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Article

Pathogenic OTUD3 Mutations Predispose to Ulcerative Colitis Due to Barrier Dysfunction.

Cellular and molecular gastroenterology and hepatology - 1 Jan 2026

Giri Rabina, Lee Minyi, Magor Graham W, Bergot Anne-Sophie, He Yaowu, Kryza Thomas, Khan Tashbib, Schreiber Veronika, Gordon Robert J, Zagani Rachid, Hasnain Sumaira Z, Lourie Rohan, Ewing Adam, Hooper John D, Thomas Ranjeny, Florin Timothy H, Perkins Andrew, Gala Manish, Begun Jakob

Abstract excerpt

BACKGROUND & AIMS: The contribution of common genetic polymorphisms to ulcerative colitis (UC) pathogenesis is modest; however, families with severe colitis may harbor rare variants with large effect sizes that highlight unrecognized pathways. METHODS: A multigenerational family with UC necessitating colectomy was identified. Whole exome sequencing of this kindred was performed, implicating a rare variant in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41067575
DOI: 10.1016/j.jcmgh.2025.101659
PMCID: PMC12718466

Genes

OTUD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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