Search results for "media"

showing 10 items of 27073 documents

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

2019

Supplemental Digital Content is available in the text.

0301 basic medicineLysine-tRNA LigaseMalePathologyMagnetic Resonance SpectroscopyMedizinmembrane proteins030204 cardiovascular system & hematologyMitochondrionDeafnessmedicine.disease_causeCompound heterozygosityCorrectionsLeukoencephalopathyMyelin0302 clinical medicineCytosolLeukoencephalopathies030212 general & internal medicineOvarian DiseasesTransfer RNA AminoacylationChildZebrafishMUTATIONExome sequencing10012MutationBrainMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General MedicineMiddle AgedDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]Magnetic Resonance ImagingMitochondriaProtein Transportendoplasmic reticulummedicine.anatomical_structureChild PreschoolTransfer RNAComputingMethodologies_DOCUMENTANDTEXTPROCESSING/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Biological AssayFemaleWRBRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adultcardiomyopathiesmedicine.medical_specialtyMitochondrial diseaseAminoacylationMuscle disorderBiologyArticleMEDIATES INSERTIONAmino Acyl-tRNA Synthetases03 medical and health sciencesSDG 3 - Good Health and Well-beingmedicineAnimalsPoint MutationHumansAmino Acid SequenceAlleleAllelesCOMPLEXGenetic heterogeneitybusiness.industryArsenite Transporting ATPasesLeukodystrophyGenetic Variation10090Original ArticlesZebrafish Proteinsbiology.organism_classificationDILATED CARDIOMYOPATHYmedicine.diseasezebrafishGENEMolecular biologyDisease Models Animal030104 developmental biologyMembrane protein[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics10084Neurology (clinical)Transfer RNA AminoacylationMEMBRANEbusinessSequence Alignment030217 neurology & neurosurgeryexomeNeurology
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PTEN status is a crucial determinant of the functional outcome of combined MEK and mTOR inhibition in cancer

2017

AbstractCombined MAPK/PI3K pathway inhibition represents an attractive, albeit toxic, therapeutic strategy in oncology. Since PTEN lies at the intersection of these two pathways, we investigated whether PTEN status determines the functional response to combined pathway inhibition. PTEN (gene, mRNA, and protein) status was extensively characterized in a panel of cancer cell lines and combined MEK/mTOR inhibition displayed highly synergistic pharmacologic interactions almost exclusively in PTEN-loss models. Genetic manipulation of PTEN status confirmed a mechanistic role for PTEN in determining the functional outcome of combined pathway blockade. Proteomic analysis showed greater phosphoprote…

0301 basic medicineMAPK/ERK pathwayPTENRNA interferenceprotein Kinase inhibitorsRNA Small InterferinghumansPhosphoinositide-3 Kinase InhibitorsAnimals; cell line tumor; drug synergism; everolimus; female; humans; Janus Kinase 1; MAP Kinase Kinase Kinases; mice; neoplastic stem cells; PTEN phosphohydrolase; phosphatidylinositol 3-Kinases; protein Kinase inhibitors; proto-oncogene Proteins c-akt; Pyridones; Pyrimidinones; RNA Interference; RNA Small Interfering; STAT3 Transcription Factor; TOR Serine-Threonine KinasesMultidisciplinaryMAPK/PI3K pathway inhibitiononcology MAPK/PI3K pathway inhibitionTOR Serine-Threonine Kinasescell lineMAPK/PI3K inhibition oncology. inhibition. PTEN gene mRNA cancer cell lines MEK/mTORMAP Kinase Kinase KinasesfemaleoncologymTORRNA InterferenceSTAT3 Transcription FactortumormicePyridonesMice NudePyrimidinonesBiologyphosphatidylinositol 3-KinasesSmall InterferingArticle03 medical and health sciencesMediatorSettore MED/04 - PATOLOGIA GENERALECell Line TumormedicinePTENAnimalsPI3K/AKT/mTOR pathwaydrug synergismSettore MED/06 - ONCOLOGIA MEDICAneoplastic stem cellsRPTORCancerJanus Kinase 1medicine.diseaseeverolimusproto-oncogene Proteins c-aktBlockade030104 developmental biologyCancer researchbiology.proteinRNAPTEN phosphohydrolase
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Pharmacological modulation of protein kinases as a new approach to treat addiction to cocaine and opiates.

