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Mutations in TJP2 cause progressive cholestatic liver disease
- 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, AS;
- Bull, Laura N;
- Thompson, Richard J
- et al.
Published Web Location
https://doi.org/10.1038/ng.2918Abstract
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 knockout mouse, highlighting differences in redundancy in junctional complexes between organs and species.
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