A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
By Fumiaki Kamada, Y. Aoki, A. Narisawa, Yu Abe, Shoko Komatsuzaki, Atsuo Kikuchi, Junko Kanno, T. Niihori, M. Ono, N. Ishii and 9 more. Journal of Human Genetics, 2011
697 citations recorded by the source corpus.
Subfields: Neurology, Pulmonary and Respiratory Medicine, Rheumatology
View Paper: https://www.semanticscholar.org/paper/47ac18224cac741915232967949a231b2086de6d
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Citations in the corpus
- Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism (2020, background): “Moreover, it was shown that RNF213 combines AAA ATPase and E3 activities in a single polypeptide (Kamada et al., 2011), yielding a unique ubiquitination machine in the ubiquitin-proteasome system.”
- Insights into hominid evolution from the gorilla genome sequence (2012, background): “The gene with the strongest evidence for acceleration along the branch leading to hominines is RNF213 (branch-site P , 2.9 3 10 2 9 ), a gene associated with Moyamoya disease in which blood flow to the brain is restricted due to arterial stenosis 26 .”
- Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture (2013, neutral): “Two GWA studies have found associations within 1 Mb of the lead marker, rs7503807, including associations with longevity(38) and with Moyamoya disease.(39) Both of these SNPs appear to be independent of the lead marker (Supplementary Table 17).”