Litcius/Paper detail

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra, Stefania Boni, Laura Mazzanti, Federica Tamburrino, Larry Walsh, Katelyn Payne, Alberto Fernández‐Jaén, Mythily Ganapathi, Wendy K. Chung, Dorothy K. Grange, Ashita Dave‐Wala, Shalini C. Reshmi, Dennis W. Bartholomew, Danielle Mouhlas, Giovanna Carpentieri, Alessandro Bruselles, Simone Pizzi, Emanuele Bellacchio, Francesca Piceci‐Sparascio, Christina Lißewski, Julia Brinkmann, Ronald R. Waclaw, Quinten Waisfisz, Koen L.I. van Gassen, Ingrid M. Wentzensen, Michelle M. Morrow, Sara Álvarez, Mónica Mártinez‐García, Alessandro De Luca, Luigi Memo, Giuseppe Zampino, Cesare Rossi, Marco Seri, Bruce D. Gelb, Martin Zenker, Bruno Dallapiccola, Lorenzo Stella, Carlos E. Prada, Simone Martinelli, Elisabetta Flex, Marco Tartaglia

2020The American Journal of Human Genetics95 citationsDOIOpen Access PDF

Topics & Concepts

Costello syndromeNoonan syndromeMAPK/ERK pathwayBiologyPTPN11Signal transductionKinaseCarcinogenesisProtein kinase AMAPK cascadeMitogen-Activated Protein Kinase 3Mitogen-activated protein kinase kinaseMAPKAPK2GeneticsMAP kinase kinase kinaseCancer researchCell biologyGeneMutationKRASProtein Tyrosine PhosphatasesGalectins and Cancer BiologyPeptidase Inhibition and Analysis