Institution
Utrecht University
Education•Utrecht, Utrecht, Netherlands•
About: Utrecht University is a education organization based out in Utrecht, Utrecht, Netherlands. It is known for research contribution in the topics: Population & Context (language use). The organization has 58176 authors who have published 139351 publications receiving 6214282 citations. The organization is also known as: UU & Universiteit Utrecht.
Papers published on a yearly basis
Papers
More filters
••
TL;DR: Prenatal nutritional deficiency may play a role in the origin of some cases of schizophrenia, and among all birth cohorts of 1944 through 1946, the risk for schizophrenia clearly peaked in this exposed cohort.
Abstract: Background: Suggestive findings of an earlier study that prenatal nutritional deficiency was a determinant of schizophrenia prompted us to undertake a second test of the hypothesis using more precise data on both exposure and outcome. Methods: Among persons born in the cities of western Netherlands during 1944 through 1946, we compared the risk for schizophrenia in those exposed and unexposed during early gestation to the Dutch Hunger Winter of 1944/1945. The frequency of hospitalized patients with schizophrenia at age 24 to 48 years in the exposed and unexposed birth cohorts was ascertained from a national psychiatric registry. Results: The most exposed birth cohort, conceived at the height of the famine, showed a twofold and statistically significant increase in the risk for schizophrenia (relative risk [RR] = 2.0; 95% confidence interval [CI] = 1.2 to 3.4;P Conclusion: Prenatal nutritional deficiency may play a role in the origin of some cases of schizophrenia.
708 citations
••
TL;DR: The first example of naturally occurring mutations in a mammalian DNA methyltransferase gene is described, occurring in patients with a rare autosomal recessive disorder, termed the ICF syndrome, for immunodeficiency, centromeric instability, and facial anomalies.
Abstract: DNA methylation is an important regulator of genetic information in species ranging from bacteria to humans. DNA methylation appears to be critical for mammalian development because mice nullizygous for a targeted disruption of the DNMT1 DNA methyltransferase die at an early embryonic stage. No DNA methyltransferase mutations have been reported in humans until now. We describe here the first example of naturally occurring mutations in a mammalian DNA methyltransferase gene. These mutations occur in patients with a rare autosomal recessive disorder, which is termed the ICF syndrome, for immunodeficiency, centromeric instability, and facial anomalies. Centromeric instability of chromosomes 1, 9, and 16 is associated with abnormal hypomethylation of CpG sites in their pericentromeric satellite regions. We are able to complement this hypomethylation defect by somatic cell fusion to Chinese hamster ovary cells, suggesting that the ICF gene is conserved in the hamster and promotes de novo methylation. ICF has been localized to a 9-centimorgan region of chromosome 20 by homozygosity mapping. By searching for homologies to known DNA methyltransferases, we identified a genomic sequence in the ICF region that contains the homologue of the mouse Dnmt3b methyltransferase gene. Using the human sequence to screen ICF kindreds, we discovered mutations in four patients from three families. Mutations include two missense substitutions and a 3-aa insertion resulting from the creation of a novel 3′ splice acceptor. None of the mutations were found in over 200 normal chromosomes. We conclude that mutations in the DNMT3B are responsible for the ICF syndrome.
707 citations
••
Princeton University1, Utrecht University2, Goethe University Frankfurt3, University of California, Irvine4, National Center for Atmospheric Research5, Delft University of Technology6, George Mason University7, University of Bonn8, McGill University9, University of Washington10, Goddard Space Flight Center11, University of Illinois at Urbana–Champaign12, University of Reading13, University of Oxford14
TL;DR: In this article, the authors discuss the needs and benefits for a system that would monitor and predict the Earth's terrestrial water, energy, and biogeochemical cycles, and they call upon the international hydrologic community and the hydrological science support infrastructure to endorse the effort.
Abstract: Monitoring Earth's terrestrial water conditions is critically important to many hydrological applications such as global food production; assessing water resources sustainability; and flood, drought, and climate change prediction. These needs have motivated the development of pilot monitoring and prediction systems for terrestrial hydrologic and vegetative states, but to date only at the rather coarse spatial resolutions (∼10–100 km) over continental to global domains. Adequately addressing critical water cycle science questions and applications requires systems that are implemented globally at much higher resolutions, on the order of 1 km, resolutions referred to as hyperresolution in the context of global land surface models. This opinion paper sets forth the needs and benefits for a system that would monitor and predict the Earth's terrestrial water, energy, and biogeochemical cycles. We discuss six major challenges in developing a system: improved representation of surface-subsurface interactions due to fine-scale topography and vegetation; improved representation of land-atmospheric interactions and resulting spatial information on soil moisture and evapotranspiration; inclusion of water quality as part of the biogeochemical cycle; representation of human impacts from water management; utilizing massively parallel computer systems and recent computational advances in solving hyperresolution models that will have up to 109 unknowns; and developing the required in situ and remote sensing global data sets. We deem the development of a global hyperresolution model for monitoring the terrestrial water, energy, and biogeochemical cycles a “grand challenge” to the community, and we call upon the international hydrologic community and the hydrological science support infrastructure to endorse the effort.
