Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients.

doi:10.1016/j.bbrc.2013.07.004

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Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients.

Biochemical and biophysical research communications - 16 Aug 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. Induced pluripotent stem cells (iPSCs) were established from unaffected fibroblast donors with wild-type RNF213 alleles, and from carriers/patients with one or two RNF213 R4810K alleles. Angiogenic activities of iPSC-derived vascular...

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PMID: 23850618
DOI: 10.1016/j.bbrc.2013.07.004

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