Niihori Tetsuya 新堀哲也

… Alternative Names

NIIHORI Tetsuya 新堀哲也

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Researcher Number	40436134
Other IDs
Affiliation (Current)	2025: 東北大学, 医学系研究科, 准教授
Affiliation (based on the past Project Information) *help	2015 – 2025: 東北大学, 医学系研究科, 准教授 2015 – 2016: 東北大学, 医学(系)研究科(研究院), 准教授 2015: 東北大学, 大学院医学系研究科, 准教授 2011 – 2014: 東北大学, 医学(系)研究科(研究院), 助教 2013: 東北大学 … More 2008 – 2012: Tohoku University, 大学院・医学系研究科, 助教 2008: Tohoku University, 大学院医学系研究科, 助教 2007: Tohoku University, 病院, 医員 Less
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 / Basic Section 47060:Clinical pharmacy-related / Medium-sized Section 52:General internal medicine and related fields
Keywords	Principal Investigator CFC症候群 / コステロ症候群 / ヌーナン症候群 / 先天奇形症候群 / EVI1 / 橈尺骨癒合 / 橈尺骨癒合症 / MECOM / 血小板減少症 / ゼブラフィッシュ … More / 次世代シークエンサー / RAS/MAPK症候群 / 先天異常学 / マウス / bone marrow failure / radioulnar synostosis / SMAD6 / 骨髄不全 / HOXA11 / モデル動物 / 遺伝子 / RASopathies / NGS / 遺伝子解析 / Costello症候群 / Noonan症候群 / RAS/MAPK / 遺伝・先天異常学 / MAPK症候群 / RAS / 遺伝子変異 / シグナル伝達 / 遺伝 … More Except Principal Investigator がん原遺伝子 / RAS / ヌーナン症候群 / シグナル伝達 / RASopathies / 遺伝学 / 遺伝性疾患 / RASがん原遺伝子 / 先天異常 / MAPKシグナル伝達経路 / プロテオスタシス / MAPK / がん遺伝子 / Noonan症候群 / RAS/MAPKシグナル伝達経路 / Costello症候群 / 代謝 / BRAF / エクソーム解析 / PPIB / 骨形成不全症 / 遺伝子 / 先天異常症 / モデルマウス / シークエンス / 遺伝子診断 / 低身長 / モデル生物 / 先天性疾患 / 変異 / リンパ管 / リンパ管異形成 / リンパ管内皮 / リンパ管発生 / 難病 / LZTR1 / 先天性心疾患 / がん / 発生異常 / がん遺伝子産物 / 発がん抑制 / AlphaFold2 / 上皮間葉転換(EMT) / COPII / SEC31A / KLHL12 / CUL3 / BTB-Kelchファミリー / プロテアソーム / ユビキチン修飾 / ゼブラフィッシュ / SERPINEF1 / 心臓線維化 / RIT1 / 心疾患 / ヒストン修飾 / CFC症候群 / 心肥大 / 体重増加不良 / コステロ症候群 / アルカリフォスファターゼ / GPIアンカー / 全エクソンシークエンス / HPMR症候群 / Mabry症候群 / 発達遅滞 / GPI / 高アルカリフォスファターゼ血症 / RAS/MAPK / RAS/MAPシグナル伝達経路 / エピゲノム / ビスフォスフォネート治療 / 骨形成不全症症 / COL1A2 / COL1A1 / 肥大型心筋症 / 遺伝子解析 / 癌遺伝子 / Ras / i遺伝子 / 遺伝子変異 / 細胞内シグナル伝達 Less

骨髄不全を伴う先天性症候群の病態解析Principal Investigator
- 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
  
  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
Elucidation of novel mechanisms of RASopathies
- Principal Investigator
  
  青木洋子
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tohoku University
Pathogenesis and development of gene therapy for rare genetic disorders focusing on proteostasis of the RAS-GTPase
- Principal Investigator
  
  阿部太紀
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 47060:Clinical pharmacy-related
- Research Institution
  Tohoku University
Lymphatic abnormalities in RAS related disorders
- Principal Investigator
  
  Aoki Yoko
- Project Period (FY)
  2021 – 2023
- 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
Elucidation of molecular mechanisms of RAS degradation and understanding of LZTR1-related molecular networks
- Principal Investigator
  
