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Page 1
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW. Stoffels M, et al. Among authors: van diemen cc, van der meer jw, van gijn m, van deuren m. Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16. Ann Rheum Dis. 2014. PMID: 23505238
Common and different genetic background for rheumatoid arthritis and coeliac disease.
Coenen MJ, Trynka G, Heskamp S, Franke B, van Diemen CC, Smolonska J, van Leeuwen M, Brouwer E, Boezen MH, Postma DS, Platteel M, Zanen P, Lammers JW, Groen HJ, Mali WP, Mulder CJ, Tack GJ, Verbeek WH, Wolters VM, Houwen RH, Mearin ML, van Heel DA, Radstake TR, van Riel PL, Wijmenga C, Barrera P, Zhernakova A. Coenen MJ, et al. Among authors: van heel da, van leeuwen m, van diemen cc, van riel pl. Hum Mol Genet. 2009 Nov 1;18(21):4195-203. doi: 10.1093/hmg/ddp365. Epub 2009 Jul 31. Hum Mol Genet. 2009. PMID: 19648290
Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk.
Festen EA, Stokkers PC, van Diemen CC, van Bodegraven AA, Boezen HM, Crusius BJ, Hommes DW, van der Woude CJ, Balschun T, Verspaget HW, Schreiber S, de Jong DJ, Franke A, Dijkstra G, Wijmenga C, Weersma RK. Festen EA, et al. Among authors: van der woude cj, van bodegraven aa, van diemen cc. Am J Gastroenterol. 2010 Feb;105(2):395-402. doi: 10.1038/ajg.2009.576. Epub 2009 Oct 27. Am J Gastroenterol. 2010. PMID: 19861958
Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.
Fransen K, Visschedijk MC, van Sommeren S, Fu JY, Franke L, Festen EA, Stokkers PC, van Bodegraven AA, Crusius JB, Hommes DW, Zanen P, de Jong DJ, Wijmenga C, van Diemen CC, Weersma RK. Fransen K, et al. Among authors: van bodegraven aa, van diemen cc, van sommeren s. Hum Mol Genet. 2010 Sep 1;19(17):3482-8. doi: 10.1093/hmg/ddq264. Epub 2010 Jul 3. Hum Mol Genet. 2010. PMID: 20601676
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.
Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Plaza Izurieta L, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V, Mitrovic M, Mora B, Morelli M, Nutland S, Núñez C, Onengut-Gumuscu S, Pearce K, Platteel M, Polanco I, Potter S, Ribes-Koninckx C, Ricaño-Ponce I, Rich SS, Rybak A, Santiago JL, Senapati S, Sood A, Szajewska H, Troncone R, Varadé J, Wallace C, Wolters VM, Zhernakova A; Spanish Consortium on the Genetics of Coeliac Disease (CEGEC); PreventCD Study Group; Wellcome Trust Case Control Consortium (WTCCC); Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett JC, Plagnol V, Deloukas P, Wijmenga C, van Heel DA. Trynka G, et al. Among authors: van heel da, van diemen cc. Nat Genet. 2011 Nov 6;43(12):1193-201. doi: 10.1038/ng.998. Nat Genet. 2011. PMID: 22057235 Free PMC article.
Functional genomics identifies type I interferon pathway as central for host defense against Candida albicans.
Smeekens SP, Ng A, Kumar V, Johnson MD, Plantinga TS, van Diemen C, Arts P, Verwiel ET, Gresnigt MS, Fransen K, van Sommeren S, Oosting M, Cheng SC, Joosten LA, Hoischen A, Kullberg BJ, Scott WK, Perfect JR, van der Meer JW, Wijmenga C, Netea MG, Xavier RJ. Smeekens SP, et al. Nat Commun. 2013;4:1342. doi: 10.1038/ncomms2343. Nat Commun. 2013. PMID: 23299892 Free PMC article.
Improving coeliac disease risk prediction by testing non-HLA variants additional to HLA variants.
Romanos J, Rosén A, Kumar V, Trynka G, Franke L, Szperl A, Gutierrez-Achury J, van Diemen CC, Kanninga R, Jankipersadsing SA, Steck A, Eisenbarth G, van Heel DA, Cukrowska B, Bruno V, Mazzilli MC, Núñez C, Bilbao JR, Mearin ML, Barisani D, Rewers M, Norris JM, Ivarsson A, Boezen HM, Liu E, Wijmenga C; PreventCD Group. Romanos J, et al. Among authors: van heel da, van diemen cc. Gut. 2014 Mar;63(3):415-22. doi: 10.1136/gutjnl-2012-304110. Epub 2013 May 23. Gut. 2014. PMID: 23704318 Free PMC article. Clinical Trial.
66 results