Search results for "Tassi"

showing 10 items of 997 documents

A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

2020

Abstract An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks. The whole exome sequencing showed the de novo heterozygous variant c.1411G > C (p.Val471Leu) in the KCNC2 gene. Although this is, to our knowledge, the first case of encephalopathy associated with a KCNC2 gene variant, and further confirmatory studies are needed, previous preclinical and clinical evidence seems to suggest that KCNC…

MaleKCNC2 geneKCTD7EncephalopathyBiologyEpilepsyGeneticsmedicineHumansExomeEEGChildGeneExomeSpastic tetraplegiaGenetics (clinical)Exome sequencingGeneticsEpilepsyKv3.2ElectroencephalographyDevelopmental and epileptic encephalopathieGeneral Medicinemedicine.diseaseKCNC2Shaw Potassium ChannelsNGSMutationEuropean Journal of Medical Genetics
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Pathway of alpha-linolenic acid through the mitochondrial outer membrane in the rat liver and influence on the rate of oxidation. Comparison with lin…

1989

The movement of alpha-linolenic acid (C18:3, n-3) through the mitochondrial outer membrane to oxidation sites was studied in rat liver and compared with the movement of linoleic acid (C18:2, n-6) and oleic acid (C18:1, n-9). All differ in the degree of unsaturation, but have the same chain length and the same position of the first double bond when counted from the carboxyl end. The following results were obtained. (1) The overall beta-oxidation in total mitochondria was in the order C18:3, n-3 greater than C18:2, n-6 greater than C18:1, n-9, independent of the amount of albumin in the medium. (2) The rate of formation of acylcarnitine from acyl-CoA was higher with oleoyl-CoA than with linol…

MaleLinolenic AcidsLinoleic acidPotassiumchemistry.chemical_elementMitochondria LiverOleic AcidsMitochondrionIn Vitro TechniquesBiochemistryLinoleic Acidchemistry.chemical_compoundCarnitinemedicineAnimalsCarnitineMolecular BiologyDegree of unsaturationCarnitine O-PalmitoyltransferaseChemistryalpha-Linolenic acidBiological TransportRats Inbred StrainsCell BiologyIntracellular MembranesPeroxisomeRatsOleic acidBiochemistryLinoleic Acidslipids (amino acids peptides and proteins)Acyl Coenzyme AOxidation-Reductionmedicine.drugOleic AcidResearch ArticleThe Biochemical journal
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Toxicological profile of cereulide, the Bacillus cereus emetic toxin, in functional assays with human, animal and bacterial cells

2007

International audience; Some strains of the endospore-forming bacterium Bacillus cereus produce a heat-stable ionophoric peptide, cereulide, of high human toxicity. We assessed cell toxicity of cereulide by measuring the toxicities of crude extracts of cereulide producing and non-producing strains of B. cereus, and of pure cereulide, using cells of human, animal and bacterial origins. Hepatic cell lines and boar sperm, with cytotoxicity and sperm motility, respectively, as the end points, were inhibited by <= 1 nM of cereulide present as B. cereus extract. RNA synthesis and cell proliferation in HepG2 cells was inhibited by 2 nM of cereulide. These toxic effects were explainable by the acti…

MaleLuminescenceSwineCytotoxicityBacillus cereusCYP1A1Toxicologymedicine.disease_causeHepa-1Ames testPotassium carrierchemistry.chemical_compoundMiceDepsipeptidesBioassayRNA Neoplasm0303 health sciencesbiologyMotilityAliivibrio fischeriSpermatozoaAmes testCereusBiochemistry[SDV.TOX]Life Sciences [q-bio]/ToxicologySperm MotilityBiological AssayERODBioluminescenceHepG2CereulideCell SurvivalBacterial ToxinsVibrio fischeriHEp-2Microbiology03 medical and health sciencesBacillus cereusCell Line TumorIonophoremedicineAnimalsHumansRNA synthesis030304 developmental biologyCell ProliferationDose-Response Relationship Drug030306 microbiologyToxinMutagenicity TestsfungiMicronucleus assayCereulidecomet test (SCG)biology.organism_classificationComet assaychemistryHepatocytesbacteriaBoar spermGenotoxicityGenotoxicity
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Inhibitory effect of caffeic acid phenethyl ester, a plant-derived polyphenolic compound, on rat intestinal contractility

2009

Abstract Caffeic acid phenethyl ester (CAPE) exerts pharmacological actions (e.g. anti-inflammatory, chemopreventive) which are relevant for potential clinical application in the digestive tract. However, no study has been published on its possible effects on intestinal motility, to date. In the present study, we investigated the effect of this plant-derived polyphenolic compound on the spontaneous contractions of the rat isolated ileum. CAPE reduced (in a tetrodotoxin-insensitive manner) spontaneous ileal contractions and this effect was reduced by the l -type Ca 2+ channel blocker nifedipine and the chelant of calcium ethylenediaminetetraacetic acid. However, the effect of CAPE was not mo…

