Article
Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan.
Scientific reports - 11 Jul 2016
Umemura Takeji, Joshita Satoru, Yamazaki Tomoo, Komatsu Michiharu, Katsuyama Yoshihiko, Yoshizawa Kaname, Tanaka Eiji, Ota Masao
Abstract excerpt
Autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC) are liver-specific autoimmune conditions that are characterized by chronic hepatic damage and often lead to cirrhosis and hepatic failure. Specifically, the protein tyrosine phosphatase N22 (PTPN22) gene encodes the lymphoid protein tyrosine phosphatase, which acts as a negative regulator of T-cell receptor signaling. A missense single nucleotide...
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