Article

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

2025-07-02

Abstract excerpt

The protein tyrosine phosphatase SHP2, encoded by PTPN11 , is an important regulator of Ras/MAPK 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, others are inactivating or a...

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Literature Corpus work: 53a83426-bbb9-54c1-8c3a-fcd81a0e63db
DOI: 10.1101/2025.06.30.662374

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