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  • Title: Deregulated Ras signaling in developmental disorders: new tricks for an old dog.
    Author: Schubbert S, Bollag G, Shannon K.
    Journal: Curr Opin Genet Dev; 2007 Feb; 17(1):15-22. PubMed ID: 17208427.
    Abstract:
    Ras proteins regulate cell proliferation, survival and differentiation and are constitutively activated by somatic point mutations in many cancers. Previous studies of neurofibromatosis type 1 and Noonan syndrome also implicated hyperactive Ras in developmental disorders. Recently, germline mutations in H-RAS and K-RAS and in genes encoding other molecules in the Ras-Raf-MEK-ERK cascade were shown to underlie cases of Noonan, cardio-facio-cutaneous, and Costello syndromes. These disorders share phenotypic traits that include abnormal facial features, heart defects, and impaired growth and development. Many of these germline, disease-associated mutations encode novel Ras, Raf and MEK proteins. These studies underscore a crucial role of Ras signaling in human development.
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