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• W2895829813 abstract "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 anagen hair. Clinical manifestations of this disease include congenital heart defects, developmental delays, distinctive facial abnormalities, reduced growth and cognitive deficits along with hair anomalies. The many molecular details of pathogenesis of the Noonan-like syndrome and related developmental disorders, cumulatively called RASopathies, remain poorly understood. Mouse knockouts for Shoc2 are embryonic lethal, emphasizing the need for additional animal models to study the role of Shoc2 in embryonic development. Here, we characterize a zebrafish shoc2 mutant, and show that Shoc2 is essential for development, and that its loss is detrimental for the development of the neural crest and for hematopoiesis. The zebrafish model of the Noonan-like syndrome described here provides a novel system for the study of structure–function analyses and for genetic screens in a tractable vertebrate system." @default.
• W2895829813 created "2018-10-26" @default.
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• W2895829813 date "2018-10-16" @default.
• W2895829813 modified "2023-09-26" @default.
• W2895829813 title "Hematopoietic and neural crest defects in zebrafish<i>shoc2</i>mutants: a novel vertebrate model for Noonan-like syndrome" @default.
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• W2895829813 doi "https://doi.org/10.1093/hmg/ddy366" @default.
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