Article
A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition.
The Journal of clinical investigation - 1 Jun 2008
Schuhmacher Alberto J, Guerra Carmen, Sauzeau Vincent, Cañamero Marta, Bustelo Xosé R, Barbacid Mariano
Abstract excerpt
Germline activation of H-RAS oncogenes is the primary cause of Costello syndrome (CS), a neuro-cardio-facio-cutaneous developmental syndrome. Here we describe the generation of a mouse model of CS by introduction of an oncogenic Gly12Val mutation in the mouse H-Ras locus using homologous recombination in ES cells. Germline expression of the endogenous H-RasG12V oncogene, even in homozygosis, resulted in...
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