Germline gain-of-function mutations in SOS1 cause Noonan syndrome-Reference-Cited by-同舟云学术

Germline gain-of-function mutations in SOS1 cause Noonan syndrome

Published:2006-12-03 Issue:1 Volume:39 Page:70-74
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Roberts Amy E,Araki Toshiyuki,Swanson Kenneth D,Montgomery Kate T,Schiripo Taryn A,Joshi Victoria A,Li Li,Yassin Yosuf,Tamburino Alex M,Neel Benjamin G,Kucherlapati Raju S

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1926.pdf

Reference23 articles.

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2. Neel, B.G., Gu, H. & Pao, L. The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem. Sci. 28, 284–293 (2003).

3. Fragale, A., Tartaglia, M., Wu, J. & Gelb, B.D. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum. Mutat. 23, 267–277 (2004).

4. Kontaridis, M.I., Swanson, K.D., David, F.S., Barford, D. & Neel, B.G. PTPN11 (SHP2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J. Biol. Chem. 281, 6785–6792 (2005).

5. Araki, T. et al. Mouse model of Noonan syndrome reveals cell type- and gene-dosage dependent effects of Ptpn11 mutation. Nat. Med. 10, 849–857 (2004).

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