Article
Deficiency and overexpression of Rtl1 in the mouse cause distinct muscle abnormalities related to Temple and Kagami-Ogata syndromes.
Development (Cambridge, England) - 2 Sept 2020
Kitazawa Moe, Hayashi Shinichiro, Imamura Michihiro, Takeda Shin'ichi, Oishi Yumiko, Kaneko-Ishino Tomoko, Ishino Fumitoshi
Abstract excerpt
Temple and Kagami-Ogata syndromes are genomic imprinting diseases caused by maternal and paternal duplication of human chromosome 14, respectively. They exhibit different postnatal muscle-related symptoms as well as prenatal placental problems. Using the mouse models for these syndromes, it has been demonstrated that retrotransposon gag like 1 [Rtl1, also known as paternally expressed 11 (Peg11)] located in the...
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