Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy
Jing Chen, Lin Che, Chao Xu, Suzhou Zhao, Jiangfei Yang, Mengting Li, Guimei Li, Yiping Shen
Topics & Concepts
BiologyCostello syndromeMissense mutationMAPK/ERK pathwayAutophagyExonPhenotypeExome sequencingGeneticsMutationCancer researchExomeCell biologySignal transductionGeneKRASApoptosisProtein Tyrosine PhosphatasesRNA regulation and diseaseMelanoma and MAPK Pathways