K-RasV14I recapitulates Noonan syndrome in mice.

@article{HernndezPorras2014KRasV14IRN,
  title={K-RasV14I recapitulates Noonan syndrome in mice.},
  author={Isabel Hern{\'a}ndez-Porras and Salvatore Fabbiano and Alberto J. Schuhmacher and Alexandra Aicher and Marta Ca{\~n}amero and Juan Antonio C{\'a}mara and Lorena Cuss{\'o} and Manuel Desco and Christopher Heeschen and Francisca Mulero and Xos{\'e} R Bustelo and Carmen Guerra and Mariano Barbacid},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2014},
  volume={111 46},
  pages={16395-400}
}
Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, craniofacial dysmorphism, and congenital heart defects. NS also is associated with a risk for developing myeloproliferative disorders (MPD), including juvenile myelomonocytic leukemia (JMML). Mutations responsible for NS occur in at least 11 different loci including KRAS. Here we describe a mouse model for NS induced by K-Ras(V14I), a recurrent KRAS mutation in NS patients. K-Ras(V14I)-mutant mice… CONTINUE READING
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