Search Results - "Mans, A."
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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
Published in American journal of human genetics (04-09-2014)“…A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and…”
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Overexpression of Human Apolipoprotein A-I Preserves Cognitive Function and Attenuates Neuroinflammation and Cerebral Amyloid Angiopathy in a Mouse Model of Alzheimer Disease
Published in The Journal of biological chemistry (19-11-2010)“…To date there is no effective therapy for Alzheimer disease (AD). High levels of circulating high density lipoprotein (HDL) and its main protein,…”
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Characterization of the a-Si EPID in the unity MR-linac for dosimetric applications
Published in Physics in medicine & biology (09-01-2018)“…Electronic portal imaging devices (EPIDs) are frequently used in external beam radiation therapy for dose verification purposes. The aim of this study was to…”
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Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain
Published in PLoS genetics (01-12-2013)“…Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of…”
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Error detection during VMAT delivery using EPID-based 3D transit dosimetry
Published in Physica medica (01-10-2018)“…•EPID-based 3D transit dosimetry can pick up serious delivery errors.•A change in phantom thickness of 1 cm was detected for all cases.•Errors in setup and…”
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Automatic in vivo portal dosimetry of all treatments
Published in Physics in medicine & biology (21-11-2013)“…At our institution EPID (electronic portal imaging device) dosimetry is routinely applied to perform in vivo dose verification of all patient treatments with…”
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Catching errors with in vivo EPID dosimetry
Published in Medical physics (Lancaster) (01-06-2010)“…The potential for detrimental incidents and the ever increasing complexity of patient treatments emphasize the need for accurate dosimetric verification in…”
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Rapid Angiogenesis Onset after Discontinuation of Sunitinib Treatment of Renal Cell Carcinoma Patients
Published in Clinical cancer research (15-07-2012)“…To investigate the angiogenic changes in primary tumor tissue of renal cell carcinoma (RCC) patients treated with VEGF-targeted therapy. Phase II trials of…”
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Non-syndromic retinal ciliopathies: translating gene discovery into therapy
Published in Human molecular genetics (15-10-2012)“…Homozygosity mapping and exome sequencing have accelerated the discovery of gene mutations and modifier alleles implicated in inherited retinal degeneration in…”
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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
Published in Journal of medical genetics (01-06-2011)“…Sensenbrenner syndrome is a heterogeneous ciliopathy that is characterised by skeletal and ectodermal anomalies, accompanied by chronic renal failure, heart…”
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The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
Published in PLoS genetics (01-10-2015)“…Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of…”
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Published in American journal of human genetics (11-11-2011)“…A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan…”
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Possible Risk Factors and Their Potential Associations with Combined Heavy Metal Exposures in Pregnant Women in the Republic of Suriname
Published in Annals of global health (01-01-2024)“…The exposure of pregnant women to multiple environmental pollutants may be more disadvantageous to birth outcomes when compared to single-compound…”
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The tumor suppressor LKB1 regulates starvation-induced autophagy under systemic metabolic stress
Published in Scientific reports (04-08-2017)“…Autophagy is an evolutionarily conserved process that degrades cellular components to restore energy homeostasis under limited nutrient conditions. How this…”
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Simvastatin-mediated enhancement of long-term potentiation is driven by farnesyl-pyrophosphate depletion and inhibition of farnesylation
Published in Neuroscience (27-01-2012)“…Abstract Simvastatin (SV), a competitive inhibitor of 3-hydroxy-3-methylglutaryl CoA reductase and a widely prescribed treatment for hypercholesterolemia,…”
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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
Published in The Journal of clinical investigation (01-06-2011)“…The mutations that cause Leber congenital amaurosis (LCA) lead to photoreceptor cell death at an early age, causing childhood blindness. To unravel the…”
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Simvastatin enhances hippocampal long-term potentiation in C57BL/6 mice
Published in Neuroscience (17-03-2010)“…Abstract Statins inhibit 3-hydroxy-3-methylglutaryl CoA reductase, the rate-limiting enzyme in the cholesterol biosynthetic pathway, and they are widely used…”
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Elution Profile Analysis of SDS-induced Subcomplexes by Quantitative Mass Spectrometry
Published in Molecular & cellular proteomics (01-05-2014)“…Analyzing the molecular architecture of native multiprotein complexes via biochemical methods has so far been difficult and error prone. Protein complex…”
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A back-projection algorithm in the presence of an extra attenuating medium: towards EPID dosimetry for the MR-Linac
Published in Physics in medicine & biology (17-07-2017)“…In external beam radiotherapy, electronic portal imaging devices (EPIDs) are frequently used for pre-treatment and for in vivo dose verification. Currently,…”
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