Article
The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
Biochemical and biophysical research communications - 4 Oct 2013
Hitomi Toshiaki, Habu Toshiyuki, Kobayashi Hatasu, Okuda Hiroko, Harada Kouji H, Osafune Kenji, Taura Daisuke, Sone Masakatsu, Asaka Isao, Ameku Tomonaga, Watanabe Akira, Kasahara Tomoko, Sudo Tomomi, Shiota Fumihiko, Hashikata Hirokuni, Takagi Yasushi, Morito Daisuke, Miyamoto Susumu, Nakao Kazuwa, Koizumi Akio
Abstract excerpt
Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the Circle of Willis. The RNF213 R4810K polymorphism increases susceptibility to MMD. In the present study, we characterized phenotypes caused by overexpression of RNF213 wild type and R4810K variant in the cell cycle to investigate the mechanism of proliferation inhibition. Overexpression of RNF213 R4810K in HeLa cells...
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