Search results for "sense"

showing 10 items of 3076 documents

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

2018

Skin affections after sulfur mustard (SM) exposure include erythema, blister formation and severe inflammation. An antidote or specific therapy does not exist. Anti-inflammatory compounds as well as substances counteracting SM-induced cell death are under investigation. In this study, we investigated the benzylisoquinoline alkaloide berberine (BER), a metabolite in plants like berberis vulgaris, which is used as herbal pharmaceutical in Asian countries, against SM toxicity using a well-established in vitro approach. Keratinocyte (HaCaT) mono-cultures (MoC) or HaCaT/THP-1 co-cultures (CoC) were challenged with 100, 200 or 300 mM SM for 1 h. Post-exposure, both MoC and CoC were treated with 1…

0301 basic medicineAdultMaleCell typeResearchInstitutes_Networks_Beacons/MICRAIn silicotaittovirheetGenome-wide association studyRetinal Pigment EpitheliumBiologyBlindnessPolymorphism Single NucleotideSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]ArticleRetinaWhite People03 medical and health sciencesHIGH-GRADE MYOPIA ; RETINAL-PIGMENT EPITHELIUM ; SEROTONIN PATHWAY GENES ; FORM-DEPRIVATION MYOPIA ; COMMON VARIANTS ; OCULAR GROWTH ; RETINITIS-PIGMENTOSA ; GENOTYPE IMPUTATION ; MISSENSE MUTATIONS ; DOPAMINE-RECEPTORSAsian Peoplerefractive errorsRetinitis pigmentosaGeneticsmedicineMyopiaJournal ArticleHumansGenetic Predisposition to Disease610 Medicine & healthRegulation of gene expressionRetinaRetinal pigment epitheliummedicine.diseaseRefractive Errors030104 developmental biologymedicine.anatomical_structureManchester Institute for Collaborative Research on AgeingGene Expression Regulationgenetic factorsEye disorderFemalesense organsgeneettiset tekijätNeuroscienceGenome-Wide Association StudySignal Transduction
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Secular trends in Dietary Inflammatory Index among adults in the United States, 1999-2014.

2018

Objective: The objective of this study was to evaluate secular trends in Dietary Inflammatory Index (DII) scores in the United States between 1999 and 2014. Methods: Data from adults over 19 years from the 1999 to 2014 National Health and Nutrition Examination Survey (N = 39,191) were used. DII scores, at each 2-year cycle, were evaluated from a 24-h recall, including 26 food parameters for DII calculation. Analyses were conducted in 2018. Results: For the entire sample, there was a quadratic trend (Ptrend < 0.001), with the DII scores peaking in 2003–2004, and then decreasing during the cycles from 2005 to 2014. Similar quadratic trends (Ptrend < 0.001) were observed by age, gender, …

0301 basic medicineAdultMaleIndex (economics)National Health and Nutrition Examination SurveyPopulationEthnic groupCANCER-RISKMedicine (miscellaneous)Black People030209 endocrinology & metabolismWhite People03 medical and health sciences0302 clinical medicineMexican AmericansEthnicityMedicineHumansSOCIAL DESIRABILITYeducationInflammationeducation.field_of_study030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryMiddle AgedNutrition SurveysQuadratic trendC-REACTIVE PROTEINeye diseasesUnited StatesSecular variationDietChronic diseaseYounger adultsHEALTHY EATING INDEXChronic DiseaseEducational StatusFemalesense organsbusinessDemographyEuropean journal of clinical nutrition
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Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.

2019

In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. Since then, no other cases of KIAA1033 variants have been reported. Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous KIAA1033 variants ascertained by exome sequencing (ES). Two sisters, aged 4 and 5.5 years, had a stop-gain and a missense variants, each inherited from one parent (p.(Gln442*) and p.(Asp1048Gly)). Both had learning disabilities, macrocephaly, dysmorphic features, skeletal anomalies, and subependymal heterot…

0301 basic medicineAdultMaleMicrocephaly030105 genetics & heredityCompound heterozygosityShort stature03 medical and health sciencesKIAA0196Intellectual DisabilityIntellectual disabilityGeneticsMedicineMissense mutationHumansGenetics (clinical)Exome sequencingGeneticsbusiness.industryMacrocephalyInfant NewbornIntracellular Signaling Peptides and Proteinsmedicine.diseasePedigreeProtein Subunits030104 developmental biologyPhenotypeChild PreschoolMutationFemalemedicine.symptombusinessAmerican journal of medical genetics. Part AREFERENCES
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Effect of ABC transporter expression and mutational status on survival rates of cancer patients

