Search results for "channel"

showing 10 items of 1643 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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Using the r package spatstat to assess inhibitory effects of microregional hypoxia on the infiltration of cancers of the head and neck region by cyto…

2021

Simple Summary Progress in the field of in situ proteomics allows for the simultaneous detection of multiple biomarkers within one cancer tissue specimen. As a result, biological hypotheses previously only assessable ex vivo can now be studied in human cancer tissue. However, methods for objective analysis have so far been lacking behind. In this study, we established a free, objective, and entirely open-source-based method for the analysis of multiplexed immunofluorescence specimens. This will gain further importance with the availability of more advanced multiplexing methods in the future. Abstract (1) Background: The immune system has physiological antitumor activity, which is partially …

0301 basic medicineCancer ResearchOpen-sourcespatial analysisCellBiologyArticle03 medical and health sciences0302 clinical medicineImmune systemmedicineCytotoxic T cellCancer immune evasionHead and neck cancerHypoxiacancer immune evasionRC254-282open-sourceTumor hypoxiaMultichannel im-munofluorescencehypoxiaHead and neck cancerRSpatial analysisNeoplasms. Tumors. Oncology. Including cancer and carcinogensHypoxia (medical)medicine.diseaseCTL*030104 developmental biologymedicine.anatomical_structureOncologymultichannel immunofluorescence030220 oncology & carcinogenesisCancer researchhead and neck cancermedicine.symptomInfiltration (medical)
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Crude oil exposures reveal roles for intracellular calcium cycling in haddock craniofacial and cardiac development.

2016

AbstractRecent studies have shown that crude oil exposure affects cardiac development in fish by disrupting excitation-contraction (EC) coupling. We previously found that eggs of Atlantic haddock (Melanogrammus aeglefinus) bind dispersed oil droplets, potentially leading to more profound toxic effects from uptake of polycyclic aromatic hydrocarbons (PAHs). Using lower concentrations of dispersed crude oil (0.7–7 μg/L ∑PAH), here we exposed a broader range of developmental stages over both short and prolonged durations. We quantified effects on cardiac function and morphogenesis, characterized novel craniofacial defects, and examined the expression of genes encoding potential targets underly…

0301 basic medicineCardiac function curveFish ProteinsVDP::Mathematics and natural scienses: 400::Zoology and botany: 480::Marine biology: 497:Matematikk og naturvitenskap: 400::Kjemi: 440::Miljøkjemi naturmiljøkjemi: 446 [VDP]MorphogenesisIntracellular Space010501 environmental sciencesBiology:Mathematics and natural scienses: 400::Zoology and botany: 480::Marine biology: 497 [VDP]01 natural sciencesCalcium in biologyIon ChannelsArticleMyoblasts03 medical and health sciencesMorphogenesisVDP::Mathematics and natural scienses: 400::Chemistry: 440::Environmental chemistry natural environmental chemistry: 446AnimalsPetroleum PollutionCraniofacialPolycyclic Aromatic HydrocarbonsIon channel:Mathematics and natural scienses: 400::Chemistry: 440::Environmental chemistry natural environmental chemistry: 446 [VDP]Cells Cultured0105 earth and related environmental sciences:Matematikk og naturvitenskap: 400::Zoologiske og botaniske fag: 480::Marinbiologi: 497 [VDP]Calcium metabolismRegulation of gene expressionLife Cycle StagesMultidisciplinarySkullFishesGene Expression Regulation DevelopmentalHeartAnatomyEnvironmental ExposureCell biology030104 developmental biologyPetroleumVDP::Matematikk og naturvitenskap: 400::Zoologiske og botaniske fag: 480::Marinbiologi: 497VDP::Matematikk og naturvitenskap: 400::Kjemi: 440::Miljøkjemi naturmiljøkjemi: 446CalciumIntracellularScientific reports
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Bioelectrical Signals and Ion Channels in the Modeling of Multicellular Patterns and Cancer Biophysics

2016

AbstractBioelectrical signals and ion channels are central to spatial patterns in cell ensembles, a problem of fundamental interest in positional information and cancer processes. We propose a model for electrically connected cells based on simple biological concepts: i) the membrane potential of a single cell characterizes its electrical state; ii) the long-range electrical coupling of the multicellular ensemble is realized by a network of gap junction channels between neighboring cells; and iii) the spatial distribution of an external biochemical agent can modify the conductances of the ion channels in a cell membrane and the multicellular electrical state. We focus on electrical effects …