  Abe Taiki
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 47060:Clinical pharmacy-related
- Research Institution
  Tohoku University
Pathophysiological analysis of radioulnar synostosis with or without amegakaryocytic thrombocytopeniaPrincipal Investigator
- Principal Investigator
  
  Niihori Tetsuya
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tohoku University
New mechanisms and pathogenesis of Noonan syndrome adn related disorders
- Principal Investigator
  
  Aoki Yoko
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tohoku University
Elucidation of the molecular basis of osteogenesis imperfecta and novel therapy through activation of Wnt signaling and OASIS
- Principal Investigator
  
  KANNO Junko
- Project Period (FY)
  2018 – 2022
- 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 of mutants of EVI1 identified in individuals with radioulnar synostosis with amegakaryocytic thrombocytopeniaPrincipal Investigator
- Principal Investigator
  
  Niihori Tetsuya
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- 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
Comprehensive genetic analysis of Noonan syndrome and related disorders using next-generation sequencing(Fostering Joint International Research)Principal Investigator
- Principal Investigator
  
  Niihori Tetsuya
- Project Period (FY)
  2016 – 2018
- Research Category
  
  Fund for the Promotion of Joint International Research (Fostering Joint International Research)
- 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
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
Establishment of comprehensive gene analysis of Noonan syndrome and related disordersPrincipal Investigator
- Principal Investigator
  
  Niihori Tetsuya
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
The elucidation of the molecular biologic pathology in the Osteogenesis imperfecta and new molecular target treatment by the Wnt signal pathway.
- Principal Investigator
  
  Kanno Junko
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- 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
Genetic analysis of HPMR syndrome
- Principal Investigator
  
  Fujiwara Ikuma
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Molecular analysis of congenital anomaly syndromes caused by intracellular signal transduction defects
- Principal Investigator
  
  MATSUBARA Yoichi
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  National Research Institute for Child Health and Development
  Tohoku University
Identification of pathogenic genes for genetic diseases using next-generation sequencing and high-density microarray
- Principal Investigator
  
  MATSUBARA Yoichi
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Epigenetic efects of the mutations in patients with the RAS/MAPK syndromesPrincipal Investigator
- Principal Investigator
  
  NIIHORI Tetsuya
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Molecular and biochemical analysis of mutants identified in patients with RAS/MAPK syndromes.Principal Investigator
- Principal Investigator
  
  新堀哲也
- Project Period (FY)
  2009 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Molecular and biochemical analysis of mutants identified in Cardio-facio-cutaneous syndromePrincipal Investigator
- Principal Investigator
  
  NIIHORI Tetsuya
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University

[Book] 小児の症候群小児科診療72巻増刊2009
- Author(s)
  青木洋子、新堀哲也
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] LZTR1 deficiency exerts high metastatic potential by enhancing sensitivity to EMT induction and controlling KLHL12-mediated collagen secretion2023
- Author(s)
  Abe Taiki、Kanno Shin-ichiro、Niihori Tetsuya、Terao Miho、Takada Shuji、Aoki Yoko
- Journal Title
  
  Cell Death and Disease
  
  Volume: 14 Issue: 8 Pages: 556-556
- DOI
  10.1038/s41419-023-06072-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-23K06230
[Journal Article] Reduced-intensity conditioning is effective for allogeneic hematopoietic stem cell transplantation in infants with MECOM-associated syndrome2022
- Author(s)
  Irie Masahiro、Katayama Saori、Moriya Kunihiko、Niizuma Hidetaka、Suzuki Nobu、Saito-Nanjo Yuka、Onuma MasaeiIkeda Junji、Kato Motohiro、Takita Junko、Maeda Miho、Aoki Yoko、Imaizumi Masue、Sasahara Yoji
- Journal Title
  
  International Journal of Hematology
  
  Volume: 117 Issue: 4 Pages: 598-606
- DOI
  10.1007/s12185-022-03505-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07791, KAKENHI-PROJECT-20H00528, KAKENHI-PROJECT-20H03637, KAKENHI-PROJECT-19K08855, KAKENHI-PROJECT-21K19405, KAKENHI-PROJECT-23K07286
[Journal Article] Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome2022
- Author(s)
  Nagai K, Niihori T, Okamoto N, Kondo A, Suga K, Ohhira T, Hayabuchi Y, Homma Y, Nakagawa R, Ifuku T, Abe T, Mizuguchi T, Matsumoto N, Aoki Y.
- Journal Title
  
