| http://purl.uniprot.org/citations/32954918 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32954918 | http://www.w3.org/2000/01/rdf-schema#comment | "Background RNF213 is a major susceptibility gene for moyamoya disease (MMD), characterized by chronic progressive steno-occlusion of the intracranial arteries. However, coincidental extracranial arteriopathy is sporadically described in a few cases and in children with MMD. Methods and Results This study prospectively enrolled 63 young adults (aged 20-49 years) without a known history of systemic vascular diseases who were confirmed to have definite (bilateral, n=54) or probable (unilateral, n=9) MMD, as per typical angiographic findings. Coronary and aorta computed tomography angiography was performed to characterize extracranial arteriopathy and investigate its correlation with clinical characteristics and MMD status, including the RNF213 p.Arg4810Lys variation (c.14429G>A, rs112735431). Altogether, 11 of 63 patients (17%) had significant (>50%) stenosis in the coronary (n=6), superior mesenteric (n=2), celiac (n=2), renal (n=1), and/or internal iliac artery (n=1). One patient showed both mesenteric and iliac artery stenosis. Patients with extracranial arteriopathy were more likely to have diabetes mellitus and posterior cerebral artery involvement. Moreover, a higher prevalence of extracranial arteriopathy was observed in the presence of the RNF213 p.Arg4810Lys variant (67% in homozygotes). After controlling for diabetes mellitus and posterior cerebral artery involvement, the p.Arg4810Lys variant was independently associated with extracranial arteriopathy (additive model; P=0.035; adjusted odds ratio, 4.57; 95% CI, 1.11-27.20). Conclusions Young adults with MMD may have concomitant extracranial arteriopathy in various locations. Patients with RNF213 variants, especially the p.Arg4810Lys homozygous variant, should be screened for systemic arteriopathy."xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.org/dc/terms/identifier | "doi:10.1161/jaha.120.016670"xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/author | "Kim S.M."xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/author | "Kim J.S."xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/author | "Hong S.C."xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/author | "Bang O.Y."xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/author | "Yeon J.Y."xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/author | "Jee T.K."xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/name | "J Am Heart Assoc"xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/pages | "e016670"xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/title | "Prospective Screening of Extracranial Systemic Arteriopathy in Young Adults with Moyamoya Disease."xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/32954918 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/32954918 |
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