Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome.

@article{Nakamura2007MediatingE1,
  title={Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome.},
  author={Tomoki Nakamura and Melissa Colbert and Maike Krenz and Jeffery D Molkentin and Harvey S. Hahn and Gerald W. Dorn and Jeffrey Robbins},
  journal={The Journal of clinical investigation},
  year={2007},
  volume={117 8},
  pages={2123-32}
}
Noonan syndrome (NS) is an autosomal dominant disorder characterized by a wide spectrum of defects, which most frequently include proportionate short stature, craniofacial anomalies, and congenital heart disease (CHD). NS is the most common nonchromosomal cause of CHD, and 80%-90% of NS patients have cardiac involvement. Mutations within the protein tyrosine phosphatase Src homology region 2, phosphatase 2 (SHP2) are responsible for approximately 50% of the cases of NS with cardiac involvement… CONTINUE READING

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