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 (53)：

Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille, Marta Biderman Waberski, Tadahiro Mitani, Ilka Huber, Kristian Tveten, et al. Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia. American journal of human genetics. 2024
Mitsuaki Yoshino, Daisuke Matsubara, Yoshitaka Shinno, Tadahiro Mitani, Hironori Shimozawa, Kazuo Takahashi, Tomoyuki Ota, Yuji Gunji. Influenza-Associated Intussusception: "You Too, Intussusception". The Pediatric infectious disease journal. 2024
Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Dana Marafi, Maha S Zaki, Mohnish Suri, Roberto Dominguez, Hasnaa M Elbendary, et al. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genetics in medicine : official journal of the American College of Medical Genetics. 2024. 101251-101251
Kohei Nagai, Tadahiro Mitani, Masaya Kato, Karin Kojima, Noriyoshi Fukushima, Takahiko Omaeuda, Yukihiro Sanada, Kiminori Terui, Toshihiro Tajima, Hitoshi Osaka, et al. Successful living-donor liver transplantation for neonatal hemochromatosis due to transient abnormal myelopoiesis with Down syndrome: Case report and review of the literature. Pediatric blood & cancer. 2024. e31228
Jessica X Chong, Seth I Berger, Samantha Baxter, Erica Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie DiTroia, Michael J Bamshad, et al. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing. Genetics in medicine : official journal of the American College of Medical Genetics. 2024. 101199-101199

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MISC (35)：

江頭晟良, 奥村一輝, 若江惠三, 月田貴和子, 三谷忠宏, 山岸裕和, 小島華林, 門田行史, 村松一洋, 小川仁, et al. 抗MOG抗体関連疾患(MOGAD)の13歳女児例. 栃木県医学会々誌. 2024. 54. 12-12
奥村一輝, 村松一洋, 三谷忠宏, 永井康平, 小坂仁, 中俣彰裕, 古川理恵子. AESDを含む急性脳症2例におけるArterial spin labelingの検討. 日本小児放射線学会雑誌. 2024. 40. Suppl. 39-39
横関紗帆, 小坂仁, 村松一洋, 三谷忠宏, 月田貴和子. ステロイドパルス療法によりウイルス排泄が遅延し,著明な高CK血症が遷延したCOVID-19感染症. 脳と発達. 2024. 56. Suppl. S219-S219
浅倉佑太, 小島華林, 横関紗帆, 永井康平, 吉野光朗, 若江恵三, 溝部万里菜, 若林慶, 三谷忠宏, 池田尚広, et al. 再発予防にタクロリムスを選択したMOG抗体関連疾患の13歳男子例. 脳と発達. 2024. 56. Suppl. S245-S245
岩崎智裕, 三谷忠宏, 浅井眞穂, 堀口明由美, 川原勇太, 小熊啓文, 田島敏広, 村松一洋, 五味玲, 小坂仁. 脳室内髄膜腫術後に神経線維腫症2型の診断に至った3歳男児. 脳と発達. 2024. 56. Suppl. S250-S250

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