Article
Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome.
Human molecular genetics - 1 Feb 2019
Jang HyeIn, Oakley Erin, Forbes-Osborne Marie, Kesler Melissa V, Norcross Rebecca, Morris Ann C, Galperin Emilia
Abstract excerpt
The extracellular signal-related kinase 1 and 2 (ERK1/2) pathway is a highly conserved signaling cascade with numerous essential functions in development. The scaffold protein Shoc2 amplifies the activity of the ERK1/2 pathway and is an essential modulator of a variety of signaling inputs. Germline mutations in Shoc2 are associated with the human developmental disease known as the Noonan-like syndrome with loose...
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