{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:06:56Z","timestamp":1791295616141,"version":"4.1.0"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100008130","name":"Pusan National University Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008130","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","jns-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Neurological Sciences"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1016\/j.jns.2017.02.033","type":"journal-article","created":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T09:45:30Z","timestamp":1487238330000},"page":"331-334","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"special_numbering":"C","title":["RNF213 rs112735431 polymorphism in intracranial artery steno-occlusive disease and moyamoya disease in Koreans"],"prefix":"10.1016","volume":"375","author":[{"given":"Min-Gyu","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Hong","family":"Shin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sang Weon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae Rim","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung-Pil","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.jns.2017.02.033_bb0005","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1161\/01.STR.17.4.648","article-title":"Race, sex and occlusive cerebrovascular disease: a review","volume":"17","author":"Caplan","year":"1986","journal-title":"Stroke"},{"issue":"1","key":"10.1016\/j.jns.2017.02.033_bb0010","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1161\/01.STR.26.1.14","article-title":"Race-ethnicity and determinants of intracranial atherosclerotic cerebral infarction. The Northern Manhattan Stroke Study","volume":"26","author":"Sacco","year":"1995","journal-title":"Stroke"},{"issue":"22","key":"10.1016\/j.jns.2017.02.033_bb0015","doi-asserted-by":"crossref","first-page":"2063","DOI":"10.1212\/01.wnl.0000279338.18776.26","article-title":"Risk factor status and vascular events in patients with symptomatic intracranial stenosis","volume":"69","author":"Chaturvedi","year":"2007","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.jns.2017.02.033_bb0020","doi-asserted-by":"crossref","first-page":"225","DOI":"10.3988\/jcn.2006.2.4.225","article-title":"Subtyping of ischemic stroke based on vascular imaging: analysis of 1,167 acute, consecutive patients","volume":"2","author":"Kim","year":"2006","journal-title":"J. Clin. Neurol."},{"issue":"3","key":"10.1016\/j.jns.2017.02.033_bb0025","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1212\/WNL.50.3.812","article-title":"Intracranial stenosis in Chinese patients with acute stroke","volume":"50","author":"Wong","year":"1998","journal-title":"Neurology"},{"issue":"4","key":"10.1016\/j.jns.2017.02.033_bb0030","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/sj.jhh.1001371","article-title":"Ethnic differences in blood pressure and the prevalence of hypertension in England","volume":"16","author":"Lane","year":"2002","journal-title":"J. Hum. Hypertens."},{"issue":"6","key":"10.1016\/j.jns.2017.02.033_bb0035","doi-asserted-by":"crossref","first-page":"238","DOI":"10.5830\/CVJA-2013-043","article-title":"Gender and ethnic differences in the control of hyperlipidaemia and other vascular risk factors: insights from the CEntralised Pan-South African survey on tHE Under-treatment of hypercholeSterolaemia (CEPHEUS SA) study","volume":"24","author":"Rapeport","year":"2013","journal-title":"Cardiovasc. J. Afr."},{"issue":"1","key":"10.1016\/j.jns.2017.02.033_bb0040","doi-asserted-by":"crossref","first-page":"27","DOI":"10.5853\/jos.2014.16.1.27","article-title":"Intracranial atherosclerosis: current understanding and perspectives","volume":"16","author":"Bang","year":"2014","journal-title":"J. Stroke."},{"issue":"11","key":"10.1016\/j.jns.2017.02.033_bb0045","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1016\/S1474-4422(08)70240-0","article-title":"Moyamoya disease: current concepts and future perspectives","volume":"7","author":"Kuroda","year":"2008","journal-title":"Lancet Neurol."},{"issue":"3","key":"10.1016\/j.jns.2017.02.033_bb0050","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.clineuro.2009.11.009","article-title":"Epidemiological and clinical features of Moyamoya disease in Nanjing, China","volume":"112","author":"Miao","year":"2010","journal-title":"Clin. Neurol. Neurosurg."},{"issue":"2","key":"10.1016\/j.jns.2017.02.033_bb0055","doi-asserted-by":"crossref","first-page":"65","DOI":"10.5853\/jos.2014.16.2.65","article-title":"Genetics and biomarkers of moyamoya disease: significance of RNF213 as a susceptibility gene","volume":"16","author":"Fujimura","year":"2014","journal-title":"J. Stroke."},{"issue":"7","key":"10.1016\/j.jns.2017.02.033_bb0060","doi-asserted-by":"crossref","first-page":"e22542","DOI":"10.1371\/journal.pone.0022542","article-title":"Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development","volume":"6","author":"Liu","year":"2011","journal-title":"PLoS One"},{"issue":"11","key":"10.1016\/j.jns.2017.02.033_bb0065","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1212\/WNL.0b013e318249f71f","article-title":"Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease","volume":"78","author":"Miyatake","year":"2012","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.jns.2017.02.033_bb0070","doi-asserted-by":"crossref","first-page":"299","DOI":"10.2176\/nmc.52.299","article-title":"Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations","volume":"52","author":"Liu","year":"2012","journal-title":"Neurol. Med. Chir. (Tokyo)"},{"issue":"1","key":"10.1016\/j.jns.2017.02.033_bb0075","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/jhg.2010.132","article-title":"A genome-wide association study identifies RNF213 as the first Moyamoya disease gene","volume":"56","author":"Kamada","year":"2011","journal-title":"J. Hum. Genet."