Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis
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TL;DR: It is shown that GOF mutations in SHP-2, such as E76K and D61G, drastically increase spreading and migration of various cell types, including hematopoietic cells, endothelial cells, and fibroblasts, and Mechanistic studies suggest that the increased cell migration is attributed to the enhanced β1 integrin outside-in signaling.
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About: This article is published in Journal of Biological Chemistry. The article was published on 09 Jan 2009. and is currently open access. The article focuses on the topics: PTPN11 & Mutation.
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TL;DR: ShP2 mutations causing LS facilitate EGF-induced PI3K/AKT/GSK-3β stimulation through impaired GAB1 dephosphorylation, resulting in deregulation of a novel signaling pathway that could be involved in LS pathology.
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RASopathies: unraveling mechanisms with animal models
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A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells
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TL;DR: It is reported that germ line mutation Ptpn11(D61G) in mice aberrantly accelerates hematopoietic stem cell (HSC) cycling, increases the stem cell pool, and elevates short-term and long-term repopulating capabilities, leading to the development of MPD.
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Protein Tyrosine Phosphatase Expression Profile of Rheumatoid Arthritis Fibroblast‐like Synoviocytes: A Novel Role of SH2 Domain–Containing Phosphatase 2 as a Modulator of Invasion and Survival
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References
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Marco Tartaglia,Marco Tartaglia,Ernest L. Mehler,Rosalie Goldberg,Giuseppe Zampino,Han G. Brunner,Hannie Kremer,Ineke van der Burgt,Andrew H. Crosby,Andra Ion,Steve Jeffery,Kamini Kalidas,Michael A. Patton,Raju Kucherlapati,Bruce D. Gelb +14 more
TL;DR: It is shown that missense mutations in PTPN11—a gene encoding the nonreceptor protein tyrosine phosphatase SHP-2, which contains two Src homology 2 (SH2) domains—cause Noonan syndrome and account for more than 50% of the cases that were examined.
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Catherine D. Nobes,Alan Hall +1 more
TL;DR: It is concluded that the signal transduction pathways controlled by the four small GTPases, Rho, Rac, Cdc42, and Ras, cooperate to promote cell movement.
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Mesenchymal stem cells can be differentiated into endothelial cells in vitro.
Joachim Oswald,Sabine Boxberger,Birgitte Jørgensen,Silvia Feldmann,Gerhard Ehninger,Martin Bornhäuser,Carsten Werner +6 more
TL;DR: The differentiation of expanded adult human MSCs into cells with phenotypic and functional features of endothelial cells are shown to provide new options for engineering of artificial tissues based on autologous M SCs and vascularized engineered tissues.
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