Search results for " L-Type"

showing 10 items of 11 documents

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.

2016

Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms. Despite the absence of facial dysmorphism and the presence of normal psychomotor development, a diagnosis of Timothy syndrome was made given the association of syndactyly and the ECG features.…

0301 basic medicineCalcium Channels L-TypeLong QT syndromeDNA Mutational AnalysisTimothy syndrome030204 cardiovascular system & hematologyBioinformaticsDNA sequencing03 medical and health sciencessymbols.namesakeElectrocardiography0302 clinical medicineGeneticsmedicineMissense mutationHumansSyndactylyAutistic DisorderChildCodonGenetics (clinical)AllelesGenetic Association StudiesSanger sequencingbiologyMosaicismKCNE2High-Throughput Nucleotide Sequencingmedicine.diseaseLong QT Syndrome030104 developmental biologyPhenotypeAmino Acid SubstitutionMutation (genetic algorithm)Mutationsymbolsbiology.proteinFemaleSyndactylyAmerican journal of medical genetics. Part A
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Modulation of adrenergic responses of human vas deferens by K+ channel inhibitors.

2010

Objectives The present study was designed to evaluate the role of K + channels in the adrenergic responses of human vas deferens as well as the intervention of dihydropyridine-sensitive Ca 2+ channels on modulation of adrenergic responses by K + channel inhibitors. Methods Ring segments of the epididymal part of the vas deferens were taken from 32 elective vasectomies and mounted in organ baths for isometric recording of tension. We then studied the effects of K + channel blockers on neurogenic and norepinephrine-induced contractile responses. Results Addition of tetraethylammonium (TEA, 10 −3 M), a nonspecific K + channel blocker, or charybdotoxin (10 −7 M), a nonselective inhibitor of lar…

AdultMalemedicine.medical_specialtyPotassium ChannelsCharybdotoxinCalcium Channels L-TypeCharybdotoxinNifedipineUrologyAdrenergicApaminGlibenclamidechemistry.chemical_compoundNorepinephrineVas DeferensNifedipineInternal medicineReceptors Adrenergic alpha-1GlyburidePotassium Channel BlockersMedicineHumansChannel blockerTetraethylammoniumIon Transportbusiness.industryVas deferensTetraethylammoniumMuscle SmoothElectric StimulationEndocrinologymedicine.anatomical_structurechemistryApaminPotassiumCalciumbusinessPeptidesmedicine.drugMuscle ContractionUrology
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Opposite vascular activity of (R)-apomorphine and its oxidised derivatives. Endothelium-dependent vasoconstriction induced by the auto-oxidation meta…

2003

We have synthetised a series of oxidised apomorphine derivatives (orto and para quinones 2-5), in order to analyse their vascular activity. We have performed radioligand binding assays on rat cortical membranes and functional studies on rat aortic rings. Instead the relaxant activity exhibited by (R)-apomorphine, o-quinones 2, 4, show contractile activity dependent on endothelium in rat aortic rings. Compound 2, the main metabolite of (R)-apomorphine auto-oxidation, was the product which showed enhanced contractile activity by a complex mechanism related to activation of Ca(2+) channels through release and/or inhibition of endothelial factors. Moreover, this compound disrupts the endothelia…

ApomorphineCalcium Channels L-TypeEndotheliumMetaboliteRadioligand Assaychemistry.chemical_compoundDrug DiscoverymedicineAnimalsVasoconstrictor AgentsEnzyme InhibitorsRats WistarAortaCerebral CortexPharmacologyDose-Response Relationship DrugbiologyOrganic ChemistryQuinonesStereoisomerismGeneral MedicineReceptors Adrenergic alphaReceptors GABA-AAcetylcholineIn vitroRatsApomorphineNitric oxide synthasemedicine.anatomical_structureBiochemistrychemistryVasoconstrictionBiophysicsbiology.proteinFemaleEndothelium VascularNitric Oxide Synthasemedicine.symptomOxidation-ReductionVasoconstrictionAcetylcholineBlood vesselmedicine.drugEuropean Journal of Medicinal Chemistry
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Postsynaptic Secretion of BDNF and NT-3 from Hippocampal Neurons Depends on Calcium–Calmodulin Kinase II Signaling and Proceeds via Delayed Fusion Po…

2007

The mammalian neurotrophins (NTs) NGF, BDNF, NT-3, and NT-4 constitute a family of secreted neuronal growth factors. In addition, NTs are implicated in several forms of activity-dependent synaptic plasticity. Although synaptic secretion of NTs has been described, the intracellular signaling cascades that regulate synaptic secretion of NTs are far from being understood. Analysis of NT secretion at the subcellular level is thus required to resolve the role of presynaptic and postsynaptic NT secretion for synaptic plasticity. Here, we transfected cultures of dissociated rat hippocampal neurons with green fluorescent protein-tagged versions of BDNF and NT-3, respectively, and identified NT vesi…

