Search results for "Processi"

showing 10 items of 9638 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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Quantity language speakers show enhanced subcortical processing

2016

Abstract The complex auditory brainstem response (cABR) can reflect language-based plasticity in subcortical stages of auditory processing. It is sensitive to differences between language groups as well as stimulus properties, e.g. intensity or frequency. It is also sensitive to the synchronicity of the neural population stimulated by sound, which results in increased amplitude of wave V. Finnish is a full-fledged quantity language, in which word meaning is dependent upon duration of the vowels and consonants. Previous studies have shown that Finnish speakers have enhanced behavioural sound duration discrimination ability and larger cortical mismatch negativity (MMN) to duration change comp…

0301 basic medicineMale6162 Cognitive scienceTime FactorsFinnish languageMismatch negativityNeural populationAudiologyGerman0302 clinical medicineWord meaningGermanyquantity languageFinlandLanguageGeneral NeuroscienceElectroencephalographyNeuropsychology and Physiological Psychologyta6131languageSpeech Perceptionbehavior and behavior mechanismsQuantity languageFemalePsychologypsychological phenomena and processesAdultmedicine.medical_specialtysuomen kieli515 PsychologyNeuroscience(all)educationStimulus (physiology)Nonmusiciansta3112behavioral disciplines and activities03 medical and health sciences6161 PhoneticsmedicineEvoked Potentials Auditory Brain StemDuration processingHumansFinnish languageCommunicationbusiness.industrycABRlanguage.human_language030104 developmental biologyAuditory brainstem responsenonmusiciansduration processingbusiness030217 neurology & neurosurgery
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CD19 Isoforms Enabling Resistance to CART-19 Immunotherapy Are Expressed in B-ALL Patients at Initial Diagnosis.

2017

Supplemental Digital Content is available in the text.

0301 basic medicineMaleCancer Researchmedicine.medical_treatmentT-LymphocytesEpitopes T-LymphocyteT-Cell Antigen Receptor SpecificityImmunotherapy AdoptiveEpitopeCohort StudiesExon0302 clinical medicineimmune system diseasesImmunology and AllergyMedicineProtein IsoformsChildAged 80 and overbiologyCD19CART-19B-ALLMiddle AgedPrecursor Cell Lymphoblastic Leukemia-Lymphomaepitope-lossmedicine.anatomical_structureTreatment Outcome030220 oncology & carcinogenesisChild PreschoolComputingMethodologies_DOCUMENTANDTEXTPROCESSINGFemaleClone (B-cell biology)Gene isoformAdultAdolescentRecombinant Fusion ProteinsImmunologyAntigens CD19Receptors Antigen T-CellCancer VaccinesCD1903 medical and health sciencesYoung AdultAntigenHumansAgedPharmacologybusiness.industryInfant NewbornisoformsInfantImmunotherapy030104 developmental biologyImmunologybiology.proteinClinical StudyTumor EscapeBone marrowbusinessJournal of immunotherapy (Hagerstown, Md. : 1997)
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Cerebello-cortical network fingerprints differ between essential, Parkinson's and mimicked tremors.

2017

Cerebello-thalamo-cortical loops play a major role in the emergence of pathological tremors and voluntary rhythmic movements. It is unclear whether these loops differ anatomically or functionally in different types of tremor. We compared age- and sex-matched groups of patients with Parkinson's disease or essential tremor and healthy controls (n = 34 per group). High-density 256-channel EEG and multi-channel EMG from extensor and flexor muscles of both wrists were recorded simultaneously while extending the hands against gravity with the forearms supported. Tremor was thereby recorded from patients, and voluntarily mimicked tremor was recorded from healthy controls. Tomographic maps of EEG-E…

0301 basic medicineMaleCerebellumEfferentEssential TremorSensory systemElectroencephalographyPremotor cortex03 medical and health sciences0302 clinical medicineCerebellumNeural PathwaysmedicineImage Processing Computer-AssistedHumansMuscle SkeletalAgedEssential tremorResting state fMRImedicine.diagnostic_testbusiness.industryElectromyographyMotor CortexElectroencephalographyParkinson DiseaseMiddle Agedmedicine.diseaseMagnetic Resonance Imagingnervous system diseases030104 developmental biologymedicine.anatomical_structureNonlinear DynamicsCerebral cortexCase-Control StudiesFemaleNeurology (clinical)businessNeuroscience030217 neurology & neurosurgeryBrain : a journal of neurology
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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

