Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
By B. Pandit, A. Sarkozy, Len A. Pennacchio, C. Carta, Kimihiko Oishi, S. Martinelli, E. Pogna, Wendy S. Schackwitz, Anna Ustaszewska, Andrew P. Landstrom and 19 more. Nature Genetics, 2007
671 citations recorded by the source corpus.
Subfields: Immunology, Molecular Biology, Oncology
View Paper: https://www.semanticscholar.org/paper/bec7e9ff2d7b52c93ee92908f4580f33d184979d
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In Molecular Biology
- Toby J. Gibson
- Francesca Diella
- Aidan Budd
- Allegra Via
- Claudia Chica
- Holger Dinkel
- Tobias Schmidt
- Yibin Wang
Citations in the corpus
- Mitogen-activated protein kinase signaling in the heart: angels versus demons in a heart-breaking tale. (2010, background): “In addition to Shp2, mutations in other components of the Ras signaling pathway including K-Ras (63, 302, 363), Sos1 (343), and Raf1 (315, 334) are also found in cases of Noonan syndrome.”
- ELM—the database of eukaryotic linear motifs (2011, background): “The developmental disorder ‘Noonan Syndrome’ can be caused by mutations in Raf-1 that abrogate the interaction with 14-3-3 proteins mediated by corresponding SLiMs and thereby deregulate the Raf-1 kinase activity (30) (the Raf-1 protein sequence features two LIG_14-3-3_1 binding sites that are annot”