Article
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
Mucosal immunology - 1 Mar 2018
Schwerd T, Bryant R V, Pandey S, Capitani M, Meran L, Cazier J-B, Jung J, Mondal K, Parkes M, Mathew C G, Fiedler K, McCarthy D J, Sullivan P B, Rodrigues A, Travis S P L, Moore C, Sambrook J, Ouwehand W H, Roberts D J, Danesh J, Russell R K, Wilson D C, Kelsen J R, Cornall R, Denson L A, Kugathasan S, Knaus U G, Serra E G, Anderson C A, Duerr R H, McGovern D Pb, Cho J, Powrie F, Li V Sw, Muise A M, Uhlig H H
Abstract excerpt
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1 was identified in a patient with ulcerative colitis-like VEOIBD. Exome screening of 1,878 pediatric patients identified further seven male inflammatory bowel disease (IBD) patients with...
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