Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome.

Yoshiko MaedaWilliam E TidymanBradley P AnderCatrin A PritchardKatherine A Rauen

Published in: Developmental dynamics : an official publication of the American Association of Anatomists (2021)

A skeletal myopathy was identified in the CFC BrafL597V mouse validating the use of models to study the effect of Ras/MAPK dysregulation on skeletal myogenesis. RASopathies present a novel opportunity to identify new paradigms of myogenesis and further our understanding of Ras in development. Rescue of the phenotype by inhibitors may help advance the development of therapeutic options for RASopathy patients.

Keyphrases

signaling pathway
mouse model
end stage renal disease
oxidative stress
newly diagnosed
ejection fraction
peritoneal dialysis
patient reported outcomes
patient reported
duchenne muscular dystrophy