{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T05:26:36Z","timestamp":1768281996321,"version":"3.49.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2013,9,1]],"date-time":"2013-09-01T00:00:00Z","timestamp":1377993600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Natural Science Foundation of China (NSFC","award":["#81070922"],"award-info":[{"award-number":["#81070922"]}]},{"name":"Natural Science Foundation of China (NSFC","award":["#31200938"],"award-info":[{"award-number":["#31200938"]}]},{"DOI":"10.13039\/501100004608","name":"Jiangsu Natural Science Foundation","doi-asserted-by":"crossref","award":["BK2011021"],"award-info":[{"award-number":["BK2011021"]}],"id":[{"id":"10.13039\/501100004608","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2013,9]]},"DOI":"10.1016\/j.gene.2013.05.083","type":"journal-article","created":{"date-parts":[[2013,6,12]],"date-time":"2013-06-12T13:00:39Z","timestamp":1371042039000},"page":"437-442","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":51,"title":["Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects"],"prefix":"10.1016","volume":"526","author":[{"given":"Xiaomeng","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhizhong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhua","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunyun","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianjun","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongjun","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guanzhong","family":"Ni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenshan","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lulu","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wusheng","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinfeng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gelin","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2013.05.083_bb0005","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1146\/annurev.biochem.78.101807.093809","article-title":"RING domain E3 ubiquitin ligases","volume":"78","author":"Deshaies","year":"2009","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.gene.2013.05.083_bb0010","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1161\/STROKEAHA.111.621300","article-title":"Moyamoya disease in China: its clinical features and outcomes","volume":"43","author":"Duan","year":"2012","journal-title":"Stroke"},{"key":"10.1016\/j.gene.2013.05.083_bb0015","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/0197-2456(90)90005-M","article-title":"Power and sample size calculations. A review and computer program","volume":"11","author":"Dupont","year":"1990","journal-title":"Control. Clin. Trials"},{"key":"10.1016\/j.gene.2013.05.083_bb0020","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/s12013-010-9131-y","article-title":"The association of the metalloproteinase-3 gene promoter polymorphisms and the middle cerebral artery stenosis","volume":"59","author":"Fu","year":"2011","journal-title":"Cell Biochem. Biophys."},{"issue":"Suppl. 2","key":"10.1016\/j.gene.2013.05.083_bb0025","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."},{"key":"10.1016\/j.gene.2013.05.083_bb0030","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1097\/EDE.0b013e31818131e7","article-title":"Why most discovered true associations are inflated","volume":"19","author":"Ioannidis","year":"2008","journal-title":"Epidemiology"},{"key":"10.1016\/j.gene.2013.05.083_bb0035","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."},{"key":"10.1016\/j.gene.2013.05.083_bb0040","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1227\/01.NEU.0000215854.66011.4F","article-title":"Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial Moyamoya disease","volume":"58","author":"Kang","year":"2006","journal-title":"Neurosurgery"},{"key":"10.1016\/j.gene.2013.05.083_bb0045","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1136\/jnnp-2011-301387","article-title":"Regional differences in incidence and patient characteristics of Moyamoya disease: a systematic review","volume":"83","author":"Kleinloog","year":"2012","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.gene.2013.05.083_bb0050","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1161\/STROKEAHA.107.490714","article-title":"Prevalence and clinicoepidemiological features of Moyamoya disease in Japan: findings from a nationwide epidemiological survey","volume":"39","author":"Kuriyama","year":"2008","journal-title":"Stroke"},{"key":"10.1016\/j.gene.2013.05.083_bb0055","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."},{"key":"10.1016\/j.gene.2013.05.083_bb0060","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1159\/000319893","article-title":"Association of a functional polymorphism in the MMP-3 gene with Moyamoya disease in the Chinese Han population","volume":"30","author":"Li","year":"2010","journal-title":"Cerebrovasc. Dis."},{"key":"10.1016\/j.gene.2013.05.083_bb0065","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.gene.2011.12.025","article-title":"Genetic polymorphism of MMP family and coronary disease susceptibility: a meta-analysis","volume":"495","author":"Li","year":"2012","journal-title":"Gene"},{"key":"10.1016\/j.gene.2013.05.083_bb0075","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1007\/s12199-009-0116-7","article-title":"A rare Asian founder polymorphism of Raptor may explain the high prevalence of Moyamoya disease among East Asians and its low prevalence among Caucasians","volume":"15","author":"Liu","year":"2010","journal-title":"Environ. Health Prev. Med."