},{"issue":"1\u20132","key":"10.1016\/j.jns.2017.02.033_bb0080","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.jns.2015.04.019","article-title":"Mutation genotypes of RNF213 gene from moyamoya patients in Taiwan","volume":"353","author":"Lee","year":"2015","journal-title":"J. Neurol. Sci."},{"issue":"11","key":"10.1016\/j.jns.2017.02.033_bb0085","doi-asserted-by":"crossref","first-page":"3200","DOI":"10.1161\/STROKEAHA.114.006244","article-title":"RNF213 rare variants in an ethnically diverse population with Moyamoya disease","volume":"45","author":"Cecchi","year":"2014","journal-title":"Stroke"},{"issue":"12","key":"10.1016\/j.jns.2017.02.033_bb0090","doi-asserted-by":"crossref","first-page":"3371","DOI":"10.1161\/STROKEAHA.112.663864","article-title":"Identification of a genetic variant common to moyamoya disease and intracranial major artery stenosis\/occlusion","volume":"43","author":"Miyawaki","year":"2012","journal-title":"Stroke"},{"issue":"10","key":"10.1016\/j.jns.2017.02.033_bb0095","doi-asserted-by":"crossref","first-page":"2894","DOI":"10.1161\/STROKEAHA.113.002477","article-title":"Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis\/occlusion","volume":"44","author":"Miyawaki","year":"2013","journal-title":"Stroke"},{"issue":"6","key":"10.1016\/j.jns.2017.02.033_bb0100","doi-asserted-by":"crossref","first-page":"e0130663","DOI":"10.1371\/journal.pone.0130663","article-title":"Adult moyamoya disease: a burden of intracranial stenosis in east Asians?","volume":"10","author":"Bang","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.jns.2017.02.033_bb0105","doi-asserted-by":"crossref","first-page":"S238","DOI":"10.1016\/S0303-8467(97)00082-6","article-title":"Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis (\u2018moyamoya\u2019 disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan","volume":"99","author":"Fukui","year":"1997","journal-title":"Clin. Neurol. Neurosurg."},{"issue":"11","key":"10.1016\/j.jns.2017.02.033_bb0110","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1001\/jamaneurol.2014.1491","article-title":"Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study","volume":"71","author":"Naj","year":"2014","journal-title":"JAMA Neurol."},{"issue":"4","key":"10.1016\/j.jns.2017.02.033_bb0115","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1002\/ana.24335","article-title":"Polygenic risk of Parkinson disease is correlated with disease age at onset","volume":"77","author":"Escott-Price","year":"2015","journal-title":"Ann. Neurol."},{"issue":"1","key":"10.1016\/j.jns.2017.02.033_bb0120","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/ana.24306","article-title":"Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes","volume":"77","author":"Cady","year":"2015","journal-title":"Ann. Neurol."},{"issue":"2","key":"10.1016\/j.jns.2017.02.033_bb0125","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s12199-012-0299-1","article-title":"P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure","volume":"18","author":"Koizumi","year":"2013","journal-title":"Environ. Health. Prev. Med."},{"issue":"1","key":"10.1016\/j.jns.2017.02.033_bb0130","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1056\/NEJM199007053230105","article-title":"Abnormal endothelium-dependent vascular relaxation in patients with essential hypertension","volume":"323","author":"Panza","year":"1990","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.jns.2017.02.033_bb0135","doi-asserted-by":"crossref","first-page":"13191","DOI":"10.1038\/srep13191","article-title":"Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells","volume":"5","author":"Ohkubo","year":"2015","journal-title":"Sci. Report."},{"issue":"18","key":"10.1016\/j.jns.2017.02.033_bb0140","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1097\/WNR.0000000000000289","article-title":"Increased vascular MMP-9 in mice lacking RNF213: moyamoya disease susceptibility gene","volume":"25","author":"Sonobe","year":"2014","journal-title":"Neuroreport"},{"issue":"1","key":"10.1016\/j.jns.2017.02.033_bb0145","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.bbrc.2013.07.004","article-title":"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","volume":"438","author":"Hitomi","year":"2013","journal-title":"Biochem. Biophys. Res. Commun."}],"container-title":["Journal of the Neurological Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X17301302?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022510X17301302?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,4,4]],"date-time":"2021-04-04T23:26:54Z","timestamp":1617578814000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022510X17301302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":29,"alternative-id":["S0022510X17301302"],"URL":"https:\/\/doi.org\/10.1016\/j.jns.2017.02.033","relation":{},"ISSN":["0022-510X"],"issn-type":[{"value":"0022-510X","type":"print"}],"subject":[],"published":{"date-parts":[[2017,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"RNF213 rs112735431 polymorphism in intracranial artery steno-occlusive disease and moyamoya disease in Koreans","name":"articletitle","label":"Article Title"},{"value":"Journal of the Neurological Sciences","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jns.2017.02.033","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}