Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 143 Records) |
Query Trace: RNF213[original query] |
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Impact of RNF213 c.14576G>A Variant on the Development of Direct and Indirect Revascularization in Pediatric Moyamoya Disease. Cerebrovascular diseases (Basel, Switzerland) 2022 9 1-6. Kawabori Masahito, Ito Masaki, Kazumata Ken, Tokairin Kikutaro, Hatanaka Kanako C, Ishikawa Susumu, Houkin Kiyohiro, Fujimura Mi |
RNF213 R4810K Variant in Suspected Unilateral Moyamoya Disease Predicts Contralateral Progression. Journal of the American Heart Association 2022 7 11 (15): e025676. Ok Taedong, Jung Yo Han, Kim Jinkwon, Park Sang Kyu, Park Goeun, Lee Sujee, Lee Kyung-Y |
Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study.
Translational stroke research 2022 Jun . Dofuku Shogo, Sonehara Kyuto, Miyawaki Satoru, Sakaue Saori, Imai Hideaki, Shimizu Masahiro, Hongo Hiroki, Shinya Yuki, Ohara Kenta, Teranishi Yu, Okano Atsushi, Ono Hideaki, Nakatomi Hirofumi, Teraoka Akira, Yamamoto Kenichi, Maeda Yuichi, Nii Takuro, Kishikawa Toshihiro, Suzuki Ken, Hirata Jun, Takahashi Meiko, Matsuda Koichi, Kumanogoh Atsushi, Matsuda Fumihiko, Okada Yukinori, Saito Nobuhi |
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer. JAMA network open 2022 Dec 5 (12): e2245836. Liu Ze-Xian, Zhang Xiao-Long, Zhao Qi, Chen Yungchang, Sheng Hui, He Cai-Yun, Sun Yu-Ting, Lai Ming-Yu, Wu Min-Qing, Zuo Zhi-Xiang, Wang Wei, Zhou Zhi-Wei, Wang Feng-Hua, Li Yu-Hong, Xu Rui-Hua, Qiu Miao-Zh |
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients. Annals of neurology 2022 12 . Park Hong-Kyun, Lee Keon-Joo, Park Jong-Moo, Kang Kyusik, Lee Soo Joo, Kim Jae Guk, Cha Jae-Kwan, Kim Dae-Hyun, Han Moon-Ku, Kang Jihoon, Kim Beom Joon, Park Tai Hwan, Park Moo-Seok, Lee Kyung Bok, Lee Jun, Hong Keun-Sik, Cho Yong-Jin, Lee Byung-Chul, Yu Kyung-Ho, Oh Mi Sun, Kim Joon-Tae, Choi Kang-Ho, Kim Dong-Eog, Ryu Wi-Sun, Choi Jay Chol, Kwon Jee-Hyun, Kim Wook-Joo, Shin Dong-Ick, Sohn Sung Il, Hong Jeong-Ho, Lee Juneyoung, Lee Kyunghoon, Song Junghan, Bae Joon Seol, Cheong Hyun Sub, Debette Stéphanie, Bae Hee-Jo |
Effect of the RNF213 p.R4810K Variant on the Progression of Intracranial Artery Stenosis: A 15-Year Follow-up Study. Neurology. Genetics 2022 11 8 (5): e200029. Okazaki Shuhei, Yoshimoto Takeshi, Ohara Mariko, Takagaki Masatoshi, Nakamura Hajime, Watanabe Kotaro, Gon Yasufumi, Todo Kenichi, Sasaki Tsutomu, Araki Hiroyuki, Yamada Tomomi, Manabe Shirou, Kishima Haruhiko, Ihara Masafumi, Mochizuki Hide |
Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease. Translational stroke research 2023 9 . Shunsuke Nomura, Hiroyuki Akagawa, Koji Yamaguchi, Kenko Azuma, Akikazu Nakamura, Atsushi Fukui, Fumiko Matsuzawa, Yasuo Aihara, Tatsuya Ishikawa, Yosuke Moteki, Kentaro Chiba, Kazutoshi Hashimoto, Shuhei Morita, Taichi Ishiguro, Yoshikazu Okada, Sandra Vetiska, Hugo Andrade-Barazarte, Ivan Radovanovic, Akitsugu Kawashima, Takakazu Kawama |
Hypertensive disorders of pregnancy in moyamoya disease: A single institution experience. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2023 9 32 (11): 107377. Hirohisa Yajima, Satoru Miyawaki, Seisuke Sayama, Keiichi Kumasawa, Masako Ikemura, Hideaki Imai, Hiroki Hongo, Yudai Hirano, Daiichiro Ishigami, Seiei Torazawa, Satoshi Kiyofuji, Satoshi Koizumi, Nobuhito Sai |
