Article
Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.
The Journal of biological chemistry - 14 Aug 2009
Zhang Wenjun, Chan Rebecca J, Chen Hanying, Yang Zhenyun, He Yantao, Zhang Xian, Luo Yong, Yin Fuqing, Moh Akira, Miller Lucy C, Payne R Mark, Zhang Zhong-Yin, Fu Xin-Yuan, Shou Weinian
Abstract excerpt
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...
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