Journal
NATURE GENETICS
Volume 46, Issue 4, Pages 326-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2918
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Funding
- Alex Mowat PhD Studentship
- King's College Hospital Department of Research and Development
- National Institute for Health Research (NIHR) Biomedical Research Centre
- St Thomas' NHS Foundation Trust and King's College London
- Sir Jules Thorn Award for Biomedical Research [JTA/09]
- US National Institutes of Health (NIH) [R56 DK094828]
- University of California
- San Francisco (UCSF)-King's College Health Partners Faculty Fellowship Travel Grant (UCSF Academic Senate)
- US NIH [U01 DK062500, U01 DK062453, UL1 TR000154, U01 DK062456]
- National Human Genome Research Institute
- NHLBI [1U54HG006493]
- The Sir Jules Thorn Charitable Trust [09JTA] Funding Source: researchfish
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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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