{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T13:39:16Z","timestamp":1792157956762,"version":"4.4.0"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:sec>\n            <jats:title>Background and Purpose\u2014<\/jats:title>\n            <jats:p>The c.14576G&gt;A variant in ring finger protein 213 (RNF213) was recently identified as a susceptibility gene variant for moyamoya disease (MMD). The occurrence of c.14576G&gt;A variant was evaluated in patients with intracranial major artery stenosis\/occlusion (ICASO) without signs of MMD (non-MMD ICASO), as well as in patients with MMD and other cerebrovascular diseases as controls.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods\u2014<\/jats:title>\n            <jats:p>This single-hospital\u2013based case-control study was completed in 7 months (from October 2011\u2013April 2012) at Department of Neurosurgery, The University of Tokyo Hospital. The occurrence of c.14576G&gt;A variant was analyzed in 41 patients with non-MMD ICASO, in 48 with MMD, in 21 with cervical disease, in 61 with cerebral aneurysm, and in 25 normal subjects.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results\u2014<\/jats:title>\n            <jats:p>Nine of 41 patients (21.9%) with non-MMD ICASO and 41 of 48 (85.4%) with MMD had the c.14576G&gt;A variant. One of 61 patients (1.6%) with cerebral aneurysm and no patients with cervical disease or normal subjects had the variant. Comparison of each phenotype group with the normal subjects showed that presence of c.14576G&gt;A variant had significant associations with MMD (odds ratio [OR], 292.8; 95% confidence interval [CI], 15.4\u20135153.0; P&lt;0.0001) and with non-MMD ICASO (OR, 14.9; 95% CI, 0.82\u2013268.4; P=0.01), but no association with either cerebral aneurysm (OR, 1.2; 95% CI, 0.04\u201332.0; P=1.00) or cervical disease (OR, 1.1; 95% CI, 0.02\u201362.3; P=1.00).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>The present study indicates that a particular subset of Japanese patients with non-MMD ICASO has a genetic variant associated with MMD. Therefore, we propose the existence of a new entity of ICASO caused by the c.14576G&gt;A variant in RNF213.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/strokeaha.112.663864","type":"journal-article","created":{"date-parts":[[2012,9,26]],"date-time":"2012-09-26T15:13:36Z","timestamp":1348672416000},"page":"3371-3374","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":135,"title":["Identification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis\/Occlusion"],"prefix":"10.1161","volume":"43","author":[{"given":"Satoru","family":"Miyawaki","sequence":"first","affiliation":[{"name":"From Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideaki","family":"Imai","sequence":"additional","affiliation":[{"name":"From Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunsaku","family":"Takayanagi","sequence":"additional","affiliation":[{"name":"From Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akitake","family":"Mukasa","sequence":"additional","affiliation":[{"name":"From Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Nakatomi","sequence":"additional","affiliation":[{"name":"From Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhito","family":"Saito","sequence":"additional","affiliation":[{"name":"From Department of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo, Japan."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318249f71f"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022542"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.132"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.78.101807.093809"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-440X(02)00388-3"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000089359"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0303-8467(97)00082-6"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.17.4.648"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.110.597278"}],"updated-by":[{"DOI":"10.1161\/str.0b013e318277efca","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000}}],"container-title":["Stroke"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/STROKEAHA.112.663864","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T14:29:13Z","timestamp":1715610553000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/STROKEAHA.112.663864"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":9,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1161\/STROKEAHA.112.663864"],"URL":"https:\/\/doi.org\/10.1161\/strokeaha.112.663864","relation":{"correction":[{"id-type":"doi","id":"10.1161\/STR.0b013e318277efca","asserted-by":"object"}]},"ISSN":["0039-2499","1524-4628"],"issn-type":[{"value":"0039-2499","type":"print"},{"value":"1524-4628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12]]},"assertion":[{"value":"2012-05-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-08-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-09-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}