| 1 | RNF213
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| RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.
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| Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupré N, Kobayashi H, Hitomi T, Harada K, Koizumi A, Xiong L, Dion PA, Rouleau GA.
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| Am J Hum Genet 99(5):1072-1085. doi: 10.1016/j.ajhg.2016.09.001.
2016
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| 2 | CAV1, RNF213
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| Caveolin-1, Ring finger protein 213, and endothelial function in Moyamoya disease.
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| Bang OY, Chung JW, Kim SJ, Oh MJ, Kim SY, Cho YH, Cha J, Yeon JY, Kim KH, Kim GM, Chung CS, Lee KH, Ki CS, Jeon P, Kim JS, Hong SC, Moon GJ.
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| Int J Stroke 11(9):999-1008.
2016
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| 3 | PTPN1, RNF213
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| PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia.
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| Banh RS, Iorio C, Marcotte R, Xu Y, Cojocari D, Rahman AA, Pawling J, Zhang W, Sinha A, Rose CM, Isasa M, Zhang S, Wu R, Virtanen C, Hitomi T, Habu T, Sidhu SS, Koizumi A, Wilkins SE, Kislinger T, Gygi SP, Schofield CJ, Dennis JW, Wouters BG, Neel BG.
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| Nat Cell Biol 18(7):803-13. doi: 10.1038/ncb3376.
2016
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| 4 | RNF213
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| Transient middle cerebral artery occlusion in mice induces neuronal expression of RNF213, a susceptibility gene for moyamoya disease.
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| Sato-Maeda M, Fujimura M, Kanoke A, Morita-Fujimura Y, Niizuma K, Tominaga T.
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| Brain Res 1630:50-5. doi: 10.1016/j.brainres.2015.10.055.
2016
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| 5 | RNF213
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| Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo.
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| Kobayashi H, Matsuda Y, Hitomi T, Okuda H, Shioi H, Matsuda T, Imai H, Sone M, Taura D, Harada KH, Habu T, Takagi Y, Miyamoto S, Koizumi A.
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| J Am Heart Assoc 4(7). pii: e002146. doi: 10.1161/JAHA.115.002146.
2015
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| 6 | MMP9, RNF213
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| Increased vascular MMP-9 in mice lacking RNF213: moyamoya disease susceptibility gene.
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| Sonobe S, Fujimura M, Niizuma K, Fujimura T, Furudate S, Nishijima Y, Kure S, Tominaga T.
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| Neuroreport 25(18):1442-6. doi: 10.1097/WNR.0000000000000289.
2014
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| 7 | RNF213
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| Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state.
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| Morito D, Nishikawa K, Hoseki J, Kitamura A, Kotani Y, Kiso K, Kinjo M, Fujiyoshi Y, Nagata K.
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| Sci Rep 4:4442. doi: 10.1038/srep04442.
2014
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| 8 | MYMY2, RNF213
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| The moyamoya disease susceptibility variant RNF213 R4810K (rs112735431) induces genomic instability by mitotic abnormality.
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| Hitomi T, Habu T, Kobayashi H, Okuda H, Harada KH, Osafune K, Taura D, Sone M, Asaka I, Ameku T, Watanabe A, Kasahara T, Sudo T, Shiota F, Hashikata H, Takagi Y, Morito D, Miyamoto S, Nakao K, Koizumi A.
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| Biochem Biophys Res Commun 439(4):419-26. doi: 10.1016/j.bbrc.2013.08.067. Epub 2013 Aug 27. 2013
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| 9 | RNF213
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| Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis/occlusion.
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| Miyawaki S, Imai H, Shimizu M, Yagi S, Ono H, Mukasa A, Nakatomi H, Shimizu T, Saito N.
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| Stroke 44(10):2894-7. doi: 10.1161/STROKEAHA.113.002477.
2013
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| 10 | RNF213
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| Ablation of Rnf213 retards progression of diabetes in the Akita mouse.
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| Kobayashi H, Yamazaki S, Takashima S, Liu W, Okuda H, Yan J, Fujii Y, Hitomi T, Harada KH, Habu T, Koizumi A.
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| Biochem Biophys Res Commun 432(3):519-25. doi: 10.1016/j.bbrc.2013.02.015.
