Title |
Mutations in TJP2 cause progressive cholestatic liver disease
|
---|---|
Published in |
Nature Genetics, March 2014
|
DOI | 10.1038/ng.2918 |
Pubmed ID | |
Authors |
Melissa Sambrotta, Sandra Strautnieks, Efterpi Papouli, Peter Rushton, Barnaby E Clark, David A Parry, Clare V Logan, Lucy J Newbury, Binita M Kamath, Simon Ling, Tassos Grammatikopoulos, Bart E Wagner, John C Magee, Ronald J Sokol, Giorgina Mieli-Vergani, Joshua D Smith, Colin A Johnson, Patricia McClean, Michael A Simpson, A S Knisely, Laura N Bull, Richard J Thompson |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 40% |
United Kingdom | 1 | 20% |
Unknown | 2 | 40% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 4 | 80% |
Members of the public | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Japan | 1 | <1% |
United Kingdom | 1 | <1% |
United States | 1 | <1% |
France | 1 | <1% |
Unknown | 136 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 30 | 21% |
Student > Ph. D. Student | 21 | 15% |
Student > Master | 12 | 9% |
Other | 10 | 7% |
Student > Bachelor | 8 | 6% |
Other | 27 | 19% |
Unknown | 32 | 23% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 31 | 22% |
Agricultural and Biological Sciences | 26 | 19% |
Biochemistry, Genetics and Molecular Biology | 25 | 18% |
Pharmacology, Toxicology and Pharmaceutical Science | 9 | 6% |
Immunology and Microbiology | 2 | 1% |
Other | 9 | 6% |
Unknown | 38 | 27% |