INOUE SHINICHI 井上晋一

Researcher Number	70622091
Other IDs
Affiliation (Current)	2025: 東北大学, 医学系研究科, 助教
Affiliation (based on the past Project Information) *help	2024 – 2025: 東北大学, 医学系研究科, 大学院非常勤講師 2015 – 2020: 東北大学, 医学系研究科, 助教 2013 – 2016: 東北大学, 医学(系)研究科(研究院), 助教 2015: 東北大学, 大学院医学系研究科, 助教
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 52:General internal medicine and related fields
Keywords	Principal Investigator RASopathies / BRAF / CFC症候群 / RAS/MAPKシグナル伝達経路 / 先天性心疾患 / 心臓線維化 / RIT1 / ヌーナン症候群 / 心疾患 / ヒストン修飾 … More / 循環器 / 遺伝子 / 遺伝学 / シグナル伝達 / 成長障害 / 骨格形成異常 / 肥大型心筋症 / イソプロテレノール / マウスモデル / 筋線維芽細胞 / 線維化 / 遺伝性疾患 / 疾患モデルマウス / 先天奇形症候群 / 心臓発生 / リンパ管形成異常 / 骨格異常 / ＢＲＡＦ / ヒストン脱メチル化酵素 / RAS/MAPK … More Except Principal Investigator がん原遺伝子 / RAS / 遺伝学 / ゼブラフィッシュ / Costello症候群 / 代謝 / ヌーナン症候群 / 遺伝子 / シグナル伝達 / 先天異常症 / モデルマウス / 橈尺骨癒合症 / 骨髄不全 / MECOM / RAS/MAPKシグナル伝達経路 / Noonan症候群 / 心肥大 / 体重増加不良 / コステロ症候群 / BRAF / RAS/MAPK / RAS/MAPシグナル伝達経路 / エピゲノム / 遺伝子診断 / 肥大型心筋症 / シークエンス / 遺伝性疾患 Less

Pathogenesis analysis of congenital malformation syndromes with bone marrow failure
- Principal Investigator
  
  新堀哲也
- Project Period (FY)
  2025 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tohoku University
CFC症候群の心疾患におけるヒストン修飾の役割の解明Principal Investigator
- Principal Investigator
  
  井上晋一
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tohoku University
Crosstalk between mechanism of metabolic abnormalies in congenital disorders and cancer cell metabolism
- Principal Investigator
  
  Aoki Yoko
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  Tohoku University
Functional analysis and modeling in RASopathies
- Principal Investigator
  
  Aoki Yoko
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Metablic alterarion and growth control in congenital anomaly syndrome
- Principal Investigator
  
  Aoki Yoko
- Project Period (FY)
  2016 – 2017
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
The functional role of BRAF in cardiac development and bone formationPrincipal Investigator
- Principal Investigator
  
  Inoue Shin-ichi
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Molecular analysis and pathogenesis of the RAS/MAPK syndromes
- Principal Investigator
  
  Aoki Yoko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Epigenomic regulation in congenital anomaly syndromes
- Principal Investigator
  
  Aoki Yoko
- Project Period (FY)
  2014 – 2015
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
BRAF knock-in mice provide a pathogenetic mechanism of developmental defects in CFC syndromePrincipal Investigator
- Principal Investigator
  
  INOUE SHINICHI
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University

All 2020 2019 2018 2017 2016 2015 2014 Other

All Journal Article Presentation

[Journal Article] Costello syndrome model mice with a HRAS G12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis.2020
- Author(s)
  Katata Y, Inoue S-I, Asao A, Kobayashi S, Terui H, Inoue-Shibui A, Abe T, Niihori T, Aiba S, Ishii N, Kure S, Aoki Y
- Journal Title
  
  Cell Death & Disease
  
  Volume: 11 Issue: 8 Pages: 617-617
- DOI
  10.1038/s41419-020-02845-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08766, KAKENHI-PROJECT-20H03637, KAKENHI-PROJECT-18K19504
[Journal Article] LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases2019
- Author(s)
  Abe Taiki、Umeki Ikumi、Kanno Shin-ichiro、Inoue Shin-ichi、Niihori Tetsuya、Aoki Yoko
- Journal Title
  
