[HTML][HTML] Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia

W Zhang, RJ Chan, H Chen, Z Yang, Y He… - Journal of biological …, 2009 - ASBMB
Noonan syndrome (NS) is an autosomal dominant congenital disorder characterized by
multiple birth defects including heart defects and myeloproliferative disease (MPD).
Approximately 50% of NS patients have germline gain-of-function mutations in PTPN11,
which encodes the protein-tyrosine phosphatase, Shp2. We provide evidence that
conditional ablation of Stat3 in hematopoietic cells and cardiac valvular tissues leads to
myeloid progenitor hyperplasia and pulmonary stenosis due to the leaflet thickening …