Institution
University of Antwerp
Education•Antwerp, Belgium•
About: University of Antwerp is a education organization based out in Antwerp, Belgium. It is known for research contribution in the topics: Population & Context (language use). The organization has 16682 authors who have published 48837 publications receiving 1689748 citations. The organization is also known as: Universiteit Antwerpen & UAntwerp.
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TL;DR: Two heterozygous insertion mutations in exon 1 of TNFRSF11A in affected members of four families with FEO or familial Paget disease of bone caused an increase in RANK-mediated nuclear factor-κB signalling in vitro, consistent with the presence of an activating mutation.
Abstract: Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder characterized by focal areas of increased bone remodelling. The osteolytic lesions, which develop usually in the long bones during early adulthood, show increased osteoblast and osteoclast activity. Our previous linkage studies mapped the gene responsible for FEO to an interval of less than 5 cM between D18S64 and D18S51 on chromosome 18q21.2-21.3 in a large Northern Irish family. The gene encoding receptor activator of nuclear factor-kappa B (RANK; ref. 5), TNFRSF11A, maps to this region. RANK is essential in osteoclast formation. We identified two heterozygous insertion mutations in exon 1 of TNFRSF11A in affected members of four families with FEO or familial Paget disease of bone (PDB). One was a duplication of 18 bases and the other a duplication of 27 bases, both of which affected the signal peptide region of the RANK molecule. Expression of recombinant forms of the mutant RANK proteins revealed perturbations in expression levels and lack of normal cleavage of the signal peptide. Both mutations caused an increase in RANK-mediated nuclear factor-kappaB (NF-kappaB) signalling in vitro, consistent with the presence of an activating mutation.
470 citations
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TL;DR: In this paper, a wide variety of surfactants for their efficiency in dissolving isolated single-walled carbon nanotubes (SWNTs) in water was investigated.
Abstract: We have investigated a wide variety of surfactants for their efficiency in dissolving isolated single-walled carbon nanotubes (SWNTs) in water. In doing so, we have completely avoided the harsh chemical or mechanical conditions, such as acid or ultrasonic treatments, that are known to damage SWNTs. Bile salts in particular are found to be exceptionally effective in dissolving individual tubes, as evidenced by highly resolved optical absorption spectra, bright bandgap fluorescence, and the unprecedented resolution (∼ 2.5 cm - 1 ) of the radial breathing modes in Raman spectra. This is attributed to the formation of very regular and stable micelles around the nanotubes providing an unusually homogeneous environment. Quantitative information concerning the degree of solubilization is obtained from absorption spectroscopy.
469 citations
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TL;DR: CSF levels are significantly increased in Alzheimer's disease and a large group of patients with a diversity of neurological diseases showed overlap with CSF levels in Alzheimer’s disease.
Abstract: Alzheimer's disease is a progressive degenerative dementia characterized by the abundant presence of neurofibrillary tangles in neurons. This study was designed to test whether the microtubule-associated protein tau, a major component of neurofibrillary tangles, could be detected in CSF. Additionally, we investigated whether CSF tau levels were abnormal in Alzheimer's disease as compared with a large group of control patients. We developed a sensitive sandwich enzyme-linked immunosorbent assay using AT120, a monoclonal antibody directed to human tau, as a capturing antibody. With this technique, the detection limit for tau was less than 5 pg/ml of CSF. Using AT8, which recognizes abnormally phosphorylated serines 199-202 in tau, the detection limit was below 20 pg/ml of CSF. However, with AT8, we found no immunoreactivity in CSF, suggesting that only a small fraction of CSF tau contains the abnormally phosphorylated AT8 epitope. Our results indicate that CSF tau levels are significantly increased in Alzheimer's disease. Also, CSF tau levels in a large group of patients with a diversity of neurological diseases showed overlap with CSF tau levels in Alzheimer's disease.
468 citations
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Imperial College London1, University Hospital of Lausanne2, Swiss Institute of Bioinformatics3, Ludwig Institute for Cancer Research4, University of Lausanne5, École Polytechnique Fédérale de Lausanne6, Pasteur Institute7, Harvard University8, French Institute of Health and Medical Research9, Nancy-Université10, Boston Children's Hospital11, University of Cambridge12, University Medical Center Utrecht13, Necker-Enfants Malades Hospital14, University of Antwerp15, university of lille16, McGill University17, GlaxoSmithKline18, University of Tartu19, Estonian Biocentre20, University of Oulu21, Wellcome Trust Centre for Human Genetics22, University of Oxford23, Massachusetts Institute of Technology24, Wellcome Trust Sanger Institute25
TL;DR: A highly penetrant form of obesity is reported, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits, which highlights a promising strategy for identifying missing heritability in obesity and other complex traits.
Abstract: Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here we report a highly penetrant form of obesity, initially observed in 31 subjects who were heterozygous for deletions of at least 593 kilobases at 16p11.2 and whose ascertainment included cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16,053 individuals from eight European cohorts. These deletions were absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (body mass index (BMI) >or= 40 kg m(-2) or BMI standard deviation score >or= 4; P = 6.4 x 10(-8), odds ratio 43.0), demonstrating the potential importance in common disease of rare variants with strong effects. This highlights a promising strategy for identifying missing heritability in obesity and other complex traits: cohorts with extreme phenotypes are likely to be enriched for rare variants, thereby improving power for their discovery. Subsequent analysis of the loci so identified may well reveal additional rare variants that further contribute to the missing heritability, as recently reported for SIM1 (ref. 3). The most productive approach may therefore be to combine the 'power of the extreme' in small, well-phenotyped cohorts, with targeted follow-up in case-control and population cohorts.
468 citations
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TL;DR: In this article, the population of 47 compact binary mergers detected with a false-alarm rate of 0.614 were dynamically assembled, and the authors found that the BBH rate likely increases with redshift, but not faster than the star formation rate.
Abstract: We report on the population of 47 compact binary mergers detected with a false-alarm rate of 0.01 are dynamically assembled. Third, we estimate merger rates, finding RBBH = 23.9-+8.614.3 Gpc-3 yr-1 for BBHs and RBNS = 320-+240490 Gpc-3 yr-1 for binary neutron stars. We find that the BBH rate likely increases with redshift (85% credibility) but not faster than the star formation rate (86% credibility). Additionally, we examine recent exceptional events in the context of our population models, finding that the asymmetric masses of GW190412 and the high component masses of GW190521 are consistent with our models, but the low secondary mass of GW190814 makes it an outlier.
468 citations
Authors
Showing all 16957 results
Name | H-index | Papers | Citations |
---|---|---|---|
Cornelia M. van Duijn | 183 | 1030 | 146009 |
John Hardy | 177 | 1178 | 171694 |
Mark Gerstein | 168 | 751 | 149578 |
Hannes Jung | 159 | 2069 | 125069 |
Rui Zhang | 151 | 2625 | 107917 |
Dirk Inzé | 149 | 647 | 74468 |
Walter Paulus | 149 | 809 | 86252 |
Robin Erbacher | 138 | 1721 | 100252 |
Rupert Leitner | 136 | 1201 | 90597 |
Alison Goate | 136 | 721 | 85846 |
Andrea Giammanco | 135 | 1362 | 98093 |
Maria Spiropulu | 135 | 1455 | 96674 |
Peter Robmann | 135 | 1438 | 97569 |
Michael Tytgat | 134 | 1449 | 94133 |
Matthew Herndon | 133 | 1732 | 97466 |