Institution
University of Exeter
Education•Exeter, United Kingdom•
About: University of Exeter is a education organization based out in Exeter, United Kingdom. It is known for research contribution in the topics: Population & Context (language use). The organization has 15820 authors who have published 50650 publications receiving 1793046 citations. The organization is also known as: Exeter University & University of the South West of England.
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TL;DR: Disparity between estimates of the association between plasma CRP and phenotypes comprising the metabolic syndrome derived from conventional analyses and those from a mendelian randomisation approach suggests that there is no causal association betweenCRP and the metabolic Syndrome phenotypes.
335 citations
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TL;DR: In the present review, the distribution, biosynthesis, biological significance and potential applications of phytoecdysteroids are summarized.
335 citations
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Radboud University Nijmegen Medical Centre1, University of Paris2, University of Lausanne3, University College London4, University of Toronto5, Heidelberg University6, University of British Columbia7, Newcastle University8, University of Giessen9, University of Strasbourg10, Erasmus University Rotterdam11, University of Duisburg-Essen12, University College Dublin13, University of Groningen14, University of Oslo15, University of Leeds16, University of Exeter17, University of Brighton18, Humboldt University of Berlin19
TL;DR: It is demonstrated that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.
Abstract: Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. Type of mutation was related to the severity of mental retardation and the presence of complex movement disorders. Cerebrospinal fluid : blood glucose ratio was related to type of mutation and phenotype. In conclusion, a substantial number of the patients with glucose transporter-1 deficiency syndrome do not have epilepsy. Our study demonstrates that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.
334 citations
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TL;DR: Of the silver particles tested, N( 10) were found to be the most highly concentrated within gill tissues and N(10) and N (Bulk) were the mosthighly concentrated in liver.
334 citations
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TL;DR: In this article, the dependence of the properties on the molecular anisotropy defined by the reduced distance l*=l/σ between the centres in the range 0·5−0·8 was investigated.
Abstract: Molecular dynamics calculations have been carried out for model liquid systems of N (=108 or 256) molecules interacting through two Lennard-Jones (12–6) centres coinciding with the positions of the atomic masses (the ‘atom-atom’ pair potential). The objectives were (a) to study the dependence of the properties on the molecular anisotropy defined by the reduced distance l*=l/σ between the centres in the range 0·5–0·8; and (b) to compare the computed quantities with those of real liquids (F2, Cl2, Br2, CO2). This paper deals with thermodynamic and structural features. Time-dependent correlations will be treated in a future communication. In the liquid region not too far from the triple point the energy and pressure isochores are well represented by straight lines, the slopes of which increase with density and anisotropy. Thermodynamically consistent expressions for the energy and pressure as functions of density and temperature have been obtained for each system. With Lennard-Jones parameters adjusted so as...
334 citations
Authors
Showing all 16338 results
Name | H-index | Papers | Citations |
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Frank B. Hu | 250 | 1675 | 253464 |
John C. Morris | 183 | 1441 | 168413 |
David W. Johnson | 160 | 2714 | 140778 |
Kevin J. Gaston | 150 | 750 | 85635 |
Andrew T. Hattersley | 146 | 768 | 106949 |
Timothy M. Frayling | 133 | 500 | 100344 |
Joel N. Hirschhorn | 133 | 431 | 101061 |
Jonathan D. G. Jones | 129 | 417 | 80908 |
Graeme I. Bell | 127 | 531 | 61011 |
Mark D. Griffiths | 124 | 1238 | 61335 |
Tao Zhang | 123 | 2772 | 83866 |
Brinick Simmons | 122 | 691 | 69350 |
Edzard Ernst | 120 | 1326 | 55266 |
Michael Stumvoll | 119 | 655 | 69891 |
Peter McGuffin | 117 | 624 | 62968 |