Search results for "ion channel"

showing 10 items of 567 documents

Lack of SCN1A Mutations in Familial Febrile Seizures

2002

Summary:  Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…

GAMMA-2-SUBUNITMaleFebrile convulsionsDNA Mutational Analysismedicine.disease_causePolymerase Chain ReactionSodium ChannelsFebrileEpilepsyExonPLUSDNA Mutational AnalysisGene duplicationChildIndex caseChromatography High Pressure LiquidGeneticsChromatographyMutationIdiopathic epilepsyExonsNeurologyIon channelsHigh Pressure LiquidFemaleGeneralized epilepsy with febrile seizures plusMutationsAdultAdolescentGENERALIZED EPILEPSYNerve Tissue ProteinsSeizures FebrileSeizuresGeneticsmedicineHumansFamilybusiness.industryCONVULSIONSGene AmplificationSODIUM-CHANNELmedicine.diseaseGENEDYSFUNCTIONNAV1.1 Voltage-Gated Sodium ChannelFebrile convulsions; Genetics; Idiopathic epilepsy; Ion channels; Mutations; Adolescent; Adult; Child; Chromatography High Pressure Liquid; DNA Mutational Analysis; Exons; Female; Gene Amplification; Humans; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Polymerase Chain Reaction; Seizures Febrile; Sodium Channels; FamilyMutationMyoclonic epilepsyNeurology (clinical)businessEpilepsia
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From non-excitable single-cell to multicellular bioelectrical states supported by ion channels and gap junction proteins: Electrical potentials as di…

2019

Endogenous bioelectric patterns within tissues are an important driver of morphogenesis and a tractable component of a number of disease states. Developing system-level understanding of the dynamics by which non-neural bioelectric circuits regulate complex downstream cascades is a key step towards both, an evolutionary understanding of ion channel genes, and novel strategies in regenerative medicine. An important capability gap is deriving rational modulation strategies targeting individual cells' bioelectric states to achieve global (tissue- or organ-level) outcomes. Here, we develop an ion channel-based model that describes multicellular states on the basis of spatio-temporal patterns of …

Gap Junction Proteins030303 biophysicsCellBiophysicsCell CommunicationRegenerative medicineModels BiologicalConnexinsIon ChannelsCell membrane03 medical and health sciencesmedicineMorphogenesisAnimalsHumansMolecular BiologyIon channelPhysics0303 health sciencesCell potentialElectrical potentialsGap JunctionsElectrophysiological PhenomenaMulticellular organismmedicine.anatomical_structureSingle-Cell AnalysisNeuroscienceSignal TransductionProgress in biophysics and molecular biology
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The diversity of GABAA receptors. Pharmacological and electrophysiological properties of GABAA channel subtypes.

1998

The amino acid gamma-aminobutyric-acid (GABA) prevails in the CNS as an inhibitory neurotransmitter that mediates most of its effects through fast GABA-gated Cl(-)-channels (GABAAR). Molecular biology uncovered the complex subunit architecture of this receptor channel, in which a pentameric assembly derived from five of at least 17 mammalian subunits, grouped in the six classes alpha, beta, gamma, delta, sigma and epsilon, permits a vast number of putative receptor isoforms. The subunit composition of a particular receptor determines the specific effects of allosterical modulators of the GABAARs like benzodiazepines (BZs), barbiturates, steroids, some convulsants, polyvalent cations, and et…

Gene isoformMacromolecular SubstancesProtein ConformationProtein subunitNeuroscience (miscellaneous)LoreclezoleConvulsantsBiologyInhibitory postsynaptic potentialGABAA-rho receptorSubstrate SpecificityGABA AntagonistsCellular and Molecular NeuroscienceBenzodiazepinesMiceChloride ChannelsmedicineAnimalsHumansProtein IsoformsReceptorGABA Agonistsgamma-Aminobutyric AcidAnestheticsMice KnockoutBinding SitesIon TransportGABAA receptorReceptors GABA-ARecombinant ProteinsRatsElectrophysiologyNeurologyBiochemistryBarbituratesSteroidsHeterologous expressionIon Channel Gatingmedicine.drugMolecular neurobiology
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A Trajectory-Driven 3D Non-Stationary mm-Wave MIMO Channel Model for a Single Moving Point Scatterer

