Noonan syndrome is a disease caused by aberrant signaling through the Ras GTPase, yet the underlying causal mutations remain unknown in many affected individuals. Two papers now identify gain-of-function mutations in the Ras nucleotide exchange factor SOS1 as a new player in this common developmental disorder.
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References
Roberts, A, et al. Nat. Genet. 39, 70–74 (2007).
Tartaglia, M, et al. Nat. Genet. 39, 75–79 (2007).
Bentires-Alj, M., Kontaridis, M.I. & Neel, B.G. Nat. Med. 12, 283–285 (2006).
Donovan, S., Shannon, K.M. & Bollag, G. Biochim. Biophys. Acta 1602, 23–45 (2002).
Margarit, S.M. et al. Cell 112, 685–695 (2003).
Cichowski, K. & Jacks, T. Cell 104, 593–604 (2001).
Tartaglia, M. et al. Nat. Genet. 29, 465–468 (2001).
Neel, B.G., Gu, H. & Pao, L. Trends Biochem. Sci. 28, 284–293 (2003).
Keilhack, H., David, F.S., McGregor, M., Cantley, L.C. & Neel, B.G. J. Biol. Chem. 280, 30984–30993 (2005).
Schubbert, S. et al. Nat. Genet. 38, 331–336 (2006).
Aoki, Y. et al. Nat. Genet. 37, 1038–1040 (2005).
Niihori, T. et al. Nat. Genet. 38, 294–296 (2006).
Rodriguez-Viciana, P. et al. Science 311, 1287–1290 (2006).
Kontaridis, M.I., Swanson, K.D., David, F.S., Barford, D. & Neel, B.G. J. Biol. Chem. 281, 6785–6792 (2006).
Lauchle, J.O., Braun, B.S., Loh, M.L. & Shannon, K. Pediatr. Blood Cancer 46, 579–585 (2006).
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Shannon, K., Bollag, G. Sending out an SOS. Nat Genet 39, 8–9 (2007). https://doi.org/10.1038/ng0107-8
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DOI: https://doi.org/10.1038/ng0107-8
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