704 citations
••
European Bioinformatics Institute1, Wellcome Trust2, University of Manchester3, University of Cambridge4, Swiss Institute of Bioinformatics5, École Polytechnique Fédérale de Lausanne6, Institute for Systems Biology7, University College Dublin8, Utrecht University9, University of Vienna10, Max Planck Society11, New York University12, Amgen13, University of California, Los Angeles14, Applied Biosystems15, Semel Institute for Neuroscience and Human Behavior16, Flanders Institute for Biotechnology17, University of New South Wales18, Scripps Research Institute19
TL;DR: The processes and principles underpinning the development of guidance modules for reporting the use of techniques such as gel electrophoresis and mass spectrometry are described and the ramifications for various interest groups such as experimentalists, funders, publishers and the private sector are discussed.
Abstract: Both the generation and the analysis of proteomics data are now widespread, and high-throughput approaches are commonplace. Protocols continue to increase in complexity as methods and technologies evolve and diversify. To encourage the standardized collection, integration, storage and dissemination of proteomics data, the Human Proteome Organization's Proteomics Standards Initiative develops guidance modules for reporting the use of techniques such as gel electrophoresis and mass spectrometry. This paper describes the processes and principles underpinning the development of these modules; discusses the ramifications for various interest groups such as experimentalists, funders, publishers and the private sector; addresses the issue of overlap with other reporting guidelines; and highlights the criticality of appropriate tools and resources in enabling 'MIAPE-compliant' reporting.
703 citations
••
Cincinnati Children's Hospital Medical Center1, Istituto Giannina Gaslini2, Hoffmann-La Roche3, University of Toronto4, Great Ormond Street Hospital5, Katholieke Universiteit Leuven6, Universidade Federal do Rio Grande do Sul7, National Health Service8, National Autonomous University of Mexico9, Charles University in Prague10, Autonomous University of Madrid11, Ghent University12, Utrecht University13, University of Padua14
TL;DR: Tocilizumab was efficacious in severe, persistent systemic JIA and adverse events were common and included infection, neutropenia, and increased aminotransferase levels.
Abstract: Background Systemic juvenile idiopathic arthritis (JIA) is the most severe subtype of JIA; treatment options are limited. Interleukin-6 plays a pathogenic role in systemic JIA. Methods We randomly assigned 112 children, 2 to 17 years of age, with active systemic JIA (duration of ≥6 months and inadequate responses to nonsteroidal antiinflammatory drugs and glucocorticoids) to the anti–interleukin-6 receptor antibody tocilizumab (at a dose of 8 mg per kilogram of body weight if the weight was ≥30 kg or 12 mg per kilogram if the weight was <30 kg) or placebo given intravenously every 2 weeks during the 12-week, double-blind phase. Patients meeting the predefined criteria for nonresponse were offered open-label tocilizumab. All patients could enter an open-label extension. Results At week 12, the primary end point (an absence of fever and an improvement of 30% or more on at least three of the six variables in the American College of Rheumatology [ACR] core set for JIA, with no more than one variable worsening...
703 citations
Authors
Showing all 58756 results
Name | H-index | Papers | Citations |
---|---|---|---|
Ronald C. Kessler | 274 | 1332 | 328983 |
Albert Hofman | 267 | 2530 | 321405 |
Douglas G. Altman | 253 | 1001 | 680344 |
Hans Clevers | 199 | 793 | 169673 |
Craig B. Thompson | 195 | 557 | 173172 |
Patrick W. Serruys | 186 | 2427 | 173210 |
Ruedi Aebersold | 182 | 879 | 141881 |
Dennis S. Charney | 179 | 802 | 122408 |
Kenneth S. Kendler | 177 | 1327 | 142251 |
Jean Louis Vincent | 161 | 1667 | 163721 |
Vilmundur Gudnason | 159 | 837 | 123802 |
Monique M.B. Breteler | 159 | 546 | 93762 |
Lex M. Bouter | 158 | 767 | 103034 |
Elio Riboli | 158 | 1136 | 110499 |
Roy F. Baumeister | 157 | 650 | 132987 |