2020

International audience; KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/di-methylation (H3K9me3/2)-modified histones. H3K9 tri/di-demethylation is an important epigenetic mechanism responsible for silencing of gene expression in animal development and cancer. However, the role of KDM4B on human development is still poorly characterized. Through international data sharing, we gathered a cohort of nine individuals with mono-allelic de novo or inherited variants in KDM4B. All individuals presented with dysmorphic features and global developmental delay (GDD) with language and motor skills most affected. Three individuals had a history of seizures, and four had a…

0301 basic medicineMaleJumonji Domain-Containing Histone Demethylases[SDV]Life Sciences [q-bio]Developmental DisabilitiesCorpus callosumHippocampusEpigenesis GeneticHistonesMice0302 clinical medicineNeurodevelopmental disorderPolymicrogyriaGlobal developmental delayAgenesis of the corpus callosumGenetics (clinical)BrainMagnetic Resonance Imaging[SDV] Life Sciences [q-bio]intellectual disabilityBrain sizeFemaledysmorphic hippocampiSignal TransductionHeterozygoteheterozygous variantglobal developmental delayBiologyNervous System MalformationsMethylation03 medical and health sciencesSeizuresReportKDM4BGeneticsmedicineAnimalsHumansneurodevelopmental disorder.Dentate gyrusGenetic VariationJMJD2Bmedicine.diseaseneurodevelopmental disorder030104 developmental biologyagenesis of the corpus callosumNeuroscienceProtein Processing Post-Translational030217 neurology & neurosurgeryVentriculomegalyAmerican journal of human genetics
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Cannabinoid CB1 receptors in distinct circuits of the extended amygdala determine fear responsiveness to unpredictable threat.

2016

The brain circuits underlying behavioral fear have been extensively studied over the last decades. Although the vast majority of experimental studies assess fear as a transient state of apprehension in response to a discrete threat, such phasic states of fear can shift to a sustained anxious apprehension, particularly in face of diffuse cues with unpredictable environmental contingencies. Unpredictability, in turn, is considered an important variable contributing to anxiety disorders. The networks of the extended amygdala have been suggested keys to the control of phasic and sustained states of fear, although the underlying synaptic pathways and mechanisms remain poorly understood. Here, we…

0301 basic medicineMaleReflex StartleAnxietyAmygdalaDevelopmental psychology03 medical and health sciencesCellular and Molecular NeuroscienceMice0302 clinical medicineExtended amygdalaReceptor Cannabinoid CB1medicineAnimalsMolecular BiologyFear processing in the brainCannabinoidsFearmedicine.diseaseAmygdalaEndocannabinoid systemAnxiety DisordersPsychiatry and Mental healthStria terminalis030104 developmental biologymedicine.anatomical_structureSchizophreniaBehavioral medicineAnxietySeptal Nucleimedicine.symptomCuesPsychologyNeuroscience030217 neurology & neurosurgeryEndocannabinoidsMolecular psychiatry
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Effect of counting chamber depth on the accuracy of lensless microscopy for the assessment of boar sperm motility.

2017

Sperm motility is one of the most significant parameters in the prediction of male fertility. Until now, both motility analysis using an optical microscope and computer-aided sperm analysis (CASA-Mot) entailed the use of counting chambers with a depth to 20 µm. Chamber depth significantly affects the intrinsic sperm movement, leading to an artificial motility pattern. For the first time, laser microscopy offers the possibility of avoiding this interference with sperm movement. The aims of the present study were to determine the different motility patterns observed in chambers with depths of 10, 20 and 100 µm using a new holographic approach and to compare the results obtained in the 20-µm c…

0301 basic medicineMaleSwineMotilityBeat (acoustics)Reproductive technologyKinematicsBiologylaw.invention03 medical and health sciences0302 clinical medicineEndocrinologyOptical microscopelawMicroscopyGeneticsImage Processing Computer-AssistedAnimalsMolecular BiologySperm motilityMicroscopy030219 obstetrics & reproductive medicineSperm CountSpermSpermatozoaSemen Analysis030104 developmental biologyReproductive MedicineSperm MotilityAnimal Science and ZoologyDevelopmental BiologyBiotechnologyBiomedical engineeringReproduction, fertility, and development
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Effect of different oxidative stress degrees generated by hydrogen peroxide on motility and DNA fragmentation of zebrafish (Danio rerio) spermatozoa.

