Search results for " FRAMEWORK"

showing 10 items of 893 documents

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

2019

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating sc…

0301 basic medicineMale[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyLOCAL TRANSLATIONMedizinmedicine.disease_causeDISEASEchemistry.chemical_compound0302 clinical medicinepolineuropathyCinètica enzimàticaGene Regulatory NetworksPyridoxal phosphateChildPyridoxal KinaseAdenosine triphosphate (ATP)Research ArticlesAged 80 and overMutationGene Regulatory NetworkPLASMAAutosomal recessive axonal polyneuropathyDisease gene identificationPyridoxal kinase3. Good healthSettore MED/26 - NEUROLOGIANeuropaties perifèriquesTreatment OutcomePolyneuropathieNeurologyChild PreschoolPyridoxal PhosphateRELIABILITYVitamin B ComplexFemaleLife Sciences & BiomedicinePolyneuropathyHumanResearch ArticleAdultAdolescentPDXKClinical NeurologyCHARCOT-MARIE-TOOTHCHARCOT-MARIE-TOOTH CMT NEUROPATHY SCORE LOCAL TRANSLATION DISEASE RELIABILITY; MECHANISMS DISCOVERY FRAMEWORK KINASE PLASMAMECHANISMS03 medical and health sciencesPolyneuropathiesAtrophy[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]KINASEmedicineHumansCMT NEUROPATHY SCOREPDXK mutationsPyridoxalDietary SupplementAgedPeripheral neuropathiesScience & Technology[SCCO.NEUR]Cognitive science/NeuroscienceEnzyme kineticsNeurosciencesFRAMEWORKmedicine.diseaseMolecular biology030104 developmental biologychemistryDISCOVERYDietary SupplementsMutationNeurosciences & NeurologyNeurology (clinical)Adenosine triphosphate030217 neurology & neurosurgeryAnnals of Neurology
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Stable radical anions generated from a porous perylenediimide metal-organic framework for boosting near-infrared photothermal conversion

2019

Radical anions of electron-deficient systems are widely used, but are easily reoxidized upon exposure to air. Therefore, the stabilization of radical anions under ambient conditions is of great significance, but still remains a scientific challenge. Herein, perylenediimide is employed to prepare a crystalline metal-organic framework for stabilizing radical anions without extensive chemical modification. The porous, three-dimensional framework of perylenediimide can trap electron donors such as amine vapors and produce radical anions in-situ through photo-induced electron transfer. The radical anions are protected against quenching by shielding effect in air and remain unobstructed in air fo…

0301 basic medicineMultidisciplinaryMaterials scienceScienceQNear-infrared spectroscopyGeneral Physics and AstronomyChemical modification02 engineering and technologyGeneral ChemistryPhotothermal therapy021001 nanoscience & nanotechnologyPhotochemistryArticleGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesElectron transfer030104 developmental biologyShielding effectMetal-organic frameworkAmine gas treatinglcsh:Q0210 nano-technologyPorositylcsh:ScienceNature Communications
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On the structural connectivity of large-scale models of brain networks at cellular level

2021

AbstractThe brain’s structural connectivity plays a fundamental role in determining how neuron networks generate, process, and transfer information within and between brain regions. The underlying mechanisms are extremely difficult to study experimentally and, in many cases, large-scale model networks are of great help. However, the implementation of these models relies on experimental findings that are often sparse and limited. Their predicting power ultimately depends on how closely a model’s connectivity represents the real system. Here we argue that the data-driven probabilistic rules, widely used to build neuronal network models, may not be appropriate to represent the dynamics of the …

