NIH R01 · 2025
Functional Characterization of Genetic Variants in Rare Disease Associated with Shoc2 scaffold
Summary Mutations in the Shoc2 gene result in a developmental disorder called Noonan syndrome with loose anagen hair (NSLH), a condition affecting craniofacial features, the heart, the digestive system, and neural development. The Shoc2 is essential for transmitting the ERK1/2 cascade signals that control the morphogenesis of neural crest-derived tissues. Shoc2 forms intricate protein complexes to amplify intracellular signals, regulate the distribution of signaling proteins, and control gene expression programs during cell lineage specification. This application is led by the notion that functional analyses of different Shoc2 variants of unknown significance identified in patients with…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.