Search results for "RDA"

showing 10 items of 1560 documents

Direct observation of alpha-lactalbumin, adsorption and incorporation into lipid membrane and formation of lipid/protein hybrid structures

2019

The interaction between proteins and membranes is of great interest in biomedical and biotechnological research for its implication in many functional and dysfunctional processes. We present an experimental study on the interaction between model membranes and alpha-lactalbumin (alpha-La). alpha-La is widely studied for both its biological function and its anti-tumoral properties. We use advanced fluorescence microscopy and spectroscopy techniques to characterize alpha-La-membrane mechanisms of interaction and alpha-La-induced modifications of membranes when insertion of partially disordered regions of protein chains in the lipid bilayer is favored. Moreover, using fluorescence lifetime imag…

0301 basic medicineFluorescence-lifetime imaging microscopyProtein ConformationLipid BilayersBiophysics02 engineering and technologyBiochemistryMembrane Lipids03 medical and health sciencesProtein structureMembrane fluidityFluorescence microscopeAnimalsHumansLipid bilayerMolecular BiologyFluorescent DyesChemistryMembrane structure021001 nanoscience & nanotechnologyLipids2-PHOTON FLUORESCENCE MICROSCOPY; MOLTEN GLOBULE STATE; PARTIALLY FOLDED CONFORMATIONS; PROTEIN INTERACTIONS; CIRCULAR-DICHROISM; AMPHITROPIC PROTEINS; AMYLOID AGGREGATION; PHASOR APPROACH; OLEIC-ACID; LAURDANSpectrometry Fluorescence030104 developmental biologyMembranefluorescence FLIM Protein membrane interaction IDPLactalbuminBiophysicsCattleAdsorption0210 nano-technologyProtein adsorptionBiochimica et Biophysica Acta (BBA) - General Subjects
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Haplotype reference consortium panel: Practical implications of imputations with large reference panels.

2017

Contains fulltext : 177754.pdf (Publisher’s version ) (Open Access) Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, that is, 1000 genomes project (1000GP) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed genotypes at common, and especially, low-frequency variants. Furthermore, we performed a genome-wide association meta-analysis of vertical cup-disc ratio, a highly heritable endophenotype of glaucoma, in four cohorts usin…

0301 basic medicineGenotypeConcordanceGenome-wide association study610 Medicine & healthBiologyPolymorphism Single NucleotideSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciencesGene FrequencyGeneticsAssociation studies Imputation 1000 Genomes Project reference Panel Haplotype Reference Consortium Vertical cup-disc ratioHumansExome1000 Genomes Project610 Medicine & healthExomeAllele frequencyGenetics (clinical)Genetic associationGeneticsGenome HumanHaplotypeGenetic Variation030104 developmental biologyHaplotypesImputation (genetics)Genome-Wide Association Study
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Molecular characterisation, evolution and expression analysis of g-type lysozymes in Ciona intestinalis

2017

Lysozyme is an important defense molecule of the innate immune system. Known for its bactericidal properties, lysozyme catalyzes the hydrolysis of b-(1,4)-glycosidic bonds between the N-acetyl glucosamine and N-acetyl muramic acid in the peptidoglycan layer of bacterial cell walls. In this study, the complete coding sequence of four g-type lysozymes were identified in Ciona intestinalis. Phylogenetic analysis and modelling supported the hypothesis of a close relationship with the vertebrate g-type lysozymes suggesting that the C. intestinalis g-type lysozyme genes (CiLys-g1, Cilys-g2, CiLys-g3, CiLys-g4) share a common ancestor in the chordate lineage. Protein motif searches indicated that …

0301 basic medicineLipopolysaccharidesImmunologySettore BIO/05 - ZoologiaChordateBacterial cell structureMicrobiologyEvolution Molecular03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBacteriolysisGeeseAnimalsCiona intestinalisCloning MolecularStructural motifGeneCells CulturedPhylogenyInnate immune systembiologyBacterial Infectionsbiology.organism_classificationBiological EvolutionImmunity InnateCiona intestinalisAscidian Lysozymes g-type Inflammation LPS Ciona intestinalis030104 developmental biologyBiochemistrychemistry030220 oncology & carcinogenesisPharynxMuramidasePeptidoglycanLysozymeTranscriptomeDevelopmental Biology
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The Complete Structure of the Core Oligosaccharide from Edwardsiella tarda EIB 202 Lipopolysaccharide

