PMC Links for Protein (Select 597709777) - PMC

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Items: 5

Select item 64342911.

The Clinical and Vascular Characteristics of RNF213 c.14576G>A Variant-Related Intracranial Major Artery Disease in China

Weiyang Cheng, Sufang Xue, Fang Wu, Xiaowei Song, Qiang Huang, Haiqing Song, Jian Wu

Behav Neurol. 2019; 2019: 7908392. Published online 2019 Mar 12. doi: 10.1155/2019/7908392

PMCID:: PMC6434291

Abstract Article PDF–1.1M

Select item 31405172.

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

Wanyang Liu, Daisuke Morito, Seiji Takashima, Yohei Mineharu, Hatasu Kobayashi, Toshiaki Hitomi, Hirokuni Hashikata, Norio Matsuura, Satoru Yamazaki, Atsushi Toyoda, Ken-ichiro Kikuta, Yasushi Takagi, Kouji H. Harada, Asao Fujiyama, Roman Herzig, Boris Krischek, Liping Zou, Jeong Eun Kim, Masafumi Kitakaze, Susumu Miyamoto, Kazuhiro Nagata, Nobuo Hashimoto, Akio Koizumi

PLoS One. 2011; 6(7): e22542. Published online 2011 Jul 20. doi: 10.1371/journal.pone.0022542

PMCID:: PMC3140517

Abstract Article PDF–1.5M

Select item 68045213.

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

Andrey N. Gagunashvili, Louise Ocaka, Daniel Kelberman, Pinki Munot, Chiara Bacchelli, Philip L. Beales, Vijeya Ganesan

Hum Genome Var. 2019; 6: 35. Published online 2019 Aug 8. doi: 10.1038/s41439-019-0066-6

PMCID:: PMC6804521

Abstract Article PDF–602K

Select item 55671584.

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

Stéphanie Guey, Markus Kraemer, Dominique Hervé, Thomas Ludwig, Manoëlle Kossorotoff, Françoise Bergametti, Jan Claudius Schwitalla, Simone Choi, Lucile Broseus, Isabelle Callebaut, Emmanuelle Genin, Elisabeth Tournier-Lasserve, the FREX consortium

Eur J Hum Genet. 2017 Aug; 25(8): 995–1003. Published online 2017 Jun 21. doi: 10.1038/ejhg.2017.92

PMCID:: PMC5567158

Abstract Article PDF–1.3M

Select item 50979465.

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

Sirui Zhou, Amirthagowri Ambalavanan, Daniel Rochefort, Pingxing Xie, Cynthia V. Bourassa, Pascale Hince, Alexandre Dionne-Laporte, Dan Spiegelman, Ziv Gan-Or, Cathy Mirarchi, Vessela Zaharieva, Nicolas Dupré, Hatasu Kobayashi, Toshiaki Hitomi, Kouji Harada, Akio Koizumi, Lan Xiong, Patrick A. Dion, Guy A. Rouleau

Am J Hum Genet. 2016 Nov 3; 99(5): 1072–1085. Published online 2016 Oct 13. doi: 10.1016/j.ajhg.2016.09.001