Germline KRAS mutations cause Noonan syndrome

By Suzanne Schubbert, M. Zenker, Sara L. Rowe, Silke Böll, C. Klein, G. Bollag, I. Burgt, L. Musante, V. Kalscheuer, L. Wehner and 8 more. Nature Genetics, 2006

727 citations recorded by the source corpus.

Subfields: Immunology, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/88448affba875c9a22c0c790c444c50e7cd60c25

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In Immunology

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Citations in the corpus

• RAS oncogenes: weaving a tumorigenic web (2011, background): “In addition, germline mutations in KRAS and HRAS are associated with the acquisition of distinct developmental disorders ( KRAS is associated with Noonan syndrome and cardio-facio-cutaneous syndrome , and HRAS is associated with Costello syndrome”
• Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer (2007, background): “Recently, germline de novo mutational activation of H-Ras and K-Ras, B-Raf, as well as MEK1 and MEK2, has been found in patients that comprise a group of related developmental disorders (Costello, cardio–facio– cutaneous and Noonan’s syndromes) (Table 2), and suggests that aberrant ERK activation wi”
• Ras oncogenes: split personalities (2008, neutral): “These lesions are restricted to K- RAS and target residues Val14, Thr58, Val152, Asp153 and Phe156, all of which are thought to cause moderate upregulation of Ras activit”
• 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.”