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Basic and Translational Advances in Liver Research

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Original Research
Open Access
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome
Cellular and Molecular Gastroenterology and Hepatology
Vol. 2Issue 5p663–675.e2Published online: May 27, 2016
- Ellen A. Tsai
- Melissa A. Gilbert
- Christopher M. Grochowski
- Lara A. Underkoffler
- He Meng
- Xiaojie Zhang
- and others
Cited in Scopus: 26
Alagille syndrome is an autosomal-dominant, multisystem disorder caused primarily by mutations in JAG1, resulting in bile duct paucity, cholestasis, cardiac disease, and other features. Liver disease severity in Alagille syndrome is highly variable, however, factors influencing the hepatic phenotype are unknown. We hypothesized that genetic modifiers may contribute to the variable expressivity of this disorder.