Search Results - "Prokop, W"
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Occupancy maps of 208 chromatin-associated proteins in one human cell type
Published in Nature (London) (30-07-2020)“…Transcription factors are DNA-binding proteins that have key roles in gene regulation 1 , 2 . Genome-wide occupancy maps of transcriptional regulators are…”
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2
Performance of single-use syringe versus multi-use MR contrast injectors: a prospective comparative study
Published in Scientific reports (03-03-2020)“…The goal of this study was to compare performance parameters of a single-use syringe and a multi-use MR contrast injector. We compared preparation time, cost…”
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3
Genome sequencing in the clinic: the past, present, and future of genomic medicine
Published in Physiological genomics (01-08-2018)“…Genomic sequencing has undergone massive expansion in the past 10 yr, from a rarely used research tool into an approach that has broad applications in a…”
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4
Discovery of the elusive leptin in birds: identification of several 'missing links' in the evolution of leptin and its receptor
Published in PloS one (24-03-2014)“…Leptin is a pleiotropic protein best known for regulation of appetite and fat storage in mammals. While many leptin orthologs have been identified among…”
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5
Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report
Published in BMC pediatrics (02-01-2023)“…Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified,…”
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6
Differences in the Phosphorylation-Dependent Regulation of Prenylation of Rap1A and Rap1B
Published in Journal of molecular biology (04-12-2016)“…Two isoforms of the small GTPase Rap1, Rap1A and Rap1B, participate in cell adhesion; Rap1A promotes steady state adhesion, while Rap1B regulates dynamic…”
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7
Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease
Published in eLife (20-07-2021)“…Polyamine levels are intricately controlled by biosynthetic, catabolic enzymes and antizymes. The complexity suggests that minute alterations in levels lead to…”
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8
High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals
Published in Frontiers in immunology (16-07-2021)“…The immune response to COVID-19 infection is variable. How COVID-19 influences clinical outcomes in hospitalized patients needs to be understood through…”
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9
PEA15 loss of function and defective cerebral development in the domestic cat
Published in PLoS genetics (01-12-2020)“…Cerebral cortical size and organization are critical features of neurodevelopment and human evolution, for which genetic investigation in model organisms can…”
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10
Sept8/SEPTIN8 involvement in cellular structure and kidney damage is identified by genetic mapping and a novel human tubule hypoxic model
Published in Scientific reports (22-01-2021)“…Chronic kidney disease (CKD), which can ultimately progress to kidney failure, is influenced by genetics and the environment. Genes identified in human genome…”
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11
Pricing and cost-saving potential for deep-learning computer-aided lung nodule detection software in CT lung cancer screening
Published in Insights into imaging (27-11-2023)“…Objective An increasing number of commercial deep learning computer-aided detection (DL-CAD) systems are available but their cost-saving potential is largely…”
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12
ProPSA and the Prostate Health Index as predictive markers for aggressiveness in low-risk prostate cancer—results from an international multicenter study
Published in Prostate cancer and prostatic diseases (01-09-2017)“…Background: One of the major challenges in prostate cancer (PCa) treatment is distinguishing insignificant PCa from those forms that need active treatment. We…”
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13
Pediatric Multi-Organ Dysfunction Syndrome: Analysis by an Untargeted "Shotgun" Lipidomic Approach Reveals Low-Abundance Plasma Phospholipids and Dynamic Recovery over 8-Day Period, a Single-Center Observational Study
Published in Nutrients (27-02-2021)“…Lipids are molecules involved in metabolism and inflammation. This study investigates the plasma lipidome for markers of severity and nutritional status in…”
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14
CCR5 and Biological Complexity: The Need for Data Integration and Educational Materials to Address Genetic/Biological Reductionism at the Interface of Ethical, Legal, and Social Implications
Published in Frontiers in immunology (02-12-2021)“…In the age of genomics, public understanding of complex scientific knowledge is critical. To combat reductionistic views, it is necessary to generate and…”
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15
Structure-Function of the Human WAC Protein in GABAergic Neurons: Towards an Understanding of Autosomal Dominant DeSanto-Shinawi Syndrome
Published in Biology (Basel, Switzerland) (01-04-2023)“…Dysfunction of the WW domain-containing adaptor with coiled-coil, , gene underlies a rare autosomal dominant disorder, DeSanto-Shinawi syndrome (DESSH). DESSH…”
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16
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics
Published in Biomolecules (Basel, Switzerland) (30-01-2023)“…Insulin is amongst the human genome's most well-studied genes/proteins due to its connection to metabolic health. Within this article, we review literature and…”
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Gene expression signatures identify paediatric patients with multiple organ dysfunction who require advanced life support in the intensive care unit
Published in EBioMedicine (01-12-2020)“…Multiple organ dysfunction syndrome (MODS) occurs in the setting of a variety of pathologies including infection and trauma. Some patients decompensate and…”
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18
Methylation specific targeting of a chromatin remodeling complex from sponges to humans
Published in Scientific reports (17-01-2017)“…DNA cytosine methylation and methyl-cytosine binding domain (MBD) containing proteins are found throughout all vertebrate species studied to date. However,…”
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19
Familial hypercholesterolaemia in patients with ischaemic stroke or transient ischaemic attack
Published in European journal of neurology (01-02-2018)“…Background and purpose Identification of patients with familial hypercholesterolaemia (FH) is a prerequisite for the appropriate management of their excess…”
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20
Beyond thermoregulation: metabolic function of cetacean blubber in migrating bowhead and beluga whales
Published in Journal of comparative physiology. B, Biochemical, systemic, and environmental physiology (01-01-2017)“…The processes of lipid deposition and utilization, via the gene leptin ( Lep ), are poorly understood in taxa with varying degrees of adipose storage. This…”
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