2013
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| 11 | MYMY2, RNF213
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| Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.
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| Miyatake S, Touho H, Miyake N, Ohba C, Doi H, Saitsu H, Taguri M, Morita S, Matsumoto N.
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| J Hum Genet 57(12):804-6. doi: 10.1038/jhg.2012.105. Epub 2012 Aug 30.
2012
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| 12 | MYMY2, RNF213
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| Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development.
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| Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, Hashikata H, Matsuura N, Yamazaki S, Toyoda A, Kikuta K, Takagi Y, Harada KH, Fujiyama A, Herzig R, Krischek B, Zou L, Kim JE, Kitakaze M, Miyamoto S, Nagata K, Hashimoto N, Koizumi A.
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| PLoS One 6(7):e22542. Epub 2011 Jul 20. 2011
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| 13 | MYMY2, RNF213
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| A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.
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| Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S.
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| J Hum Genet 56(1):34-40. Epub 2010 Nov 4. 2011
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| 14 | RNF213
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| RNF213, a new nuclear marker for acanthomorph phylogeny.
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| Li B, Dettaï A, Cruaud C, Couloux A, Desoutter-Meniger M, Lecointre G.
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| Mol Phylogenet Evol 50(2):345-63. Epub 2008 Nov 27.
2009
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| 15 | C17orf51, CPSF4L, FAM83G, RNF213
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| DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
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| Zody MC, Garber M, Adams DJ, Sharpe T, Harrow J, Lupski JR, Nicholson C, Searle SM, Wilming L, Young SK, Abouelleil A, Allen NR, Bi W, Bloom T, Borowsky ML, Bugalter BE, Butler J, Chang JL, Chen CK, Cook A, Corum B, Cuomo CA, de Jong PJ, DeCaprio D, Dewar K, FitzGerald M, Gilbert J, Gibson R, Gnerre S, Goldstein S, Grafham DV, Grocock R, Hafez N, Hagopian DS, Hart E, Norman CH, Humphray S, Jaffe DB, Jones M, Kamal M, Khodiyar VK, LaButti K, Laird G, Lehoczky J, Liu X, Lokyitsang T, Loveland J, Lui A, Macdonald P, Major JE, Matthews L, Mauceli E, McCarroll SA, Mihalev AH, Mudge J, Nguyen C, Nicol R, O'Leary SB, Osoegawa K, Schwartz DC, Shaw-Smith C, Stankiewicz P, Steward C, Swarbreck D, Venkataraman V, Whittaker CA, Yang X, Zimmer AR, Bradley A, Hubbard T, Birren BW, Rogers J, Lander ES, Nusbaum C.
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| Nature 440(7087):1045-9. 2006
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| 16 | ALK, ATIC, CLTC, MSN, MYH9, RNF213, TFG, TPM3, TPM4
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| Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma.
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| Lamant L, Gascoyne RD, Duplantier MM, Armstrong F, Raghab A, Chhanabhai M, Rajcan-Separovic E, Raghab J, Delsol G, Espinos E.
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| Genes Chromosomes Cancer 37(4):427-32. 2003
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| 17 | ALCL, ALK, CARS, IMT, RNF213
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| Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.
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| Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P.
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| Genes Chromosomes Cancer 34(4):354-62. 2002
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| 18 | ANKRD36B, BCOR, BEND3, CACHD1, CHD8, CNNM4, DDX55, DHTKD1, EIF2C4, EPB41L5, EPG5, FAM160B1, GBA2, GPAM, GPR107, HERC4, KIAA1586, KIAA1609, KIF16B, MAGEE1, MAGI3, MED12L, MED12L, METTL14, MIER1, MOV10, NCKAP5L, NCOA5, PCDHB16, RNF213, SEMA4G, SFMBT2, SMURF1, TNRC6C, TRPM3, USP37, VAT1L, WDFY4, WDR19, WNK3, ZBTB26, ZNF532, ZPR1 ZNF319, ZSWIM5, ZSWIM6
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| Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| Nagase T, Kikuno R, Nakayama M, Hirosawa M, Ohara O.
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| DNA Res 7(4):273-81. 2000
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