Search Results - "Olthof, M."
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Minor intron splicing revisited: identification of new minor intron-containing genes and tissue-dependent retention and alternative splicing of minor introns
Published in BMC genomics (30-08-2019)“…Mutations in minor spliceosome components such as U12 snRNA (cerebellar ataxia) and U4atac snRNA (microcephalic osteodysplastic primordial dwarfism type 1…”
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The patient's view on rare disease trial design - a qualitative study
Published in Orphanet journal of rare diseases (07-02-2019)“…Clinical trials in rare diseases are more challenging than trials in frequent diseases. Small numbers of eligible trial participants, often complicated by…”
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Less meat in the shopping basket. The effect on meat purchases of higher prices, an information nudge and the combination: a randomised controlled trial
Published in BMC public health (07-06-2022)“…Reduced meat consumption benefits human and planetary health. Modelling studies have demonstrated the significant health and environmental gains that could be…”
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Introns: the "dark matter" of the eukaryotic genome
Published in Frontiers in genetics (16-05-2023)“…The emergence of introns was a significant evolutionary leap that is a major distinguishing feature between prokaryotic and eukaryotic genomes. While…”
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Minor spliceosome inactivation causes microcephaly, owing to cell cycle defects and death of self-amplifying radial glial cells
Published in Development (Cambridge) (28-08-2018)“…Mutation in minor spliceosome components is linked to the developmental disorder microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1). Here, we…”
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Multiple Nonauditory Cortical Regions Innervate the Auditory Midbrain
Published in The Journal of neuroscience (06-11-2019)“…Our perceptual experience of sound depends on the integration of multiple sensory and cognitive domains, however the networks subserving this integration are…”
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Taxonomy of introns and the evolution of minor introns
Published in Nucleic acids research (27-08-2024)“…Abstract Classification of introns, which is crucial to understanding their evolution and splicing, has historically been binary and has resulted in the naming…”
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Cost‐Effectiveness of Computer‐Assisted Cytology in a Primary hrHPV‐Based Cervical Cancer Screening Programme
Published in Cancer medicine (Malden, MA) (01-10-2024)“…ABSTRACT Background Computer‐assisted screening (CAS) shows equal performance compared to manual screening, although results are heterogeneous. Furthermore,…”
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Puncta of Neuronal Nitric Oxide Synthase (nNOS) Mediate NMDA Receptor Signaling in the Auditory Midbrain
Published in The Journal of neuroscience (30-01-2019)“…Nitric oxide (NO) is a neurotransmitter synthesized in the brain by neuronal nitric oxide synthase (nNOS). Using immunohistochemistry and confocal imaging in…”
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Prospective study on dietary intakes of folate, betaine, and choline and cardiovascular disease risk in women
Published in European journal of clinical nutrition (01-03-2008)“…Objective: To investigate the association between dietary intakes of folate, betaine and choline and the risk of cardiovascular disease (CVD). Design:…”
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Heritability of tic disorders: a twin-family study
Published in Psychological medicine (01-04-2017)“…Genetic-epidemiological studies that estimate the contributions of genetic factors to variation in tic symptoms are scarce. We estimated the extent to which…”
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Concurrent participation in breast, cervical, and colorectal cancer screening in the Netherlands
Published in European journal of cancer (1990) (01-11-2022)“…Many European countries offer organised population-based breast, cervical, and colorectal cancer screening programmes. Around age 55 and 60, Dutch women are…”
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Effects of betaine intake on plasma homocysteine concentrations and consequences for health
Published in Current drug metabolism (01-02-2005)“…High plasma concentrations of homocysteine may increase risk of cardiovascular disease. Folic acid lowers plasma homocysteine by 25% maximally, because…”
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A survey of substance use for cognitive enhancement by university students in the Netherlands
Published in Frontiers in systems neuroscience (17-02-2015)“…Pharmacological cognitive enhancement, using chemicals to change cellular processes in the brain in order to enhance one's cognitive capacities, is an often…”
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Prospective associations of age at complementary feeding and exclusive breastfeeding duration with body mass index at 5–6 years within different risk groups
Published in Pediatric obesity (01-08-2018)“…Summary Background Children with overweight or obesity are at risk for developing obesity in adulthood. Certain maternal characteristics, such as ethnicity,…”
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Disrupted minor intron splicing is prevalent in Mendelian disorders
Published in Molecular genetics & genomic medicine (01-09-2020)“…Background Splicing is crucial for proper gene expression, and is predominately executed by the major spliceosome. Conversely, 722 introns in 699 human minor…”
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Actual and perceived nursing workload and the complexity of patients with total hip arthroplasty
Published in Applied nursing research (01-02-2018)“…Little is known about the relation between patient complexity and nursing care of total hip arthroplasty (THA) patients. To improve patient care and hospital…”
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Bioavailabilities of quercetin-3-glucoside and quercetin-4'-glucoside do not differ in humans
Published in The Journal of nutrition (01-05-2000)“…The flavonoid quercetin is an antioxidant which occurs in foods mainly as glycosides. The sugar moiety in quercetin glycosides affects their bioavailability in…”
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Consumption of high doses of chlorogenic acid, present in coffee, or of black tea increases plasma total homocysteine concentrations in humans
Published in The American journal of clinical nutrition (01-03-2001)“…In population studies, high intakes of coffee are associated with raised concentrations of plasma homocysteine, a predictor of risk of cardiovascular disease…”
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