Calcium Channels L-TypeBiologyNeurotransmissionInhibitory postsynaptic potentialHippocampusReceptors N-Methyl-D-AspartateSynaptic TransmissionExocytosisNeurotrophin 3Postsynaptic potentialCa2+/calmodulin-dependent protein kinaseAnimalsCalcium SignalingNeuronsBrain-Derived Neurotrophic FactorGeneral NeuroscienceRyanodine Receptor Calcium Release ChannelLong-term potentiationArticlesCyclic AMP-Dependent Protein KinasesRatsCell biologynervous systemBiochemistryTrk receptorCalcium-Calmodulin-Dependent Protein KinasesSynapsesSynaptic plasticityThapsigarginCalcium-Calmodulin-Dependent Protein Kinase Type 2Postsynaptic densityThe Journal of Neuroscience
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Adaptive Mechanisms of Somatostatin-Positive Interneurons after Traumatic Brain Injury through a Switch of α Subunits in L-Type Voltage-Gated Calcium…

2021

Abstract Unilateral traumatic brain injury (TBI) causes cortical dysfunctions spreading to the primarily undamaged hemisphere. This phenomenon, called transhemispheric diaschisis, is mediated by an imbalance of glutamatergic versus GABAergic neurotransmission. This study investigated the role of GABAergic, somatostatin-positive (SST) interneurons in the contralateral hemisphere 72 h after unilateral TBI. The brain injury was induced to the primary motor/somatosensory cortex of glutamate decarboxylase 67–green fluorescent protein (GAD67-GFP) knock-in mice at postnatal days 19–21 under anesthesia in vivo. Single GFP+ interneurons of the undamaged, contralateral cortex were isolated by fluores…

Cerebral CortexCalcium Channels L-TypeVoltage-dependent calcium channelChemistryCognitive NeuroscienceGlutamate decarboxylaseSomatosensory systemCortex (botany)MiceCellular and Molecular NeuroscienceGlutamatergicElectrophysiologyInterneuronsBrain Injuries TraumaticAnimalsGABAergicSomatostatinNeuroscienceDiaschisisCerebral Cortex
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Association of Whirlin with Cav1.3 (α1D) Channels in Photoreceptors, Defining a Novel Member of the Usher Protein Network

2010

Contains fulltext : 88383.pdf (Publisher’s version ) (Closed access) PURPOSE: Usher syndrome is the most common form of hereditary deaf-blindness. It is both clinically and genetically heterogeneous. The USH2D protein whirlin interacts via its PDZ domains with other Usher-associated proteins containing a C-terminal type I PDZ-binding motif. These proteins co-localize with whirlin at the region of the connecting cilium and at the synapse of photoreceptor cells. This study was undertaken to identify novel, Usher syndrome-associated, interacting partners of whirlin and thereby obtain more insights into the function of whirlin. METHODS: The database of ciliary proteins was searched for proteins…

Genetics and epigenetic pathways of disease [NCMLS 6]Calcium Channels L-TypeUsher syndromeProtein subunitImmunoelectron microscopyBlotting WesternPDZ domainRetinaCav1.3MiceTwo-Hybrid System TechniquesChlorocebus aethiopsmedicineAnimalsInner earRNA MessengerRats WistarDatabases ProteinMicroscopy ImmunoelectronPhotoreceptor Connecting CiliumIn Situ HybridizationRenal disorder [IGMD 9]RetinaVoltage-dependent calcium channelbiologyComputational BiologyMembrane Proteinsmedicine.diseaseeye diseasesRatsCell biologyMice Inbred C57BLmedicine.anatomical_structureCOS Cellsbiology.proteinsense organsFunctional Neurogenomics [DCN 2]Photoreceptor Cells VertebrateInvestigative Opthalmology & Visual Science
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Effects of Presynaptic Mutations on a Postsynaptic Cacna1s Calcium Channel Colocalized with mGluR6 at Mouse Photoreceptor Ribbon Synapses

2008

Purpose Photoreceptor ribbon synapses translate light-dependent changes of membrane potential into graded transmitter release via L-type voltage-dependent calcium channel (VDCC) activity. Functional abnormalities (e.g., a reduced electroretinogram b-wave), arising from mutations of presynaptic proteins, such as Bassoon and the VDCCalpha1 subunit Cacna1f, have been shown to altered transmitter release. L-type VDCCalpha1 subtype expression in wild-type and mutant mice was examined, to investigate the underlying pathologic mechanism. Methods Two antisera against Cacna1f, and a Cacna1f mouse mutant (Cacna1fDeltaEx14-17) were generated. Immunocytochemistry for L-type VDCCalpha1 subunits and addi…

