Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack
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DOI: 10.1136/svn-2022-002276
Abstract: Background and purpose The ring finger protein 213 gene (RNF213) p.R4810K variant increased the risk of acute ischaemic stroke (AIS) attributable to intracranial arterial stenosis (ICAS) in the Japanese and Korean populations. In this study,… read more here.
Keywords: rnf213 r4810k; r4810k variant; chinese patients; r4810k ... See more keywords
Filamin A Variant as a Possible Second-Hit Gene Promoting Moyamoya Disease–like Vascular Formation Associated With RNF213 p.R4810K Variant
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DOI: 10.1212/nxg.0000000000200017
Abstract: Background and Objective The objective of this case report was to identify a second-hit gene that may promote Moyamoya disease (MMD)–like vascular formation in an individual having the RNF213 p.R4810K variant. Methods We performed magnetic… read more here.
Keywords: vascular formation; rnf213 r4810k; like vascular; variant ... See more keywords
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis
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DOI: 10.1212/nxg.0000000000200029
Abstract: Background and Objectives Intracranial artery stenosis is the predominant etiology of ischemic stroke in the Asian population. Furthermore, the presence of the RNF213 p.R4810K variant, which is a susceptibility gene for moyamoya disease, increases the… read more here.
Keywords: intracranial artery; artery stenosis; rnf213 r4810k; progression ... See more keywords