  Hum Mutat
  
  Volume: 43 Issue: 1 Pages: 3-15
- DOI
  10.1002/humu.24287
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08279, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20H03636
[Journal Article] Phenotypic heterogeneity in individuals with MECOM variants in 2 families.2022
- Author(s)
  Niihori T, Tanoshima R, Sasahara Y, Sato A, Irie M, Saito-Nanjo Y, Funayama R, Shirota M, Abe T, Okuyama Y, Ishii N, Nakayama K, Kure S, Imaizumi M, Aoki Y.
- Journal Title
  
  Blood Adv.
  
  Volume: - Issue: 18 Pages: 5257-5261
- DOI
  10.1182/bloodadvances.2020003812
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H03637, KAKENHI-PROJECT-21H02458, KAKENHI-PROJECT-19K08855, KAKENHI-PROJECT-20K07546, KAKENHI-PROJECT-20K08766
[Journal Article] A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy2021
- Author(s)
  Inoue-Shibui Aya、Niihori Tetsuya、Kobayashi Michio、Suzuki Naoki、Izumi Rumiko、Warita Hitoshi、Hara Kenju、Shirota Matsuyuki、Funayama Ryo、Nakayama Keiko、Nishino Ichizo、Aoki Masashi、Aoki Yoko
- Journal Title
  
  Journal of Human Genetics
  
  Volume: NA Issue: 10 Pages: 965-972
- DOI
  10.1038/s10038-021-00916-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K21563, KAKENHI-PROJECT-20H03637, KAKENHI-PROJECT-20K16571, KAKENHI-PROJECT-20K07897
[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] A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease2020
- Author(s)
  Nozawa Akifumi、Ozeki Michio、Niihori Tetsuya、Suzui Natsuko、Miyazaki Tatsuhiko、Aoki Yoko
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 11 Pages: 995-1001
- DOI
  10.1038/s10038-020-0794-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03636
[Journal Article] Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome2019
- Author(s)
  Shoji Y, Ida S, Niihori T, Aoki Y, Okamoto N, Etani Y, Kawai M.
- Journal Title
  
  Endocr J
  
  Volume: 66 Issue: 11 Pages: 983-994
- DOI
  10.1507/endocrj.EJ18-0564
- NAID
  130007751668
- ISSN
  0918-8959, 1348-4540
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10092, 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] Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.2019
- Author(s)
  Suzuki-Muromoto S, Miyabayashi T, Nagai K, Yamamura-Suzuki S, Anzai M, Takezawa Y, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kikuchi A, Niihori T, Aoki Y, Kure S, Haginoya K.
- Journal Title
  
  J Hum Genet.
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K19504
[Journal Article] Recurrent de novo MAPK8IP3 variants cause neurological phenotypes2019
- Author(s)
  Iwasawa Shinya、Yanagi Kumiko、Kikuchi Atsuo、Kobayashi Yasuko、Haginoya Kazuhiro、Matsumoto Hiroshi、Kurosawa Kenji、Ochiai Masayuki、Sakai Yasunari、Fujita Atsushi、Miyake Noriko、Niihori Tetsuya、ら
- Journal Title
  
  Annals of Neurology
  
  Volume: － Issue: 6 Pages: 927-933
- DOI
  10.1002/ana.25481
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-18K19281, KAKENHI-PUBLICLY-18H04795, KAKENHI-PROJECT-17H04035, KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-17H01539
[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] Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome2019
- Author(s)
  Suzuki-Muromoto Sato、Miyabayashi Takuya、Nagai Koki、Yamamura-Suzuki Saeko、Anzai Mai、Takezawa Yusuke、Sato Ryo、Okubo Yukimune、Endo Wakaba、Inui Takehiko、Togashi Noriko、Kikuchi Atsuo、Niihori Tetsuya、Aoki Yoko、Kure Shigeo、Haginoya Kazuhiro
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 5 Pages: 499-504
- DOI
  10.1038/s10038-019-0579-3
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15KK0293, KAKENHI-PROJECT-17H04223
[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] Co-occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death.2018
- Author(s)
  Tamura A, Uemura S, Matsubara K, Kozuki E, Tanaka T, Nino N, Yokoi T, Saito A, Ishida T, Hasegawa D, Umeki I, Niihori T, Nakazawa Y, Koike K, Aoki Y, Kosaka Y.
- Journal Title
  
  Clin Case Rep.
  
