{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T02:00:05Z","timestamp":1793412005883,"version":"4.5.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,11,4]],"date-time":"2010-11-04T00:00:00Z","timestamp":1288828800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2011,1]]},"DOI":"10.1038\/jhg.2010.132","type":"journal-article","created":{"date-parts":[[2010,11,4]],"date-time":"2010-11-04T07:23:34Z","timestamp":1288855414000},"page":"34-40","source":"Crossref","is-referenced-by-count":705,"title":["A genome-wide association study identifies RNF213 as the first Moyamoya disease gene"],"prefix":"10.1038","volume":"56","author":[{"given":"Fumiaki","family":"Kamada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Aoki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayumi","family":"Narisawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Abe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoko","family":"Komatsuzaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuo","family":"Kikuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junko","family":"Kanno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Niihori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masao","family":"Ono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoto","family":"Ishii","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuji","family":"Owada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miki","family":"Fujimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Mashimo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Hata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeru","family":"Tsuchiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teiji","family":"Tominaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoichi","family":"Matsubara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeo","family":"Kure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,11,4]]},"reference":[{"key":"BFjhg2010132_CR1","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1001\/archneur.1969.00480090076012","volume":"20","author":"J Suzuki","year":"1969","unstructured":"Suzuki, J. & Takaku, A. Cerebrovascular \u2018moyamoya\u2019 disease. Disease showing abnormal net-like vessels in base of brain. Arch. Neurol. 20, 288\u2013299 (1969).","journal-title":"Arch. Neurol."},{"key":"BFjhg2010132_CR2","volume-title":"Moyamoya Disease","author":"J Suzuki","year":"1983","unstructured":"Suzuki, J. Moyamoya Disease (Springer-Verlag: Berlin, 1983)."},{"key":"BFjhg2010132_CR3","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/978-4-431-99703-0_4","volume-title":"Moyamoya Disease Update","author":"K Oki","year":"2010","unstructured":"Oki, K., Hoshino, H. & Suzuki, N. In: Moyamoya Disease Update, (eds Cho B.K., Tominaga T.) 29\u201334 (Springer: New York, 2010)."},{"key":"BFjhg2010132_CR4","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1007\/978-4-431-99703-0_13","volume-title":"Moyamoya Disease Update","author":"JH Phi","year":"2010","unstructured":"Phi, J. H., Kim, S. K., Wang, K. C. & Cho, B. K. In: Moyamoya Disease Update, (eds Cho B.K., Tominaga T). 82\u201386, (Springer: New York, 2010)."},{"key":"BFjhg2010132_CR5","doi-asserted-by":"publisher","first-page":"1086","DOI":"10.1038\/jcbfm.2008.1","volume":"28","author":"T Yoshihara","year":"2008","unstructured":"Yoshihara, T., Taguchi, A., Matsuyama, T., Shimizu, Y., Kikuchi-Taura, A., Soma, T. et al. Increase in circulating CD34-positive cells in patients with angiographic evidence of moyamoya-like vessels. J. Cereb. Blood Flow Metab. 28, 1086\u20131089 (2008).","journal-title":"J. Cereb. Blood Flow Metab."},{"key":"BFjhg2010132_CR6","doi-asserted-by":"publisher","first-page":"E4","DOI":"10.3171\/2009.1.FOCUS08302","volume":"26","author":"AS Achrol","year":"2009","unstructured":"Achrol, A. S., Guzman, R., Lee, M. & Steinberg, G. K. Pathophysiology and genetic factors in moyamoya disease. Neurosurg. Focus. 26, E4 (2009).","journal-title":"Neurosurg. Focus."},{"key":"BFjhg2010132_CR7","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1056\/NEJMra0804622","volume":"360","author":"RM Scott","year":"2009","unstructured":"Scott, R. M. & Smith, E. R. Moyamoya disease and moyamoya syndrome.. N. Engl. J. Med. 360, 1226\u20131237 (2009).","journal-title":"N. Engl. J. Med."},{"key":"BFjhg2010132_CR8","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1007\/978-4-431-99703-0_6","volume-title":"Moyamoya Disease Update","author":"S Kure","year":"2010","unstructured":"Kure, S. In: Moyamoya Disease Update (eds Cho B.K., Tominaga T.) 41\u201345 (Springer: Tokyo, 2010)."},{"key":"BFjhg2010132_CR9","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1161\/STROKEAHA.107.490714","volume":"39","author":"S Kuriyama","year":"2008","unstructured":"Kuriyama, S., Kusaka, Y., Fujimura, M., Wakai, K., Tamakoshi, A., Hashimoto, S. et al. Prevalence and clinicoepidemiological features of moyamoya disease in Japan: findings from a nationwide epidemiological survey. Stroke. 39, 42\u201347 (2008).","journal-title":"Stroke."