Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Published:2007-07-01 Issue:8 Volume:39 Page:1007-1012
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Pandit Bhaswati,Sarkozy Anna,Pennacchio Len A,Carta Claudio,Oishi Kimihiko,Martinelli Simone,Pogna Edgar A,Schackwitz Wendy,Ustaszewska Anna,Landstrom Andrew,Bos J Martijn,Ommen Steve R,Esposito Giorgia,Lepri Francesca,Faul Christian,Mundel Peter,López Siguero Juan P,Tenconi Romano,Selicorni Angelo,Rossi Cesare,Mazzanti Laura,Torrente Isabella,Marino Bruno,Digilio Maria C,Zampino Giuseppe,Ackerman Michael J,Dallapiccola Bruno,Tartaglia Marco,Gelb Bruce D

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng2073.pdf

Reference30 articles.

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2. 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 (2006).

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

4. Tartaglia, M. et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29, 465–468 (2001).

5. Roberts, A.E. et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat. Genet. 39, 70–74 (2007).

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