2016

Drug addiction shares brain mechanisms and molecular substrates with learning and memory processes, such as the stimulation of glutamate receptors and their downstream signalling pathways. In the present work we provide an up-to-date review of studies that have demonstrated the implication of the main memory-related calcium-dependent protein kinases in opiate and cocaine addiction. The effects of these drugs of abuse in different animal models of drug reward, dependence and addiction are altered by manipulation of the mitogen-activated protein kinase (MAPK) family, particularly extracellular signal regulated kinase (ERK), calcium/calmodulin-dependent kinase II (CaMKII), the protein kinase C…

0301 basic medicineMAPK/ERK pathwaymedia_common.quotation_subjectIntracellular SpacePharmacology03 medical and health sciencesCocaine-Related Disorders0302 clinical medicineCa2+/calmodulin-dependent protein kinaseMedicineAnimalsHumansProtein kinase AProtein kinase Cmedia_commonPharmacologybusiness.industryKinaseAddictionCyclin-dependent kinase 5Opioid-Related Disorders030104 developmental biologybusinesscGMP-dependent protein kinaseProtein Kinases030217 neurology & neurosurgeryEuropean journal of pharmacology
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Associations between parental food choice motives, health-promoting feeding practices, and infants' fruit and vegetable intakes: the Food4toddlers st…

2020

Background: Parents influence their infants' diets and are the providers of healthy foods such as fruit and vegetables. Parental motives can influence infant's diets directly or through parental feeding practices. Objective: This study aimed to assess the associations between parental food choice motives and infants' fruit and vegetable intakes and to examine whether parental feeding practices mediated these associations. Design: A total of 298 parents participated in the Norwegian Food4toddlers study. Before the child's first birthday (mean age = 10.9 months), the parents completed an online baseline questionnaire. Five parental food choice motives were assessed: health, convenience, senso…

0301 basic medicineMEDIATIONMediation (statistics)healthy food intakelcsh:TX341-641CHILDREN030209 endocrinology & metabolismNorwegianVALIDATIONCONSTRUCTS03 medical and health sciences0302 clinical medicineEnvironmental healthFood choiceMedicine and Health SciencesQUALITYMedicinemediationPRACTICES QUESTIONNAIRE030109 nutrition & dieteticsNutrition and DieteticsNutrition Interventionsbusiness.industryPublic Health Environmental and Occupational HealthCONSUMPTIONMean ageinfantlanguage.human_languagePeer reviewDIETARY PATTERNSPRESCHOOLERSlanguageOriginal ArticleParental feedingBootstrap confidence intervalbusinessdietlcsh:Nutrition. Foods and food supplyBEHAVIORFood ScienceFoodnutrition research
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New insights into the genetic component of non-infectious uveitis through an Immunochip strategy.

2016

BACKGROUND: Large-scale genetic studies have reported several loci associated with specific disorders involving uveitis. Our aim was to identify genetic risk factors that might predispose to uveitis per se, independent of the clinical diagnosis, by performing a dense genotyping of immune-related loci.METHODS: 613 cases and 3693 unaffected controls from three European case/control sets were genotyped using the Immunochip array. Only patients with non-infectious non-anterior uveitis and without systemic features were selected. To perform a more comprehensive analysis of the human leucocyte antigen (HLA) region, SNPs, classical alleles and polymorphic amino acid variants were obtained via impu…

0301 basic medicineMale*meta-analysisSingle-nucleotide polymorphismHuman leukocyte antigenBiology*human leukocyte antigenPolymorphism Single NucleotideWhite PeopleUveitis03 medical and health sciences0302 clinical medicine*Immunochiphuman leukocyte antigenHLA AntigensRisk FactorsGeneticsmedicineJournal ArticleHumansGenotypingGenetics (clinical)Allelesnon-anterior uveitisGeneticsHaplotypenon-infectious uveitisImmunochipMiddle Agedmedicine.diseaseBirdshot chorioretinopathymeta-analysis030104 developmental biologyHaplotypesGenetic Loci*non-anterior uveitisCase-Control StudiesImmunology*non-infectious uveitis030221 ophthalmology & optometryIntermediate uveitisFemaleGene polymorphismUveitis
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Cutaneous manifestations associated with anosmia, ageusia and enteritis in SARS-CoV-2 infection - a possible pattern? Observational study and review …

