Article
Mutations in TJP2 cause progressive cholestatic liver disease.
Nature genetics - 1 Apr 2014
Sambrotta Melissa, Strautnieks Sandra, Papouli Efterpi, Rushton Peter, Clark Barnaby E, Parry David A, Logan Clare V, Newbury Lucy J, Kamath Binita M, Ling Simon, Grammatikopoulos Tassos, Wagner Bart E, Magee John C, Sokol Ronald J, Mieli-Vergani Giorgina, Smith Joshua D, Johnson Colin A, McClean Patricia, Simpson Michael A, Knisely A S, Bull Laura N, Thompson Richard J
Abstract excerpt
Elucidating genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Here we show that protein-truncating mutations in the tight junction protein 2 gene (TJP2) cause failure of protein localization and disruption of tight-junction structure, leading to severe cholestatic liver disease. These findings contrast with those in the embryonic-lethal...
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