2021

This paper proposes a new non-stationary three-dimensional (3D) channel model for a physical millimeter wave (mm-Wave) multiple-input multiple-output (MIMO) channel. This MIMO channel model is driven by the trajectory of a moving point scatterer, which allows us to investigate the impact of a single moving point scatterer on the propagation characteristics in an indoor environment. Starting from the time-variant (TV) channel transfer function, the temporal behavior of the proposed non-stationary channel model has been analyzed by studying the TV micro-Doppler characteristics and the TV mean Doppler shift. The proposed channel model has been validated by measurements performed in an indoor e…

General Computer ScienceComputer scienceAcousticsMIMOData_CODINGANDINFORMATIONTHEORYMotion capturesymbols.namesakemm-Wave channelsInertial measurement unitGeneral Materials Sciencemean Doppler shiftVDP::Teknologi: 500::Informasjons- og kommunikasjonsteknologi: 550Computer Science::Information Theorymultipath propagationGeneral EngineeringPendulumnon-stationary channelsTK1-9971MIMO channelTrajectorysymbolsSpectrogramElectrical engineering. Electronics. Nuclear engineeringchannel measurementsDoppler effectCommunication channelIEEE Access
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Calcium binding and ionic conduction in single conical nanopores with polyacid chains: model and experiments.

2012

Calcium binding to fixed charge groups confined over nanoscale regions is relevant to ion equilibrium and transport in the ionic channels of the cell membranes and artificial nanopores. We present an experimental and theoretical description of the dissociation equilibrium and transport in a single conical nanopore functionalized with pH-sensitive carboxylic acid groups and phosphonic acid chains. Different phenomena are simultaneously present in this basic problem of physical and biophysical chemistry: (i) the divalent nature of the phosphonic acid groups fixed to the pore walls and the influence of the pH and calcium on the reversible dissociation equilibrium of these groups; (ii) the asym…

General Physics and AstronomyIonic bondingFunctionalizedDissociation (chemistry)Conical nanoporeNanoscale regionschemistry.chemical_compoundNanoporesI - V curveIonic conductivityGeneral Materials ScienceConical nanoporesPhosphonate groupCalcium concentrationChemistryGeneral EngineeringPH effectsPartition functionsIonic channelsIon equilibriumReversible dissociationChemical physicsFunctional groupsThermodynamicsDesalination membranesIon bindingPorosityDissociationBiophysical chemistryDissociation equilibriaInorganic chemistrychemistry.chemical_elementWater filtrationCalciumIonNernst-Planck equationsApplied potentialsIon bindingCarboxylationPhosphonic acidsComputer SimulationCarboxylateParticle SizeControlled drug releaseCurrent voltage curveIonsBinding SitesFixed charge densityPH sensitiveCarboxylic acidsDesalinationPhosphonic acid groupsPoly acidsElectric ConductivityCarboxylic acid groupsFixed ChargesNanostructuresCell membranesCurrent-voltage curvesModels ChemicalQuantum theoryFISICA APLICADACalciumBiological ion channelsCalcium bindingIonic currentCytologyPore wallStatistical mechanicsAcidsACS nano
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Polycystin-1 downregulation induces ERK-dependent mTOR pathway activation in a cellular model of psoriasis

2018

Psoriatic plaques tend to localize to the knees and elbows, areas that are particularly subject to mechanical stress resulting from bending and friction. Moreover, plaques often develop at sites of mechanical trauma or injury (Koebner phenomenon). Nevertheless, mechanotransduction has never been linked to psoriasis. Polycystins (polycystin-1, PC1; polycystin-2, PC2) are mechanosensitive molecules that function as key regulators of cellular mechanosensitivity and mechanotransduction. The aim of this in vitro study was to investigate the role of polycystins in the development of psoriasis. We showed that PC1 knockdown in HaCaT cells led to an elevated mRNA expression of psoriasis-related biom…

Genetic Markers0301 basic medicineMAPK/ERK pathwayendocrine systemTRPP Cation ChannelsMAP Kinase Signaling SystemDown-RegulationModels BiologicalCell Line03 medical and health sciences0302 clinical medicineDownregulation and upregulationCell MovementPsoriasismedicineHumansPsoriasisMechanotransductionMolecular BiologyPI3K/AKT/mTOR pathwayCell ProliferationGene knockdownCell growthChemistryTOR Serine-Threonine Kinasesmedicine.diseaseCell biologyHaCaT030104 developmental biologyGene Knockdown Techniques030220 oncology & carcinogenesisMolecular MedicineBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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Disorder-induced single-mode transmission.

