Article
K-RasV14I recapitulates Noonan syndrome in mice.
Proceedings of the National Academy of Sciences of the United States of America - 18 Nov 2014
Hernández-Porras Isabel, Fabbiano Salvatore, Schuhmacher Alberto J, Aicher Alexandra, Cañamero Marta, Cámara Juan Antonio, Cussó Lorena, Desco Manuel, Heeschen Christopher, Mulero Francisca, Bustelo Xosé R, Guerra Carmen, Barbacid Mariano
Abstract excerpt
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...
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