Institution
Radboud University Nijmegen
Education•Nijmegen, Gelderland, Netherlands•
About: Radboud University Nijmegen is a education organization based out in Nijmegen, Gelderland, Netherlands. It is known for research contribution in the topics: Population & Context (language use). The organization has 35417 authors who have published 83035 publications receiving 3285064 citations. The organization is also known as: Catholic University of Nijmegen & Radboud University.
Papers published on a yearly basis
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University of Groningen1, Columbia University2, University of Washington3, Leiden University4, University of Amsterdam5, Erasmus University Rotterdam6, Max Planck Society7, Utrecht University8, Centrum Wiskunde & Informatica9, Radboud University Nijmegen10, Massachusetts Institute of Technology11, Harvard University12, Pfizer13, Beijing Institute of Genomics14, University of Copenhagen15
TL;DR: The Genome of the Netherlands (GoNL) Project is described, in which the whole genomes of 250 Dutch parent-offspring families were sequenced and a haplotype map of 20.4 million single-nucleotide variants and 1.2 million insertions and deletions were constructed.
Abstract: Whole-genome sequencing enables complete characterization of genetic variation, but geographic clustering of rare alleles demands many diverse populations be studied. Here we describe the Genome of the Netherlands (GoNL) Project, in which we sequenced the whole genomes of 250 Dutch parent-offspring families and constructed a haplotype map of 20.4 million single-nucleotide variants and 1.2 million insertions and deletions. The intermediate coverage (∼13×) and trio design enabled extensive characterization of structural variation, including midsize events (30-500 bp) previously poorly catalogued and de novo mutations. We demonstrate that the quality of the haplotypes boosts imputation accuracy in independent samples, especially for lower frequency alleles. Population genetic analyses demonstrate fine-scale structure across the country and support multiple ancient migrations, consistent with historical changes in sea level and flooding. The GoNL Project illustrates how single-population whole-genome sequencing can provide detailed characterization of genetic variation and may guide the design of future population studies.
677 citations
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University of Duisburg-Essen1, University of Düsseldorf2, Harvard University3, University of Warsaw4, University of Melbourne5, St. Vincent's Institute of Medical Research6, Johns Hopkins University7, Swiss Institute of Bioinformatics8, Western General Hospital9, The Turing Institute10, University of British Columbia11, BC Cancer Agency12, ETH Zurich13, Leiden University Medical Center14, Delft University of Technology15, Broad Institute16, Georgia State University17, Karlsruhe Institute of Technology18, Heidelberg Institute for Theoretical Studies19, Centrum Wiskunde & Informatica20, Utrecht University21, University of Amsterdam22, Imperial College London23, Radboud University Nijmegen24, University Medical Center Groningen25, Wageningen University and Research Centre26, University of Connecticut27, European Bioinformatics Institute28, Wellcome Trust Sanger Institute29, University of Cambridge30, Max Planck Society31, Saarland University32, Zuse Institute Berlin33, German Cancer Research Center34, Leiden University35, I.M. Sechenov First Moscow State Medical University36, Princeton University37, Memorial Sloan Kettering Cancer Center38
TL;DR: This compendium is for established researchers, newcomers, and students alike, highlighting interesting and rewarding problems for the coming years in single-cell data science.
Abstract: The recent boom in microfluidics and combinatorial indexing strategies, combined with low sequencing costs, has empowered single-cell sequencing technology. Thousands-or even millions-of cells analyzed in a single experiment amount to a data revolution in single-cell biology and pose unique data science problems. Here, we outline eleven challenges that will be central to bringing this emerging field of single-cell data science forward. For each challenge, we highlight motivating research questions, review prior work, and formulate open problems. This compendium is for established researchers, newcomers, and students alike, highlighting interesting and rewarding problems for the coming years.
677 citations
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TL;DR: Evidence for the involvement of IL‐1β and the clinical results of reducing IL‐ 1β activity in this broad spectrum of inflammatory diseases are the focus of this review.