MaleMuscle Relaxationchemistry.chemical_elementPharmacologyCalciumIn Vitro TechniquesApaminPotassium Chloridechemistry.chemical_compoundPhentolamineCaffeic AcidsPhenolsIleumCaffeic acidmedicineAnimalsChannel blockerRats WistarCaffeic acid phenethyl esterPharmacologyFlavonoidsVoltage-dependent calcium channelPolyphenolsPhenylethyl AlcoholPlantsRatschemistryBiochemistryCyclopiazonic acidmedicine.drugMuscle Contraction
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Role of Ca2+-Activated K+ Channels on Adrenergic Responses of Human Saphenous Vein

2006

Background We studied the participation of K + channels on the adrenergic responses in human saphenous veins as well as the intervention of dihydropyridine-sensitive Ca 2+ channels on modulation of adrenergic responses by K + channels blockade. Methods Saphenous vein rings were obtained from 40 patients undergoing coronary artery bypass surgery. The vein rings were suspended in organ bath chambers for isometric recording of tension. Results Iberiotoxin (10 −7 mol/L), an inhibitor of large conductance Ca 2+ -activated K + channels, and charybdotoxin (10 −7 mol/L), an inhibitor of both large and intermediate conductance Ca 2+ -activated K + channels, enhanced the contractions elicited by elec…

MaleNifedipineCharybdotoxinAdrenergicStimulationIn Vitro TechniquesApaminMuscle Smooth VascularNorepinephrinePotassium Channels Calcium-Activatedchemistry.chemical_compoundInternal MedicinemedicineHumansSaphenous VeinChannel blockerbusiness.industryDihydropyridineMiddle AgedIberiotoxinCalcium Channel BlockersElectric StimulationchemistryVasoconstrictionMuscle TonusAnesthesiaBiophysicsFemalemedicine.symptombusinessMuscle contractionmedicine.drugAmerican Journal of Hypertension
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Nitric oxide induces muscular relaxation via cyclic GMP-dependent and -independent mechanisms in the longitudinal muscle of the mouse duodenum

2003

The aim of this study was to investigate, in mouse duodenum, the role of nitric oxide (NO) in the relaxation of longitudinal muscle evoked by nerve activation and the coupled action mechanism. Electrical field stimulation (EFS; 0.5ms, 10-s train duration, supramaximal voltage, at various frequencies) under nonadrenergic noncholinergic conditions evoked muscular relaxation occasionally followed, at the higher stimulus frequencies, by rebound contractions. Inhibition of the synthesis of NO by Nω-nitro-L-arginine methyl ester (L-NAME; 100μM) virtually abolished the evoked relaxation. The relaxation was reduced also by apamin (0.1μM) and by 1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one (ODQ; 1μM)…

MaleNitroprussideCancer Researchmedicine.medical_specialtyPotassium ChannelsDuodenumPhysiologyMuscle RelaxationClinical BiochemistryNonadrenergic noncholinergic relaxationStimulationStimulus (physiology)Inhibitory postsynaptic potentialApaminSettore BIO/09 - FisiologiaBiochemistryNitric oxideMicechemistry.chemical_compoundInternal medicineK+ -channelmedicineAnimalsCyclic GMPMolecular BiologyDose-Response Relationship DrugMuscle SmoothNitric oxideElectric StimulationDose–response relationshipEndocrinologychemistryTetrodotoxinSodium nitroprussideMouse duodenummedicine.drugNitric Oxide
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Mechanisms underlying the nitric oxide inhibitory effects in mouse ileal longitudinal muscle

2005

We investigated the mechanisms involved in the nitric oxide (NO)-induced inhibitory effects on longitudinal smooth muscle of mouse ileum, using organ bath technique. Exogenously applied NO, delivered as sodium nitroprusside (SNP; 0.1–100 µmol/L) induced a concentration-dependent reduction of the ileal spontaneous contractions. 1H-[1,2,4]oxadiazolol[4,3,a]quinoxalin-1-one (ODQ; 1 µmol/L), a guanilyl cyclase inhibitor, reduced the SNP-induced effects. Tetraethylammonium chloride (20 mmol/L), a non-selective K+ channel blocker, and charybdotoxin (0.1 µmol/L), blocker of large conductance Ca2+-dependent K+ channels, significantly reduced SNP-induced inhibitory effects. In contrast, apamin (0.1…

MaleNitroprussideThapsigarginCharybdotoxinPhysiologyMouse ileumIn Vitro TechniquesPharmacologyApaminSettore BIO/09 - FisiologiaPotassium channelsMicePotassium Channels Calcium-Activatedchemistry.chemical_compoundIleumPhysiology (medical)Cyclic GMP-Dependent Protein KinasesPotassium Channel BlockersmedicineAnimalsNitric Oxide DonorsChannel blockerCyclic GMPPharmacologyRyanodineRyanodine receptorCalcium storeMuscle SmoothPotassium channel blockerNitric oxideGeneral MedicineTetraethylammonium chlorideMice Inbred C57BLchemistryCalciumSodium nitroprussideMuscle ContractionSignal Transductionmedicine.drug
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Ca2+-activated K+ channels mediate relaxation of forearm veins in chronic renal failure

