Search results for "Transfer RNA Aminoacylation"

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

2019

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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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Diastolic left ventricular function in relation to circulating metabolic biomarkers in a population study

2019

AimsWe studied the association of circulating metabolic biomarkers with asymptomatic left ventricular diastolic dysfunction, a risk-carrying condition that affects 25% of the population.Methods and resultsIn 570 randomly recruited people, we assessed in 2005–2010 and in 2009–2013 the multivariable-adjusted correlations of e’ (early left ventricular relaxation) and E/e’ (left ventricular filling pressure) measured by Doppler echocardiography with 43 serum metabolites, quantified by magnetic resonance spectroscopy. In 2009–2013, e’ cross-sectionally increased (Bonferroni corrected p ≤ 0.016) with the branched-chain amino acid valine (per one standard deviation increment, +0.274 cm/s (95% conf…

MaleCardiac & Cardiovascular SystemsMagnetic Resonance SpectroscopyTime FactorsEpidemiology030204 cardiovascular system & hematologyVentricular Function LeftVentricular Dysfunction Left0302 clinical medicineBelgiumpopulation scienceDiastole030212 general & internal medicinebranched-chain amino acidsMetabolic biomarkersVentricular functionIncidenceMiddle AgedRNA Transfer Amino Acid-SpecificPrognosismetabolomicsEchocardiography DopplerGLUTAMINECardiologyPopulation studyHEART-FAILUREFemalemedicine.symptomCardiology and Cardiovascular MedicineLife Sciences & BiomedicineAdultmedicine.medical_specialtyDiastoleAsymptomatic03 medical and health sciencesPredictive Value of TestsInternal medicineATRIALmedicineHumansAgedScience & Technologybusiness.industryBiomarkerDYSFUNCTIONBiomarker (cell)diastolic left ventricular dysfunctionAsymptomatic DiseasesCardiovascular System & CardiologyLeft ventricular diastolic dysfunctionTransfer RNA AminoacylationbusinessAmino Acids Branched-ChainBiomarkers
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