Search results for "deletion"

showing 3 items of 383 documents

Peripersonal Visuospatial Abilities in Williams Syndrome Analyzed by a Table Radial Arm Maze Task

2020

Williams syndrome (WS) is a genetic deletion syndrome characterized by severe visuospatial deficits affecting spatial exploration and navigation abilities in extra-personal space.To date, little is known about spatial elaboration and reaching abilities in the peripersonal space in individuals with WS. The present study is aimed at evaluating the visuospatial abilities in individuals with WS and comparing their performances with those of mental age-matched typically developing (TD) children by using a highly sensitive ecological version of the Radial Arm Maze (table RAM). We evaluated 15 individuals with WS and 15 TD children in two different table RAM paradigms: the free-choice paradigm, ma…

navigation abilitiesSpatial memory050105 experimental psychologyTask (project management)lcsh:RC321-571ecological behavioral task03 medical and health sciencesBehavioral Neuroscience0302 clinical medicinechildrenmedicine0501 psychology and cognitive sciencesDeletion syndromelcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBiological PsychiatryComputingMilieux_MISCELLANEOUSOriginal ResearchRadial arm mazeWorking memory[SCCO.NEUR]Cognitive science/Neuroscience05 social sciencesspatial explorationCognitionHuman Neurosciencespatial memorymedicine.diseasePsychiatry and Mental healthNeuropsychology and Physiological PsychologyNeurologyTable (database)Williams syndromePsychologychildren ecological behavioral task navigation abilities navigation abilities spatial memory030217 neurology & neurosurgeryCognitive psychology
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Integración de la genómica en la modelización de los tumores neuroblásticos = Integration of genomics in neuroblastic tumors modeling

2015

*Introducción: El neuroblastoma es un tumor maligno embrionario del sistema nervioso simpático con una gran heterogeneidad en la presentación clínica, morfológica y genética y en otras características biológicas. La estratificación de grupos de riesgo pretratamiento se basa en los siguientes factores: edad, estadio, histopatológica del tumor, estado del oncogén MYCN, integridad del brazo cromosómico 11q y ploidía. Por otra parte, los cambios numéricos y estructurales detectados en el perfil genético se han incluido recientemente en la estratificación terapéutica de los pacientes con bajo riesgo a recaer o morir. El amplio espectro clínico de la enfermedad va desde pacientes con neuroblastom…

neuroblastomaSNP arraysFISHMYCN geneintratumoral heterogeneityUNESCO::CIENCIAS MÉDICAS11q deletion:CIENCIAS MÉDICAS [UNESCO]
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In vitro studies on the activation of the hepatitis C virus NS3 proteinase by the NS4A cofactor.

1996

AbstractProteolytic processing of the nonstructural proteins of the hepatitis C virus (HCV) is mediated by two viral proteinases: the NS2-3 proteinase cleaving at the NS2/3 junction and the NS3 serine-type proteinase responsible for processing at the NS3/4A, NS4A/B, NS4B/5A, and NS5A/B sites. Activity of the NS3 proteinase is modulated by NS4A. In the absence of this cofactor processing at the NS3-dependent sites does not occur or, in the case of the NS5A/B junction, is poor but increased when NS4A is present. Although recent studies demonstrated that proteinase activation requires direct interaction between NS3 and NS4A, the mechanism by which NS4A exerts the activation function is not kno…

virusesMolecular Sequence DataHepacivirusBiologyViral Nonstructural ProteinsCell LineEnzyme activatorProteinase 3VirologyCricetinaeMicrosomesAnimalsHumansAmino Acid SequenceBinding siteNS5APeptide sequenceSequence Deletionchemistry.chemical_classificationNS3Binding SitesBase Sequencevirus diseasesIntracellular Membranesbiochemical phenomena metabolism and nutritionMolecular biologyIn vitrodigestive system diseasesAmino acidEnzyme ActivationBiochemistrychemistryDNA ViralPeptidesHeLa CellsVirology
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