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Moyamoya Disease and Spectrums of RNF213 Vasculopathy.
Bang OY, Chung JW, Kim DH, Won HH, Yeon JY, Ki CS, Shin HJ, Kim JS, Hong SC, Kim DK, Koizumi A. Bang OY, et al. Transl Stroke Res. 2020 Aug;11(4):580-589. doi: 10.1007/s12975-019-00743-6. Epub 2019 Oct 24. Transl Stroke Res. 2020. PMID: 31650369 Review.
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial arteries and a hazy network of basal collaterals called moyamoya vessels. ...In this review, we summarize the spectrums of RN …
Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by progressive stenosis of large intracranial ar …
Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.
Wu Z, Jiang H, Zhang L, Xu X, Zhang X, Kang Z, Song D, Zhang J, Guan M, Gu Y. Wu Z, et al. PLoS One. 2012;7(10):e48179. doi: 10.1371/journal.pone.0048179. Epub 2012 Oct 23. PLoS One. 2012. PMID: 23110205 Free PMC article.
BACKGROUND: Moyamoya disease (MMD) is an uncommon cerebrovascular disorder characterized by progressive occlusion of the internal carotid artery causing cerebral ischemia and hemorrhage. ...Thus we designed this case-control study to validate the R4810K mutation and …
BACKGROUND: Moyamoya disease (MMD) is an uncommon cerebrovascular disorder characterized by progressive occlusion of the inter …
RNF213 as the major susceptibility gene for Chinese patients with moyamoya disease and its clinical relevance.
Zhang Q, Liu Y, Zhang D, Wang R, Zhang Y, Wang S, Yu L, Lu C, Liu F, Zhou J, Zhang X, Zhao J. Zhang Q, et al. J Neurosurg. 2017 Apr;126(4):1106-1113. doi: 10.3171/2016.2.JNS152173. Epub 2016 Apr 29. J Neurosurg. 2017. PMID: 27128593
OBJECTIVE Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease. The authors conducted a genetic study of really interesting new gene (RING) finger protein 213 ( RNF213); actin alpha 2 ( ACTA2); BRCA1/BRCA2-containing comp …
OBJECTIVE Moyamoya disease (MMD) is a rare, genetically heterogeneous cerebrovascular disease. The authors conducted a …
A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213.
Strong A, O'Grady G, Shih E, Bishop JR, Loomes K, Diamond T, Hartung EA, Wong W, Cuddapah S, Cahill AM, Hou C, Slater D, Vaccaro C, Watson D, Li D, Hakonarson H. Strong A, et al. Am J Med Genet A. 2021 Jul;185(7):2168-2174. doi: 10.1002/ajmg.a.62215. Epub 2021 May 7. Am J Med Genet A. 2021. PMID: 33960657 Free PMC article.
These cases highlight the ability of RNF213 to cause Mendelian moyamoya disease in addition to acting as a genetic susceptibility locus. The cases also suggest a new, multi-organ RNF213-spectrum disease characterized by liver, skin, and k …
These cases highlight the ability of RNF213 to cause Mendelian moyamoya disease in addition to acting as a genetic susc …
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
PURPOSE: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in RNF213 with an early-onset form of moyamoya dise …
PURPOSE: RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya …
First Report: Rare RNF213 Variant Associated with Familial Moyamoya Disease in an African American Family.
Sunmonu NA, Ambati NK, Thomas MJ, Ulep RD, Worrall B. Sunmonu NA, et al. J Stroke Cerebrovasc Dis. 2021 Dec;30(12):106123. doi: 10.1016/j.jstrokecerebrovasdis.2021.106123. Epub 2021 Oct 16. J Stroke Cerebrovasc Dis. 2021. PMID: 34666234
OBJECTIVE: To investigate potential genetic susceptibility for moyamoya disease (MMD) in an African American family. MATERIALS AND METHODS: Neurovascular imaging and analyses of MMD susceptibility genes RNF213 and/or ACTA2 in a young proband with MMD and two …
OBJECTIVE: To investigate potential genetic susceptibility for moyamoya disease (MMD) in an African American family. MATERIALS …
Unilateral moyamoya phenomenon with a string-of-beads appearance in an elderly patient with the c.14576G>A heterozygous variant of RNF213.
Aoki J, Shibazaki K, Ito M, Saji N, Uemura J, Houkin K, Kimura K. Aoki J, et al. Intern Med. 2015;54(8):971-4. doi: 10.2169/internalmedicine.54.3534. Epub 2015 Apr 15. Intern Med. 2015. PMID: 25876583 Free article.
We herein report a case of ischemic stroke in a 69-year-old man with unilateral moyamoya vessels originating from the proximal portion of the left middle cerebral artery. ...The patient's younger brother had a history of hemorrhagic stroke and had been diagnosed with mo …
We herein report a case of ischemic stroke in a 69-year-old man with unilateral moyamoya vessels originating from the proximal portio …