Search results for "4a"

showing 10 items of 178 documents

Disruption of Slc4a10 augments neuronal excitability and modulates synaptic short-term plasticity

2015

Slc4a10 is a Na(+)-coupled Cl(-)-HCO3 (-) exchanger, which is expressed in principal and inhibitory neurons as well as in choroid plexus epithelial cells of the brain. Slc4a10 knockout (KO) mice have collapsed brain ventricles and display an increased seizure threshold, while heterozygous deletions in man have been associated with idiopathic epilepsy and other neurological symptoms. To further characterize the role of Slc4a10 for network excitability, we compared input-output relations as well as short and long term changes of evoked field potentials in Slc4a10 KO and wildtype (WT) mice. While responses of CA1 pyramidal neurons to stimulation of Schaffer collaterals were increased in Slc4a1…

Neocortexsynaptic plasticitySeizure thresholdGABAergic inhibitionNeural facilitationHippocampusLong-term potentiationBiologyInhibitory postsynaptic potentiallcsh:RC321-571field potentialCellular and Molecular Neurosciencemedicine.anatomical_structureKnockout mouseSynaptic plasticitymedicineLTPNeuroscienceSLC4A10lcsh:Neurosciences. Biological psychiatry. NeuropsychiatryOriginal ResearchNeuroscienceFrontiers in Cellular Neuroscience
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Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

2007

Abstract Mutations in the mitochondrial protein GDAP1 are the cause of Charcot-Marie-Tooth type 4A disease (CMT4A), a severe form of peripheral neuropathy associated with either demyelinating, axonal or intermediate pheno-types. GDAP1 is located in the outer mitochondrial membrane and it seems that may be related with the mitochondrial network dynamics. We are interested to define cell expression in the nervous system and the effect of mutations in mitochondrial morphology and pathogenesis of the disease. We investigated GDAP1 expression in the nervous system and dorsal root ganglia (DRG) neuron cultures. GDAP1 is expressed in motor and sensory neurons of the spinal cord and other large neu…

Nervous systemCMT4A mutations and pathogenesisPathologymedicine.medical_specialtyperipheral neuropathyCharcot-Marie-Tooth type 4A diseaseMutation MissenseGene ExpressionImages in Cellular / Molecular MedicineNerve Tissue ProteinsGDAP1MitochondrionBiologymedicine.disease_causeNervous SystemPathogenesisMicePurkinje CellsCharcot-Marie-Tooth DiseaseInterneuronsGanglia SpinalChlorocebus aethiopsmedicineAnimalsHumansNeurons AfferentCells CulturedMotor NeuronsMutationfusion and fission pathwayPyramidal CellsCell Biologymedicine.diseaseSpinal cordImmunohistochemistrymitochondrial dynamicsCell biologyOlfactory bulbRatsmedicine.anatomical_structurePeripheral neuropathynervous systemAnimals NewbornSpinal CordCOS CellsMolecular MedicineNeuronHeLa CellsJournal of Cellular and Molecular Medicine
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On two topological cardinal invariants of an order-theoretic flavour

2012

Noetherian type and Noetherian $\pi$-type are two cardinal functions which were introduced by Peregudov in 1997, capturing some properties studied earlier by the Russian School. Their behavior has been shown to be akin to that of the \emph{cellularity}, that is the supremum of the sizes of pairwise disjoint non-empty open sets in a topological space. Building on that analogy, we study the Noetherian $\pi$-type of $\kappa$-Suslin Lines, and we are able to determine it for every $\kappa$ up to the first singular cardinal. We then prove a consequence of Chang's Conjecture for $\aleph_\omega$ regarding the Noetherian type of countably supported box products which generalizes a result of Lajos S…

NoetherianHigher Suslin LinePixley–Roy hyperspacePrimary: 03E04 54A25 Secondary: 03E35 54D70LogicOpen setMathematics::General TopologyDisjoint setsTopological spaceType (model theory)TopologyChangʼs ConjectureChangʼs Conjecture for ℵωFOS: MathematicsBox productMathematicsMathematics - General TopologyConjectureMathematics::Commutative AlgebraGeneral Topology (math.GN)PCF theoryNoetherian typeMathematics - LogicInfimum and supremumMathematics::LogicOIF spaceLogic (math.LO)
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Existence and uniqueness of nontrivial collocation solutions of implicitly linear homogeneous Volterra integral equations

2011

We analyze collocation methods for nonlinear homogeneous Volterra-Hammerstein integral equations with non-Lipschitz nonlinearity. We present different kinds of existence and uniqueness of nontrivial collocation solutions and we give conditions for such existence and uniqueness in some cases. Finally we illustrate these methods with an example of a collocation problem, and we give some examples of collocation problems that do not fit in the cases studied previously.