2020

ATP-binding cassette (ABC) transporters mediate multidrug resistance in cancer. In contrast to DNA single nucleotide polymorphisms in normal tissues, the role of mutations in tumors is unknown. Furthermore, the significance of their expression for prediction of chemoresistance and survival prognosis is still under debate. We investigated 18 tumors by RNA-sequencing. The mutation rate varied from 27,507 to 300885. In ABCB1, three hotspots with novel mutations were in transmembrane domains 3, 8, and 9. We also mined the cBioPortal database with 11,814 patients from 23 different tumor entities. We performed Kaplan-Meier survival analyses to investigate the effect of ABC transporter expression …

0301 basic medicineAdultMaleMutation rateNonsense mutationSingle-nucleotide polymorphismATP-binding cassette transporterRM1-950BiologyMultidrug resistanceP-glycoproteinPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineNeoplasmsmedicineMissense mutationHumansSurvival analysisAgedCancerPharmacologyAged 80 and overPrognostic factorSequence Analysis RNACancerABCB5General MedicineMiddle AgedSurvival analysismedicine.diseaseMolecular Docking SimulationSurvival Rate030104 developmental biologyABC transporters030220 oncology & carcinogenesisMutationCancer researchATP-Binding Cassette TransportersFemaleTherapeutics. PharmacologyBiomedicine & Pharmacotherapy
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SOX2 expression diminishes with ageing in several tissues in mice and humans.

2017

SOX2 (Sex-determining region Y box 2) is a transcription factor expressed in several foetal and adult tissues and its deregulated activity has been linked to chronic diseases associated with ageing. Nevertheless, the level of SOX2 expression in aged individuals at the tissue level has not previously been examined. In this work, we show that SOX2 expression decreases significantly in the brain with ageing, in both humans and rodents. The administration of resveratrol for 6 months in mice partly attenuated this reduction. We also identified an age-related decline in SOX2 mRNA and protein expression in several other organs, namely, the lung, heart, kidney, spleen and liver. Moreover, periphera…

0301 basic medicineAdultMalemedicine.medical_specialtyAgingSOX2SpleenResveratrolBiologyPeripheral blood mononuclear cellGene Expression Regulation Enzymologic03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineSOX2stomatognathic systemInternal medicinemedicineAnimalsHumansCyclin-Dependent Kinase Inhibitor p16Aged 80 and overKidneyMessenger RNASOXB1 Transcription FactorsfungiMiddle AgedAgeing030104 developmental biologymedicine.anatomical_structureEndocrinologychemistryAgeingOrgan Specificityembryonic structuresLeukocytes MononuclearBiomarker (medicine)Femalesense organsbiological phenomena cell phenomena and immunity030217 neurology & neurosurgeryBiomarkersDevelopmental BiologyMechanisms of ageing and development
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Molecular and clinical studies in five index cases with novel mutations in the GLA gene

2016

Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…

0301 basic medicineAdultMalep.R227Pnovel moutationAdolescentc.639 + 5G > TMutation MissenseBiologyLeft ventricular hypertrophy03 medical and health sciencesExonYoung Adult0302 clinical medicineSettore BIO/13 - Biologia ApplicataGeneticsmedicinefabry; novel moutationMissense mutationAlpha-galactosidase AHumansPoint MutationCornea verticillataGenetic Predisposition to DiseaseChildfabryGLA genec.846_847delTCGeneticsAlpha-galactosidasePoint mutationFabry disease; Alpha-galactosidase A; c.846_847delTC; p.E341X; p.C382X; p.R227P; c.639 + 5G > Tp.E341XGeneral MedicineMiddle Agedmedicine.diseaseMolecular biologyFabry diseaseStop codon030104 developmental biologyp.C382Xalpha-Galactosidasebiology.proteinFabry DiseaseFemalemedicine.symptom030217 neurology & neurosurgery
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Peripapillary fluorescence lifetime reveals age-dependent changes using fluorescence lifetime imaging ophthalmoscopy in rats

2017

Abstract Many fundus diseases accompany fundus autofluorescence change. Fluorescence lifetime imaging ophthalmoscope (FLIO) is a latest technique in imaging fundus autofluorescence. With FLIO, the fundus fluorescence lifetime (FLT) is recorded topographically, assisting to diagnose and monitor multiple fundus diseases. The purpose of this study was to evaluate the repeatability of FLT using FLIO on adult rats and to analyze the age-dependency of the peripapillary FLT of the fundus in a short spectral channel (498–560 nm) and a long spectral channel (560–720 nm). Sprague Dawley rats (n of eyes = 10) were used for repeatability experiments. Age-dependent changes were investigated in young (tw…

0301 basic medicineAgingmedicine.medical_specialtyFluorescence-lifetime imaging microscopygenetic structuresFundus OculiOptic DiskAge dependentFundus (eye)FluorescenceRetinaRats Sprague-DawleyOphthalmoscopy03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineOphthalmologySprague dawley ratsAnimalsMedicineFluorescein Angiographymedicine.diagnostic_testbusiness.industryReproducibility of ResultsRepeatabilityFluorescenceeye diseasesSensory SystemsFundus autofluorescenceRatsOphthalmoscopyOphthalmology030104 developmental biologyModels Animal030221 ophthalmology & optometryFemalesense organsbusinessExperimental Eye Research
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Subchronic vortioxetine treatment -but not escitalopram- enhances pyramidal neuron activity in the rat prefrontal cortex.

