Article
Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
Nature - 25 Sept 2014
Yamashita Akihiro, Morioka Miho, Kishi Hiromi, Kimura Takeshi, Yahara Yasuhito, Okada Minoru, Fujita Kaori, Sawai Hideaki, Ikegawa Shiro, Tsumaki Noriyuki
Abstract excerpt
Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in skeletal dysplasias, such as thanatophoric dysplasia and achondroplasia (ACH). The lack of disease models using human cells has hampered the identification of a clinically effective treatment for these diseases. Here we show that statin treatment can rescue patient-specific induced pluripotent stem cell (iPSC) models and...
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