  Cell Death & Differentiation
  
  Volume: 27 Issue: 3 Pages: 1023-1035
- DOI
  10.1038/s41418-019-0395-5
- NAID
  130007898368
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K15657, KAKENHI-PROJECT-17H04223
[Journal Article] C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome2019
- Author(s)
  Inoue, S., Morozumi, N., Yoshikiyo, K., Maeda, H., Aoki, Y
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 28 Issue: 1 Pages: 74-83
- DOI
  10.1093/hmg/ddy333
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07811
[Journal Article] New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis2019
- Author(s)
  Takahara, S., Inoue, S., Miyagawa-Tomita, S., Matsuura, K., Nakashima, Y., Niihori, T., Matsubara, Y., Saiki, Y., Aoki, Y
- Journal Title
  
  EBioMedicine
  
  Volume: 42 Pages: 43-53
- DOI
  10.1016/j.ebiom.2019.03.014
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07811, KAKENHI-PROJECT-18K19504, KAKENHI-PROJECT-19K08308
[Journal Article] Germline-Activating RRAS2 Mutations Cause Noonan Syndrome2019
- Author(s)
  Niihori Tetsuya、Nagai Koki、Fujita Atsushi、Ohashi Hirofumi、Okamoto Nobuhiko、Okada Satoshi、Harada Atsuko、Kihara Hirotaka、Arbogast Thomas、Funayama Ryo、Shirota Matsuyuki、Nakayama Keiko、Abe Taiki、Inoue Shin-ichi、Tsai I-Chun、Matsumoto Naomichi、Davis Erica E.、Katsanis Nicholas、Aoki Yoko
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: 104 Issue: 6 Pages: 1233-1240
- DOI
  10.1016/j.ajhg.2019.04.014
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18KK0228, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K19281, KAKENHI-PROJECT-18K15657, KAKENHI-PROJECT-17H04223
[Journal Article] Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes2018
- Author(s)
  Umeki Ikumi、Niihori Tetsuya、Abe Taiki、Kanno Shin-ichiro、Okamoto Nobuhiko、Mizuno Seiji、Kurosawa Kenji、Nagasaki Keisuke、Yoshida Makoto、Ohashi Hirofumi、Inoue Shin-ichi、Matsubara Yoichi、Fujiwara Ikuma、Kure Shigeo、Aoki Yoko
- Journal Title
  
  Human Genetics
  
  Volume: 138 Issue: 1 Pages: 21-35
- DOI
  10.1007/s00439-018-1951-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K15657, KAKENHI-PROJECT-17H04223, KAKENHI-PROJECT-15KK0293
[Journal Article] Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis2018
- Author(s)
  Oba Daiju、Inoue Shin-ichi、Miyagawa-Tomita Sachiko、Nakashima Yasumi、Niihori Tetsuya、Yamaguchi Seiji、Matsubara Yoichi、Aoki Yoko
- Journal Title
  
  EBioMedicine
  
  Volume: 27 Pages: 138-150
- DOI
  10.1016/j.ebiom.2017.11.029
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-16K15522, KAKENHI-PROJECT-17H04223
[Journal Article] Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice2017
- Author(s)
  Inoue Shin-Ichi、Takahara Shingo、Yoshikawa Takeo、Niihori Tetsuya、Yanai Kazuhiko、Matsubara Yoichi、Aoki Yoko
- Journal Title
  
  Hum Mol Genet
  
  Volume: 26 Issue: 23 Pages: 4715-4727
- DOI
  10.1093/hmg/ddx354
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-26253016, KAKENHI-PROJECT-16K18389, KAKENHI-PROJECT-17H04223, KAKENHI-PROJECT-15K19598
[Journal Article] Recent advances in RASopathies.2016
- Author(s)
  Aoki Y, Niihori T, Inoue S, Matsubara Y.
- Journal Title
  
  J Hum Genet.
  
  Volume: 61 Issue: 1 Pages: 33-39
- DOI
  10.1038/jhg.2015.114
- NAID
  40020859216
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26293241
[Journal Article] Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.2016
- Author(s)
  Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.
- Journal Title
  
  Hum Genet.
  
  Volume: 135 Issue: 2 Pages: 209-222
- DOI
  10.1007/s00439-015-1627-5
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26293241
[Journal Article] Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.2015
- Author(s)
  Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y.
- Journal Title
  
  Hum Mol Genet.
  
