Mutations in TJP2 cause progressive cholestatic liver disease.
Mutations in TJP2 cause progressive cholestatic liver disease.
复制标题
TJP2的突变引起进行性胆汁淤积性肝病。
DOI：
10.1038/ng.2918
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发表时间：
2014-04
期刊：
影响因子：
30.8
通讯作者：
Thompson RJ
中科院分区：
文献类型：
--
作者：
Sambrotta M;Strautnieks S;Papouli E;Rushton P;Clark BE;Parry DA;Logan CV;Newbury LJ;Kamath BM;Ling S;Grammatikopoulos T;Wagner BE;Magee JC;Sokol RJ;Mieli-Vergani G;University of Washington Center for Mendelian Genomics;Smith JD;Johnson CA;McClean P;Simpson MA;Knisely AS;Bull LN;Thompson RJ
事实证明，阐明胆汁淤积的遗传原因对于理解肝脏的生理学和病理生理学非常重要。紧密连接蛋白 2 基因 (TJP2) 中的蛋白质截短突变会导致蛋白质定位失败，紧密连接结构破坏会导致严重的胆汁淤积性肝病。这与胚胎致死性基因敲除小鼠形成鲜明对比，凸显了器官和物种之间连接复合物冗余的差异。
The elucidation of genetic causes of cholestasis has proved to be important in understanding the physiology and pathophysiology of the liver. Protein-truncating mutations in the tight junction protein 2 gene (TJP2) are shown to cause failure of protein localisation, with disruption of tight-junction structure leading to severe cholestatic liver disease. This contrasts with the embryonic-lethal knockout mouse, highlighting differences in redundancy in junctional complexes between organs and species.