2003

In arteries, agonists such as acetylcholine release an endothelium-derived hyperpolarizing factor (EDHF) that is neither nitric oxide nor prostacyclin.To examine the responses to acetylcholine in segments of forearm veins from patients with chronic renal failure who either had never received dialysis or had undergone long-term dialysis, and to determine the contribution of nitric oxide and EDHF to endothelium-dependent relaxation in veins from patients with chronic renal failure.Isometric tension was recorded in rings of forearm vein from 34 non-dialysed patients, 27 dialysed patients and 14 multiorgan donors (controls).Relaxation in response to acetylcholine was reduced in veins of non-dia…

MaleNitroprussidemedicine.medical_specialtyPhysiologyVasodilator AgentsVasodilationIn Vitro TechniquesNitric OxideVeinsNitric oxideBiological FactorsPotassium Channels Calcium-Activatedchemistry.chemical_compoundForearmQuinoxalinesInternal medicineInternal MedicinemedicineHumansEnzyme InhibitorsVeinOxadiazolesomega-N-MethylarginineVascular diseasebusiness.industryMiddle Agedmedicine.diseaseAcetylcholinePotassium channelVasodilationForearmEndocrinologymedicine.anatomical_structurechemistrycardiovascular systemKidney Failure ChronicFemaleNitric Oxide SynthaseCardiology and Cardiovascular MedicinebusinessAcetylcholineKidney diseasemedicine.drugJournal of Hypertension
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Comparative relaxant effects of the NO donors sodium nitroprusside, DEA/NO and SPER/NO in rabbit carotid arteries.

1999

1. Sodium nitroprusside (SNP, 10(-9)-3x10(-4) M), diethylamine/NO complex (DEA/NO, 10(-9)-10(-4) M) and spermine/NO complex (SPER/NO, 10(-8)-3x10(-4) M) induced concentration-dependent relaxation of isolated rabbit carotid arteries precontracted with KCl (50 mM) or with histamine (3x10(-6) M). 2. In KCl-precontracted arteries the order of potency was SNP=DEA/NO>SPER/NO, and in histamine-precontracted arteries the order of potency was SNP>DEA/NO>SPER/NO. Relaxations to the three NO donors were significantly higher in histamine-precontracted arteries than in KCl-precontracted arteries. 3. The guanylyl cyclase inhibitor methylene blue (10(-5) M) significantly inhibited relaxations to the three…

MaleNitroprussidemedicine.medical_specialtyVasodilator AgentsNitric oxidePotassium Chloridechemistry.chemical_compoundInternal medicinemedicineAnimalsNitric Oxide DonorsCyclic GMPPharmacologyLagomorphabiologyDose-Response Relationship Drugbiology.organism_classificationmedicine.anatomical_structureEndocrinologyCarotid ArteriesHydrazineschemistryAnesthesiaCirculatory systemNitrogen OxidesSpermineSodium nitroprussideRabbitsMethylene blueHistamineBlood vesselArterymedicine.drugGeneral pharmacology
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Inhibitory purinergic transmission in mouse caecum: Role for P2Y1 receptors as prejunctional modulators of ATP release

2007

Using conventional microelectrode recording techniques, we investigated, in the circular muscle of the mouse caecum, the neurotransmitter(s) involved in the neurally-evoked inhibitory junction potentials (IJPs) and the existence of possible prejunctional mechanisms controlling neurotransmitter release. Electrical field stimulation with single pulses elicited IJPs, consisting only of a "fast" hyperpolarization, while using train stimuli (30-50 Hz) the initial fast hyperpolarization was followed by a slower hyperpolarization. The fast and the slow component were selectively antagonized by apamin, a blocker of calcium-activated potassium channels, and N(omega)-nitro-l-arginine methyl ester (l-…

MaleP2Y receptormedicine.medical_specialtyAntineoplastic AgentsSuraminNitric OxideApaminSettore BIO/09 - FisiologiaSynaptic TransmissionEnteric Nervous SystemMembrane PotentialsMiceReceptors Purinergic P2Y1chemistry.chemical_compoundAdenosine TriphosphateInternal medicinePurinergic P2 Receptor AntagonistsmedicineAnimalsPPADSReceptorCecumMembrane potentialReceptors Purinergic P2General NeurosciencePurinergic receptorMembrane ProteinsHyperpolarization (biology)Electric StimulationReceptors Purinergic P2Y12Potassium channelMice Inbred C57BLEndocrinologyApaminchemistryBiophysicsenteric nerves intestinal muscle ATP purinergic receptors inhibitory junction potentialsNeuroscience
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