Niihori Tetsuya

ニイホリテツヤ | Niihori Tetsuya

Affiliation and department：
Other affiliations (1)：

Tohoku University

Research theme for competitive and other funds (28)：

2023 - 2026 Elucidation of novel mechanisms of RASopathies
2023 - 2026 Pathogenesis and development of gene therapy for rare genetic disorders focusing on proteostasis of the RAS-GTPase
2021 - 2024 Lymphatic abnormalities in RAS related disorders
2020 - 2023 がん遺伝子産物RASに対する分解誘導戦略の構築
2020 - 2023 New mechanisms and pathogenesis of Noonan syndrome adn related disorders

2020 - 2023 Pathophysiological analysis of radioulnar synostosis with or without amegakaryocytic thrombocytopenia

2018 - 2021 Crosstalk between mechanism of metabolic abnormalies in congenital disorders and cancer cell metabolism

2018 - 2021 CFC症候群の心疾患におけるヒストン修飾の役割の解明

2018 - 2021 骨形成不全症の分子基盤の解明とWntシグナルとOASISの活性化による新規治療

2021 - 先天性橈尺骨癒合症のゲノム解析と発症メカニズムの解明

2017 - 2020 Functional analysis and modeling in RASopathies

2017 - 2020 Functional analysis of mutants of EVI1 identified in individuals with radioulnar synostosis with amegakaryocytic thrombocytopenia

2019 - ゲノム編集技術を用いた骨髄不全モデルゼブラフィッシュの作成と病態解明

2016 - 2018 Metablic alterarion and growth control in congenital anomaly syndrome

2016 - 2018 Comprehensive genetic analysis of Noonan syndrome and related disorders using next-generation sequencing(Fostering Joint International Research)

2018 - 先天性橈尺骨癒合症のゲノム解析と発症メカニズムの解明

2014 - 2017 Molecular analysis and pathogenesis of the RAS/MAPK syndromes

2014 - 2017 The elucidation of the molecular biologic pathology in the Osteogenesis imperfecta and new molecular target treatment by the Wnt signal pathway.

2014 - 2017 Establishment of comprehensive gene analysis of Noonan syndrome and related disorders

2014 - 2016 Epigenomic regulation in congenital anomaly syndromes

2013 - 2016 Genetic analysis of HPMR syndrome

2011 - 2014 Molecular analysis of congenital anomaly syndromes caused by intracellular signal transduction defects

2011 - 2013 Epigenetic efects of the mutations in patients with the RAS/MAPK syndromes

2011 - 2012 Identification of pathogenic genes for genetic diseases using next-generation sequencing and high-density microarray

2011 - 病因遺伝子の相違に着目したNoonan症候群類縁疾患の成長障害発症メカニズムに関する研究

2009 - 2010 Molecular and biochemical analysis of mutants identified in patients with RAS/MAPK syndromes.

2007 - 2008 Molecular and biochemical analysis of mutants identified in Cardio-facio-cutaneous syndrome

2008 - コステロ症候群患者におけるHRAS遺伝子解析および腫瘍発生メカニズムの解析

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Papers (103)：

Akifumi Nozawa, Taiki Abe, Tetsuya Niihori, Michio Ozeki, Yoko Aoki, Hidenori Ohnishi. Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis. Human molecular genetics. 2024
Rumiko Izumi, Hitoshi Warita, Tetsuya Niihori, Yoshihiko Furusawa, Misa Nakano, Yasushi Oya, Kazuhiro Kato, Takuro Shiga, Kensuke Ikeda, Naoki Suzuki, et al. Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps. Cerebellum (London, England). 2024
Rumiko Izumi, Kensuke Ikeda, Tetsuya Niihori, Naoki Suzuki, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Hitoshi Warita, Maki Tateyama, Yoko Aoki, et al. Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy. Annals of clinical and translational neurology. 2023
阿部太紀, 菅野新一郎, 新堀哲也, 寺尾美穂, 高田修治, 青木洋子. LZTR1欠損はEMT誘導とKLHL12依存的なコラーゲン分泌を制御することで腫瘍増殖と腫瘍転移を促進する. 日本生化学会大会プログラム・講演要旨集. 2023. 96回. [1P-666]
Koki Nagai, Tetsuya Niihori, Akihiko Muto, Yoshikazu Hayashi, Taiki Abe, Kazuhiko Igarashi, Yoko Aoki. Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice. Blood advances. 2023. 7. 18. 5409-5420