2017

Localized states trap waves propagating in a disordered potential and play a crucial role in Anderson localization, which is the absence of diffusion due to disorder. Some localized states are barely coupled with neighbours because of differences in wavelength or small spatial overlap, thus preventing energy leakage to the surroundings. This is the same degree of isolation found in the homogeneous core of a single-mode optical fibre. Here we show that localized states of a disordered optical fibre are single mode: the transmission channels possess a high degree of resilience to perturbation and invariance with respect to the launch conditions. Our experimental approach allows identification…

Genetics and Molecular Biology (all)Transmission channelAnderson localizationOptical fiberScienceGeneral Physics and AstronomyPerturbation (astronomy)02 engineering and technology01 natural sciencesCondensed Matter::Disordered Systems and Neural NetworksBiochemistryGeneral Biochemistry Genetics and Molecular BiologyArticlelaw.invention010309 opticsPhysics and Astronomy (all)law0103 physical sciencesPhysicsMultidisciplinaryCondensed matter physicsQChemistry (all)Single-mode optical fiberGeneral Chemistry021001 nanoscience & nanotechnologyWavelengthTransverse planeHomogeneousChemistry (all); Biochemistry Genetics and Molecular Biology (all); Physics and Astronomy (all)0210 nano-technologyNature communications
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The cGMP-gated channel of the rod photoreceptor — a new type of channel structure?

1990

Recents findings from Numa's laboratory reveal that there might exist a wider variety in channel protein structure than originally anticipated. Recently, the cloning has been reported of the first cGMP-gated ion channel, the vertebrate rod photoreceptor which is activated by cGMP acting from the inside of the rod outer segment membrane

Geneticsgenetic structuresProtein ConformationChemistryBiochemistryIon ChannelsTransmembrane proteinCyclic gmpRod PhotoreceptorsProtein structureBiophysicsAnimalsPhotoreceptor Cellssense organsCyclic GMPMolecular BiologyIon channelCommunication channelTrends in Biochemical Sciences
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The effect of body shape and gender on wireless Body Area Network on-body channels

2010

Technological advancements have made possible the emergence of Body Area Networks (BANs). There are numerous on-body channel characterizations in the literature performed on a phantom or a single human subject. In this paper, using multiple subjects, we consider the effect of body shape and gender on the on-body channel. A characterization of a narrowband on-body to on-body channel among different subjects is presented. The paper investigates the relationship between the propagation and the subject's physical characteristics. The investigation is performed at 2360 MHz; the new medical band undergoing FCC approval. Our results show that the path loss in women is less than that in men and the…

GeographyNarrowbandSettore ING-INF/03 - TelecomunicazioniStatisticsBody area networkElectronic engineeringPath lossFadingAntenna measurements Antennas and propagation Body area networks Channel models Fading Shape Wireless sensor networks Body Area Networks Body shape Channel characterization Channel propagation IEEE802.15.6. Wireless Sensor NetworksWireless sensor networkImaging phantomRice distributionCommunication channel
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Use of geomorphological units to improve drainage network extraction from a DEM

1999

Abstract Drainage networks are one of the main elements characterizing basins, and network topology and geometry form the basis of many hydrological and geomorphological models ( eg Geomorphological Unitary Hydrograph). The identification and manual delineation of channel networks from maps or aerial photographs requires much time and effort. In the last two decades, algorithms and procedures for automated extraction of drainage networks from digital elevation data have been developed and implemented in many specialized software applications. Nevertheless, automatically delineated channel networks do not always show close agreement with manually delineated networks. This paper describes a c…

Global and Planetary Changegeography.geographical_feature_categorybusiness.industryDrainage basinHydrographManagement Monitoring Policy and LawNetwork topologyGeographySoftwareExtraction (military)Computers in Earth SciencesDrainageDigital elevation modelbusinessCartographyEarth-Surface ProcessesCommunication channelInternational Journal of Applied Earth Observation and Geoinformation
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