Search results for "response"

showing 10 items of 4136 documents

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

2017

PubMed ID: 29047407

lcsh:MedicineFamilial Mediterranean feverCaps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Databases Genetic; Europe; Hereditary Autoinflammatory Diseases; Humans; Retrospective Studies; Genetic Association Studies; Registries0302 clinical medicineHereditary recurrent feverInfeversDatabases GeneticPharmacology (medical)030212 general & internal medicineRegistriesGenetics (clinical)EurofeverGeneral MedicineMEFVResponse to treatmentCapHereditary recurrent fevers3. Good healthGenotype-phenotype associationTrapEuropeComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMSInformationSystems_MISCELLANEOUSInflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5]medicine.medical_specialtyGenotype-Phenotype AssociationInfever03 medical and health sciencesDatabasesFMFGeneticInternal medicineJournal ArticlemedicineHumansHereditary Recurrent FeversIn patientMKDTrapsGenetic Association StudiesRetrospective Studies030203 arthritis & rheumatologyGenotype-phenotype associationsbusiness.industryResearchlcsh:RComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKSHereditary Autoinflammatory DiseasesRetrospective cohort studymedicine.diseaseHuman geneticsComputingMethodologies_PATTERNRECOGNITIONCapsbusinessCaps; Eurofever; FMF; Genotype-phenotype associations; Hereditary recurrent fevers; Infevers; MKD; Traps; Genetics (clinical); Pharmacology (medical)
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Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of Atrip-Seckel syndrome

2020

ABSTRACT Seckel syndrome is a type of microcephalic primordial dwarfism (MPD) that is characterized by growth retardation and neurodevelopmental defects, including reports of retinopathy. Mutations in key mediators of the replication stress response, the mutually dependent partners ATR and ATRIP, are among the known causes of Seckel syndrome. However, it remains unclear how their deficiency disrupts the development and function of the central nervous system (CNS). Here, we investigated the cellular and molecular consequences of ATRIP deficiency in different cell populations of the developing murine neural retina. We discovered that conditional inactivation of Atrip in photoreceptor neurons …

lcsh:MedicineMedicine (miscellaneous)315BlindnessMicechemistry.chemical_compoundImmunology and Microbiology (miscellaneous)Cell DeathneurodevelopmentStem CellsNeurodegenerationapoptosisneurodegenerationSyndromeCell biologyDNA-Binding Proteinsdna damage responsemedicine.anatomical_structurePhotoreceptor Cells VertebrateResearch Articlelcsh:RB1-214NeurogenesisNeuroscience (miscellaneous)Embryonic DevelopmentBiologyRetinaGeneral Biochemistry Genetics and Molecular Biologylcsh:PathologymedicineAnimalsAbnormalities MultipleProgenitor cellVision OcularAdaptor Proteins Signal TransducingCell ProliferationProgenitorRetinalcsh:RRetinalEmbryo Mammalianmedicine.diseasephotoreceptorDisease Models AnimalSeckel syndromechemistryvisual system developmentNerve DegenerationRetinal dysplasiaRetinal DysplasiaTumor Suppressor Protein p53Primordial dwarfismDNA DamageDisease Models & Mechanisms
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Relationship Between Oxidative Stress, ER Stress, and Inflammation in Type 2 Diabetes: The Battle Continues

2019

Type 2 diabetes (T2D) is a metabolic disorder characterized by hyperglycemia and insulin resistance in which oxidative stress is thought to be a primary cause. Considering that mitochondria are the main source of ROS, we have set out to provide a general overview on how oxidative stress is generated and related to T2D. Enhanced generation of reactive oxygen species (ROS) and oxidative stress occurs in mitochondria as a consequence of an overload of glucose and oxidative phosphorylation. Endoplasmic reticulum (ER) stress plays an important role in oxidative stress, as it is also a source of ROS. The tight interconnection between both organelles through mitochondrial-associated membranes (MAM…

lcsh:MedicineReviewOxidative phosphorylationMitochondrionmedicine.disease_cause03 medical and health sciences0302 clinical medicineInsulin resistanceinsulin resistanceoxidative stressMedicineGlucose homeostasis030304 developmental biologychemistry.chemical_classification0303 health sciencesReactive oxygen speciesbusiness.industrylcsh:RROSGeneral Medicinemedicine.diseaseCell biologymitochondriaantioxidantschemistryLipotoxicity030220 oncology & carcinogenesisUnfolded protein responsetype 2 diabetesER stressbusinessOxidative stressJournal of Clinical Medicine
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cis-regulatory variation modulates susceptibility to enteric infection in the Drosophila genetic reference panel

