Now showing items 1-7 of 7

    • Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis 

      Beaudoin, Mélissa; Goyette, Philippe; Boucher, Gabrielle; Lo, Ken Sin; Rivas, Manuel A.; Stevens, Christine; Alikashani, Azadeh; Ladouceur, Martin; Ellinghaus, David; Törkvist, Leif; Goel, Gautam; Lagacé, Caroline; Annese, Vito; Bitton, Alain; Begun, Jakob; Brant, Steve R.; Bresso, Francesca; Cho, Judy H.; Duerr, Richard H.; Halfvarson, Jonas; McGovern, Dermot P. B.; Radford-Smith, Graham; Schreiber, Stefan; Schumm, Philip L.; Sharma, Yashoda; Silverberg, Mark S.; Weersma, Rinse K.; D'Amato, Mauro; Vermeire, Severine; Franke, Andre; Lettre, Guillaume; Xavier, Ramnik J.; Daly, Mark J.; Rioux, John D. (Public Library of Science, 2013)
      Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory ...
    • Discovery of a Small-Molecule Probe for V-ATPase Function 

      Aldrich, Leslie N.; Kuo, Szu-Yu; Castoreno, Adam B.; Goel, Gautam; Kuballa, Petric; Rees, Matthew G.; Seashore-Ludlow, Brinton A.; Cheah, Jaime H.; Latorre, Isabel J.; Schreiber, Stuart L.; Shamji, Alykhan F.; Xavier, Ramnik J. (American Chemical Society, 2015)
      Lysosomes perform a critical cellular function as a site of degradation for diverse cargoes including proteins, organelles, and pathogens delivered through distinct pathways, and defects in lysosomal function have been ...
    • Functional genomics identifies negative regulatory nodes controlling phagocyte oxidative burst 

      Graham, Daniel B.; Becker, Christine E.; Doan, Aivi; Goel, Gautam; Villablanca, Eduardo J.; Knights, Dan; Mok, Amanda; Ng, Aylwin C.Y.; Doench, John G.; Root, David E.; Clish, Clary B.; Xavier, Ramnik J. (Nature Pub. Group, 2015)
      The phagocyte oxidative burst, mediated by Nox2 NADPH oxidase-derived reactive oxygen species, confers host defense against a broad spectrum of bacterial and fungal pathogens. Loss-of-function mutations that impair function ...
    • An Image-Based Genetic Assay Identifies Genes in T1D Susceptibility Loci Controlling Cellular Antiviral Immunity in Mouse 

      Liao, Juan; Jijon, Humberto B.; Kim, Ira R.; Goel, Gautam; Doan, Aivi; Sokol, Harry; Bauer, Hermann; Herrmann, Bernhard G.; Lassen, Kara G.; Xavier, Ramnik J. (Public Library of Science, 2014)
      The pathogenesis of complex diseases, such as type 1 diabetes (T1D), derives from interactions between host genetics and environmental factors. Previous studies have suggested that viral infection plays a significant role ...
    • Integrated Genomics of Crohn’s Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy 

      Begun, Jakob; Lassen, Kara G.; Jijon, Humberto B.; Baxt, Leigh A.; Goel, Gautam; Heath, Robert J.; Ng, Aylwin; Tam, Jenny M.; Kuo, Szu-Yu; Villablanca, Eduardo J.; Fagbami, Lola; Oosting, Marije; Kumar, Vinod; Schenone, Monica; Carr, Steven A.; Joosten, Leo A.B.; Vyas, Jatin M.; Daly, Mark J.; Netea, Mihai G.; Brown, Gordon D.; Wijmenga, Cisca; Xavier, Ramnik J. (Cell Press, 2015)
      Summary The polymorphism ATG16L1 T300A, associated with increased risk of Crohn’s disease, impairs pathogen defense mechanisms including selective autophagy, but specific pathway interactions altered by the risk allele ...
    • The kinase DYRK1A reciprocally regulates the differentiation of Th17 and regulatory T cells 

      Khor, Bernard; Gagnon, John D; Goel, Gautam; Roche, Marly I; Conway, Kara L; Tran, Khoa; Aldrich, Leslie N; Sundberg, Thomas B; Paterson, Alison M; Mordecai, Scott; Dombkowski, David; Schirmer, Melanie; Tan, Pauline H; Bhan, Atul K; Roychoudhuri, Rahul; Restifo, Nicholas P; O'Shea, John J; Medoff, Benjamin D; Shamji, Alykhan F; Schreiber, Stuart L; Sharpe, Arlene H; Shaw, Stanley Y; Xavier, Ramnik J (eLife Sciences Publications, Ltd, 2015)
      The balance between Th17 and T regulatory (Treg) cells critically modulates immune homeostasis, with an inadequate Treg response contributing to inflammatory disease. Using an unbiased chemical biology approach, we identified ...
    • Multivariate inference of pathway activity in host immunity and response to therapeutics 

      Goel, Gautam; Conway, Kara L.; Jaeger, Martin; Netea, Mihai G.; Xavier, Ramnik J. (Oxford University Press, 2014)
      Developing a quantitative view of how biological pathways are regulated in response to environmental factors is central for understanding of disease phenotypes. We present a computational framework, named Multivariate ...