  Volume: 6 Issue: 7 Pages: 1202-1207
- DOI
  10.1002/ccr3.1568
- Peer Reviewed
- Data Source
  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] Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.2017
- Author(s)
  Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 173 Issue: 9 Pages: 2346-2352
- DOI
  10.1002/ajmg.a.38337
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K01792, KAKENHI-PROJECT-15KK0293, KAKENHI-PROJECT-17H04223
[Journal Article] A patient with a novel purine-rich element binding protein A (PURA) mutation.2017
- Author(s)
  Okamoto N, Nakao H, Niihori T, Aoki Y.
- Journal Title
  
  Congenit Anom (Kyoto)
  
  Volume: 印刷中 Issue: 6 Pages: 201-204
- DOI
  10.1111/cga.12214
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26293241, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-15KK0293, KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-17H04223
[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] Human genetic variation database, a reference database of genetic variations in the Japanese population.2016
- Author(s)
  Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, (中略), Matsumoto N, Matsuda F.
- Journal Title
  
  J Hum Genet.
  
  Volume: advance online publication Issue: 6 Pages: 547-553
- DOI
  10.1038/jhg.2016.12
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-25860258, KAKENHI-PROJECT-26830064, KAKENHI-PROJECT-26293059, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-16K07137, KAKENHI-PROJECT-15KK0293
[Journal Article] Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.2015
- Author(s)
  Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S.
- Journal Title
  
  Hum Genet.
  
  Volume: 134 Issue: 6 Pages: 649-658
- DOI
  10.1007/s00439-015-1553-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-24591498, KAKENHI-PROJECT-25461536, KAKENHI-PROJECT-15K15024, KAKENHI-PROJECT-26830064, KAKENHI-PROJECT-26293059
[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] Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.2015
- Author(s)
  Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y.
- Journal Title
  
  Am J Hum Genet.
  
  Volume: 97 Issue: 6 Pages: 848-854
- DOI
  10.1016/j.ajhg.2015.10.010
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461562, KAKENHI-PROJECT-26830064
[Journal Article] A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.2015
- Author(s)
  Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, Kosho T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 167 Issue: 2 Pages: 407-411
- DOI
  10.1002/ajmg.a.36842
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26293241, KAKENHI-PROJECT-26461520
[Journal Article] A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.2015
- Author(s)
  Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 167A Issue: 9 Pages: 2223-2225
- DOI
  10.1002/ajmg.a.37135
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461538
[Journal Article] Targeted Next-Generation Sequencing Effectively Analyzed the Cystic Fibrosis Transmembrane Conductance Regulator Gene in Pancreatitis.2015
- Author(s)
  Nakano E, Masamune A, Niihori T, Kume K, Hamada S, Aoki Y, Matsubara Y, Shimosegawa T.
- Journal Title
  
  Dig Dis Sci.
  
  Volume: - Issue: 5 Pages: 1297-1307
- DOI
  10.1007/s10620-014-3476-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520
[Journal Article] Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities.2015
- Author(s)
  Watanabe Y, Shido K, Niihori T, Niizuma H, Katata Y, Iizuka C, Oba D, Moriya K, Saito-Nanjo Y, Onuma M, Rikiishi T, Sasahara Y, Watanabe M, Aiba S, Saito R, Sonoda Y, Tominaga T, Aoki Y, Kure S.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170 Issue: 1 Pages: 189-194
- DOI
  10.1002/ajmg.a.37376
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26670490
[Journal Article] Mutations in PIGL in a patient with Mabry syndrome.2015
- Author(s)
  Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: in press Issue: 4 Pages: 777-785
- DOI
  10.1002/ajmg.a.36987
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25461535, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26830064, KAKENHI-PROJECT-15K15024, KAKENHI-PROJECT-26293059
[Journal Article] Shimosegawa T . Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing2014
- Author(s)
  Ninomiya M, Kondo Y, Niihori T, Nagashima T, Kogure T, Kakazu E, Kimura O, Aoki Y, Matsubara Y
- Journal Title
  
