Search results for "membrane potentials"

showing 10 items of 149 documents

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

2018

International audience; Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype-phenotype correlations further, we assembled a cohort of 33 unpublished patients with novel pathogenic or likely pathogenic variants: 19 probands carrying 14 different de novo mutations and four families with dominantly inherited variants segre…

0301 basic medicineProbandMaleModels MolecularPotassium Channels[SDV]Life Sciences [q-bio]Medizinmedicine.disease_causeEpileptogenesisMembrane PotentialsEpilepsy0302 clinical medicineHyperpolarization-Activated Cyclic Nucleotide-Gated ChannelsMissense mutationChildGeneticsMutationMiddle AgedPhenotype3. Good healthTransmembrane domainclinical spectrum; epilepsy; HCN1; intellectual disability; ion channelintellectual disabilityChild PreschoolEpilepsy GeneralizedFemaleSpasms InfantileAdultAdolescentCHO CellsBiology03 medical and health sciencesYoung AdultCricetulusHCN1medicineAnimalsHumansGeneralized epilepsyGenetic Association StudiesAgedInfantmedicine.diseaseElectric Stimulationclinical spectrum030104 developmental biologyMutationion channelMutagenesis Site-DirectedepilepsyNeurology (clinical)030217 neurology & neurosurgery
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The Severity of Acute Stress Is Represented by Increased Synchronous Activity and Recruitment of Hypothalamic CRH Neurons

2016

The hypothalamo-pituitary-adrenocortical (HPA) axis regulates stress physiology and behavior. To achieve an optimally tuned adaptive response, it is critical that the magnitude of the stress response matches the severity of the threat. Corticotropin-releasing hormone (CRH) released from the paraventricular nucleus of the hypothalamus is a major regulator of the HPA axis. However, how CRH-producing neurons in an intact animal respond to different stressor intensities is currently not known. Using two-photon calcium imaging on intact larval zebrafish, we recorded the activity of CRH cells, while the larvae were exposed to stressors of varying intensity. By combining behavioral and physiologic…

0301 basic medicineendocrine systemmedicine.medical_specialtyHydrocortisoneCorticotropin-Releasing HormoneHypothalamusRegulatorMotor ActivityMembrane PotentialsAnimals Genetically Modified03 medical and health sciencesCorticotropin-releasing hormoneCalcium imagingStress PhysiologicalInternal medicineAvoidance LearningmedicineAnimalsZebrafishHeat-Shock ProteinsZebrafishHydrocortisoneNeuronsMembrane potentialbiologyGeneral NeuroscienceArticlesbiology.organism_classificationLuminescent Proteins030104 developmental biologymedicine.anatomical_structureEndocrinologyGene Expression Regulationnervous systemHypothalamusLarvaCalciumPsychologyNucleusNeurosciencehormones hormone substitutes and hormone antagonistsmedicine.drugThe Journal of Neuroscience
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The potassium channels TASK2 and TREK1 regulate functional differentiation of murine skeletal muscle cells.

2015

Two-pore domain potassium (K2P) channels influence basic cellular parameters such as resting membrane potential, cellular excitability, or intracellular Ca2+-concentration [Ca2+]i. While the physiological importance of K2P channels in different organ systems (e.g., heart, central nervous system, or immune system) has become increasingly clear over the last decade, their expression profile and functional role in skeletal muscle cells (SkMC) remain largely unknown. The mouse SkMC cell line C2C12, wild-type mouse muscle tissue, and primary mouse muscle cells (PMMs) were analyzed using quantitative PCR, Western blotting, and immunohistochemical stainings as well as functional analysis includin…

0301 basic medicinemedicine.medical_specialtyPhysiologyCellular differentiationMuscle Fibers SkeletalMedizinDown-RegulationBiologyCell LineMembrane Potentials03 medical and health sciencesMyoblast fusionMicePotassium Channels Tandem Pore DomainInternal medicinemedicineMyocyteAnimalsHumansPatch clampMuscle SkeletalMyogenesisSkeletal muscleCell DifferentiationCell BiologyPotassium channelCell biologyUp-Regulation030104 developmental biologyEndocrinologymedicine.anatomical_structurePotassiumC2C12American journal of physiology. Cell physiology
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Cannabinoid type 1 receptor modulates intestinal propulsion by an attenuation of intestinal motor responses within the myenteric part of the peristal…

2007

Cannabinoid-1 (CB1) receptor activation affects gastrointestinal propulsion in vivo. It was our aim to further characterize the involved myenteric mechanisms in vivo and in vitro. In CB1(-/-) mice and wild-type littermates we performed in vivo transit experiments by charcoal feeding and in vitro electrophysiological recordings in mouse small intestinal smooth muscle. Ascending neuronal contraction (ANC) following electrical field stimulation was studied in rat ileum in a partitioned organ bath separating the aboral stimulation site from the oral recording site. The knockout animals displayed an accelerated upper gastrointestinal transit compared to control animals. The CB1 receptor antagoni…

