Article
Divergent effects of intrinsically active MEK variants on developmental Ras signaling.
Nature genetics - 1 Mar 2017
Goyal Yogesh, Jindal Granton A, Pelliccia José L, Yamaya Kei, Yeung Eyan, Futran Alan S, Burdine Rebecca D, Schüpbach Trudi, Shvartsman Stanislav Y
Abstract excerpt
Germline mutations in Ras pathway components are associated with a large class of human developmental abnormalities, known as RASopathies, that are characterized by a range of structural and functional phenotypes, including cardiac defects and neurocognitive delays. Although it is generally believed that RASopathies are caused by altered levels of pathway activation, the signaling changes in developing tissues...
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