  Volume: 24 Issue: 25 Pages: 7349-7360
- DOI
  10.1093/hmg/ddv435
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26670110, KAKENHI-PROJECT-15K19598, KAKENHI-PUBLICLY-26111703, KAKENHI-PROJECT-25462147, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26293241
[Journal Article] New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.2014
- Author(s)
  Inoue S. I. et al.
- Journal Title
  
  Hum. Mol. Genet.
  
  Volume: 23 Issue: 24 Pages: 6553-6566
- DOI
  10.1093/hmg/ddu376
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PLANNED-22127006, KAKENHI-PROJECT-24370085, KAKENHI-PROJECT-26293241, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26650003, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26860127
[Journal Article] New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome2014
- Author(s)
  Inoue S, Moriya M, Watanabe Y, Miyagawa-Tomita S, Niihori T, Oba D, Ono M, Kure S, Ogura T, Matsubara Y. Aoki Y
- Journal Title
  
  Human Molecular Genetics
  
  Volume: 23 Pages: 6553-6566
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25860839
[Presentation] Costello症候群モデルマウスにおけるアレルゲンによる皮膚炎の誘発と病態メカニズムの解明2020
- Author(s)
  堅田有宇, 堅田有宇, 井上晋一, 浅尾敦子, 小林周平, 小林周平, 照井仁, 井上彩, 阿部太紀, 新堀哲也, 相場節也, 石井直人, 呉繁夫, 青木洋子
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] Metabolic Effects in Mouse Model of Costello Syndrome2019
- Author(s)
  Shin-ichi Inoue, Daiju Oba, Sachiko Miyagawa-Tomita, Yasumi Nakashima, Tetsuya Niihori, Seiji Yamaguchi, Yoichi Matsubara, Yoko Aoki
- Organizer
  6th International RASopathies Symposium:Precision Medicine ; From Promise to Practice
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] Germline-Activationg RRAS2 mutations cause Noonan syndrome2019
- Author(s)
  Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, Harada A, Kihara H, Arbogast T, Funayama R, Shirota M, Nakayama K, Abe T, Inoue SI, Tsai IC, Matsumoto N, Davis EE, Katsanis N, Aoki Y
- Organizer
  6th International RASopathies Symposium:Precision Medicine : From Promise to Practice
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome associated with a Braf mutation2019
- Author(s)
  Inoue, S., Morozumi, N., Yoshikiyo, K., Maeda, H., Aoki, Y
- Organizer
  European Human Genetics Conference Gothenburg, Sweden
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07811
[Presentation] Noonan症候群類縁疾患の網羅的解析とLZTR1の機能解明2019
- Author(s)
  青木洋子、梅木郁美、阿部太紀、岡本伸彦、水野誠司、黒澤健司、長崎啓祐、吉田真、大橋博文、井上晋一, 松原洋一、藤原幾磨、呉繁夫、新堀哲也
- Organizer
  臨床遺伝2019 in Sapporo　第26回日本遺伝子診療学会大会
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] RASopathies : genetic syndromes associated with the Ras/MAPK pathway2019
- Author(s)
  Yoko Aoki, Shin-Ichi Inoue, Taiki Abe, Yu Katata, Aya Shibui-Inoue, Koki Nagai and Tetsuya Niihori
- Organizer
  Tohoku Forum for Creativity Thematic program 2019 International symposium1 Cancer Etiology
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] ZTR1 variants identified by genetic test for RASopathies using a targeted NGS panel.2019
- Author(s)
  Nagai K, Umeki I, Katata Y, Inoue-Shibui , Abe T, Inoue S, Niihori T, Aoki Y.
- Organizer
  6th International RASopathies Symposium:Precision Medicine; From Promise to Practice
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] Noonan syndrome model mice with RIT1 A57G mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis2019
- Author(s)
  Shingo Takahara, Shin-ichi Inoue, Sachiko Miyagawa-Tomita, Katsuhisa Matsuura, Yasumi Nakashima, Tetsuya Niihori, Yoichi Matsubara, Yoshikatsu Saiki and Yoko Aoki
- Organizer
  6th International RASopathies Symposium:Precision Medicine ; From Promise to Practice
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] RIT1 A57G knock-in mice recapitulate features of Noonan syndrome.2019
- Author(s)
  Inoue SI , Takahara S, Miyagawa-Tomita S, Matsuura K, Nakashima Y, Niihori T, Matsubara Y, Saiki Y, Aoki Y.
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] RASopathies : genetic syndromes associated with the Ras/MAPK pathway2019
- Author(s)
  Yoko Aoki, Shin-Ichi Inoue, Taiki Abe, Yu Katata, Aya Shibui-Inoue, Koki Nagai and Tetsuya Niihori
- Organizer
  Tohoku Forum for Creativity Thematic program 2019 International symposium1 Cancer Etiology
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] Gastrointestinal abnormalities and growth retardation in a mouse model for cardio-facio-cutaneous syndrome2018
