Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

By M. Tartaglia, E. Mehler, R. Goldberg, G. Zampino, H. Brunner, H. Kremer, I. Burgt, A. Crosby, A. Ion, S. Jeffery and 4 more. Nature Genetics, 2001

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Hyperactive Ras in developmental disorders and cancer (2007, background): “PTPN11 was identified as the causative gene in ∼50% of Noonan syndrome cases through a positional cloning and candidate gene approac”
Mechanisms of BCR–ABL in the pathogenesis of chronic myelogenous leukaemia (2005, neutral): “DH p185 (1-426) p210 (1-902–927) p230 (1–1,176) Y177 Myr GAG BCR F G 1a 1b”
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. (2005, background): “, 2003), and activating mutations in the SHP-2 phosphatase seen in Noonan’s syndrome and in a subset of juvenile myelomonocytic leukemias disrupt the autoinhibitory SH2 domain/phosphatase domain interface (Tartaglia et al., 2001; Tartaglia et al., 2003).”
Sensitized RNAi screen of human kinases and phosphatases identifies new regulators of apoptosis and chemoresistance (2005, background): “Indeed, the concept of certain phosphatases acting to promote oncogenic signalling is supported by detection of activated mutant forms of the PTP SHP-2, which causes Noonan's syndrom”