期刊
CURRENT OPINION IN GENETICS & DEVELOPMENT
卷 17, 期 1, 页码 15-22出版社
CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2006.12.004
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资金
- NCI NIH HHS [R01 CA104282, R01 CA72614] Funding Source: Medline
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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