Article
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects.
Disease models & mechanisms - 1 May 2011
Runtuwene Vincent, van Eekelen Mark, Overvoorde John, Rehmann Holger, Yntema Helger G, Nillesen Willy M, van Haeringen Arie, van der Burgt Ineke, Burgering Boudewijn, den Hertog Jeroen
Abstract excerpt
Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras-mitogen-activated-protein-kinase (MAPK) signaling pathway. Recently, two mutations in NRAS were reported to be associated with Noonan syndrome, T50I and G60E. Here, we report a mutation in NRAS, resulting in...
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