0301 basic medicineProcess (engineering)Computer scienceScienceModels NeurologicalCellular levelMachine learningcomputer.software_genreArticle03 medical and health sciencesComputational biophysics0302 clinical medicineSettore MAT/05 - Analisi MatematicamedicineBiological neural networkHumansSettore MAT/07 - Fisica MatematicaOn the structural connectivity of large-scale models of brain networks at cellular levelSettore ING-INF/05 - Sistemi Di Elaborazione Delle InformazioniNeuronsMultidisciplinaryNetwork modelsSettore INF/01 - Informaticabusiness.industryQRProbabilistic logicBrain030104 developmental biologymedicine.anatomical_structureMathematical framework Neuron networks Large‑scale model Data‑driven probabilistic rules Modeling cellular-level brain networksMedicineNeuronArtificial intelligencebusinessScale modelcomputer030217 neurology & neurosurgeryScientific Reports
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Paving the way for synthetic biology-based bioremediation in Europe

2009

Synthetic biology (SB) has a dual definition. It is both the design and construction of new biological parts, devices and systems, and also the re‐design of existing, natural systems for useful purposes. The latter field is maybe one of the major challenges within this discipline, since the promising prospect that biological systems may be used as biomachines will certainly be exploited in the near future. Synthetic biology has challenging conceptual possibilities (Moya et al., 2009a) and impressive progress has already been made in biotechnology following SB approaches (de Lorenzo and Danchin, 2008). Much more is expected in the near future from current efforts aiming to make synthetic gen…

0303 health sciencesInternational Genetically Engineered Machinebusiness.industryComputer science0206 medical engineeringBioengineeringEnvironmental pollutionContext (language use)02 engineering and technologyPublic opinionApplied Microbiology and BiotechnologyBiochemistryBiotechnologyLiving systemsCritical mass (sociodynamics)03 medical and health sciencesSynthetic biologyConceptual frameworkEngineering ethicsbusiness020602 bioinformatics030304 developmental biologyBiotechnologyMicrobial Biotechnology
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The Semiotics of Test Design: Conceptual Framework on Optimal Item Features in Educational Assessment Across Cultural Groups, Countries, and Languages

2021

This paper offers a conceptual framework on test design from the perspective of social semiotics. Items are defined as arrangements of features intended to represent information, convey meaning, and capture information on the examinees’ knowledge or skills on a given content. The conceptual framework offers a typology of semiotic resources used to create items and discusses item representational complexity—the multiple ways in which the semiotic resources of an item are related to each other—and item semiotic alignment—the extent to which examinees share cultural experience encoded by items. Since the ability to make sense of items is shaped by the examinees’ level of familiarity with the s…

050101 languages & linguisticsTest design05 social sciences050301 educationtest designcomputer.software_genreSocial semioticslcsh:Education (General)semiotic resourcesEducationcultural groupssemioticsConceptual frameworkitem featuresEducational assessmentSemiotics0501 psychology and cognitive sciencesThe Conceptual Frameworklcsh:L7-991Psychology0503 educationcomputerCognitive loadCognitive psychologyMeaning (linguistics)Frontiers in Education
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Clients’ Experiences With Internet-Based Psychological Treatments for Mental Disorders: Protocol for a Metasynthesis of Qualitative Studies

2018

Background: Given the rise of internet-based treatments as an effective therapeutic tool for psychological disorders, it is necessary to carry out research that examines clients’ experiences with this type of intervention. The qualitative methodology has been found to be useful for analyzing clients’ perceptions in terms of facilitators and barriers, acceptability, and negative effects of internet-based treatments. However, a lack of integration of these primary studies has prevented their findings from being applied to new research and in clinical practice. Objective: The objective of this paper is to describe the protocol for a metasynthesis of qualitative studies exploring the experience…

050103 clinical psychologybarriersSample (statistics)PsycINFOmetasynthesis03 medical and health sciences0302 clinical medicineIntervention (counseling)Protocol0501 psychology and cognitive sciencesRelevance (information retrieval)internet-based treatmentclients’ experiencesProtocol (science)Medical educationbusiness.industry05 social sciencesGeneral Medicine030227 psychiatryConceptual frameworkqualitativefacilitatorsThe InternetbusinessPsychologyQualitative researchJMIR Research Protocols
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Improving Online Interaction Among Blended Distance Learners at Makerere University