MaleCalcium Channels L-TypeBlotting WesternPresynaptic TerminalsRibbon synapseBiologyReceptors Metabotropic GlutamateSynaptic TransmissionEpitopesMicePostsynaptic potentialAnimalsCalcium SignalingActive zoneFluorescent Antibody Technique IndirectMicroscopy ImmunoelectronSequence DeletionMembrane potentialSheepVoltage-dependent calcium channelReverse Transcriptase Polymerase Chain ReactionCalcium channelMetabotropic glutamate receptor 6ColocalizationAnatomyBlotting NorthernMice Mutant StrainsPeptide FragmentsCell biologyMice Inbred C57BLFemaleCalcium ChannelsRabbitssense organsPhotoreceptor Cells VertebrateInvestigative Opthalmology & Visual Science
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Effects of menthol on circular smooth muscle of human colon: Analysis of the mechanism of action.

2014

Abstract Menthol is the major constituent of peppermint oil, an herbal preparation commonly used to treat nausea, spasms during colonoscopy and irritable bowel disease. The mechanism responsible for its spasmolytic action remains unclear. The aims of this study were to investigate the effects induced by menthol on the human distal colon mechanical activity in vitro and to analyze the mechanism of action. The spontaneous or evoked-contractions of the circular smooth muscle were recorded using vertical organ bath. Menthol (0.1 mM–30 mM) reduced, in a concentration-dependent manner, the amplitude of the spontaneous contractions without affecting the frequency and the resting basal tone. The in…

MaleCalcium Channels L-TypeNifedipineColonIn Vitro TechniquesPharmacologySettore BIO/09 - Fisiologiachemistry.chemical_compoundNifedipinemedicineTRPM8HumansChannel blockerAgedAged 80 and overPharmacologyTetraethylammoniumVoltage-dependent calcium channelChemistryParasympatholyticsMuscle SmoothMiddle AgedCalcium Channel BlockersElectric StimulationMentholMechanism of actionAnesthesiaCarbacholFemalemedicine.symptomMentholSoluble guanylyl cyclasecolon contractility calcium channel mentholMuscle Contractionmedicine.drug
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Postnatal increases in axonal conduction velocity of an identified Drosophila interneuron require fast sodium, L-type calcium and shaker potassium ch…

2019

Abstract During early postnatal life, speed up of signal propagation through many central and peripheral neurons has been associated with an increase in axon diameter or/and myelination. Especially in unmyelinated axons postnatal adjustments of axonal membrane conductances is potentially a third mechanism but solid evidence is lacking. Here, we show that axonal action potential (AP) conduction velocity in the Drosophila giant fiber (GF) interneuron, which is required for fast long-distance signal conduction through the escape circuit, is increased by 80% during the first day of adult life. Genetic manipulations indicate that this postnatal increase in AP conduction velocity in the unmyelina…

MaleConfirmationaction potential propagationCalcium Channels L-Typepostnatal maturation2Neural ConductionAction PotentialsVoltage-Gated Sodium ChannelsDevelopmentgiant fiberAxonsvoltage-gated ion channels570 Life sciencesnervous systemInterneurons2.6LarvaShaker Superfamily of Potassium ChannelsAnimalsescapeinsectDrosophilaFemale570 Biowissenschaften
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Differences in the nitric oxide/soluble guanylyl cyclase signalling pathway in the myocardium of neonatal and adult rats

2000

Abstract The effects of a nitric oxide-donor, S -nitroso- N -acetylpenicillamine, and a direct activator of soluble guanylyl cyclase, 3-(5′-hydroxymethyl-2′-furyl)-1-benzyl indazole (YC-1), on force of contraction ( F c ) and L-type Ca 2+ currents ( I Ca(L) ) were investigated in myocardial preparations from neonatal and adult rats. Since hearts from adult and neonatal animals contained 160 and 47 mg/100 g wet weight myoglobin, respectively, its possible interaction with both drugs was also investigated. Both S -nitroso- N -acetylpenicillamine (100 μM) and YC-1 (30 μM) were ineffective in myocardial preparations from adult rats but reduced the magnitude of I Ca(L) and F c in preparations fr…

Maleinorganic chemicalsmedicine.medical_specialtyContraction (grammar)Calcium Channels L-Typechemistry.chemical_elementCalciumNitric OxideNitric oxideRats Sprague-Dawleychemistry.chemical_compoundInternal medicinemedicineAnimalsCyclic GMPPharmacologychemistry.chemical_classificationDose-Response Relationship DrugMyoglobinMyocardiumPenicillamineAge FactorsMyocardial ContractionIn vitroRatsEndocrinologyEnzymeAnimals NewbornchemistryMyoglobinGuanylate Cyclasemedicine.symptomSoluble guanylyl cyclaseSignal TransductionMuscle contractionEuropean Journal of Pharmacology
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