Sökning: WFRF:(Willemsen Joschka) > (2014) > A coding IRAK2 vari...
Fältnamn | Indikatorer | Metadata |
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000 | 03471naa a2200493 4500 | |
001 | oai:lup.lub.lu.se:18c52331-d4ae-4ccc-8ce9-1dc8bb8463e6 | |
003 | SwePub | |
008 | 160401s2014 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/45237182 URI |
024 | 7 | a https://doi.org/10.1074/jbc.M113.4929342 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Wang, Hui4 aut |
245 | 1 0 | a A coding IRAK2 variant compromises TLR signaling and is associated with colorectal cancer survival. |
264 | 1 | c 2014 |
520 | a Within innate immune signaling pathways, Interleukin-1 receptor (IL-1R&)-associated kinases (IRAKs) fulfill key roles downstream of multiple Toll-like receptors (TLR) and the IL-1R. Whereas human IRAK4-deficiency was shown to lead to severe immunodeficiency in response to pyogenic bacterial infection during childhood, little is known about the role of human IRAK2. We here identified a non-synonymous IRAK2 variant, rs35060588 (coding R214G), as hypofunctional in terms of NF-κB signaling and TLR-mediated cytokine induction. This was due to reduced ubiquitination of TRAF6, a key step in signal transduction. IRAK2 rs35060588 occurs in 3-9% of individuals in different ethnic groups and our studies uncovered a significant genetic association of rs35060588 with colorectal cancer survival. This for the first time firmly implicates human IRAK2 in human disease and highlights the R214G IRAK2 variant as a potential novel and broadly applicable biomarker for disease or as a therapeutic intervention point. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Hälsovetenskapx Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi0 (SwePub)303022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Public Health, Global Health, Social Medicine and Epidemiology0 (SwePub)303022 hsv//eng |
700 | 1 | a Flannery, Sinead M4 aut |
700 | 1 | a Dickhöfer, Sabine4 aut |
700 | 1 | a Huhn, Stefanie4 aut |
700 | 1 | a George, Julie4 aut |
700 | 1 | a Kubarenko, Andriy V4 aut |
700 | 1 | a Lascorz, Jesus4 aut |
700 | 1 | a Bevier, Melanieu Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-mbv |
700 | 1 | a Willemsen, Joschka4 aut |
700 | 1 | a Pichulik, Tica4 aut |
700 | 1 | a Schafmayer, Clemens4 aut |
700 | 1 | a Binder, Marco4 aut |
700 | 1 | a Manoury, Benedicte4 aut |
700 | 1 | a Paludan, Søren R4 aut |
700 | 1 | a Alarcon Riquelme, Marta4 aut |
700 | 1 | a Bowie, Andrew G4 aut |
700 | 1 | a Försti, Astau Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-asf |
700 | 1 | a Weber, Alexander N R4 aut |
710 | 2 | a Allmänmedicin och klinisk epidemiologib Forskargrupper vid Lunds universitet4 org |
773 | 0 | t Journal of Biological Chemistryg 289:33, s. 23123-23131q 289:33<23123-23131x 1083-351X |
856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/24973222?dopt=Abstracty FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1074/jbc.M113.492934y FULLTEXT |
856 | 4 8 | u https://lup.lub.lu.se/record/4523718 |
856 | 4 8 | u https://doi.org/10.1074/jbc.M113.492934 |
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