2017

This article reports on a study done to improve interaction among distance learners offering the blended Bachelor of Education (B.Ed.) programme at Makerere University. The study attempts to answer the question: How can a Learning Management System be used to improve learner interaction on the blended B.Ed. programme at Makerere University? The study adopted the Affordance eLearning Design Framework. This study was done among 54 students studying a Policy Planning and Implementation course on the B.Ed. programme. The study employed qualitative approaches to data collection and analysis. These included semi-structured interviews and observation of the interaction logs within the groups and o…

060201 languages & linguisticsDesign frameworkData collectionmedia_common.quotation_subject05 social sciences050301 education06 humanities and the artsBachelorPolicy planning0602 languages and literatureComputingMilieux_COMPUTERSANDEDUCATIONMathematics educationLearning ManagementTUTORAffordanceGrading (education)Psychology0503 educationcomputercomputer.programming_languagemedia_common
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Multimodal conversation analysis and CLIL classroom practices

2017

This chapter introduces multimodal Conversation Analysis (CA) as a research framework for CLIL classroom interaction. We begin by presenting key methodological principles of CA and discussing how CA has recently broadened its analytical focus to examine how modalities such as gestures and texts are used as resources for interaction. Following this, we review recent (multimodal) CA work that has investigated teaching and learning practices in classrooms involving second language users, such as in CLIL and immersion settings. To illustrate the described methodological orientation, we briefly analyse one video-recorded interaction and conclude by suggesting research areas related to CLIL class…

060201 languages & linguisticsmultimodal conversation analysisModalitiesResearch areasCLILkeskustelunanalyysi05 social sciencesta612106 humanities and the arts050105 experimental psychologyConversation analysisSecond languageConceptual frameworkvieraskielinen opetus0602 languages and literaturePedagogyta5160501 psychology and cognitive sciencesPsychologymultimodaalisuusGesture
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Performance Assessment of Critical Thinking: Conceptualization, Design, and Implementation

2020

Enhancing students’ critical thinking (CT) skills is an essential goal of higher education. This article presents a systematic approach to conceptualizing and measuring CT. CT generally comprises the following mental processes: identifying, evaluating, and analyzing a problem; interpreting information; synthesizing evidence; and reporting a conclusion. We further posit that CT also involves dealing with dilemmas involving ambiguity or conflicts among principles and contradictory information. We argue that performance assessment provides the most realistic—and most credible—approach to measuring CT. From this conceptualization and construct definition, we describe one possible framework for …

21st century skillsConceptualizationComputer scienceassessment framework05 social sciencesInformation processing050301 educationRubricscoring rubricevidence-centered designData sciencelcsh:Education (General)050105 experimental psychologyEducationEmpirical researchCritical thinking0501 psychology and cognitive sciencesUse casecritical thinkingperformance assessmentlcsh:L7-991Set (psychology)Construct (philosophy)0503 educationFrontiers in Education
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Ultrathin films of layered coordination polymers: charge transport and spin crossover at the nanoscale

2019

La present tesi doctoral ha estat realitzada com a compendi de publicacions i porta per títol "Pel·lícules ultrafines de polímers de coordinació en capes: transport de càrrega i transició d'espín en la nanoescala" (Ultrathin films of layered coordination polymers: charge transport and spin-crossover at the nanoscale). Aquesta es divideix en quatre capítols a més d'un capítol final de conclusions i resums en castellà i valencià. El primer capítol consisteix d'una introducció general enfocada cap a donar una visió general del transport de càrrega en xarxes metall-orgàniques (de l'anglès metal-organic frameworks, MOFs) i polímers de coordinació (de l'anglès coordination polymers, CPs), així co…

230307 - Compostos coordinatsSelf-assembled monolayer221128 - SuperficiesElectrical conductivity230407 - Polimers inorgànics120325 - Diseny de sistemes sensorsThin filmSpin crossoverMetal-Organic FrameworksX-ray absorptionSurface magnetismLangmuir-Blodgett films
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