SwePub
Sök i SwePub databas

  Utökad sökning

Träfflista för sökning "WFRF:(Duerr Richard H.) "

Sökning: WFRF:(Duerr Richard H.)

  • Resultat 11-14 av 14
Sortera/gruppera träfflistan
   
NumreringReferensOmslagsbildHitta
11.
  • McCarroll, Steven A, et al. (författare)
  • Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
  • 2008
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 40:9, s. 1107-1112
  • Tidskriftsartikel (refereegranskat)abstract
    • Following recent success in genome-wide association studies, a critical focus of human genetics is to understand how genetic variation at implicated loci influences cellular and disease processes. Crohn's disease (CD) is associated with SNPs around IRGM, but coding-sequence variation has been excluded as a source of this association. We identified a common, 20-kb deletion polymorphism, immediately upstream of IRGM and in perfect linkage disequilibrium (r2 = 1.0) with the most strongly CD-associated SNP, that causes IRGM to segregate in the population with two distinct upstream sequences. The deletion (CD risk) and reference (CD protective) haplotypes of IRGM showed distinct expression patterns. Manipulation of IRGM expression levels modulated cellular autophagy of internalized bacteria, a process implicated in CD. These results suggest that the CD association at IRGM arises from an alteration in IRGM regulation that affects the efficacy of autophagy and identify a common deletion polymorphism as a likely causal variant.
  •  
12.
  • Rivas, Manuel A., et al. (författare)
  • Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
  • 2011
  • Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:11, s. 1066-U50
  • Tidskriftsartikel (refereegranskat)abstract
    • More than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 x 10(-16), odds ratio approximate to 0.29) and additional associations with coding variants in IL18RAP, CUL2, C1orf106, PTPN22 and MUC19. We extend the results of successful GWAS by identifying new, rare and probably functional variants that could aid functional experiments and predictive models.
  •  
13.
  •  
14.
  • Zucchelli, Marco, et al. (författare)
  • Association of TNFSF15 polymorphism with irritable bowel syndrome.
  • 2011
  • Ingår i: Gut. - London : BMJ. - 1468-3288 .- 0017-5749. ; 60:12, s. 1671-7
  • Tidskriftsartikel (refereegranskat)abstract
    • Irritable bowel syndrome (IBS) is the most common gastrointestinal disorder, affecting more than 10% of the general population worldwide. Although a genetic component is suspected, unambiguous susceptibility genes have so far not been identified. This study tested the hypothesis that genes contributing to epithelial barrier integrity, control of mucosal immune responses and interactions with bacteria in the gut are associated with IBS.
  •  
Skapa referenser, mejla, bekava och länka
  • Resultat 11-14 av 14
Typ av publikation
tidskriftsartikel (14)
Typ av innehåll
refereegranskat (14)
Författare/redaktör
Rioux, John D. (10)
Daly, Mark J. (9)
Silverberg, Mark S. (9)
Halfvarson, Jonas, 1 ... (8)
D'Amato, Mauro (8)
Franke, Andre (8)
visa fler...
Goyette, Philippe (7)
Haritunians, Talin (6)
Vermeire, Severine (5)
Wijmenga, Cisca (5)
Törkvist, Leif (4)
Taylor, Kent D. (4)
Ellinghaus, David (4)
Karlsen, Tom H (3)
Ahmad, Tariq (3)
Rotter, Jerome I. (3)
Padyukov, Leonid (3)
Rivas, Manuel A. (3)
Hakonarson, Hakon (3)
Barrett, Jeffrey C (3)
Schreiber, Stefan (3)
Neale, Benjamin M (3)
Jostins, Luke (3)
Parkes, Miles (3)
Boucher, Gabrielle (3)
Schumm, L. Philip (3)
Carlson, Marie (2)
Albrecht, Mario (2)
Halfvarson, Jonas (2)
Färkkilä, Martti (2)
Wu, Jing (2)
Andersen, Vibeke (2)
Torkvist, Leif (2)
Roeder, Kathryn (2)
Altshuler, David (2)
Siscovick, David S. (2)
Lee, James (2)
Winkelmann, Juliane (2)
Mathew, Christopher ... (2)
Satsangi, Jack (2)
Li, Dalin (2)
Ripke, Stephan (2)
Glazer, Nicole L. (2)
Pettersson, Sven (2)
Noethen, Markus M. (2)
Kupcinskas, Limas (2)
Doncheva, Nadezhda T ... (2)
Seielstad, Mark (2)
Cleynen, Isabelle (2)
Zeissig, Sebastian (2)
visa färre...
Lärosäte
Karolinska Institutet (12)
Örebro universitet (10)
Göteborgs universitet (2)
Umeå universitet (2)
Uppsala universitet (2)
Stockholms universitet (1)
visa fler...
Lunds universitet (1)
visa färre...
Språk
Engelska (14)
Forskningsämne (UKÄ/SCB)
Medicin och hälsovetenskap (9)
Naturvetenskap (2)

År

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy