcsh:Medicine (General)me1 malic enzyme 1 genesrnx1 (sulfiredoxin 1 gene)gclm (glutamylcysteine ligase modifier subunit gene)γ-GC–NEM (gamma-glutamyl cysteine covalently bonded to N-ethylmaleimide)trxnd1 (thioredoxin reductase 1 gene)redox regulation03 medical and health sciencesnoq1 NAD(P)H:quinone oxidoreductase 1γ-GC gamma-glutamyl cysteineCySH L-cysteinePregnancyg6pdx (glucose 6 phosphate dehydrogenase gene)GlutathioneOxygenationgapdh (glyceraldehyde-3-phosphate dehydrogenase gene)medicine.diseaseMice Inbred C57BLOxygenP1 24 h after birthGCL glutamylcysteine ligasechemistryOxidative stressRedox regulationNEM (N-ethylmaleimide)O14 hypoxia group (FiO2=14%)GSH reduced glutathioneClinical Biochemistrymedicine.disease_causechemistry.chemical_compoundGlutathione Peroxidase GPX1GS–NEM reduced glutathione covalently bonded to N-ethylmaleimideSpO2 (oxygen saturation)oxidative stressg6pdx glucose 6 phosphate dehydrogenase genelcsh:R5-920GSSG (oxidized glutathione)G18 (18th day of gestation)gsr glutathione reductase geneGlutathionegpx1 glutathione peroxidase 1 genemedicine.anatomical_structurem/z (mass-to-charge ratio)LC–MS/MS (liquid chromatography coupled to tandem mass spectrometry)FemaleLC–MS/MS liquid chromatography coupled to tandem mass spectrometryO21 (normoxia group FiO2=21%)paO2 (partial pressure of oxygen)gpx1 (glutathione peroxidase 1 gene)Research Papernoq1 (NAD(P)H:quinone oxidoreductase 1)CySH (l-cysteine)FiO2 (inspiratory oxygen fraction)CyS–NEM (cysteine covalently bonded to N-ethylmaleimide)030225 pediatricsmedicineP7 (1 week after birth)AnimalsGCL (glutamylcysteine ligase)P1 (24 h after birth)O21 normoxia group (FiO2=21%)CyS–NEM cysteine covalently bonded to N-ethylmaleimide030304 developmental biologyGlutathione PeroxidaseLungOrganic ChemistryGS–NEM (reduced glutathione covalently bonded to N-ethylmaleimide)trxnd1 thioredoxin reductase 1 geneMolecular biologypaO2 partial pressure of oxygenAnimals NewbornGene Expression Regulationlcsh:Biology (General)NEM N-ethylmaleimidefetal-to-neonatal transitionoxygenOxidative stressFetal-to-neonatal transition
researchProduct

Ruolo citotossico del cannabinoide sintetico WIN55,212-2 in cellule di osteosarcoma MG63: coinvolgimento della proteina SPARC.

Il cannabinoide sintetico WIN 55,212-2 è un potente agonista sintetico del recettore per i cannabinoidi con spiccate potenzialità antitumorali. Gli esperimenti riportati in questa tesi sono stati condotti per delineare gli effetti indotti dal WIN sulla proliferazione, la migrazione e la sensibilizzazione alla morte indotta dalla citochina TRAIL in cellule di osteosarcoma umano MG63. I risultati ottenuti mostrano che il WIN induce un blocco del ciclo cellulare in fase G2/M che è associato all’induzione dei principali markers di ER stress (GRP78, CHOP e TRB3). Nelle cellule trattate abbiamo inoltre osservato la conversione della forma citosolica del marker autofagosomale LC3-I in LC3-II (la f…

meccanismi di morte cellularemiR-29-b1Settore BIO/10 - BiochimicaMG63ER streSPARCcannabinoidiPAR-4
researchProduct

Moderate overexpression of glucose-6-phosphate dehydrogenase improves healthspan in mice. Implications in skeletal muscle regeneration

2019

An enormous increment in the average lifespan of diverse populations occurred worldwide in the 20th century. In the last 10–15 years, the importance has changed from extending average and even maximal longevity to favoring healthy aging, and many researchers have focused their studies on the aim at extending healthspan. Prolonging lifespan without taking care of improving healthspan can derive in a long time of living with disabilities and constitutes a risk factor for the old population to suffer a higher prevalence of aging-related diseases. Indeed, modern disease treatments frequently diminish mortality without any effect on the deterioration of overall health. Understanding the mechanis…

regenerationagingUNESCO::CIENCIAS MÉDICASoxidative stresshealthspanskeletal muscle:CIENCIAS MÉDICAS [UNESCO]g6pd
researchProduct