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

By A. Roberts, T. Araki, K. Swanson, K. Montgomery, T. Schiripo, V. Joshi, Li Li, Yosuf A. Yassin, Alex M. Tamburino, B. Neel and 1 more. Nature Genetics, 2007

707 citations recorded by the source corpus.

Subfields: Immunology, Molecular Biology, Oncology

View Paper: https://www.semanticscholar.org/paper/a0c56ae2af14ec6b2c02ef8130edd82ffb0458f0

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In Immunology

1. C. Der

In Molecular Biology

1. C. Der
2. K. Rossman
3. J. Cherfils
4. M. McKay
5. DK Morrison
6. Yibin Wang
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In Oncology

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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.”
• Regulation of small GTPases by GEFs, GAPs, and GDIs. (2013, neutral): “velopmental disorder (112, 165, 253, 293) (see also sect.”
• GEFs and GAPs: critical elements in the control of small G proteins. (2007, background): “…in the Sos gene found in patients with Noonan syndrome (which causes abnormal development of multiple parts of the body) are located in regulatory regions of the molecule rather than the Cdc25-HD, supporting the regulatory role of these domains (Tartaglia et al., 2007; Roberts et al., 2007).”
• Ras superfamily GEFs and GAPs: validated and tractable targets for cancer therapy? (2010, background): “Germline gain-of-function mutation of the RasGEF SOS1 has been observed in 13% of patients with Noonan syndrome , a developmental disorder that is also associated with an increased risk of cance”
• Integrating signals from RTKs to ERK/MAPK (2007, background): “Significantly, mutations of Sos that disrupt its autoinhibition have recently been identified in patients with Noonan’s syndrome, a developmental disorder associated with dysregulation of the Ras/ERK pathway (Roberts et al., 2007; Tartaglia et al., 2007).”