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 Institute for Comprehensive Medical Sciences
Summary Research grants & projects Published papers
Academic conference presentation


Professor：

    井上　真郷
   平澤　明 		Associate Professor：
    AKAGAWA HIROYUKI
   田邊　賢司 		Assistant Professor：
    東　剣虹
   堤　清香
■ Summary
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■ Research grants & projects
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■ Research works
Journal Book Presentation Other presentations
JapaneseEnglish JapaneseEnglish Domesticinternational
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■ Published papers
Original article
1. Tatsuya Maegawa, Hiroyuki Akagawa, Hideaki Onda, Hidetoshi Kasuya：  Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms.  PLoS ONE  17 (3) ：e0265359 , 2022.3   DOI:doi: 10.1371/journal.pone.0265359 Link
2. Hara Shoko, Mukawa Maki, Akagawa Hiroyuki, Thamamongood Thiparpa, Inaji Motoki, Tanaka Yoji, Maehara Taketoshi, Kasuya Hidetoshi, Nariai Tadashi：  Absence of the RNF213 p.R4810K variant may indicate a severe form of pediatric moyamoya disease in Japanese patients.  Journal of neurosurgery. Pediatrics  29 (1) ：48-56 , 2021.10   DOI:10.3171/2021.7.PEDS21250
3. Kurokawa Yuna, Konishi Rikako, Tomioku Kanna, Tanabe Kenji, Fujita Akikazu：  The distribution of phosphatidylinositol 4,5-bisphosphate in the budding yeast plasma membrane.  Histochemistry and cell biology  156 (2) ：109-121 , 2021.8   DOI:10.1007/s00418-021-01989-8
4. Kenji Tanabe：  Image-based phenotypic profiling of a chemogenomic screening library identifies novel druggable targets in the EGFR pathway.  BioRxiv  ：440090 , 2021.4   DOI:https://doi.org/10.1101/2021.04.16.440090
Case report
1. Morita Shuhei, Yamaguchi Koji, Akagawa Hiroyuki, Ishikawa Tatsuya, Funatsu Takayuki, Eguchi Seiichiro, Ishikawa Tomomi, Niwa Akihiro, Nonaka Taku, Kawamata Takakazu：  Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation.  Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association  31 (9) ：106402 , 2022.3   DOI:10.1016/j.jstrokecerebrovasdis.2022.106402
2. Shimazaki Rui, Ikezawa Jun, Okiyama Ryoichi, Azuma Kenko, Akagawa Hiroyuki, Takahashi Kazushi：  Dystonic Tremor in Adult-onset DYT-KMT2B: A Case Report.  Internal medicine (Tokyo, Japan)  ：1-5 , 2022.1   DOI:10.2169/internalmedicine.8700-21 Link
3. Yamamoto-Shimojima K†, Akagawa H, Yanagi K, Kaname T, Okamoto N, Yamamoto T*：  Deep intronic deletion in intron 3 of PLP1 associated with severe phenotype of Pelizaeus-Merzbacher disease.  Human Genome Variation  8 ：14 , 2021.4   DOI:https://doi.org/10.1038/s41439-021-00144-y Link
Other
1. Hara Shoko, Akagawa Hiroyuki, Nariai Tadashi：  RNF213 Gene Variants in Moyamoya Disease: Questions Remain Unanswered.  World neurosurgery  162 ：18-20 , 2022.3   DOI:10.1016/j.wneu.2022.03.040
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■ Academic conference presentation
1. 野村 俊介, 赤川 浩之, 北原 秀治, 山口 浩司, 川俣 貴一： もやもや病疾患感受性遺伝子RNF213:Genotype-phenotype correlation　臨床から病理まで.  第 37 回吉岡彌生記念講演会,  東京都,  2021/05
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  ＊：Corresponding Author
 †：First Author
◎：Presenter