Abstract: An expanding spectrum of acute and chronic non-infectious inflammatory diseases is uniquely responsive to IL-1β neutralization. IL-1β-mediated diseases are often called "auto-inflammatory" and the dominant finding is the release of the active form of IL-1β driven by endogenous molecules acting on the monocyte/macrophage. IL-1β activity is tightly controlled and requires the conversion of the primary transcript, the inactive IL-1β precursor, to the active cytokine by limited proteolysis. Limited proteolysis can take place extracellularly by serine proteases, released in particular by infiltrating neutrophils or intracellularly by the cysteine protease caspase-1. Therefore, blocking IL-1β resolves inflammation regardless of how the cytokine is released from the cell or how the precursor is cleaved. Endogenous stimulants such as oxidized fatty acids and lipoproteins, high glucose concentrations, uric acid crystals, activated complement, contents of necrotic cells, and cytokines, particularly IL-1 itself, induce the synthesis of the inactive IL-1β precursor, which awaits processing to the active form. Although bursts of IL-1β precipitate acute attacks of systemic or local inflammation, IL-1β also contributes to several chronic diseases. For example, ischemic injury, such as myocardial infarction or stroke, causes acute and extensive damage, and slowly progressive inflammatory processes take place in atherosclerosis, type 2 diabetes, osteoarthritis and smoldering myeloma. Evidence for the involvement of IL-1β and the clinical results of reducing IL-1β activity in this broad spectrum of inflammatory diseases are the focus of this review.
676 citations
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TL;DR: Findings show independent cumulative effects of both the JD-C Model and the ERI Model on employee well-being are not significantly different in men and women as well as in young and old people.
674 citations
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TL;DR: It is concluded that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease, however, a frequent homozygous mutation in the MTHFR gene is associated with a threefold increase in risk for prematurely cardiovascular disease.
Abstract: Mild hyperhomocysteinemia is an established risk factor for cardiovascular disease. Genetic aberrations in the cystathionine beta-synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) genes may account for reduced enzyme activities and elevated plasma homocysteine levels. In 15 unrelated Dutch patients with homozygous CBS deficiency, we observed the 833T-->C (I278T) mutation in 50% of the alleles. Very recently, we identified a common mutation (677C-->T; A-->V) in the MTHFR gene, which, in homozygous state, is responsible for the thermolabile phenotype and which is associated with decreased specific MTHRF activity and elevated homocysteine levels. We screened 60 cardiovascular patients and 111 controls for these two mutations, to determine whether these mutations are risk factors for premature cardiovascular disease. Heterozygosity for the 833T-->C mutation in the CBS gene was observed in one individual of the control group but was absent in patients with premature cardiovascular disease. Homozygosity for the 677C-->T mutation in the MTHFR gene was found in (15%) of 60 cardiovascular patients and in only 6 (approximately 5%) of 111 control individuals (odds ratio 3.1 [95% confidence interval 1.0-9.2]). Because of both the high prevalence of the 833T-->C mutation among homozygotes for CBS deficiency and its absence in 60 cardiovascular patients, we may conclude that heterozygosity for CBS deficiency does not appear to be involved in premature cardiovascular disease. However, a frequent homozygous mutation in the MTHFR gene is associated with a threefold increase in risk for premature cardiovascular disease.
672 citations
Authors
Showing all 35749 results
Name | H-index | Papers | Citations |
---|---|---|---|
Charles A. Dinarello | 190 | 1058 | 139668 |
Richard H. Friend | 169 | 1182 | 140032 |
Yang Gao | 168 | 2047 | 146301 |
Ian J. Deary | 166 | 1795 | 114161 |
David T. Felson | 153 | 861 | 133514 |
Margaret A. Pericak-Vance | 149 | 826 | 118672 |
Fernando Rivadeneira | 146 | 628 | 86582 |
Shah Ebrahim | 146 | 733 | 96807 |
Mihai G. Netea | 142 | 1170 | 86908 |
Mingshui Chen | 141 | 1543 | 125369 |
George Alverson | 140 | 1653 | 105074 |
Barry Blumenfeld | 140 | 1909 | 105694 |
Harvey B Newman | 139 | 1594 | 88308 |
Tariq Aziz | 138 | 1646 | 96586 |
Stylianos E. Antonarakis | 138 | 746 | 93605 |