Institution
University of British Columbia
Education•Vancouver, British Columbia, Canada•
About: University of British Columbia is a education organization based out in Vancouver, British Columbia, Canada. It is known for research contribution in the topics: Population & Poison control. The organization has 89939 authors who have published 209679 publications receiving 9226862 citations. The organization is also known as: UBC & The University of British Columbia.
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Medical Research Council1, Radboud University Nijmegen2, University of South Florida3, Indiana University – Purdue University Indianapolis4, University of Debrecen5, University of Bristol6, University of British Columbia7, University College London8, University of Toronto9, Washington University in St. Louis10, Hungarian Academy of Sciences11, Vrije Universiteit Brussel12, Russian Academy of Sciences13, Scripps Research Institute14
TL;DR: Uncharacterized and uncharacterized protein segments are likely to be a large source of functional novelty relevant for discovering new biology as discussed by the authors, which is likely to lead to the discovery of novel functions as well as provide important insights into existing biological processes.
Abstract: 1.1. Uncharacterized Protein Segments Are a Source of Functional Novelty
Over the past decade, we have observed a massive increase in the amount of information describing protein sequences from a variety of organisms.1,2 While this may reflect the diversity in sequence space, and possibly also in function space,3 a large proportion of the sequences lacks any useful function annotation.4,5 Often these sequences are annotated as putative or hypothetical proteins, and for the majority their functions still remain unknown.6,7 Suggestions about potential protein function, primarily molecular function, often come from computational analysis of their sequences. For instance, homology detection allows for the transfer of information from well-characterized protein segments to those with similar sequences that lack annotation of molecular function.8−10 Other aspects of function, such as the biological processes proteins participate in, may come from genetic- and disease-association studies, expression and interaction network data, and comparative genomics approaches that investigate genomic context.11−17 Characterization of unannotated and uncharacterized protein segments is expected to lead to the discovery of novel functions as well as provide important insights into existing biological processes. In addition, it is likely to shed new light on molecular mechanisms of diseases that are not yet fully understood. Thus, uncharacterized protein segments are likely to be a large source of functional novelty relevant for discovering new biology.
966 citations
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TL;DR: The positional cloning of the locus associated with juvenile hemochromatosis is reported and the identification of a new gene crucial to iron metabolism is identified, now called HFE2, whose protein product the authors call hemojuvelin.
Abstract: Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload resulting in cardiomyopathy, diabetes and hypogonadism that presents in the teens and early 20s (refs. 1,2). Juvenile hemochromatosis has previously been linked to the centromeric region of chromosome 1q (refs. 3–6), a region that is incomplete in the human genome assembly. Here we report the positional cloning of the locus associated with juvenile hemochromatosis and the identification of a new gene crucial to iron metabolism. We finely mapped the recombinant interval in families of Greek descent and identified multiple deleterious mutations in a transcription unit of previously unknown function (LOC148738), now called HFE2, whose protein product we call hemojuvelin. Analysis of Greek, Canadian and French families indicated that one mutation, the amino acid substitution G320V, was observed in all three populations and accounted for two-thirds of the mutations found. HFE2 transcript expression was restricted to liver, heart and skeletal muscle, similar to that of hepcidin, a key protein implicated in iron metabolism7,8,9. Urinary hepcidin levels were depressed in individuals with juvenile hemochromatosis, suggesting that hemojuvelin is probably not the hepcidin receptor. Rather, HFE2 seems to modulate hepcidin expression.
966 citations
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TL;DR: In this paper, the authors show that the presence of business cycles in HP filtered data does not imply that there are business cycle in the original data and that under plausible assumptions HP stylized facts are determined primarily by the filter and reveal little about the dynamics of underlying data.
966 citations
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TL;DR: An integrated index for operationalising walkability using parcel-level information is proposed based on transportation and urban planning literatures, which supports a link between neighbourhood built environment and physical activity.
Abstract: Emerging evidence supports a link between neighbourhood built environment and physical activity. Systematic methodologies for characterising neighbourhood built environment are needed that take advantage of available population information such as census-level demographics. Based on transportation and urban planning literatures, an integrated index for operationalising walkability using parcel-level information is proposed. Validity of the walkability index is examined through travel surveys among areas examined in the Neighborhood Quality of Life Study (NQLS), a study investigating built environment correlates of adults' physical activity.
965 citations
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Paris Diderot University1, Lenox Hill Hospital2, University of Cincinnati3, Boston Children's Hospital4, Medical College of Wisconsin5, University of California, San Francisco6, Columbia University7, Johns Hopkins University8, Université de Montréal9, University of British Columbia10, Cliniques Universitaires Saint-Luc11
TL;DR: The updated official ISSVA classification of vascular anomalies is presented, acknowledging that it will require modification as new scientific information becomes available.
Abstract: Vascular anomalies represent a spectrum of disorders from a simple "birthmark" to life- threatening entities. Incorrect nomenclature and misdiagnoses are commonly experienced by patients with these anomalies. Accurate diagnosis is crucial for appropriate evaluation and management, often requiring multidisciplinary specialists. Classification schemes provide a consistent terminology and serve as a guide for pathologists, clinicians, and researchers. One of the goals of the International Society for the Study of Vascular Anomalies (ISSVA) is to achieve a uniform classification. The last classification (1997) stratified vascular lesions into vascular malformations and proliferative vascular lesions (tumors). However, additional disease entities have since been identified that are complex and less easily classified by generic headings, such as capillary malformation, venous malformation, lymphatic malformation, etc. We hereby present the updated official ISSVA classification of vascular anomalies. The general biological scheme of the classification is retained. The section on tumors has been expanded and lists the main recognized vascular tumors, classified as benign, locally aggressive or borderline, and malignant. A list of well-defined diseases is included under each generic heading in the "Simple Vascular Malformations" section. A short definition is added for eponyms. Two new sections were created: one dealing with the malformations of individually named vessels (previously referred to as "truncular" malformations); the second groups lesions of uncertain or debated nature (tumor versus malformation). The known genetic defects underlying vascular anomalies are included in an appendix. This classification is meant to be a framework, acknowledging that it will require modification as new scientific information becomes available.
963 citations
Authors
Showing all 90682 results
Name | H-index | Papers | Citations |
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Gordon H. Guyatt | 231 | 1620 | 228631 |
John C. Morris | 183 | 1441 | 168413 |
Douglas Scott | 178 | 1111 | 185229 |
John R. Yates | 177 | 1036 | 129029 |
Deborah J. Cook | 173 | 907 | 148928 |
Richard A. Gibbs | 172 | 889 | 249708 |
Evan E. Eichler | 170 | 567 | 150409 |
James F. Sallis | 169 | 825 | 144836 |
Michael Snyder | 169 | 840 | 130225 |
Jiawei Han | 168 | 1233 | 143427 |
Michael Kramer | 167 | 1713 | 127224 |
Bruce L. Miller | 163 | 1153 | 115975 |
Peter A. R. Ade | 162 | 1387 | 138051 |
Marc W. Kirschner | 162 | 457 | 102145 |
Kaj Blennow | 160 | 1845 | 116237 |