2017

Abstract Vortioxetine (VOR) is a multimodal antidepressant drug. VOR is a 5-HT 3 -R, 5-HT 7 -R and 5-HT 1D -R antagonist, 5-HT 1B -R partial agonist, 5-HT 1A -R agonist, and serotonin transporter (SERT) inhibitor. VOR shows pro-cognitive activity in animal models and beneficial effects on cognitive dysfunction in major depressive patients. Here we compared the effects of 14-day treatments with VOR and escitalopram (ESC, selective serotonin reuptake inhibitor) on neuronal activity in the medial prefrontal cortex (mPFC). Ten groups of rats (5 standard, 5 depleted of 5-HT with p -chlorophenylalanine -pCPA-, used as model of cognitive impairment) were fed with control food or with two doses of …

0301 basic medicineAgonistMalegenetic structuresmedicine.drug_classSerotonin reuptake inhibitorAction PotentialsPrefrontal CortexPharmacologyCitalopramSulfidesPartial agonistPiperazines03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicinemedicinePremovement neuronal activityAnimalsRats WistarSerotonin transporterPharmacologyVortioxetinebiologyPyramidal CellsAntagonistAntidepressive AgentsRats030104 developmental biologybiology.proteinAntidepressantVortioxetinesense organsPsychologyNeuroscience030217 neurology & neurosurgerySelective Serotonin Reuptake InhibitorsNeuropharmacology
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Green Tea Catechins Induce Inhibition of PTP1B Phosphatase in Breast Cancer Cells with Potent Anti-Cancer Properties: In Vitro Assay, Molecular Docki…

2020

The catechins derived from green tea possess antioxidant activity and may have a potentially anticancer effect. PTP1B is tyrosine phosphatase that is oxidative stress regulated and is involved with prooncogenic pathways leading to the formation of a.o. breast cancer. Here, we present the effect of selected green tea catechins on enzymatic activity of PTP1B phosphatase and viability of MCF-7 breast cancer cells. We showed also the computational analysis of the most effective catechin binding with a PTP1B molecule. We observed that epigallocatechin, epigallocatechin gallate, epicatechin, and epicatechin gallate may decrease enzymatic activity of PTP1B phosphatase and viability of MCF-7 cells.…

0301 basic medicineAntioxidantPhysiologymedicine.medical_treatmentClinical BiochemistryPhosphataseProtein tyrosine phosphataseEpigallocatechin gallateBiochemistrycomplex mixturesArticle03 medical and health scienceschemistry.chemical_compound0302 clinical medicinebreast cancermedicineheterocyclic compoundsViability assayMolecular Biologyepigallocatechinprotein tyrosine phosphatase inhibitorChemistrylcsh:RM1-950food and beveragesPTP1BCell BiologyCatechin bindingIn vitro030104 developmental biologyEpicatechin gallatelcsh:Therapeutics. PharmacologyBiochemistrySettore CHIM/03 - Chimica Generale E Inorganica030220 oncology & carcinogenesissense organshormones hormone substitutes and hormone antagonistsgreen tea catechinsAntioxidants
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Impact of Fermentation on the Recovery of Antioxidant Bioactive Compounds from Sea Bass Byproducts

2020

The aim of the present research was to obtain antioxidant compounds through the fermentation of fish byproducts by bacteria isolated from sea bass viscera. To that purpose, bacteria from sea bass stomach, intestine, and colon were isolated. With the selected bacteria, growing research was undertaken, fermenting different broths prepared with sea bass meat or byproducts. After the fermentation, the antioxidant activity, phenolic acids, and some proteins were evaluated. The main phenolic acids obtained were DL-3-phenyl-lactic acid and benzoic acid at a maximum concentration of 466 and 314 ppb, respectively. The best antioxidant activity was found in the extracts obtained after the fermentatio…

0301 basic medicineAntioxidantPhysiologymedicine.medical_treatmentClinical Biochemistryantioxidant activityPositive correlationBiochemistryArticle03 medical and health scienceschemistry.chemical_compound0404 agricultural biotechnologymedicinefishing industry byproducts14. Life underwaterFood scienceSea bassMolecular BiologyfermentationBenzoic acidbiologylcsh:RM1-950Ambientalefood and beverages04 agricultural and veterinary sciencesCell Biologybiology.organism_classification040401 food scienceLactic acidAntioxidant capacity030104 developmental biologylcsh:Therapeutics. PharmacologychemistryAntioxidant activity; Bioactive peptides; Fermentation; Fishing industry byproducts; Phenolic acidsFermentationsense organsphenolic acidsbioactive peptidesBacteriaAntioxidants
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