2017

The chemical structure and genomics of the lipopolysaccharide (LPS) core oligosaccharide of pathogenic Edwardsiella tarda strain EIB 202 were studied for the first time. The complete gene assignment for all LPS core biosynthesis gene functions was acquired. The complete structure of core oligosaccharide was investigated by 1H and 13C nuclear magnetic resonance (NMR) spectroscopy, electrospray ionization mass spectrometry MSn, and matrix-assisted laser-desorption/ionization time-of-flight mass spectrometry. The following structure of the undecasaccharide was established: The heterogeneous appearance of the core oligosaccharide structure was due to the partial lack of β-d-Galp and the replace…

0301 basic medicineLipopolysaccharidesMagnetic Resonance SpectroscopyChemical structureElectrospray ionization030106 microbiologyOligosaccharidesTandem mass spectrometryMass spectrometry<i>Edwardsiella tarda</i>; core oligosaccharide; MALDI-TOF MS; ESI MS<sup>n</sup>; NMR; genomicESI MSnCatalysisArticleInorganic Chemistrylcsh:Chemistrycore oligosaccharidegenomic03 medical and health scienceschemistry.chemical_compoundBiosynthesisTandem Mass SpectrometryBacterial geneticsMALDI-TOF MSPhysical and Theoretical ChemistryMolecular Biologylcsh:QH301-705.5Edwardsiella tardaSpectroscopyGenètica bacterianabiologyChemistryOrganic ChemistryEdwardsiella tardaGeneral MedicineNuclear magnetic resonance spectroscopybiology.organism_classificationNMRComputer Science ApplicationsMatrix-assisted laser desorption/ionization030104 developmental biologyBiochemistrylcsh:Biology (General)lcsh:QD1-999Carbohydrate SequencePathogenic bacteriaSpectrometry Mass Matrix-Assisted Laser Desorption-IonizationBacteris patògensInternational Journal of Molecular Sciences
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Maternal Caloric Restriction Implemented during the Preconceptional and Pregnancy Period Alters Hypothalamic and Hippocampal Endocannabinoid Levels a…

2016

Journal Article; Exposure to inadequate nutritional conditions in critical windows of development has been associated to disturbances on metabolism and behavior in the offspring later in life. The role of the endocannabinoid system, a known regulator of energy expenditure and adaptive behaviors, in the modulation of these processes is unknown. In the present study, we investigated the impact of exposing rat dams to diet restriction (20% less calories than standard diet) during pre-gestational and gestational periods on: (a) neonatal outcomes; (b) endocannabinoid content in hypothalamus, hippocampus and olfactory bulb at birth; (c) metabolism-related parameters; and (d) behavior in adult mal…

0301 basic medicineLitter (animal)hippocampuschemistry.chemical_compoundBehavioral Neuroscience0302 clinical medicineMaternal urdernutrition:Phenomena and Processes::Metabolic Phenomena::Body Composition::Body Fat Distribution::Adiposity [Medical Subject Headings]rathypothalamus:Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy [Medical Subject Headings]Original Research:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Adaptation Psychological [Medical Subject Headings]Endocannabinoid systemOlfactory BulbEndocannabinoidesNeuropsychology and Physiological PsychologyAdiposidadGestationmedicine.symptomRestricción calórica:Chemicals and Drugs::Lipids::Fatty Acids::Fatty Acids Unsaturated::Arachidonic Acids [Medical Subject Headings]medicine.medical_specialtyOffspringEmbarazo:Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Diet::Energy Intake::Caloric Restriction [Medical Subject Headings]Cognitive NeuroscienceHypothalamusBiologyDevelopmentlcsh:RC321-57103 medical and health sciencesAnsiedadRatasHyppocampusInternal medicinemedicineHipocampoÁcidos araquidónicos:Anatomy::Nervous System::Central Nervous System::Brain::Limbic System::Hippocampus [Medical Subject Headings]endocannabinoids:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Emotions::Anxiety [Medical Subject Headings]lcsh:Neurosciences. Biological psychiatry. NeuropsychiatrydevelopmentPregnancyPalmitoylethanolamideBehavior:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Neurotransmitter Agents::Endocannabinoids [Medical Subject Headings]behaviorMetabolismo Energético:Phenomena and Processes::Metabolic Phenomena::Metabolism::Energy Metabolism [Medical Subject Headings]maternal undernutrition:Anatomy::Nervous System::Central Nervous System::Brain::Limbic System::Hypothalamus [Medical Subject Headings]medicine.diseaseAdaptación psicológicaOlfactory bulb030104 developmental biologyEndocrinologyMetabolism:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Rats [Medical Subject Headings]chemistryRatWeight gainmetabolism030217 neurology & neurosurgeryHipotálamoEndocannabinoidsNeuroscienceFrontiers in Behavioral Neuroscience
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Aging and serum exomiR content in women-effects of estrogenic hormone replacement therapy.

