Keyword

RNF213

Description: RNF213 is a human protein-coding gene encoding a large protein with E3 ubiquitin ligase activity and roles in cellular signaling.

Primary topic: Moyamoya disease diagnosis and treatment (44%)

Related topic: Moyamoya disease diagnosis and treatment (44%)

Wikidata ID: wiki/Q18044405

OpenAlex ID: keywords/rnf213

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

2010 · Fumiaki Kamada, Yoko Aoki, et al. · Journal of Human Genetics · 752

Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development

2011 · Wanyang Liu, Daisuke Morito, et al. · PLoS ONE · 719

Moyamoya Disease: Epidemiology, Clinical Features, and Diagnosis

2016 · Jong S. Kim · Journal of Stroke · 501

Ubiquitylation of lipopolysaccharide by RNF213 during bacterial infection

2021 · Elsje G. Otten, Emma Werner, et al. · Nature · 398

Moyamoya disease: diagnosis and interventions

2022 · Masafumi Ihara, Yumi Yamamoto, et al. · The Lancet Neurology · 396

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease

2012 · S. Miyatake, N. Miyake, et al. · Neurology · 306

Probing the Global Cellular Responses to Lipotoxicity Caused by Saturated Fatty Acids

2019 · Manuele Piccolis, Laura M. Bond, et al. · Molecular Cell · 268

Endothelial RSPO3 Controls Vascular Stability and Pruning through Non-canonical WNT/Ca 2+ /NFAT Signaling

2016 · Beate Scholz, Claudia Korn, et al. · Developmental Cell · 182

Genetics and Biomarkers of Moyamoya Disease: Significance ofRNF213as a Susceptibility Gene

2014 · Miki Fujimura, Shinya Sonobe, et al. · Journal of Stroke · 163

Biochemical and Functional Characterization of RNF213 (Mysterin) R4810K, a Susceptibility Mutation of Moyamoya Disease, in Angiogenesis In Vitro and In Vivo

2015 · Hatasu Kobayashi, Yoshiko Matsuda, et al. · Journal of the American Heart Association · 160

Genetic Variant RNF213 c.14576G>A in Various Phenotypes of Intracranial Major Artery Stenosis/Occlusion

2013 · Satoru Miyawaki, Hideaki Imai, et al. · Stroke · 157

RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease

2014 · Alana C. Cecchi, Dongchuan Guo, et al. · Stroke · 155

RNF213, a new nuclear marker for acanthomorph phylogeny

2008 · Blaise Li, Agnès Dettaï, et al. · Molecular Phylogenetics and Evolution · 151

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

2015 · Kazuhiro Ohkubo, Yasunari Sakai, et al. · Scientific Reports · 149

Identification of a Genetic Variant Common to Moyamoya Disease and Intracranial Major Artery Stenosis/Occlusion

2012 · Satoru Miyawaki, Hideaki Imai, et al. · Stroke · 146

Moyamoya disease factor RNF213 is a giant E3 ligase with a dynein-like core and a distinct ubiquitin-transfer mechanism

2020 · Juraj Ahel, Anita Lehner, et al. · eLife · 142

The AAA+ ATPase/ubiquitin ligase mysterin stabilizes cytoplasmic lipid droplets

2019 · Munechika Sugihara, Daisuke Morito, et al. · The Journal of Cell Biology · 140

PTP1B controls non-mitochondrial oxygen consumption by regulating RNF213 to promote tumour survival during hypoxia

2016 · Robert S. Banh, Caterina Iorio, et al. · Nature Cell Biology · 140

The Genetic Basis of Moyamoya Disease

2021 · R. Mertens, M. Graupera, et al. · Translational Stroke Research · 138

A new horizon of moyamoya disease and associated health risks explored through RNF213

2015 · Akio Koizumi, Hatasu Kobayashi, et al. · Environmental Health and Preventive Medicine · 135

Distribution of Moyamoya Disease Susceptibility Polymorphism p.R4810K in RNF213 in East and Southeast Asian Populations

2012 · Wanyang LIU, Toshiaki HITOMI, et al. · Neurologia medico-chirurgica · 135

Ring finger protein 213 assembles into a sensor for ISGylated proteins with antimicrobial activity

2021 · Fabien Thery, Lia Martina, et al. · Nature Communications · 133

Moyamoya Disease

2016 · Miki Fujimura, Oh Young Bang, et al. · Monographs in clinical neuroscience/Frontiers of neurology and neuroscience/Monographs in neural sciences · 129

Temporal profile of the vascular anatomy evaluated by 9.4-T magnetic resonance angiography and histopathological analysis in mice lacking RNF213: A susceptibility gene for moyamoya disease

2014 · Shinya Sonobe, Miki Fujimura, et al. · Brain Research · 124

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians

2017 · Stéphanie Guey, Markus Kraemer, et al. · European Journal of Human Genetics · 122

Works count: 707

Citation count: 13,090