AM251Malemedicine.medical_specialtyCannabinoid receptorPhysiologyPolyunsaturated Alkamidesmedicine.medical_treatmentNeuromuscular JunctionMotilityStimulationArachidonic AcidsBiologyNeuromuscular junctionMembrane PotentialsMiceOrgan Culture TechniquesPiperidinesReceptor Cannabinoid CB1Internal medicineCannabinoid Receptor ModulatorsReflexmedicineAnimalsRNA MessengerIntestinal MucosaRats WistarReceptorMice KnockoutMyoelectric Complex MigratingEndocrine and Autonomic SystemsReverse Transcriptase Polymerase Chain ReactionGastroenterologyMuscle SmoothEndocannabinoid systemElectric StimulationRatsIntestinesEndocrinologymedicine.anatomical_structurePyrazolesPeristalsisCannabinoidmedicine.drugEndocannabinoidsNeurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society
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Physiological and metabolic actions of mycophenolate mofetil on cultured newborn rat cardiomyocytes in normoxia and in simulated ischemia

2004

Mycophenolate mofetil (MMF) is a new immunosuppressive drug used to reduce acute rejection after heart transplantation. As with other immunosuppressive drugs, MMF therapy is associated with several adverse effects. However, the direct effects of MMF on myocardial tissue has not been yet evaluated. The aim of the work was thus to evaluate the effects of MMF on isolated cardiomyocytes (CM) in normal conditions and in an in vitro model of simulated ischemia (SI; substrate-free hypoxia) and reperfusion (R; reoxygenation). Myocyte-enriched cultures were prepared from newborn rat heart ventricles. The transmembrane potentials were recorded using conventional microelectrodes and the cell contracti…

Adenosinemedicine.medical_treatmentMyocardial IschemiaIschemiaMyocardial ReperfusionPharmacologyMycophenolateXanthineMembrane Potentialschemistry.chemical_compoundmedicineAnimalsMyocytes CardiacPharmacology (medical)Rats WistarCells CulturedHypoxanthinePharmacologyHeart transplantationHypoxanthineMycophenolic AcidHypoxia (medical)medicine.diseaseXanthineCell HypoxiaRatsElectrophysiologyImmunosuppressive drugAnimals NewbornchemistryAnesthesiamedicine.symptomImmunosuppressive AgentsFundamental and Clinical Pharmacology
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Inward currents in primary nociceptive neurons of the rat and pain sensations in humans elicited by infrared diode laser pulses

2002

Radiant heat is often used to study nociception in vivo. We now used infrared radiation generated by a diode laser stimulator (wavelength 980 nm) to investigate transduction mechanisms for noxious heat stimuli in acutely dissociated dorsal root ganglion (DRG) neurons of rats in vitro. The laser stimulator offered the unique opportunity to test whether the same stimuli also elicit pain sensations in humans. A specific heat-induced current (I(heat)) was elicited in six of 13 small DRG neurons (diameteror =30 microm) tested in the whole-cell configuration of the patch-clamp mode. Current responses in the seven heat-insensitive neurons were within the range explainable by the temperature depend…

AdultMaleHot TemperaturePatch-Clamp TechniquesPainSensory systemIn Vitro TechniquesMembrane PotentialsRats Sprague-DawleyDorsal root ganglionEvoked Potentials SomatosensoryGanglia SpinalNoxious stimulusmedicinePsychophysicsAnimalsHumansPatch clampNeurons AfferentSkinChemistryLasersNociceptorsMiddle AgedSensory neuronRatsElectrophysiologyKineticsAnesthesiology and Pain MedicineNociceptionmedicine.anatomical_structureNeurologyFemaleNeurology (clinical)Transduction (physiology)Neuroscience
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The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

2013

Long QT syndromes (LQTS) are heritable diseases characterized by prolongation of the QT interval on an electrocardiogram, which often leads to syncope and sudden cardiac death. Here we report the generation of induced pluripotent stems (iPS) cells from two patients with LQTS type 3 carrying a different point mutation in a sodium channel Nav1.5 (p.V240M and p.R535Q) and functional characterization of cardiomyocytes (CM) derived from them. The iPS cells exhibited all characteristic properties of pluripotent stem cells, maintained the disease-specific mutation and readily differentiated to CM. The duration of action potentials at 50% and 90% repolarization was longer in LQTS-3 CM as compared t…