2017

AbstractExosomes participate in intercellular messaging by transporting bioactive lipid-, protein- and RNA-molecules and -complexes. The contents of the exosomes reflect the physiological status of an individual making exosomes promising targets for biomarker analyses. In the present study we extracted exosome microRNAs (exomiRs) from serum samples of premenopausal women (n = 8) and monozygotic postmenopausal twins (n = 10 female pairs), discordant for the use of estrogenic hormone replacement therapy (HRT), in order to see whether the age or/and the use of HRT associates with exomiR content. A total of 241 exomiRs were detected by next generation sequencing, 10 showing age, 14 HRT and 10 a…

0301 basic medicineMICRORNASTranscriptomeMedicineGene Regulatory NetworksMultidisciplinaryEstradiolmicroRNAEstrogen Replacement TherapyEndocrine system and metabolic diseasesHigh-Throughput Nucleotide Sequencingta3141Middle AgedMenopausePostmenopauseDISCORDANTPOSTMENOPAUSAL WOMENTransgender hormone therapymiRNAsBiomarker (medicine)SKELETAL-MUSCLEFemaleAdultEXPRESSIONmedicine.medical_specialtyMENOPAUSEBODY-COMPOSITIONexosomesta3111ExosomeArticleestrogenic hormone replacement therapy03 medical and health sciencesBreast cancerInternal medicineHumansBREAST-CANCERbusiness.industryta1184Gene Expression ProfilingReproducibility of Resultsbiomarkersmedicine.diseaseGene expression profilingMONOZYGOTIC TWIN PAIRS030104 developmental biologyEndocrinologyPremenopauseCELLSNext-generation sequencing3111 Biomedicinemikro-RNAbusinessTranscriptomeHormone
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The Older Finnish Twin Cohort : 45 Years of Follow-up

2019

AbstractThe older Finnish Twin Cohort (FTC) was established in 1974. The baseline survey was in 1975, with two follow-up health surveys in 1981 and 1990. The fourth wave of assessments was done in three parts, with a questionnaire study of twins born during 1945–1957 in 2011–2012, while older twins were interviewed and screened for dementia in two time periods, between 1999 and 2007 for twins born before 1938 and between 2013 and 2017 for twins born in 1938–1944. The content of these wave 4 assessments is described and some initial results are described. In addition, we have invited twin-pairs, based on response to the cohortwide surveys, to participate in detailed in-person studies; these …

0301 basic medicineMaleAgingHORMONE-REPLACEMENT THERAPYphysical activityBLOOD-PRESSURECohort Studies0302 clinical medicineSurveys and QuestionnairesTwins Dizygotickohonnut verenpaineMedicinekohorttitutkimusGenetics (clinical)FinlandBiological Specimen BanksAged 80 and overalcohol1184 Genetics developmental biology physiologyObstetrics and GynecologytwinsMiddle AgedBiobankPOPULATION-BASED TWINepigenetiikkaDEPRESSIVE SYMPTOMSCohortSKELETAL-MUSCLEFemalefyysinen aktiivisuusCohort studyAdulthypertensionAlcohol DrinkinglongitudinalPhysical activityreviewPAIRS DISCORDANTpitkittäistutkimussmokingENVIRONMENTAL-INFLUENCES03 medical and health sciencesTIME PHYSICAL-ACTIVITYtupakointiDiseases in Twinscohort studyDementiaHumansGENOME-WIDE ASSOCIATIONalkoholi (päihteet)Depressive symptomsQuestionnaire studyAgedkaksostutkimusepigeneticsbusiness.industryagingBaseline surveyTwins Monozygoticmedicine.diseasekaksoset030104 developmental biologyikääntyminenPediatrics Perinatology and Child HealthTELOMERE LENGTHbusiness030217 neurology & neurosurgeryDemographyFollow-Up Studiesdementia
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The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient

2017

Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via the fusion of mitochondria. As that fusion process is known to be strongly dependent on the GTPase activity of mitofusin 2, it is postulated that the MFN2 mutation within the GTPase domain may lead to impaired GTPase activity, and in turn to mitochondrial dysfunction. The work described here has therefore sought to verify the effects of MFN2 mutation within its GTPase domain on mitochondrial and e…