2021

BACKGROUND: The cutaneous manifestations of coronavirus disease 2019 (COVID-19) have been covered insufficiently in the literature. METHODS: Thirty-nine patients admitted to the study hospital with confirmed COVID-19 who experienced various skin manifestations during hospitalization or in the convalescence period, were analysed retrospectively. RESULTS: Thirty-nine patients with COVID-19, admitted to the study hospital between 23 March and 12 September 2020, had intra-infectious rash or lesions of cutaneous vasculitis during convalescence. The most common cutaneous manifestations of COVID-19 were erythematous and erythematous papular rash. Twenty-seven of the 39 patients had anosmia (69.2%)…

0301 basic medicineMaleACE2 angiotensin‐converting enzyme 2ErythemaReceptor expressionTNF Tumor Necrosis Factor alphaInfectious and parasitic diseasesRC109-216B cells B lymphocyteslesions0302 clinical medicine030212 general & internal medicineskin and connective tissue diseasesCOVID coronavirus disease 2019media_commonEnterocolitisNK cells Natural killer cellsConvalescenceGeneral MedicineRashEnteritisInfectious DiseasesFemalemedicine.symptomCD Cluster of differentiationIHC immunohistochemistryMicrobiology (medical)medicine.medical_specialtyRT real-time reverse transcriptase–polymerase chain reactionmedia_common.quotation_subjectAnosmia030106 microbiologyAnosmiaSkin DiseasesArticle03 medical and health sciencesmedicineHumansbiopsySARS Severe acute respiratory syndrome coronavirus 2HE Hematoxylin and eosin stainRetrospective Studiescutaneous manifestationsbusiness.industrySARS-CoV-2SARS-CoV-2 infectionCOVID-19Ageusiamedicine.diseaseDermatologyPneumoniaIL 1 Interleukin 1IFN-γ Interferon γbusinessAgeusiaInternational Journal of Infectious Diseases
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Declining Physical Performance Associates with Serum FasL, miR-21, and miR-146a in Aging Sprinters.

2016

Aging is associated with systemic inflammation and cellular apoptosis accelerating physiological dysfunctions. Whether physically active way of life affects these associations is unclear. This study measured the levels of serum inflammatory and apoptotic molecules, their change over 10 years, and their associations with physical performance in sprint-trained male athletes. HsCRP, cell counts, HGB, FasL, miR-21, and miR-146a were measured cross-sectionally (n=67, 18–90 yrs) and serum FasL, miR-21, and miR-146a and their aging-related associations with physical performance were assessed over a 10-year follow-up (n=49, 50–90 yrs). The cross-sectional study showed positive age correlations for …

0301 basic medicineMaleAgingCelllcsh:MedicineSystemic inflammationBench pressFas ligandRunning0302 clinical medicineYoung adultpikajuoksijatAged 80 and overta3141General Medicineinflammatory responseMiddle Agedmedicine.anatomical_structuremedicine.symptomInflammation MediatorsResearch ArticleAdultmedicine.medical_specialtyFas Ligand ProteinArticle SubjectAdolescentGeneral Biochemistry Genetics and Molecular Biologysprinters03 medical and health sciencesYoung AdultInternal medicinemedicineHumansAgedGeneral Immunology and Microbiologybusiness.industryaginglcsh:R030229 sport sciencesphysical performanceCirculating MicroRNAMicroRNAs030104 developmental biologyEndocrinologyCross-Sectional StudiesPhysical performanceApoptosisPhysical FitnessImmunologybusinessBiomarkersFollow-Up StudiesBioMed research international
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A Stress-Resistant Lipidomic Signature Confers Extreme Longevity to Humans.

