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Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations
A gain of function mutation in SHP2, a protein phosphatase encoded by PTPN11, causes Noonan syndrome (NS), which is characterized in part by developmental deficits in both the cardiac and skull fields. Previously, we found that expression of the mutated protein SHP2 Q79R in the heart led to a phenot...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2009
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2741269/ https://ncbi.nlm.nih.gov/pubmed/19706403 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0903302106 |
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