- Author(s)
  Inoue, S., Takahara, S., Yoshikawa, T., Niihori, T., Yanai, K., Matsubara, Y., Aoki, Y
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-18K07811
[Presentation] The basis of nutritional and metabolic problems in RASopathies:Lessons form mouse models2018
- Author(s)
  Shin-Ichi Inoue and Yoko Aoki
- Organizer
  7th International Meeting on Rare Disorders of the RAS-MAPK Pathway
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] The basis of nutritional and metabolic problems in RASopathies: Lessons from mouse models2018
- Author(s)
  Inoue, S., Aoki, Y.
- Organizer
  7th International Meeting on Rare Disorders of the RAS-MAPK pathway. A workshop preceding the ESHG conference
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07811
[Presentation] Pathogenesis and treatment of esophageal dilation and gastric epithelial hyperplasia in a mouse model for cardio-facio-cutaneous syndrome2018
- Author(s)
  Shin-ichi Inoue, Shingo Takahara, Takeo Yoshikawa, Kazuhiko Yanai, Yoichi Matsubara and Yoko Aoki
- Organizer
  ESHG/EMPAG 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] Pathogenesis and treatment of esophageal dilation and gastric epithelial hyperplasia in a mouse model for cardio-facio-cutaneous syndrome2018
- Author(s)
  Shin-ichi Inoue, Shingo Takahara, Takeo Yoshikawa, Kazuhiko Yanai, Yoichi Matsubara and Yoko Aoki
- Organizer
  ESHG/EMPAG 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] The basis of nutritional and metabolic problems in RASopathies:Lessons form mouse models2018
- Author(s)
  Shin-Ichi Inoue and Yoko Aoki
- Organizer
  7th International Meeting on Rare Disorders of the RAS-MAPK Pathway A workshop precedomg the ESHG conmferemce Milan 2018
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] Pathogenesis and treatment of esophageal dilation and gastric epithelial hyperplasia in a mouse model for cardio-facio-cutaneous syndrome2018
- Author(s)
  Inoue, S., Takahara, S., Yoshikawa, T., Niihori, T., Yanai, K., Matsubara, Y., Aoki, Y
- Organizer
  European Human Genetics Conference Milan, Italy
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07811
[Presentation] Cardio-facio-cutaneous症候群モデルマウスを用いた疾患・病態解明と治療法研究2017
- Author(s)
  井上晋一、守谷充司、宮川-富田幸子、大場大樹、新堀哲也、中嶌八隅、橋美里、大西浩史、呉繁夫、松原洋一、青木洋子
- Organizer
  第6回Multidisciplinary meeting on atherosclerosis
- Data Source
  KAKENHI-PROJECT-15K19598
[Presentation] がん原遺伝子Braf活性化はマウス食道の拡張、前胃上皮の過増殖をもたらす2017
- Author(s)
  井上晋一、高原真吾、吉川雄朗、新堀哲也、谷内一彦、松原洋一、青木洋子
- Organizer
  第40回分子生物学会年会
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] がん原遺伝子Braf活性化はマウス食道の拡張、前胃上皮の過増殖をもたらす2017
- Author(s)
  井上晋一、高原真吾、吉川雄朗、新堀哲也、谷内一彦、松原洋一、青木洋子
- Organizer
  第40回分子生物学会年会
- Data Source
  KAKENHI-PROJECT-15K19598
[Presentation] Therapeutic research in a mouse model of cardio-facio-cutaneous syndrome2016
- Author(s)
  Oba D, Inoue S, Moriya　M, Watanabe Y, Niihori T, Miyagawa-Tomita S, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y
- Organizer
  ICHG 2016 The 13th International Congress of Human Genetics
- Place of Presentation
  京都 (国立京都国際会館）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16K15522
[Presentation] Noonan症候群と類縁疾患における遺伝子診断体制の確立とその病態解明2016
- Author(s)
  青木洋子、梅木郁美、大場大樹、西山亜由美、矢尾板全子、井上晋一、松原洋一、新堀哲也
- Organizer
  第23回　日本遺伝子診療学会大会
- Place of Presentation
  東京　（イイノホール＆カンファレンスセンター）
- Data Source
  KAKENHI-PROJECT-26293241
[Presentation] Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype2016
- Author(s)
  Shin-ichi Inoue
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会館（京都）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K19598
[Presentation] ヌーナン症候群類縁疾患におけるRIT1遺伝子解析と臨床的特徴の検討2016
- Author(s)
  矢尾板全子、大場大樹、梅木郁美、水野誠司、岡本伸彦、井上晋一、松原洋一、呉繁夫、新堀哲也、青木洋子
- Organizer
  第119回日本小児科学会学術集会
- Place of Presentation
  札幌　（ロイトン札幌）
- Year and Date
  2016-05-13
- Data Source
  KAKENHI-PROJECT-26293241
[Presentation] Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype2016
- Author(s)
  Inoue S, Moriya M, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y
- Organizer
  ICHG 2016 The 13th International Congress of Human Genetics
- Place of Presentation
  京都　（国立京都国際会館）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26293241
[Presentation] RASopathiesモデルマウスの作製と治療法開発2015
- Author(s)
  井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
