Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome-Reference-Cited by-同舟云学术

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Published:2006-12-03 Issue:1 Volume:39 Page:75-79
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Tartaglia Marco,Pennacchio Len A,Zhao Chen,Yadav Kamlesh K,Fodale Valentina,Sarkozy Anna,Pandit Bhaswati,Oishi Kimihiko,Martinelli Simone,Schackwitz Wendy,Ustaszewska Anna,Martin Joel,Bristow James,Carta Claudio,Lepri Francesca,Neri Cinzia,Vasta Isabella,Gibson Kate,Curry Cynthia J,Siguero Juan Pedro López,Digilio Maria Cristina,Zampino Giuseppe,Dallapiccola Bruno,Bar-Sagi Dafna,Gelb Bruce D

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1939.pdf

Reference28 articles.

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2. Carta, C. et al. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype. Am. J. Hum. Genet. 79, 129–135 (2006).

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. Schubbert, S. et al. Germline KRAS mutations cause Noonan syndrome. Nat. Genet. 38, 331–336 (2006).

5. Tartaglia, M. et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am. J. Hum. Genet. 70, 1555–1563 (2002).

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