Non-Lipschitz nonlinearityVolterra integral equationMathematics::Numerical Analysissymbols.namesakeMathematics - Analysis of PDEs45D05 45G10 65R20 34A12Computer Science::Computational Engineering Finance and ScienceCollocation methodFOS: MathematicsOrthogonal collocationNonlinear integral equationsMathematics - Numerical AnalysisUniquenessMathematicsPhysics::Computational PhysicsCollocation methodsCollocationApplied MathematicsMathematical analysisComputer Science::Computation and Language (Computational Linguistics and Natural Language and Speech Processing)Numerical Analysis (math.NA)Nontrivial solutionsIntegral equationComputer Science::Numerical AnalysisNonlinear systemComputational MathematicssymbolsLinear equationAnalysis of PDEs (math.AP)Journal of Computational and Applied Mathematics
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Molecular and immunohistochemical analysis of the prognostic value of cell-cycle regulators in urothelial neoplasms of the bladder.

2006

Abstract Objective To evaluate the prognostic and predictive value of molecular and immunohistochemical markers related to cell-cycle control in terms of recurrence, progression, and survival in urothelial neoplasms of the bladder (UNB). Patients and Methods Clinical and pathological findings of 84 patients with UNB were assessed. Homozygous deletion (HD) and promoter methylation of p14 ARF , p15 INK4B , p16 INK4A , loss of heterozygosity of the locus 9p21, p53 mutations, and immunohistochemical expression of p53, p16, p14, p21, p27, pRb, Ki67, MDM2, and cyclin D1 proteins were evaluated in relation to overall survival (OS), recurrence-free survival (RFS), and progression-free survival (PFS…

OncologyMalemedicine.medical_specialtyUrologyCell Cycle ProteinsLoss of heterozygosityCyclin D1p14arfPredictive Value of TestsInternal medicineTumor Suppressor Protein p14ARFmedicineBiomarkers TumorHumansCyclin-Dependent Kinase Inhibitor p16Cyclin-Dependent Kinase Inhibitor p15Univariate analysisBladder cancerbusiness.industryCarcinomaRetinoblastomaAnatomical pathologyProto-Oncogene Proteins c-mdm2Cell cyclemedicine.diseasePrognosisImmunohistochemistrySurvival AnalysisKi-67 AntigenMolecular Diagnostic TechniquesUrinary Bladder NeoplasmsCancer researchDisease ProgressionImmunohistochemistryFemaleNeoplasm Recurrence LocalTumor Suppressor Protein p53UrotheliumbusinessCyclin-Dependent Kinase Inhibitor p27European urology
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Significance of P16INK4A hypermethylation gene in primary head/neck and colorectal tumors: it is a specific tissue event? Results of a 3-year GOIM (G…

2006

Background Methylation of the p16 promoter is one of the most frequent mechanisms of gene inactivation; its incidence is extremely variable according to the type of tumor involved. Our purpose was to analyze the hypermethylation of the p16 promoter in laryngeal squamous cell carcinomas (LSCC), salivary gland (SG) tumors and in colorectal cancer (CRC), to detect any possible association with the clinicopathological features and to determine the prognostic significance of the p16 gene in the tumors analyzed. Patients and methods The hypermethylation of the p16 promoter was prospectively analyzed, by MSP, in a consecutive series of 64 locally advanced LSCC patients, in a consecutive series of …

Oncologymedicine.medical_specialtyColorectal cancerInternal medicinemedicineHumansPromoter Regions GeneticProspective cohort studyNeoplasm StagingUnivariate analysisbusiness.industryGenes p16Incidence (epidemiology)CancerHematologyMethylationDNA Methylationmedicine.diseaseOncologyHead and Neck NeoplasmsSalivary gland cancerDNA methylationCarcinoma Squamous CellColorectal NeoplasmsbusinessP16INK4A head and neck carcinoma
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Covering by discrete and closed discrete sets.

2008

Say that a cardinal number $\kappa$ is \emph{small} relative to the space $X$ if $\kappa <\Delta(X)$, where $\Delta(X)$ is the least cardinality of a non-empty open set in $X$. We prove that no Baire metric space can be covered by a small number of discrete sets, and give some generalizations. We show a ZFC example of a regular Baire $\sigma$-space and a consistent example of a normal Baire Moore space which can be covered by a small number of discrete sets. We finish with some remarks on linearly ordered spaces.

