Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 114 Records) |
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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 |
| The Potential Mechanism Behind Native and Therapeutic Collaterals in Moyamoya. Frontiers in neurology 2022 5 13 861184. Bao Xiang-Yang, Fan Yan-Na, Wang Qian-Nan, Wang Xiao-Peng, Yang Ri-Miao, Zou Zheng-Xing, Zhang Qian, Li De-Sheng, Duan Lian, Yu Xin-Gua |
| Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population. Scientific reports 2022 4 12 (1): 5429. Foo Claribel Tian Yu, To Yi Hui, Irwanto Astrid, Ng Alvin Yu-Jin, Yan Benedict, Chew Sophia Tsong Huey, Liu Jianjun, Ti Lian K |
| [Precision Medicine for Moyamoya Disease]. No shinkei geka. Neurological surgery 2022 2 50 (1): 216-221. Fujimura Mi |
| 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 between DIAPH1 variant and posterior circulation involvement with Moyamoya disease. Scientific reports 2023 7 13 (1): 10732. Shihao He, Xiaokuan Hao, Ziqi Liu, Yanru Wang, Junze Zhang, Xilong Wang, Fei Di, Rong Wang, Yuanli Zh |
| 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 |
| Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. Brain : a journal of neurology 2023 5 . Amélie Pinard, Wenlei Ye, Stuart M Fraser, Jill A Rosenfeld, Pavel Pichurin, Scott E Hickey, Dongchuan Guo, Alana C Cecchi, Maura L Boerio, Stéphanie Guey, Chaker Aloui, Kwanghyuk Lee, Markus Kraemer, Saleh Omar Alyemni, , Michael J Bamshad, Deborah A Nickerson, Elisabeth Tournier-Lasserve, Shozeb Haider, Sheng Chih Jin, Edward R Smith, Kristopher T Kahle, Lily Yeh Jan, Mu He, Dianna M Milewi |
| 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 |
| 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 |
| The Impact of Mutation of Myelodysplasia-Related Genes in De Novo Acute Myeloid Leukemia Carrying NPM1 Mutation. Cancers 2023 1 15 (1): . Wang Yi, Quesada Andres E, Zuo Zhuang, Medeiros L Jeffrey, Yin C Cameron, Li Shaoying, Xu Jie, Borthakur Gautam, Li Yisheng, Yang Chao, Abaza Yasmin, Gao Juehua, Lu Xinyan, You M James, Zhang Yizhuo, Lin P |
| 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 |
| HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K. European journal of neurology 2024 9 e16473. Jun Xu, Zhengxing Zou, Wanyang Liu, Qian Zhang, Juan Shen, Fangbin Hao, Gan Chen, Dan Yu, Yunzhu Li, Zhengshan Zhang, Yuchen Qin, Rimiao Yang, Yue Wang, Lian Du |
| Association of rare variants in RNF213 with severe progression of intracranial artery stenosis in quasi-moyamoya disease. Journal of neurosurgery 2024 9 1-10. Seiei Torazawa, Satoru Miyawaki, Hideaki Imai, Hiroki Hongo, Daiichiro Ishigami, Masahiro Shimizu, Yu Sakai, Shotaro Ogawa, Satoshi Kiyofuji, Satoshi Koizumi, Daisuke Komura, Hiroto Katoh, Hideaki Ono, Hirofumi Nakatomi, Shumpei Ishikawa, Nobuhito Sai |
| RNF213 Mutation Associated with the Progression from Middle Cerebral Artery Steno-Occlusive Disease to Moyamoya Disease. Translational stroke research 2024 8 . Tomoki Sasagasako, Yohei Mineharu, Takeshi Funaki, Yasutaka Fushimi, Hideo Chihara, Silsu Park, Kota Nakajima, Yasuzumi Matsui, Masakazu Okawa, Takayuki Kikuchi, Yoshiki Araka |
| Prevalence of RNF213 rs112735431 Genetic Polymorphism in Non-Cardioembolic Ischemic Cerebrovascular Disease: A Cross-Sectional Study in Thai Patients. Cerebrovascular diseases extra 2024 8 . Suporn Travanichakul, Aurauma Chutinet, Naruchorn Kijpaisalratana, Thiti Snabboon, Natnicha Houngngam, Nijasri C Suwanwe |
| Molecular Biomarkers Affecting Moyamoya Disease. Advances and technical standards in neurosurgery 2024 5 49 1-18. Yong-Kwang Tu, Yao-Ching Fa |
| 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 |
| Association between polymorphism in the MTHFR gene and encephaloduroarteriosynangiosis-induced collateral circulation formation. Journal of neurosurgery 2024 4 1-9. Gan Gao, Xiang-Yang Bao, Qian-Nan Wang, Xiao-Peng Wang, Fang-Bin Hao, Si-Meng Liu, Min-Jie Wang, Qing-Bao Guo, Jing-Jie Li, Lian Du |
| 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 |
| 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 |
| Association Between Folate Metabolism Risk, Collateral Circulation, and Hemorrhagic Risk in Moyamoya Disease. Translational stroke research 2025 1 . Junsheng Li, Qiheng He, Chenglong Liu, Chaofan Zeng, Zhiyao Zheng, Bojian Zhang, Siqi Mou, Wei Liu, Wei Sun, Peicong Ge, Dong Zhang, Jizong Zh |
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