0301 basic medicineMaleHydrolasesMutantMFN2lcsh:MedicineGTPaseMitochondrionmedicine.disease_causeEndoplasmic ReticulumBiochemistryGTP Phosphohydrolases0302 clinical medicineMental RetardationAnimal CellsCharcot-Marie-Tooth DiseaseMedicine and Health SciencesMissense mutationlcsh:ScienceEnergy-Producing OrganellesCells CulturedConnective Tissue CellsGeneticsMutationMultidisciplinarySecretory PathwayOrganic CompoundsMonosaccharidesTryptophanMitochondrial DNACell biologyMitochondriaEnzymesNucleic acidsChemistryNeurologyConnective TissueCell ProcessesPhysical SciencesCellular Structures and OrganellesCellular TypesAnatomyResearch ArticleForms of DNACarbohydratesMutation MissenseBiologyBioenergeticsArgininePolymorphism Single NucleotideMitochondrial Proteins03 medical and health sciencesMitofusin-2Young AdultmedicineGeneticsHumansEndoplasmic reticulumlcsh:ROrganic ChemistryChemical CompoundsBiology and Life SciencesProteinsCell BiologyDNAFibroblastsGuanosine Triphosphatase030104 developmental biologyBiological TissueGlucoseAmino Acid SubstitutionCase-Control StudiesMutationEnzymologylcsh:Q030217 neurology & neurosurgeryPLoS ONE
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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

2016

International audience; Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability, stereotyped movements, and recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected patients carrying an Xq28 duplication involving MECP2 of various sizes (228 kb to 11.7 Mb). The aim of this study was to seek recurrent malformations and attempt to determine whether variations in imaging features could be explained by differences in the size of the duplications. We showed that 93% of patients had brain MRI abnormalities such …

0301 basic medicineMalePathologyMethyl-CpG-Binding Protein 2[SDV]Life Sciences [q-bio]030105 genetics & heredityCorpus callosumLateral ventricles0302 clinical medicineGene DuplicationIKBKGFLNAChildGenetics (clinical)GeneticsBrain Diseasesmedicine.diagnostic_testMiddle AgedPrognosisMagnetic Resonance ImagingHypotonia3. Good healthPedigree[SDV] Life Sciences [q-bio]medicine.anatomical_structurePhenotypeXq28 duplicationChild PreschoolFemalemedicine.symptomAdultmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesAdolescentGenotypeBiologygenotype-phenotype correlationWhite matter03 medical and health sciencesYoung AdultGeneticsmedicineHumansGenetic Association StudiesChromosomes Human X[ SDV ] Life Sciences [q-bio]Infant NewbornInfantMagnetic resonance imagingHyperintensitynervous system diseasesMental Retardation X-LinkedMECP2 gene030217 neurology & neurosurgeryAmerican journal of medical genetics. Part A
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Performance evaluation of gastrointestinal viral ELIte panel multiplex RT-PCR assay for the diagnosis of rotavirus, adenovirus and astrovirus infecti…

2019

Rotavirus, adenovirus, norovirus and astrovirus are considered to be among the major causes of sporadic cases and outbreaks of acute gastroenteritis globally. Rapid and accurate identification of enteric viruses is still a challenge for the clinical laboratory. Recently, several molecular platforms for the detection of viral enteric pathogens have become available. In this study, the diagnostic accuracy of InGenius Gastrointestinal Viral (GV) Elite Panel, a newly developed one-step multiplex real-time RT-PCR assay simultaneously detecting rotavirus, adenovirus and astrovirus, was evaluated retrospectively analyzing an archival collection of 128 stool samples of children hospitalized with ac…

0301 basic medicineMaleSettore MED/07 - Microbiologia E Microbiologia ClinicaAdolescentvirusesConcordanceAdenoviridae Infections030106 microbiologyInGeniuBiologymedicine.disease_causeSensitivity and SpecificityRotavirus InfectionsAstrovirus03 medical and health sciencesFecesfluids and secretionsRotavirusVirologyAstroviridae InfectionsGenotypemedicineHumansMultiplexChildRetrospective StudiesInfant Newbornvirus diseasesOutbreakInfantbiology.organism_classificationVirologyViral gastroenteritiGastroenteritis030104 developmental biologyReal-time polymerase chain reactionmultiplex RT-PCRChild PreschoolAcute DiseaseNorovirusFemaleMultiplex Polymerase Chain ReactionDiagnosiJournal of virological methods
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