Institution
Imperial College London
Education•London, Westminster, United Kingdom•
About: Imperial College London is a education organization based out in London, Westminster, United Kingdom. It is known for research contribution in the topics: Population & Medicine. The organization has 90019 authors who have published 209164 publications receiving 9337534 citations. The organization is also known as: Imperial College of Science, Technology and Medicine & Imperial College.
Topics: Population, Medicine, Context (language use), Cancer, Computer science
Papers published on a yearly basis
Papers
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TL;DR: In this article, single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis.
Abstract: Single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene (SOD1) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS). Complete screening of the SOD1 coding region revealed that the mutation Ala4 to Val in exon 1 was the most frequent one; mutations were identified in exons 2, 4, and 5 but not in the active site region formed by exon 3. The 2.4 A crystal structure of human SOD, along with two other SOD structures, established that all 12 observed FALS mutant sites alter conserved interactions critical to the beta-barrel fold and dimer contact, rather than catalysis. Red cells from heterozygotes had less than 50 percent normal SOD activity, consistent with a structurally defective SOD dimer. Thus, defective SOD is linked to motor neuron death and carries implications for understanding and possible treatment of FALS.
1,468 citations
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Health Canada1, Brigham Young University2, Imperial College London3, University of Washington4, Institute for Health Metrics and Evaluation5, Harvard University6, Research Triangle Park7, University of British Columbia8, King's College London9, University of California, Berkeley10, University of California, San Francisco11, University of Liverpool12, Fudan University13, World Health Organization14, University of Ottawa15, American Cancer Society16, Health Effects Institute17
TL;DR: A fine particulate mass–based RR model that covered the global range of exposure by integrating RR information from different combustion types that generate emissions of particulate matter is developed.
Abstract: Background: Estimating the burden of disease attributable to long-term exposure to fine particulate matter (PM2.5) in ambient air requires knowledge of both the shape and magnitude of the relative ...
1,468 citations
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1,467 citations
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TL;DR: It is reported that knocking down the chemokine receptor CXCR2 (IL8RB) alleviates both replicative and oncogene-induced senescence (OIS) and diminishes the DNA-damage response and suggests that senescent cells activate a self-amplifying secretory network in which CX CR2-binding chemokines reinforce growth arrest.
1,465 citations
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TL;DR: A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion and to be considered at risk in view of age-related penetration in this disorder.
Abstract: Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the disease is more difficult to diagnosis in many patients. Serious consequences may result if visceral arteriovenous malformations, particularly in the pulmonary circulation, are unrecognized and left untreated. In spite of the identification of two of the disease-causing genes (endoglin and ALK-1), only a clinical diagnosis of HHT can be provided for the majority of individuals. On behalf of the Scientific Advisory Board of the HHT Foundation International, Inc., we present consensus clinical diagnostic criteria. The four criteria (epistaxes, telangiectasia, visceral lesions and an appropriate family history) are carefully delineated. The HHT diagnosis is definite if three criteria are present. A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion. If fewer than two criteria are present, HHT is unlikely, although children of affected individuals should be considered at risk in view of age-related penetration in this disorder. These criteria may be refined as molecular diagnostic tests become available in the next few years.
1,462 citations
Authors
Showing all 90798 results
Name | H-index | Papers | Citations |
---|---|---|---|
Albert Hofman | 267 | 2530 | 321405 |
David Miller | 203 | 2573 | 204840 |
Tamara B. Harris | 201 | 1143 | 163979 |
Mark I. McCarthy | 200 | 1028 | 187898 |
Peter J. Barnes | 194 | 1530 | 166618 |
Simon D. M. White | 189 | 795 | 231645 |
Patrick W. Serruys | 186 | 2427 | 173210 |
John Hardy | 177 | 1178 | 171694 |
Simon Baron-Cohen | 172 | 773 | 118071 |
Richard H. Friend | 169 | 1182 | 140032 |
Yang Gao | 168 | 2047 | 146301 |
Hongfang Liu | 166 | 2356 | 156290 |
Philippe Froguel | 166 | 820 | 118816 |
Salvador Moncada | 164 | 495 | 138030 |
Dennis R. Burton | 164 | 683 | 90959 |