AdultMalePluripotent Stem Cellsmedicine.medical_specialtyLong QT syndromeCellular differentiationlcsh:MedicineAction PotentialsNAV1.5 Voltage-Gated Sodium ChannelQT intervalMembrane PotentialsNAV1.5 Voltage-Gated Sodium ChannelInternal medicinemedicineRepolarizationHumansPoint MutationMyocytes CardiacInduced pluripotent stem celllcsh:ScienceCells CulturedMultidisciplinarybusiness.industryPoint mutationSodium channellcsh:RCell Differentiationmedicine.diseaseLong QT SyndromeEndocrinologylcsh:QFemalebusinessResearch ArticlePLoS ONE
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Prospective study of morphologic and functional changes with time in the mucosa of the ileoanal pouch: functional appraisal using transmucosal potent…

1998

PURPOSE: This study was undertaken to investigate the morphologic and functional changes with time in the mucosa of the ileoanal pouch. METHODS: A morphologic study by histopathologic analysis, mucosal morphometry, and mucin histochemistry and a functional study by analysis of transmucosal potential difference were performed in 27 patients with an ileoanal J-pouch after restorative proctocolectomy for ulcerative colitis. In 19 patients with a normal ileoanal pouch, two prospective follow-up analyses were performed after median functional pouch times of 14 and 39 months. We also evaluated eight patients with the diagnosis of pouchitis (median follow-up, 52.5 months). RESULTS: In the normal i…

AdultMalemedicine.medical_specialtyColonmedicine.medical_treatmentRectumGastroenterologyMembrane PotentialsAtrophyInternal medicinemedicineHumansProspective StudiesVillous atrophyIntestinal MucosaProspective cohort studyAgedInflammationProctocolectomybusiness.industryHistocytochemistryProctocolectomy RestorativeGastroenterologyMucinsGeneral MedicinePouchitisMiddle Agedmedicine.diseaseUlcerative colitismedicine.anatomical_structureColitis UlcerativeFemalePouchbusinessDiseases of the colon and rectum
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Non-classic cystic fibrosis associated with D1152HCFTR mutation

2010

Burgel P-R, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labbe A, Domblides P, Vic P, Dagorne M, Reynaud-Gaubert M, Counil F, Varaigne F, Bienvenu T, Bellis G, Dusser D. Non-classic cystic fibrosis associated with D1152H CFTR mutation. Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. Methods: Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared with those of pancreatic insufficient (PI) and pancreatic sufficient (PS) cystic fibrosis (CF)…

AdultMalemedicine.medical_specialtyConsensusPancreatic diseaseAdolescentCystic FibrosisGENETICSmedicine.medical_treatmentCystic Fibrosis Transmembrane Conductance RegulatorCystic fibrosisGastroenterologyMembrane PotentialsCohort StudiesYoung AdultChloridesInterquartile rangeForced Expiratory VolumeInternal medicineCYSTIC_FIBROSISHumansMedicineLung transplantationGenetic Predisposition to DiseaseChildSweatExocrine pancreatic insufficiencyMUTATIONGenetics (clinical)AgedBronchiectasisbiologybusiness.industryHomozygoteMiddle Agedmedicine.diseaseCongenital absence of the vas deferensCystic fibrosis transmembrane conductance regulatorNasal MucosaEndocrinologyAmino Acid SubstitutionChild Preschoolbiology.proteinFemalebusiness
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Modulation of spinal cord excitability by subthreshold repetitive transcranial magnetic stimulation of the primary motor cortex in humans.

2001

Repetitive transcranial magnetic stimulation (rTMS) allows the modulation of intra-cortical excitability and may therefore affect the descending control of spinal excitability. We applied rTMS at subthreshold intensity and 1 Hz frequency for 10 min to the left primary motor cortex representation of the flexor carpi radialis muscle (FCR) in 10 subjects and assessed the H and M responses to median nerve stimulation before and after the rTMS. Following rTMS, H wave thresholds significantly reduced by ∼20%. Maximal H but not M wave amplitude significantly increased over the baseline, so that H/M amplitude ratio was increased by 41%. Sham stimulation did not induce any noticeable change in M or …

AdultMalemedicine.medical_treatmentFlexor carpi radialis muscleNeural ConductionPyramidal TractsStimulationElectric Stimulation TherapyReflex modulationMembrane Potentialsmental disordersmedicineReaction TimeHumansH reflexMuscle SkeletalNeuronsPyramidal tractsMovement Disordersbusiness.industryElectromyographyReflex Monosynapticmusculoskeletal neural and ocular physiologyGeneral NeuroscienceMotor CortexSpinal cordTranscranial Magnetic StimulationTranscranial magnetic stimulationmedicine.anatomical_structurenervous systemSpinal CordMuscle SpasticityAnesthesiaPrimary motor cortexH-reflexbusinessNeurosciencepsychological phenomena and processesMotor cortexMuscle ContractionNeuroreport
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