2020

Abstract Background Resistance to enteric pathogens is a complex trait at the crossroads of multiple biological processes. We have previously shown in the Drosophila Genetic Reference Panel (DGRP) that resistance to infection is highly heritable, but our understanding of how the effects of genetic variants affect different molecular mechanisms to determine gut immunocompetence is still limited. Results To address this, we perform a systems genetics analysis of the gut transcriptomes from 38 DGRP lines that were orally infected with Pseudomonas entomophila. We identify a large number of condition-specific, expression quantitative trait loci (local-eQTLs) with infection-specific ones located …

lcsh:QH426-470Quantitative Trait Locimotifsallele-specific expressionPolymorphism Single Nucleotidecomplex traitsgenerationPseudomonasAnimalsDrosophila ProteinsRegulatory Elements Transcriptionallcsh:QH301-705.5AllelesBinding SitesResearchF-Box ProteinsassociationForkhead Transcription FactorsGastrointestinal Tractlcsh:GeneticsDrosophila melanogasterlcsh:Biology (General)dissectionresponsesFemaleTranscriptomerevealsdiscoveryGenome Biology
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Resveratrol, MicroRNAs, Inflammation, and Cancer

2011

MicroRNAs are short noncoding RNAs that regulate the expression of many target genes posttranscriptionally and are thus implicated in a wide array of cellular and developmental processes. The expression ofmiR-155ormiR-21is upregulated during the course of the inflammatory response, but these microRNAs are also considered oncogenes due to their upregulation of expression in several types of tumors. Furthermore, it is now well established that inflammation is associated with the induction or the aggravation of nearly 25% of cancers. Therefore, the above microRNAs are thought to link inflammation and cancer. Recently, resveratrol (trans-3,4′,5-trihydroxystilbene), a natural polyphenol with ant…

lcsh:QH426-470business.industryInflammatory responseCancerInflammationReview ArticleResveratrolBioinformaticsmedicine.diseaseBiochemistrylcsh:Biochemistrychemistry.chemical_compoundlcsh:GeneticsDownregulation and upregulationchemistrymicroRNACancer researchMedicinelcsh:QD415-436medicine.symptombusinessMolecular BiologyGeneHuman cancerJournal of Nucleic Acids
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Could Low-Frequency Electromyostimulation Training be an Effective Alternative to Endurance Training? An Overview in One Adult

2014

This preliminary study aimed to investigate the effects of a six-week low-frequency electromyostimulation training (10Hz) on the cardiovascular, respiratory and muscular systems. To that purpose, aerobic capacity, knee extensor muscles strength and architecture, muscle sympathetic nervous activity, blood pressure and heart rate have been evaluated in one healthy male subject (33 year-old, 1.73 m, 73 kg). Results showed improvement of aerobic capacity (+4.5% and +11.5% for maximal oxygen uptake and ventilatory threshold) and muscle strength (+11% and +16% for voluntary and evoked force). Moreover, for the first time, this study demonstrated low-frequency training effects on muscle architectu…

lcsh:SportsELECTRICAL MUSCLE STIMULATIONQUADRICEPS FEMORISHEALTHY HUMANSCase Report[SCCO] Cognitive scienceCHRONIC HEART-FAILURESYMPATHETIC-NERVE ACTIVITYaerobic capacitylcsh:GV557-1198.995muscle architectureElectrical stimulationSTRENGTHADAPTATIONSSKELETAL-MUSCLE[ SCCO ] Cognitive sciencelcsh:Sports medicinelcsh:RC1200-1245RESISTANCE EXERCISEmuscle sympathetic nervous activityRESPONSES
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Critical aspects of the physiological interactions between lead and magnesium

2021

Despite technological progress, exposure to lead is an ongoing problem. There are many mechanisms governing the toxic effects of lead on the human body. One such mechanism involves the interaction of this xenobiotic with bivalent metal ions, including magnesium. Literature data suggest that the competition between these elements for binding sites at the molecular and cellular levels, as well as at the systemic level, may represent an important aspect of lead toxicity in the human body. This is especially clear in the context of oxidative stress, immune response, and gene expression modifications. This review aims to summarize current knowledge regarding these issues.

leadMechanism (biology)ChemistryHealth Toxicology and MutagenesisContext (language use)General MedicinemagnesiumToxicologyBiochemistryimmune responseXenobioticschemistry.chemical_compoundLead (geology)Gene Expression Regulationtranscription factorsMolecular MedicineHumansoxidative stressXenobioticMolecular BiologyNeuroscienceJournal of Biochemical and Molecular Toxicology
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¿Influye la Retroalimentación Correctiva en el Uso de la Retroalimentación Elaborada en un Entorno Digital?