},{"key":"BFjhg2010132_CR10","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1007\/s10038-004-0143-6","volume":"49","author":"K Sakurai","year":"2004","unstructured":"Sakurai, K., Horiuchi, Y., Ikeda, H., Ikezaki, K., Yoshimoto, T., Fukui, M. et al. A novel susceptibility locus for moyamoya disease on chromosome 8q23. J. Hum. Genet. 49, 278\u2013281 (2004).","journal-title":"J. Hum. Genet."},{"key":"BFjhg2010132_CR11","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1007\/s00381-005-1230-5","volume":"22","author":"R Nanba","year":"2006","unstructured":"Nanba, R., Kuroda, S., Tada, M., Ishikawa, T., Houkin, K. & Iwasaki, Y. Clinical features of familial moyamoya disease. Childs. Nerv. Syst. 22, 258\u2013262 (2006).","journal-title":"Childs. Nerv. Syst."},{"key":"BFjhg2010132_CR12","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1086\/302243","volume":"64","author":"H Ikeda","year":"1999","unstructured":"Ikeda, H., Sasaki, T., Yoshimoto, T., Fukui, M. & Arinami, T. Mapping of a familial moyamoya disease gene to chromosome 3p24.2-p26. Am. J. Hum. Genet. 64, 533\u2013537 (1999).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg2010132_CR13","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1177\/088307380001500307","volume":"15","author":"TK Inoue","year":"2000","unstructured":"Inoue, T. K., Ikezaki, K., Sasazuki, T., Matsushima, T. & Fukui, M. Linkage analysis of moyamoya disease on chromosome 6. J. Child. Neurol. 15, 179\u2013182 (2000).","journal-title":"J. Child. Neurol."},{"key":"BFjhg2010132_CR14","doi-asserted-by":"publisher","first-page":"930","DOI":"10.1161\/01.STR.31.4.930","volume":"31","author":"T Yamauchi","year":"2000","unstructured":"Yamauchi, T., Tada, M., Houkin, K., Tanaka, T., Nakamura, Y., Kuroda, S. et al. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25.. Stroke. 31, 930\u2013935 (2000).","journal-title":"Stroke."},{"issue":"Suppl 2","key":"BFjhg2010132_CR15","doi-asserted-by":"publisher","first-page":"S1","DOI":"10.1016\/S0303-8467(97)00031-0","volume":"99","author":"K Wakai","year":"1997","unstructured":"Wakai, K., Tamakoshi, A., Ikezaki, K., Fukui, M., Kawamura, T., Aoki, R. et al. Epidemiological features of moyamoya disease in Japan: findings from a nationwide survey. Clin. Neurol. Neurosurg. 99 (Suppl 2), S1\u2013S5 (1997).","journal-title":"Clin. Neurol. Neurosurg."},{"key":"BFjhg2010132_CR16","doi-asserted-by":"publisher","first-page":"2357","DOI":"10.1212\/01.wnl.0000291012.49986.f9","volume":"70","author":"Y Mineharu","year":"2008","unstructured":"Mineharu, Y., Liu, W., Inoue, K., Matsuura, N., Inoue, S., Takenaka, K. et al. Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology. 70, 2357\u20132363 (2008).","journal-title":"Neurology."},{"key":"BFjhg2010132_CR17","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1007\/s12199-009-0116-7","volume":"15","author":"W Liu","year":"2010","unstructured":"Liu, W., Hashikata, H., Inoue, K., Matsuura, N., Mineharu, Y., Kobayashi, H. et al. A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians.. Environ. Health. Prev. Med. 15, 94\u2013104 (2010).","journal-title":"Environ. Health. Prev. Med."},{"key":"BFjhg2010132_CR18","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1016\/S0959-440X(02)00388-3","volume":"12","author":"AN Lupas","year":"2002","unstructured":"Lupas, A. N. & Martin, J. AAA proteins.. Curr. Opin. Struct. Biol. 12, 746\u2013753 (2002).","journal-title":"Curr. Opin. Struct. Biol."},{"key":"BFjhg2010132_CR19","first-page":"43","volume-title":"Moyamoya disease","author":"K Ikezaki","year":"2001","unstructured":"Ikezaki, K. In: Moyamoya disease (eds Ikezaki K., Loftus C. M.) 43\u201375 (Thieme: New York, 2001)."},{"key":"BFjhg2010132_CR20","doi-asserted-by":"publisher","first-page":"1358","DOI":"10.1161\/01.STR.22.11.1358","volume":"22","author":"E Ikeda","year":"1991","unstructured":"Ikeda, E. Systemic vascular changes in spontaneous occlusion of the circle of Willis. Stroke. 22, 1358\u20131362 (1991).","journal-title":"Stroke."},{"key":"BFjhg2010132_CR21","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1093\/cvr\/cvn081","volume":"78","author":"A Zampetaki","year":"2008","unstructured":"Zampetaki, A., Kirton, J. P. & Xu, Q. Vascular repair by endothelial progenitor cells. Cardiovasc. Res. 78, 413\u2013421 (2008).","journal-title":"Cardiovasc. Res."},{"key":"BFjhg2010132_CR22","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1161\/STROKEAHA.108.529420","volume":"40","author":"N Rafat","year":"2009","unstructured":"Rafat, N., Beck, G., Pena-Tapia, P. G., Schmiedek, P. & Vajkoczy, P. Increased levels of circulating endothelial progenitor cells in patients with Moyamoya disease. Stroke. 40, 432\u2013438 (2009).","journal-title":"Stroke."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg2010132.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2010132","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg2010132.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:26:49Z","timestamp":1684430809000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg2010132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,4]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["BFjhg2010132"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2010.132","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,4]]}}}