0301 basic medicineCell signalingComputer scienceCèl·lulesQuantitative Biology::Tissues and OrgansCellElectrophysiological PhenomenaCell CommunicationModels BiologicalArticleBiophysical PhenomenaIon ChannelsMembrane PotentialsQuantitative Biology::Cell BehaviorCell membraneion transport03 medical and health sciences0302 clinical medicineNeoplasmsmedicineHumansbiological physicsIon channelIon transporterMembrane potentialMultidisciplinaryBiophysical PhenomenaGap junctionGap JunctionsBiofísicaElectrophysiological PhenomenaMulticellular organism030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisBiophysicsScientific Reports
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Food Sensation Modulates Locomotion by Dopamine and Neuropeptide Signaling in a Distributed Neuronal Network

2018

Finding food and remaining at a food source are crucial survival strategies. We show how neural circuits and signaling molecules regulate these food-related behaviors in Caenorhabditis elegans. In the absence of food, AVK interneurons release FLP-1 neuropeptides that inhibit motorneurons to regulate body posture and velocity, thereby promoting dispersal. Conversely, AVK photoinhibition promoted dwelling behavior. We identified FLP-1 receptors required for these effects in distinct motoneurons. The DVA interneuron antagonizes signaling from AVK by releasing cholecystokinin-like neuropeptides that potentiate cholinergic neurons, in response to dopaminergic neurons that sense food. Dopamine al…

0301 basic medicineCell signalingSensory Receptor CellsInterneuronDopamineSensationNeuropeptideOptogeneticsBiologyReceptors DopamineAnimals Genetically Modified03 medical and health sciencesChannelrhodopsinsDopamineNeural PathwaysBiological neural networkmedicineAnimalsCaenorhabditis elegansCaenorhabditis elegans ProteinsGeneral NeuroscienceNeuropeptidesdigestive oral and skin physiologyDopaminergicOptogenetics030104 developmental biologymedicine.anatomical_structureFoodDopamine receptorCalciumNeuroscienceLocomotionmedicine.drugNeuron
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Targeting Voltage-Dependent Calcium Channels with Pregabalin Exerts a Direct Neuroprotective Effect in an Animal Model of Multiple Sclerosis

2018

Background/aims Multiple sclerosis (MS) is a prototypical autoimmune central nervous system (CNS) disease. Particularly progressive forms of MS (PMS) show significant neuroaxonal damage as consequence of demyelination and neuronal hyperexcitation. Immuno-modulatory treatment strategies are beneficial in relapsing MS (RMS), but mostly fail in PMS. Pregabalin (Lyrica®) is prescribed to MS patients to treat neuropathic pain. Mechanistically, it targets voltage-dependent Ca2+ channels and reduces harmful neuronal hyperexcitation in mouse epilepsy models. Studies suggest that GABA analogues like pregabalin exert neuroprotective effects in animal models of ischemia and trauma. Methods We tested t…

0301 basic medicineCentral nervous systemPregabalinPregabalinPharmacologyNeuroprotectionlcsh:RC346-429Multiple sclerosis03 medical and health sciencesCellular and Molecular NeuroscienceDevelopmental Neurosciencemedicinelcsh:Neurology. Diseases of the nervous systemExperimental autoimmune encephalomyelitisMicrogliaVoltage-dependent calcium channelbusiness.industryMultiple sclerosislcsh:QP351-495Experimental autoimmune encephalomyelitismedicine.diseaseNeuroprotectionlcsh:Neurophysiology and neuropsychology030104 developmental biologymedicine.anatomical_structureNeurologyNeuropathic painbusinessmedicine.drugNeurosignals
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Acid sphingomyelinase – a regulator of canonical transient receptor potential channel 6 (TRPC6) activity

2019

Recent investigations propose the acid sphingomyelinase (ASM)/ceramide system as a novel target for antidepressant action. ASM catalyzes the breakdown of the abundant membrane lipid sphingomyelin to the lipid messenger ceramide. This ASM‐induced lipid modification induces a local shift in membrane properties, which influences receptor clustering and downstream signaling. Canonical transient receptor potential channels 6 (TRPC6) are non‐selective cation channels located in the cell membrane that play an important role in dendritic growth, synaptic plasticity and cognition in the brain. They can be activated by hyperforin, an ingredient of the herbal remedy St. John’s wort for treatment of de…