- Organizer
  第4回 Multidisciplinary meeting on atherosclerosis
- Place of Presentation
  仙台トラストシティ（仙台）
- Year and Date
  2015-01-10
- Data Source
  KAKENHI-PROJECT-25860839
[Presentation] Cardio-facio-cutaneous症候群のモデルマウス作製とその病態解析2015
- Author(s)
  青木洋子、井上晋一、守谷充司、大場大樹、新堀哲也、呉繁夫、松原洋一
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  （大阪国際会議場 / リーガロイヤルホテル大阪）
- Year and Date
  2015-04-17
- Data Source
  KAKENHI-PROJECT-26293241
[Presentation] BRAF knock-in mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in RASopathies2015
- Author(s)
  Shin-ichi Inoue, Mitsuji Moriya, Tetsuya Niihori, Daiju Oba, Yoichi Matsubara and Yoko Aoki
- Organizer
  4th international RASopathies symposium
- Place of Presentation
  シアトル、アメリカ (Doubletree at Seattle-Tacoma International Airport)
- Year and Date
  2015-07-17
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26293241
[Presentation] がん原遺伝子BRAFの機能獲得性変異は先天性異常を引き起こす2015
- Author(s)
  井上晋一
- Organizer
  第38回日本分子生物学会年会
- Place of Presentation
  神戸ポートアイランド（神戸）
- Year and Date
  2015-12-01
- Data Source
  KAKENHI-PROJECT-15K19598
[Presentation] Cardio-facio-cutaneous症候群モデルマウスを用いた治療法研究2015
- Author(s)
  井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  東京（京王プラザホテル）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-26670490
[Presentation] Cardio-facio-cutaneous症候群のモデルマウス作製とその病態解析2015
- Author(s)
  青木洋子、井上晋一、守谷充司、大場大樹、新堀哲也、呉繁夫、松原洋一
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  大阪（大阪国際会議場 / リーガロイヤルホテル大阪）
- Year and Date
  2015-04-17
- Data Source
  KAKENHI-PROJECT-26670490
[Presentation] Molecular analysis of RASopathies using next generation sequencer2014
- Author(s)
  Aoki Y, Niihori T, Inoue SI and Matsubara Y
- Organizer
  The 14 th East Asian Union of Human Genetics (EAUHGS) Annual Meeting.
- Place of Presentation
  東京、タワーホール船橋
- Year and Date
  2014-11-20
- Invited
- Data Source
  KAKENHI-PROJECT-26670490
[Presentation] 新規BRAFノックインマウスの作製によるcardio-facio-cutaneous症候群の病態解明と治療法研究
- Author(s)
  井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  タワーホール船堀（東京）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-25860839
[Presentation] BRAFノックインマウス作製によるRASopathiesの病態解明と治療法研究（ポスター）
- Author(s)
  井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
- Organizer
  第37回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜（横浜）
- Year and Date
  2014-11-25 – 2014-11-27
- Data Source
  KAKENHI-PROJECT-25860839
[Presentation] ヌーナン症候群の新規原因遺伝子RIT1の同定
- Author(s)
  青木洋子、新堀哲也、岡本伸彦、水野誠司、黒澤健司、緒方勤、井上晋一、松原洋一
- Organizer
  第117回日本小児科学会学術集会
- Place of Presentation
  名古屋、名古屋国際会議場
- Year and Date
  2014-04-11 – 2014-04-13
- Data Source
  KAKENHI-PROJECT-26670490
[Presentation] BRAF knock-in mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in RASopathies
- Author(s)
  井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
- Organizer
  第37回日本分子生物学会年会
- Place of Presentation
  横浜、パシフィコ横浜
- Year and Date
  2014-11-25 – 2014-11-27
- Data Source
  KAKENHI-PROJECT-26293241
[Presentation] BRAF knock-in mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in RASopathies（口頭）
- Author(s)
  井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
- Organizer
  第37回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜（横浜）
- Year and Date
  2014-11-25 – 2014-11-27
- Data Source
  KAKENHI-PROJECT-25860839
[Presentation] Cardio-facio-cutaneous 症候群のモデルマウス作製とその病態解析
- Author(s)
  青木洋子、井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  大阪国際会議場（大阪）
- Year and Date
  2015-04-17 – 2015-04-19
- Data Source
  KAKENHI-PROJECT-25860839
[Presentation] 新規BRAFノックインマウスの作製によるcardio-facio-cutaneous症候群の病態解明と治療法研究
- Author(s)
  井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  東京、タワーホール船橋
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26670490
[Presentation] ヌーナン症候群の新規原因遺伝子RIT1の同定
- Author(s)
  青木洋子、新堀哲也、岡本伸彦、水野誠司、黒澤健司、緒方勤、井上晋一、松原洋一
- Organizer
  第117回日本小児科学会学術集会
- Place of Presentation
  名古屋、名古屋国際会議場
- Year and Date
  2014-04-11 – 2014-04-13
- Data Source
  KAKENHI-PROJECT-26293241
[Presentation] BrafQ241Rノックインマウスによるcardio-facio-cutaneous症候群の病態解明と治療法研究
- Author(s)
  井上晋一、守谷充司、渡邉裕介、宮川－富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
- Organizer
  第13回日本心臓血管発生研究会
- Place of Presentation
  磐梯熱海温泉ホテル華の湯（福島）
- Year and Date
  2014-10-16 – 2014-10-17
- Data Source
  KAKENHI-PROJECT-25860839