},{"key":"10.1016\/j.gene.2013.05.083_bb0085","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"},{"key":"10.1016\/j.gene.2013.05.083_bb0090","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1016\/j.jocn.2010.05.032","article-title":"Evaluation of angiographic changes of the anterior choroidal and posterior communicating arteries for predicting cerebrovascular lesions in adult Moyamoya disease","volume":"18","author":"Liu","year":"2011","journal-title":"J. Clin. Neurosci."},{"key":"10.1016\/j.gene.2013.05.083_bb0070","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1016\/j.ejmg.2012.05.002","article-title":"Analysis of TGFB1 in European and Japanese Moyamoya disease patients","volume":"55","author":"Liu","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2013.05.083_bb0080","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)"},{"key":"10.1016\/j.gene.2013.05.083_bb0095","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."},{"key":"10.1016\/j.gene.2013.05.083_bb0100","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.gene.2007.08.011","article-title":"Transcriptional regulation of a new variant of human platelet-derived growth factor receptor alpha transcript by E2F-1","volume":"403","author":"Minato","year":"2007","journal-title":"Gene"},{"key":"10.1016\/j.gene.2013.05.083_bb0105","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"},{"key":"10.1016\/j.gene.2013.05.083_bb0110","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1038\/jhg.2012.105","article-title":"Sibling cases of Moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity","volume":"57","author":"Miyatake","year":"2012","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.083_bb0115","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"},{"key":"10.1016\/j.gene.2013.05.083_bb0120","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1111\/j.1468-1331.2011.03393.x","article-title":"Increased levels of circulating SDF-1alpha and CD34+ CXCR4+ cells in patients with Moyamoya disease","volume":"18","author":"Ni","year":"2011","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.gene.2013.05.083_bb0125","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1007\/s00381-011-1504-z","article-title":"Age-specific eNOS polymorphisms in Moyamoya disease","volume":"27","author":"Park","year":"2011","journal-title":"Childs Nerv. Syst."},{"key":"10.1016\/j.gene.2013.05.083_bb0130","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/jhg.2010.103","article-title":"Genetics of Moyamoya disease","volume":"55","author":"Roder","year":"2010","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2013.05.083_bb0135","doi-asserted-by":"crossref","first-page":"2153","DOI":"10.1007\/s00701-010-0711-9","article-title":"Polymorphisms in TGFB1 and PDGFRB are associated with Moyamoya disease in European patients","volume":"152","author":"Roder","year":"2010","journal-title":"Acta Neurochir. (Wien)"},{"key":"10.1016\/j.gene.2013.05.083_bb0140","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1056\/NEJMra0804622","article-title":"Moyamoya disease and Moyamoya syndrome","volume":"360","author":"Scott","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.gene.2013.05.083_bb0145","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1002\/elps.200405886","article-title":"Capillary and microelectrophoretic separations of ligase detection reaction products produced from low-abundant point mutations in genomic DNA","volume":"25","author":"Thomas","year":"2004","journal-title":"Electrophoresis"},{"key":"10.1016\/j.gene.2013.05.083_bb0150","doi-asserted-by":"crossref","first-page":"e48179","DOI":"10.1371\/journal.pone.0048179","article-title":"Molecular analysis of RNF213 gene for Moyamoya disease in the Chinese Han population","volume":"7","author":"Wu","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.gene.2013.05.083_bb0155","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/pd.2072","article-title":"PCR\/LDR\/capillary electrophoresis for detection of single-nucleotide differences between fetal and maternal DNA in maternal plasma","volume":"29","author":"Yi","year":"2009","journal-title":"Prenat. Diagn."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811191300752X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811191300752X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,15]],"date-time":"2018-10-15T10:20:48Z","timestamp":1539598848000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811191300752X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["S037811191300752X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2013.05.083","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2013,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Impacts and interactions of PDGFRB, MMP-3, TIMP-2, and RNF213 polymorphisms on the risk of Moyamoya disease in Han Chinese human subjects","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2013.05.083","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}