Association of thyroid peroxidase antibody with the RNF213 p.R4810K variant in ischemic stroke/transient ischemic attack. Atherosclerosis 2023 9 382 117281. Takeshi Yoshimoto, Hiroyuki Ishiyama, Yorito Hattori, Kunihiro Nishimura, Yoko Okada, Hideaki Watanabe, Yasumasa Ohyagi, Yasuhisa Akaiwa, Tomoyuki Miyamoto, Michi Kawamoto, Masahiko Ichijo, Hiroyasu Inoue, Noriyuki Matsukawa, Toshiki Mizuno, Hirofumi Matsuyama, Hidekazu Tomimoto, Daisuke Kawakami, Kazunori Toyoda, Masatoshi Koga, Masafumi Iha |
Amplified Risk of Intracranial Artery Stenosis/Occlusion Associated With RNF213 p.R4810K in Familial Hypercholesterolemia. JACC. Asia 2023 8 3 (4): 625-633. Kotaro Noda, Yorito Hattori, Mika Hori, Yuriko Nakaoku, Akito Tanaka, Takeshi Yoshimoto, Kunihiro Nishimura, Takanori Yokota, Mariko Harada-Shiba, Masafumi Iha |
Genome-phenome wide association study of broadly defined headache. Brain communications 2023 6 5 (3): fcad167. Wan-Ting Hsu, Yu-Ting Lee, Jasmine Tan, Yung-Han Chang, Frank Qian, Kuei-Yu Liu, Jo-Ching Hsiung, Chia-Hung Yo, Sung-Chun Tang, Xia Jiang, Chien-Chang L |
RNF213 p.Arg4810Lys Wild Type is Associated with De Novo Hemorrhage in Asymptomatic Hemispheres with Moyamoya Disease. Translational stroke research 2023 6 . Seiei Torazawa, Satoru Miyawaki, Hideaki Imai, Hiroki Hongo, Daiichiro Ishigami, Masahiro Shimizu, Hideaki Ono, Yuki Shinya, Daisuke Sato, Yu Sakai, Motoyuki Umekawa, Satoshi Kiyofuji, Daisuke Shimada, Satoshi Koizumi, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa, Hirofumi Nakatomi, Akira Teraoka, Nobuhito Sai |
Whole-exome sequencing in moyamoya patients of Northern-European origin identifies gene variants involved in Nitric Oxide metabolism: A pilot study. Brain & spine 2023 6 3 101745. Markus K H Wiedmann, Ingunn V Steinsvåg, Tovy Dinh, Magnus D Vigeland, Pål G Larsson, Hanne Hjorthaug, Ying Sheng, Inger-Lise Mero, Kaja K Selm |
Genome-wide association study identifies novel susceptibilities to adult moyamoya disease. Journal of human genetics 2023 6 . Jin Pyeong Jeon, Eun Pyo Hong, Eun Jin Ha, Bong Jun Kim, Dong Hyuk Youn, Sungyoung Lee, Hee Chang Lee, Kang Min Kim, Sung Ho Lee, Won-Sang Cho, Hyun-Seung Kang, Jeong Eun K |
Meta-analysis of the association between RNF213 polymorphisms and clinical features of moyamoya disease in Asian population. Clinical neurology and neurosurgery 2023 6 231 107801. Xiaolong Jiang, Li Liu, Sijin Ai, Xinrui Xie, Jiajun Deng, Zeshen Jiang, Bin Teng, Chengjiang Liu, Haiying Hua |
Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack. Stroke and vascular neurology 2023 5 . Hongyu Zhou, Jing Jing, Yuehua Pu, Wei Li, Xia Meng, Anxin Wang, Yingting Zuo, Zhe Xu, Qin Xu, Yue Suo, Hao Li, Yongjun Wa |
Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease: Correspondence. Neurosurgical review 2023 5 46 (1): 126. Amnuay Kleebayoon, Viroj Wiwanitk |
Association of RNF213 polymorphism and cortical hyperintensity sign on fluid-attenuated inversion recovery images after revascularization surgery for moyamoya disease: possible involvement of intrinsic vascular vulnerability. Neurosurgical review 2023 5 46 (1): 119. Haruto Uchino, Masaki Ito, Kikutaro Tokairin, Ryota Tatezawa, Taku Sugiyama, Ken Kazumata, Miki Fujimu |
A long-term study of posterior circulation changes after revascularization in patients with moyamoya disease. Journal of neurosurgery 2023 4 1-6. Bao Xiang-Yang, Tong Huai-Yu, Wang Qian-Nan, Wang Xiao-Peng, Gao Gan, Zhang Qian, Zou Zheng-Xing, Duan Li |
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European journal of human genetics : EJHG 2023 4 . Zanoni Paolo, Steindl Katharina, Sticht Heinrich, Oneda Beatrice, Joset Pascal, Ivanovski Ivan, Horn Anselm H C, Cabello Elena M, Laube Julia, Zweier Markus, Baumer Alessandra, Rauch Anita, Khan Nad |
