Autoimmune liver disease in Noonan Syndrome.
Messina, Italy. In Eur J Med Genet, Mar 2015
In approximately 50% of cases, the disease is caused by missense mutations in the PTPN11 gene on chromosome 12, resulting in a gain of function of the non-receptor protein tyrosine phosphatase SHP-2 protein.
Large-scale characterization of DNA methylation changes in human gastric carcinomas with and without metastasis.
Beijing, China. In Clin Cancer Res, 2014
These genes included BMP3, BNIP3, CDKN2A, ECEL1, ELK1, GFRA1, HOXD10, KCNH1, PSMD10, PTPRT, SIGIRR, SRF, TBX5, TFPI2, and ZNF382.
Clonal architectures and driver mutations in metastatic melanomas.
Saint Louis, United States. In Plos One, 2013
Extension studies using tumors from another 96 patients discovered a large number of truncation mutations in tumor suppressors (TP53 and RB1), protein phosphatases (e.g., PTEN, PTPRB, PTPRD, and PTPRT), as well as chromatin remodeling genes (e.g., ASXL3, MLL2, and ARID2).
Mutational analysis of the tyrosine phosphatome in colorectal cancers.
Baltimore, United States. In Science, 2004
A mutational analysis of the tyrosine phosphatase gene superfamily in human cancers identified 83 somatic mutations in six PTPs (PTPRF, PTPRG, PTPRT, PTPN3, PTPN13, PTPN14), affecting 26% of colorectal cancers and a smaller fraction of lung, breast, and gastric cancers.