2018

An increase in reactive oxygen species (ROS) or decrease in antioxidant barriers can provoke lipid peroxidation of the membranes or DNA damage of the spermatozoa. The aim of this work is to study the effect of the different degrees of oxidative stress generated by H2 O2 incubation on total motility, kinetics, and DNA fragmentation of zebrafish (Danio rerio) spermatozoa. For this process, experimental groups were incubated in 50 µM (Low; L) and 200 µM (High; H) H2 O2 , respectively, for 20 min at 4oC. Sperm motility parameters were obtained with a computer-assisted sperm analysis (CASA) system. Sperm DNA fragmentation (SDF) was assessed using the sperm chromatin dispersion test. Both low and…

0301 basic medicineMaleendocrine systemDNA damageMotilitymedicine.disease_causeAndrologyLipid peroxidation03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologymedicineImage Processing Computer-AssistedAnimalsSperm motilityZebrafishchemistry.chemical_classificationReactive oxygen species030219 obstetrics & reproductive medicineurogenital systemHydrogen PeroxideSpermSpermatozoaOxidative Stress030104 developmental biologychemistrySperm MotilityDNA fragmentationAnimal Science and ZoologyOxidative stressBiotechnologyDNA DamageReproduction in domestic animals = Zuchthygiene
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Comparison of sperm motility subpopulation structure among wild anadromous and farmed male Atlantic salmon (Salmo salar) parr using a CASA system.

2017

Atlantic salmon (Salmo salar) is an endangered freshwater species that needs help to recover its wild stocks. However, the priority in aquaculture is to obtain successful fertilisation and genetic variability to secure the revival of the species. The aims of the present work were to study sperm subpopulation structure and motility patterns in wild anadromous males and farmed male Atlantic salmon parr. Salmon sperm samples were collected from wild anadromous salmon (WS) and two generations of farmed parr males. Sperm samples were collected from sexually mature males and sperm motility was analysed at different times after activation (5 and 35 s). Differences among the three groups were anal…

0301 basic medicineMaleendocrine systemanimal diseasesSalmo salarZoologyAnimals WildReproductive technology03 medical and health sciences0302 clinical medicineEndocrinologyAquacultureGeneticsImage Processing Computer-AssistedAnimals14. Life underwaterSalmoMolecular BiologySperm competitionreproductive and urinary physiologyFertilisationSperm motilityFish migration030219 obstetrics & reproductive medicinebiologyurogenital systembusiness.industrybiology.organism_classificationSpermSpermatozoaSemen Analysis030104 developmental biologyReproductive MedicineAnimals DomesticSperm MotilityAnimal Science and ZoologybusinessDevelopmental BiologyBiotechnologyReproduction, fertility, and development
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Endothelial GLP-1 (Glucagon-Like Peptide 1) Receptor Mediates Cardiovascular Protection by Liraglutide In Mice With Experimental Arterial Hypertension

2019

Supplemental Digital Content is available in the text.

0301 basic medicineMalemedicine.medical_specialtyhypertensionBlotting WesternInflammationBlood Pressure030204 cardiovascular system & hematologyangiotensin IImedicine.disease_causeGlucagon-Like Peptide-1 Receptor1005403 medical and health sciencesMice0302 clinical medicine10030Internal medicinemedicineoxidative stressAnimalsHypoglycemic AgentsReceptor10111Cells CulturedMice KnockoutliraglutideLiraglutidebusiness.industryBasic SciencesType 2 Diabetes MellitusEndothelial CellsAtherosclerosisGlucagon-like peptide-1Angiotensin II3. Good healthMice Inbred C57BLDisease Models Animal030104 developmental biologyEndocrinology10040inflammationComputingMethodologies_DOCUMENTANDTEXTPROCESSINGRNAmedicine.symptomCardiology and Cardiovascular Medicinebusiness10024Oxidative stressmedicine.drug
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