0301 basic medicineCeramideMedizinCeramidesPC12 CellsBiochemistryFIASMATRPC603 medical and health sciencesCellular and Molecular NeuroscienceTransient receptor potential channelchemistry.chemical_compound0302 clinical medicineddc:570medicineAnimalsInstitut für Biochemie und BiologieIon channelTRPC Cation ChannelsNeuronsRatsCell biologySphingomyelin Phosphodiesterase030104 developmental biologychemistryLipid modificationAcid sphingomyelinaseSphingomyelin030217 neurology & neurosurgerymedicine.drugJournal of Neurochemistry
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Structural Basis of TRPV4 N Terminus Interaction with Syndapin/PACSIN1-3 and PIP2

2018

Summary Transient receptor potential (TRP) channels are polymodally regulated ion channels. TRPV4 (vanilloid 4) is sensitized by PIP2 and desensitized by Syndapin3/PACSIN3, which bind to the structurally uncharacterized TRPV4 N terminus. We determined the nuclear magnetic resonance structure of the Syndapin3/PACSIN3 SH3 domain in complex with the TRPV4 N-terminal proline-rich region (PRR), which binds as a class I polyproline II (PPII) helix. This PPII conformation is broken by a conserved proline in a cis conformation. Beyond the PPII, we find that the proximal TRPV4 N terminus is unstructured, a feature conserved across species thus explaining the difficulties in resolving it in previous …

0301 basic medicineChemistryAffinitiesSH3 domainN-terminus03 medical and health sciencesTransient receptor potential channel030104 developmental biologyStructural biologyStructural BiologyHelixBiophysicslipids (amino acids peptides and proteins)Molecular BiologyIon channelPolyproline helixStructure
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An alloherpesvirus infection of European perch Perca fluviatilis in Finland

2018

The order Herpesvirales includes viruses that infect aquatic and terrestrial vertebrates and several aquatic invertebrates (i.e. mollusks), and share the commonality of possessing a double-stranded DNA core surrounded by an icosahedral capsid. Herpesviruses of the family Alloherpesviridae that infect fish and amphibians, including channel catfish virus and koi herpes - virus, negatively impact aquaculture. Here, we describe a novel herpesvirus infection of wild European perch from lakes in Finland. Infected fish exhibited white nodules on the skin and fins, typically in the spring when prevalence reached nearly 40% in one of the sampled lakes. Transmission electron microscopic examination o…

0301 basic medicineDNA polymerasevirusesZoologyalloherpesvirusAquatic ScienceEuropean perchinfektiotVirusChannel catfish virusFish Diseases03 medical and health sciencesHerpesviralesAnimalsahvenherpesviruksetGeneFinlandEcology Evolution Behavior and SystematicsPerchbiologyPhylogenetic treeta1183DNA VirusesHerpesvirusbiology.organism_classificationkalatauditDNA Virus Infections030104 developmental biologywhite nodulesPerchesAlloherpesviridaebiology.protein
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Intra-neuronal Competition for Synaptic Partners Conserves the Amount of Dendritic Building Material

2017

Brain development requires correct targeting of multiple thousand synaptic terminals onto staggeringly complex dendritic arbors. The mechanisms by which input synapse numbers are matched to dendrite size, and by which synaptic inputs from different transmitter systems are correctly partitioned onto a postsynaptic arbor, are incompletely understood. By combining quantitative neuroanatomy with targeted genetic manipulation of synaptic input to an identified Drosophila neuron, we show that synaptic inputs of two different transmitter classes locally direct dendrite growth in a competitive manner. During development, the relative amounts of GABAergic and cholinergic synaptic drive shift dendrit…

0301 basic medicineDendritic spinePresynaptic TerminalsBiologyReceptors NicotinicArticleSynapse03 medical and health sciencesDendrite (crystal)Calcium Channels T-Type0302 clinical medicinePostsynaptic potentialSynaptic augmentationmedicineAnimalsDrosophila ProteinsCalcium Signalinggamma-Aminobutyric AcidNeuronsNeuronal PlasticityGeneral NeuroscienceDendritesReceptors GABA-AAcetylcholine030104 developmental biologySynaptic fatiguemedicine.anatomical_structurenervous systemSynaptic plasticitySynapsesDrosophilaNeuronNeuroscience030217 neurology & neurosurgery
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