Department of Pediatrics, Division of Gastroenterology, Hepatology & Nutrition, Program in Cell Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. aleixo.muise@sickkids.ca
Expert review of molecular diagnostics 2008 JulInflammatory bowel disease is a complex multifactorial disease with a strong genetic component. Recent studies have identified innate immunity (NOD2), autophagy (ATG16L1) and Th17 pathway (IL23R) genes in the pathogenesis of Crohn's disease. The pathogenesis of ulcerative colitis (UC) is less clear; however, there is growing evidence that proteins involved in the apical junction complex are involved in UC. Here we review the up-to-date studies on the genetic basis for IBD and explore the newly described UC-associated apical junction complex pointing to a primary defect in barrier defense. We will focus on the PTPRS (encoding PTPsigma) gene and discuss its and other apical junction complex proteins' role in the pathogenesis of UC.
Aleixo Muise, Daniela Rotin. Apical junction complex proteins and ulcerative colitis: a focus on the PTPRS gene. Expert review of molecular diagnostics. 2008 Jul;8(4):465-77
PMID: 18598228
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