Open setMathematics::General TopologyBaireBaire measure01 natural sciencesComplete metric spaceDiscrete setFOS: MathematicsProperty of Baire0101 mathematicsDispersion characterMoore spaceMathematicsMathematics - General TopologyDiscrete mathematicsMoore space (topology)σ-space010102 general mathematicsGeneral Topology (math.GN)Baire spaceBaire property010101 applied mathematicsMetric spaceMathematics::Logic54A25 54E52Baire category theoremSettore MAT/03 - GeometriaGeometry and TopologyLOTSsigma-space
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Papel de NF-κB Y miRNA-34a en la patogénesis de la osteoartritis y como posible diana de las nuevas terapias biológicas

2015

Introducción: La artrosis es un proceso degenerativo articular que presenta una elevada prevalencia y que es un claro ejemplo de enfermedad de etiología compleja que resulta de la interacción de factores adquiridos con una predisposición hereditaria. NF-κB es un complejo proteico que controla la transcripción del ADN y que está implicado en la respuesta celular frente a diversos estímulos como el estrés, las citoquinas, o antígenos bacterianos o virales. Los microRNAs son pequeños RNAs no codificantes que regulan la expresión génica mediante la inhibición de RNA mensajeros . En la última década se han convertido en una diana de estudio los mecanismos epigenéticos que actúan en los procesos …

OsteoartritiscartílagoUNESCO::CIENCIAS MÉDICASmirna-34a:CIENCIAS MÉDICAS [UNESCO]nfkb
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In human and rat lung membranes [35s]GTPγS binding is a tool for pharmacological characterization of G protein-coupled devucleotide receptors

1999

The P2Y receptor family is activated by extracellular nucleotides such as ATP and UTP. P2Y receptors regulate physiological functions in numerous cell types. In lung, the P2Y2 receptor subtype plays a role in controlling Cl- and fluid transport. Besides ATP or UTP, also diadenosine tetraphosphate (Ap4A), a stable nucleotide, seems to be of physiological importance. In membrane preparations from human and rat lung we applied several diadenosine polyphosphates to investigate whether they act as agonists for G protein-coupled receptors. We assessed this by determining the stimulation of [35S]GTPgammaS binding. Stimulation of [35S]GTPgammaS binding to G proteins has already been successfully ap…

P2Y receptorG proteinGTPgammaSReceptors Cell SurfaceBiologySulfur RadioisotopesGeneral Biochemistry Genetics and Molecular BiologyRadioligand Assaychemistry.chemical_compoundSpecies SpecificityGTP-Binding ProteinsAnimalsHumansGeneral Pharmacology Toxicology and PharmaceuticsReceptorLungG protein-coupled receptorG protein-coupled receptor kinaseMembranesReceptors Purinergic P2General MedicineFluid transportRatschemistryBiochemistryGuanosine 5'-O-(3-Thiotriphosphate)Ap4ALife Sciences
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Common variants conferring risk of schizophrenia

2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…

Pair 6/geneticsGenetics and epigenetic pathways of disease [NCMLS 6]Genome-wide association studyAetiology screening and detection [ONCOL 5]1Q21.1Major Histocompatibility Complex/geneticsMajor Histocompatibility ComplexTranscription Factor 40302 clinical medicineChemicals And Cas Registry NumbersPerception and Action [DCN 1]Copy-number variationPOPULATIONGeneticsPair 18/genetics0303 health scienceseducation.field_of_studyGenomeHuman/geneticsMultidisciplinaryBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsSchizophrenia/*genetics/immunologyGenetic Predisposition to Disease/*genetics3. Good healthDNA-Binding ProteinsNeurogranin/geneticsDISEASESChromosomes Human Pair 6Single Nucleotide/*geneticsFunctional Neurogenomics [DCN 2]Zinc finger protein 804AHumanGenetic MarkersPsychosisGenotypePopulationTranscription Factors/geneticsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideChromosomesPair 11/geneticsArticleChromosomes; Human; Pair 11/genetics; Pair 18/genetics; Pair 6/genetics; DNA-Binding Proteins/genetics; Genetic Markers/genetics; Genetic Predisposition to Disease/*genetics; Genome; Human/genetics; Genome-Wide Association Study; Genotype; Humans; Major Histocompatibility Complex/genetics; Neurogranin/genetics; Polymorphism; Single Nucleotide/*genetics; Schizophrenia/*genetics/immunology; Transcription Factors/geneticsGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesTranslational research [ONCOL 3]medicineHumansSNPGenetic Predisposition to DiseasePolymorphismGENOME-WIDE ASSOCIATIONeducation030304 developmental biologyGenetic associationGenetic Markers/geneticsHereditary cancer and cancer-related syndromes [ONCOL 1]Genome HumanChromosomes Human Pair 11MEMORYmedicine.diseaseGENENEUROGRANINDELETIONSSchizophreniabiology.proteinNeurograninChromosomes Human Pair 18DNA-Binding Proteins/geneticsMENTAL-RETARDATIONSCAN030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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