Mitani Tadahiro

ミタニタダヒロ | Mitani Tadahiro

Affiliation and department：

Research field (3)： Fetal medicine/Pediatrics , Genomics , Developmental biology

Research keywords (8)：小児科 , 神経学 , 人類遺伝学 , 分子遺伝学 , ヒトゲノム , エピゲノム , 発生生物学 , 生殖細胞

Research theme for competitive and other funds (4)：

2023 - 2026 フェロトーシスを軸としたミトコンドリア病の病態解明と治療開発
2022 - 2025 Verification of neurodynamic changes in ADHD using neuromelanin MRI and neurofunctional examinations.
2016 - 2019 Cross-lineage analysis of the genomic binding sites of a transcriptional repressor BLIMP1 with a ChIP-sea method for small number of cells
2013 - 2015 マウス始原生殖細胞におけるチミンDNAグリコシラーゼ(TDG)の機能解析

Papers (46)：

Ayaka Ohashi, Daisuke Matsubara, Yoshitaka Mizobe, Tadahiro Mitani, Marika Ono, Miki Nozawa, Makoto Ito, Toshihiro Tajima, Hitoshi Osaka. An unusual pediatric case of an insidious thermal airway injury without initial signs of facial or intraoral scalding. Journal of burn care & research : official publication of the American Burn Association. 2024
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, et al. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain : a journal of neurology. 2023
Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G Ng, Reza Maroofian, Farhana Taher Sumya, Ahmed K Saad, Haowei Du, Jawid M Fatih, Jill V Hunter, et al. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. Journal of inherited metabolic disease. 2023
Monica H Wojcik, Chloe M Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H Duyzend, Hayk Barseghyan, Bo Yuan, Philip M Boone, Emily E Groopman, Emmanuèle C Délot, et al. Beyond the exome: What's next in diagnostic testing for Mendelian conditions. American journal of human genetics. 2023. 110. 8. 1229-1248
Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, et al. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. American journal of human genetics. 2023

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MISC (27)：

谷本和也, 溝部吉高, 五味遥, 三谷忠宏, 宮内彰彦, 青柳順, 田村大輔, 多賀直行, 岡徳彦, 菊池豊, et al. けいれん重積後の誤嚥でMendelson症候群を発症し救命した1例. 小児科臨床. 2023. 76. 6. 859-863
瀬戸翔太, 北村薫, 三谷忠宏, 橋口万里奈, 浅井眞穂, 門田行史, 村松一洋, 小坂仁, 山形崇倫, 田島敏広. グアンファシン過量内服による臨床像について. 栃木県医学会々誌. 2023. 53. 10-10
堀内俊男, 眞田幸弘, 高寺樹一朗, 大豆生田尚彦, 平田雄大, 岡田憲樹, 脇屋太一, 大西康晴, 三谷忠宏, 熊谷秀規, et al. 生体肝移植後に非IgE依存性食物蛋白誘発胃腸炎を認めた21トリソミーの1例. 日本小児栄養消化器肝臓学会雑誌. 2023. 37. Suppl. 86-86
若江惠三, 倉根超, 浅倉佑太, 橋口万里奈, 三谷忠宏, 溝部吉高, 村松一洋, 小坂仁, 山形崇倫. 意識障害が遷延したが,腫瘍摘出により神経学的予後が良好であった抗NMDA受容体脳炎の一例. 脳と発達. 2023. 55. Suppl. S333-S333
三谷忠宏, Pehlivan Davut, Posey Jennifer E., Lupski James R. 新規の神経細胞移植異常症関連遺伝子TUBGCP2とCAMSAP1の同定. 脳と発達. 2023. 55. Suppl. S345-S345

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