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MISC (136)：

新堀哲也, 永井康貴, 武藤哲彦, 林慶和, 阿部太紀, 五十嵐和彦, 青木洋子. Mutation related to MECOM-associated syndrome reduces hematopoietic stem and progenitor cells in mice. 日本小児科学会雑誌. 2024. 128. 2
中野智太, 森谷邦彦, 菊池敦生, 新妻秀剛, 笹原洋二, 舟山亮, 中山啓子, 城田松之, 新堀哲也, 青木洋子, et al. Molecular pathogenesis in two cases of IMAGE-I syndrome with novel POLE mutations. 日本免疫不全・自己炎症学会雑誌(Web). 2023. 2. 2
青木洋子, 新堀哲也, 阿部太紀, 永井康貴. 先天異常症候群のライフステージ全体の自然歴と合併症の把握:Reverse phenotypingを包含したアプローチ RAS信号伝達系に関連する先天異常症候群等,東北地区成育医療施設としての支援機能。コステロ症候群・CFC症候群,先天異常症候群. 先天異常症候群のライフステージ全体の自然歴と合併症の把握:Reverse Phenotypingを包含したアプローチ令和3年度総括・分担研究報告書(Web). 2022
阿部太紀, 森崎佳歩, 新堀哲也, 青木洋子. ユビキチンE3リガーゼ基質アダプターLZTR1はRASプロテオスタシスと腫瘍増殖を制御する. 日本人類遺伝学会大会プログラム・抄録集. 2022. 67th (CD-ROM)
新堀哲也, 永井康貴, 阿部太紀, 青木洋子. 骨髄不全や四肢の先天異常を呈するMECOM異常症での表現型に関連しうるメカニズム. 日本人類遺伝学会大会プログラム・抄録集. 2022. 67th (CD-ROM)

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Lectures and oral presentations (2)：

先天異常症の新規原因遺伝子同定と病態解析
(日本人類遺伝学会第64回大会 2019)
NGS解析における病因解明の戦略~細胞とモデル生物を用いた機能解析
(第42回日本遺伝カウンセリング学会学術集会 2018)

Education (2)：

2002 - 2006 Tohoku University Graduate School of Medicine
1994 - 2000 Tohoku University School of Medicine

Professional career (1)：

博士(医学) (東北大学)

Work history (6)：

2015/10 - 現在 Tohoku University School of Medicine Department of Medical Genetics Associate professor
2016/07 - 2017/07 Duke University Center for Human Disease Modeling Visiting Scholar
2008/10 - 2015/09 Tohoku University School of Medicine Department of Medical Genetics Assistant professor
2006/04 - 2008/09 Tohoku University Hospital Department of Medical Genetics Clinical fellow
2002/04 - 2006/03 Tohoku University Graduate School of Medicine Department of Pediatrics Graduate student

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Committee career (1)：

2015/11 - 現在 Japanese Society of Human Genetics councillor

Awards (6)：

2022/01 - 東北大学医学部、艮陵同窓会医学部奨学賞(金賞)および坂田賞先天異常症の新規原因遺伝子同定と病態解析
2022/01 - 宮城県医師会医学奨励賞先天異常症の新規原因遺伝子同定と病態解析
2019 - The Japan Society of Human Genetics Young Investigator Award Identification and functional analysis of mutations in novel causative genes for congenital malformation syndromes
2013 - The 58th Annual Meeting of the Japan Society of Human Genetics Best oral presentation Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
2008 - The Japan Society of Human Genetics The 1st JHG award Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

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Association Membership(s) (4)：

American Society of Human Genetics , THE JAPANESE SOCIETY FOR GENETIC COUNSELING , THE JAPAN SOCIETY OF HUMAN GENETICS , JAPAN PEDIATRIC SOCIETY

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