Article
Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.
Human molecular genetics - 20 Dec 2015
Moriya Mitsuji, Inoue Shin-Ichi, Miyagawa-Tomita Sachiko, Nakashima Yasumi, Oba Daiju, Niihori Tetsuya, Hashi Misato, Ohnishi Hiroshi, Kure Shigeo, Matsubara Yoichi, Aoki Yoko
Abstract excerpt
Activation of the RAS pathway has been implicated in oncogenesis and developmental disorders called RASopathies. Germline mutations in BRAF have been identified in 50-75% of patients with cardio-facio-cutaneous (CFC) syndrome, which is characterized by congenital heart defects, distinctive facial features, short stature and ectodermal abnormalities. We recently demonstrated that mice expressing a Braf Q241R...
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