1. Aoki Yoko (80332500)

# of Collaborated Projects: 7 results

# of Collaborated Products: 38 results
2. NIIHORI Tetsuya (40436134)

# of Collaborated Projects: 7 results

# of Collaborated Products: 31 results
3. MATSUBARA Yoichi (00209602)

# of Collaborated Projects: 5 results

# of Collaborated Products: 25 results
4. OBA Daiju

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
5. NISHIYAMA Ayumi

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
6. UMEKI Ikumi

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
7. TAKAHARA Shingo

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
8. YAOITA Masako

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. OKADA Satoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 石井直人

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 阿部太紀

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results

INOUE SHINICHI 井上 晋一

Research Projects

Research Products

Co-Researchers

Pathogenesis analysis of congenital malformation syndromes with bone marrow failure

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

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

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

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

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Functional analysis and modeling in RASopathies

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Metablic alterarion and growth control in congenital anomaly syndrome

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

The functional role of BRAF in cardiac development and bone formationPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Molecular analysis and pathogenesis of the RAS/MAPK syndromes

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Epigenomic regulation in congenital anomaly syndromes

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

BRAF knock-in mice provide a pathogenetic mechanism of developmental defects in CFC syndromePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Costello syndrome model mice with a HRAS G12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis.2020

Author(s)

Journal Title

DOI

Data Source

[Journal Article] LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases2019

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] C-type natriuretic peptide improves growth retardation in a mouse model of cardio-facio-cutaneous syndrome2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis2019

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Germline-Activating RRAS2 Mutations Cause Noonan Syndrome2019

INOUE SHINICHI 井上晋一