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Association of NOD2...
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
- Article/chapterEnglish2001
Publisher, publication year, extent ...
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Springer Science and Business Media LLC,2001
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:liu-25756
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-25756URI
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https://doi.org/10.1038/35079107DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:17479979URI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Crohn's disease and ulcerative colitis, the two main types of chronic inflammatory bowel disease, are multifactorial conditions of unknown aetiology. A susceptibility locus for Crohn's disease has been mapped to chromosome 16. Here we have used a positional-cloning strategy, based on linkage analysis followed by linkage disequilibrium mapping, to identify three independent associations for Crohn's disease: a frameshift variant and two missense variants of NOD2, encoding a member of the Apaf-1/Ced-4 superfamily of apoptosis regulators that is expressed in monocytes. These NOD2 variants alter the structure of either the leucine-rich repeat domain of the protein or the adjacent region. NOD2 activates nuclear factor NF-?B, this activating function is regulated by the carboxy-terminal leucine-rich repeat domain, which has an inhibitory role and also acts as an intracellular receptor for components of microbial pathogens. These observations suggest that the NOD2 gene product confers susceptibility to Crohn's disease by altering the recognition of these components and/or by over-activating NF-?B in monocytes, thus documenting a molecular model for the pathogenic mechanism of Crohn's disease that can now be further investigated.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Chamaillard, M
(author)
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Zouali, H
(author)
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Lesage, S
(author)
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C´zard, J-P
(author)
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Belaiche, J
(author)
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Almer, Sven,1953-Östergötlands Läns Landsting,Linköpings universitet,Hälsouniversitetet,Gastroenterologi och hepatologi,GE: gastromed(Swepub:liu)sveal38
(author)
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Tysk, CLinköpings universitet,Hälsouniversitetet,Gastroenterologi och hepatologi
(author)
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O'Morain, A
(author)
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Gassull, M
(author)
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Binder, V
(author)
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Finkel, YKarolinska Institutet
(author)
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Cortot, A
(author)
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Modigliani, R
(author)
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Laurent-Puig, P
(author)
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Gower-Rousseau, C
(author)
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Macry, J
(author)
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Comombel, J-F
(author)
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Sahbatou, M
(author)
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Thomas, G
(author)
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Linköpings universitetHälsouniversitetet
(creator_code:org_t)
Related titles
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In:Nature: Springer Science and Business Media LLC411:6837, s. 599-6030028-08361476-4687
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Hugot, J-P
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Chamaillard, M
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Zouali, H
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Lesage, S
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C´zard, J-P
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Belaiche, J
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Almer, Sven, 195 ...
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Tysk, C
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O'Morain, A
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Gassull, M
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Binder, V
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Finkel, Y
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Cortot, A
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Modigliani, R
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Laurent-Puig, P
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Gower-Rousseau, ...
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Macry, J
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Comombel, J-F
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Sahbatou, M
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Thomas, G
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Nature
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Linköping University
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Karolinska Institutet