Article
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
American journal of human genetics - 3 Sept 2020
Motta Marialetizia, Pannone Luca, Pantaleoni Francesca, Bocchinfuso Gianfranco, Radio Francesca Clementina, Cecchetti Serena, Ciolfi Andrea, Di Rocco Martina, Elting Mariet W, Brilstra Eva H, Boni Stefania, Mazzanti Laura, Tamburrino Federica, Walsh Larry, Payne Katelyn, Fernández-Jaén Alberto, Ganapathi Mythily, Chung Wendy K, Grange Dorothy K, Dave-Wala Ashita, Reshmi Shalini C, Bartholomew Dennis W, Mouhlas Danielle, Carpentieri Giovanna, Bruselles Alessandro, Pizzi Simone, Bellacchio Emanuele, Piceci-Sparascio Francesca, Lißewski Christina, Brinkmann Julia, Waclaw Ronald R, Waisfisz Quinten, van Gassen Koen, Wentzensen Ingrid M, Morrow Michelle M, Álvarez Sara, Martínez-García Mónica, De Luca Alessandro, Memo Luigi, Zampino Giuseppe, Rossi Cesare, Seri Marco, Gelb Bruce D, Zenker Martin, Dallapiccola Bruno, Stella Lorenzo, Prada Carlos E, Martinelli Simone, Flex Elisabetta, Tartaglia Marco
Abstract excerpt
Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-associated protein kinase (MAPK) cascade, mediates multiple cellular processes and participates in early and late developmental programs. Aberrant signaling through this cascade contributes to oncogenesis and underlies the RASopathies, a family of cancer-prone disorders. Here, we report that de novo missense variants in MAPK1,...
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