2015

Plasma lipidomic profile is species specific and an optimized feature associated with animal longevity. In the present work, the use of mass spectrometry technologies allowed us to determine the plasma lipidomic profile and the fatty acid pattern of healthy humans with exceptional longevity. Here, we show that it is possible to define a lipidomic signature only using 20 lipid species to discriminate adult, aged and centenarian subjects obtaining an almost perfect accuracy (90%-100%). Furthermore, we propose specific lipid species belonging to ceramides, widely involved in cell-stress response, as biomarkers of extreme human longevity. In addition, we also show that extreme longevity present…

0301 basic medicineMaleAgingmedia_common.quotation_subjectLongevityComputational biologyBiologyMass SpectrometryLipid peroxidation03 medical and health scienceschemistry.chemical_compound0302 clinical medicineHumansmedia_commonchemistry.chemical_classificationAged 80 and overUnsaturated lipidFatty AcidsLongevityFatty acidLipidsOxidative Stress030104 developmental biologyBiochemistrychemistryHuman longevityPotential biomarkersExtreme longevity trackingFemaleLipid PeroxidationGeriatrics and GerontologyCentenarian030217 neurology & neurosurgeryBiomarkersThe journals of gerontology. Series A, Biological sciences and medical sciences
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Exceptional human longevity is associated with a specific plasma phenotype of ether lipids

2019

A lipid profile resistant to oxidative damage is an inherent trait associated with animal lifespan. However, there is a lack of lipidomic studies on human longevity. Here we use mass spectrometry based technologies to detect and quantify 137 ether lipids to define a phenotype of healthy humans with exceptional lifespan. Ether lipids were chosen because of their antioxidant properties and ability to modulate oxidative stress. Our results demonstrate that a specific ether lipid signature can be obtained to define the centenarian state. This profile comprises higher level of alkyl forms derived from phosphatidylcholine with shorter number of carbon atoms and double bonds; and decreased content…

0301 basic medicineMaleAntioxidantmedicine.medical_treatmentClinical BiochemistryBiochemistryLipid peroxidationchemistry.chemical_compound0302 clinical medicineLongevitatlcsh:QH301-705.5media_commonlcsh:R5-920medicine.diagnostic_testLongevityLipidsFenotipEther lipidPhenotypeBiochemistryFemalelipids (amino acids peptides and proteins)lcsh:Medicine (General)Research PaperAdultmedia_common.quotation_subjectPlasmalogensLongevityEther03 medical and health sciencesCentenariansmedicineHumansFree-radical theory of agingAgedPhosphatidylethanolamineMass spectrometryOrganic ChemistryPhosphatidylethanolamineFatty acid unsaturationPhosphatidylcholine030104 developmental biologychemistryROC Curvelcsh:Biology (General)LípidsLipid profile030217 neurology & neurosurgeryAlkenyl phospholipidsAlkyl phospholipidsRedox Biology
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Dynamic longitudinal behavior in animals exposed to chronic social defeat stress

2020

AbstractChronic social defeat (CSD) can lead to impairments in social interaction and other behaviors that are supposed to model features of major depressive disorder (MDD). Not all animals subjected to CSD, however, develop these impairments, and maintained social interaction in some animals is widely used as a model for resilience to stress-induced mental dysfunctions. So far, animals have mainly been studied shortly (24 hours and 7 days) after CSD exposure and longitudinal development of behavioral phenotypes in individual animals has been mostly neglected. We have analyzed social interaction and novel object recognition behavior of stressed mice at different time points after CSD and ha…

0301 basic medicineMaleBehavioral phenotypesTime FactorsSocial SciencesSocial defeatMice0302 clinical medicineCognitionLearning and MemoryStress (linguistics)PsychologyLongitudinal Studiesmedia_commonMammalsMultidisciplinaryAnimal BehaviorBehavior AnimalQREukaryotaResilience PsychologicalLongitudinal developmentAggressionAnimal SocialityVertebratesMedicineMajor depressive disorderPsychological resilienceDisease SusceptibilityPsychologyBehavior Observation TechniquesNetwork AnalysisClinical psychologyResearch ArticleComputer and Information SciencesSciencemedia_common.quotation_subjectRodentsNetwork Resilience03 medical and health sciencesMemorymedicineAnimalsHumansInterpersonal RelationsNovel object recognitionBehaviorDepressive Disorder MajorNetwork resilience ; Visual object recognition ; Animal performance ; Behavior ; Animal sociality ; Collective animal behavior ; Animal behavior ; MiceOrganismsCognitive PsychologyBiology and Life SciencesCollective Animal Behaviormedicine.diseaseSocial relationDisease Models Animal030104 developmental biologyCollective Human BehaviorAmniotesChronic DiseaseCognitive SciencePerceptionCollective animal behaviorVisual Object RecognitionZoology030217 neurology & neurosurgeryStress PsychologicalNeurosciencePLoS ONE
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