Circulating Inflammatory Cytokine Associated with Poor Prognosis in Moyamoya Disease: A Prospective Cohort Study. Journal of clinical medicine 2023 2 12 (3): . Liu Wei, Sun Jian, Shi Zhiyong, Huang Zheng, Yu Lebao, Du Haibin, Ge Peicong, Zhang Do |
Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease. Neurologia medico-chirurgica 2023 12 . Thiparpa Thamamongood, Shoko Hara, Hiroyuki Akagawa, Motoki Inaji, Yoji Tanaka, Tadashi Nariai, Taketoshi Maeha |
Posterior cerebral artery involvement in unilateral moyamoya disease is exclusively ipsilateral and influenced by RNF213 mutation gene dose: The SUPRA Japan study: PCA involvement in unilateral moyamoya. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2023 12 33 (2): 107513. Yohei Mineharu, Yasushi Takagi, Akio Koizumi, Takaaki Morimoto, Takeshi Funaki, Tomohito Hishikawa, Yoshio Araki, Hitoshi Hasegawa, Jun C Takahashi, Satoshi Kuroda, Kiyohiro Houkin, Susumu Miyamoto, |
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. Genetics in medicine : official journal of the American College of Medical Genetics 2023 11 101013. Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Robert Kopajtich, Malin Zaddach, Hanna Zimmermann, Irina Hüning, Diana Ballhausen, Christian Staufner, Alyssa Bianzano, Joanne Hughes, Robert W Taylor, Robert McFarland, Anita Devlin, Mihaela Mihaljevi?, Nina Bariši?, Meino Rohlfs, Sibylle Wilfling, Neal Sondheimer, Stacy Hewson, Nikolaos M Marinakis, Konstantina Kosma, Joanne Traeger-Synodinos, Miriam Elbracht, Matthias Begemann, Sonja Trepels-Kottek, Dimah Hasan, Marcello Scala, Valeria Capra, Federico Zara, Amelie T van der Ven, Joenna Driemeyer, Christian Apitz, Johannes Krämer, Alanna Strong, Hakon Hakonarson, Deborah Watson, Johannes A Mayr, Holger Prokisch, Thomas Meitinger, Ingo Borggraefe, Juliane Spiegler, Ivo Baric, Marco Paolini, Lucia Gerstl, Matias Wagn |
Association of rare RNF213 variants and intracranial aneurysm risk in a Chinese population. Annals of translational medicine 2023 1 10 (24): 1336. Li Yaqi, Liu Junyu, Hu Chongyu, Luo Chun, Zhou Jilin, Li Bingyang, Liao Xin, Liu Songlin, Yuan Dun, Jiang Weixi, Li Yifeng, Yan Junx |
Association of Genetic Variants with Postoperative Donor Artery Development in Moyamoya Disease: RNF213 and Other Moyamoya Angiopathy-Related Gene Analysis. Translational stroke research 2024 4 . Seiei Torazawa, Satoru Miyawaki, Hideaki Imai, Hiroki Hongo, Hideaki Ono, Shotaro Ogawa, Yu Sakai, Satoshi Kiyofuji, Satoshi Koizumi, Daisuke Komura, Hiroto Katoh, Shumpei Ishikawa, Nobuhito Sai |
RNF213 variant and autophagic impairment: A pivotal link to endothelial dysfunction in moyamoya disease. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism 2024 4 271678X241245557. Hee Sun Shin, Geun Hwa Park, Eun Sil Choi, So Young Park, Da Sol Kim, Jaerak Chang, Ji Man Ho |
RNF213 in moyamoya disease: Genotype-phenotype association and the underlying mechanism. Chinese medical journal 2024 1 . Jianxun Fang, Xinzhuang Yang, Jun |
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants. Neurology. Genetics 2024 1 9 (5): e200099. Kotaro Noda, Yorito Hattori, Mika Hori, Mariko Harada-Shiba, Masafumi Iha |
Neuregulin 1 as a potential biomarker for disease progression in moyamoya disease: A case-control study in Chinese population. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2024 1 33 (3): 107581. Jie Chen, Hanyue Zheng, Xiaoxin Wu, Xingyang Niu, Yuanyuan Dai, Zhenhua Zhou, Fei |
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- Page last updated:Apr 16, 2024
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