Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants.

Abstract excerpt

The protein tyrosine phosphatase SHP2, encoded by PTPN11, is an important regulator of Ras/mitogen-activated protein kinase signaling that acts downstream of receptor tyrosine kinases and other transmembrane receptors. Germline PTPN11 mutations cause developmental disorders such as Noonan syndrome, whereas somatic mutations drive various cancers. While many pathogenic mutations enhance SHP2 catalytic activity,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Gene Expression Profiling
• Share to Mutation