Article
Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ.
Inflammatory bowel diseases - 1 Sept 2016
Guerrerio Anthony L, Frischmeyer-Guerrerio Pamela A, Huang Chengrui, Wu Yuqiong, Haritunians Talin, McGovern Dermot P B, MacCarrick Gretchen L, Brant Steven R, Dietz Harry C
Abstract excerpt
BACKGROUND: TGFβ is a multifunctional cytokine that is critical in regulating mucosal immunity. Murine studies have revealed that disruption of canonical TGFβ signaling leads to systemic inflammation including colitis. Loeys-Dietz syndrome (LDS) results from heterozygous mutations in the genes encoding the subunits of the TGFβ receptor. METHODS: All patients with confirmed mutations in TGFBR1 or TGFBR2, seen in...
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