2019

Los entornos digitales permiten proporcionar retroalimentación correctiva de verificación de respuestas (KR: correcto/incorrecto) o de respuesta correcta (KCR: la respuesta correcta es X), junto con retroalimentación elaborada (EF: explicaciones). Es frecuente asumir que los estudiantes procesan la EF, aunque investigaciones recientes demuestran que eso no siempre es así, debido probablemente a la retroalimentación correctiva proporcionada junto con la EF. El objetivo de este trabajo es analizar la decisión voluntaria de acceder a EF en función de la retroalimentación KR y KCR recibida inmediatamente tras responder preguntas de un texto de ciencias. Estudiantes de secundaria recibieron retr…

learningSocial Psychologylcsh:BF1-99005 social sciencesControl (management)050301 educationCorrect responseelaborated feedback050105 experimental psychologylcsh:Psychologylcsh:Bdigital environmentsDevelopmental and Educational Psychology0501 psychology and cognitive sciencesCorrective feedbackcorrective feedbaclcsh:Philosophy. Psychology. ReligionPsychology0503 educationCognitive psychologyPsicología Educativa
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Ruta chalepensis L. (Rutaceae) leaf extract: chemical composition, antioxidant and hypoglicaemic activities.

2017

Ruta chalepensis L. (Rutaceae) leaf extract was investigated for its chemical profile and antioxidant and hypoglycaemic properties. The antioxidant effects were investigated by 2,2-diphenyl-1-picrylhydrazyl (DPPH), Chi-carotene bleaching, and metal chelating activity assays. The carbohydrate-hydrolysing enzymes inhibition assay was used to test the hypoglycaemic potential. R. chalepensis showed a high content of hesperidin and rutin with values of 591.9 and 266.7 mg/g dry extract, respectively. The extract exhibited a promising protection of lipid peroxidation (IC50 value of 16.9 mu g/mL) and inhibited both alpha-amylase and alpha-glucosidase enzymes in a concentration-dependent manner. The…

leaveMetal chelating activityAntioxidantDPPHmedicine.medical_treatmentRutinHPLC analysiantioxidant activityPlant Science01 natural sciencesBiochemistryAntioxidantsAnalytical ChemistryLipid peroxidationRutinchemistry.chemical_compoundHesperidinEnzyme InhibitorEnzyme InhibitorsTraditional medicinebiologyHydrolysisbeta CaroteneRuta chalepensisAntioxidantPlant Leavehypoglycaemic activityPlant Extractalpha-AmylaseInhibitory Concentration 50PicratesRuta chalepensiBotanymedicineGlycoside Hydrolase InhibitorsGlycoside Hydrolase InhibitorRutaDose-Response Relationship Drug010405 organic chemistryPlant ExtractsHesperidinOrganic ChemistryBiphenyl CompoundsSettore CHIM/06 - Chimica Organicabiology.organism_classificationHydrolysi0104 chemical sciencesPlant Leaves010404 medicinal & biomolecular chemistryRutaceaechemistryBiphenyl CompoundPicrateLipid Peroxidationalpha-AmylasesNatural product research
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Spectroscopic and Structural Investigation of the Confinement of D and L Dimethyl Tartrate in Lecithin Reverse Micelles

2009

The confinement of D and L dimethyl tartrate in lecithin reverse micelles dispersed in cyclohexane has been investigated by FT-IR, polarimetry, electronic and vibrational circular dichroism (ECD and VCD), 1H NMR, and small-angle X-ray scattering (SAXS). Measurements have been performed at room temperature as a function of the solubilizate-to-surfactant molar ratio (R) at fixed lecithin concentration. The analysis of experimental data indicates that the dimethyl tartrate molecules are solubilized within reverse micelles in proximity to the surfactant head groups in the same way for the D and L forms. The encapsulation of dimethyl tatrate within lecithin reverse micelles involves changes in i…

lecithin dimethyl tartrate FT-IR polarimetry circular dichroism NMR SAXSfood.ingredientCyclohexanemicellesTartrateLecithinMicellePolyethylene Glycolschemistry.chemical_compoundfoodLecithinsMaterials ChemistryOrganic chemistryPhysical and Theoretical ChemistryTartratesModels StatisticalDose-Response Relationship DrugChemistry PhysicalViscosityChemistrySmall-angle X-ray scatteringTemperaturetechnology industry and agricultureElasticitySurfaces Coatings and FilmslecithinModels ChemicalSpectrophotometryVibrational circular dichroismMicellar solutionsPhosphatidylcholinesProton NMRPhysical chemistrylipids (amino acids peptides and proteins)Rheologydimethyl tartrate
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