  Hepatol Res
  
  Volume: 44(6) Issue: 6 Pages: 678-684
- DOI
  10.1111/hepr.12168
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148, KAKENHI-PROJECT-25460970
[Journal Article] A girl with Cardio-facio-cutaneous syndrome complicated with status epilepticus and acute encephalopathy2014
- Author(s)
  Wakusawa K, Kobayashi S, Abe Y, Tanaka S, Endo W, Inui T, Iwaki M, Watanabe S, T ogashi N, Nara T, Niihori T, Aoki Y, Haginoya K
- Journal Title
  
  Brain Dev
  
  Volume: 36(1) Issue: 1 Pages: 61-63
- DOI
  10.1016/j.braindev.2012.12.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148
[Journal Article] TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-like Craniofacial Features and Hypocalcemia.2014
- Author(s)
  Ogata T*, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashim S, Kato F, Fukami M, Aoki Y, Matsubara Y
- Journal Title
  
  PLoS One
  
  Volume: 9 Issue: 3 Pages: e91598-e91598
- DOI
  10.1371/journal.pone.0091598
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148, KAKENHI-PLANNED-24119005, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26830064
[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] GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.2014
- Author(s)
  Izumi R, Niihori T, Suzuki N, Sasahara Y, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M.
- Journal Title
  
  Neuromuscul. Disord.
  
  Volume: 24(12) Issue: 12 Pages: 1068-1072
- DOI
  10.1016/j.nmd.2014.07.008
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-23591528, KAKENHI-PROJECT-26293059, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461562, KAKENHI-PROJECT-26670085, KAKENHI-PROJECT-26830064
[Journal Article] Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure2013
- Author(s)
  Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y
- Journal Title
  
  J Hum Genet
  
  Volume: 58(5) Issue: 5 Pages: 259-66
- DOI
  10.1038/jhg.2013.9
- NAID
  10031177220
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23591229, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148, KAKENHI-PUBLICLY-24116503, KAKENHI-PROJECT-24659421, KAKENHI-PROJECT-24700951
[Journal Article] Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome2013
- Author(s)
  Aoki Y, Niihori T, Banio T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T Nakayama K, Inoue S, Watanabe Y, Oeura T, Matsubara Y
- Journal Title
  
  The American Journal of Human Genetics
  
  Volume: Volume 93, Issue 1 Issue: 1 Pages: 173-180
- DOI
  10.1016/j.ajhg.2013.05.021
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-11J08517, KAKENHI-PLANNED-22127006, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148, KAKENHI-PUBLICLY-24116503, KAKENHI-PUBLICLY-24116701, KAKENHI-PROJECT-24370085, KAKENHI-PROJECT-24657127, KAKENHI-PROJECT-24700951, KAKENHI-PROJECT-24790189
[Journal Article] Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans2012
- Author(s)
  Narisawa A
- Journal Title
  
  Hum Mol Genet
  
  Volume: 21 Issue: 7 Pages: 1496-1503
- DOI
  10.1093/hmg/ddr585
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148, KAKENHI-PROJECT-24659486
[Journal Article] Casitas B-cell lymphoma mutation in childhood T -cell acute lymphoblastic leukemia2012
- Author(s)
  Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y
- Journal Title
  
  Leuk Res
  
  Volume: 36(8) Issue: 8 Pages: 1009-15
- DOI
  10.1016/j.leukres.2012.04.018
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659511, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148, KAKENHI-PROJECT-24791054
[Journal Article] Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan2012
- Author(s)
  Abe Y, Aoki Y, Ogata T, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: (accepted)(Epub ahead of print) Issue: 5 Pages: 1083-1094
- DOI
  10.1002/ajmg.a.35292
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23651022, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148
[Journal Article] Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey2012
- Author(s)
  Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y
- Journal Title
  
  Am J Med GenetA
  
  Volume: 158A(5) Pages: 1083-1094
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659513
[Journal Article] A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.2011
- Author(s)
  Kamada F, Aoki Y, Narisawa A, Abe Y, Komatsuzaki S, Kikuchi A, Kanno J, Niihori T, Ono M, Ishii N, Owada Y, Fujimura M, Mashimo Y, Suzuki Y, Hata A, Tsuchiya S, Tominaga T, Matsubara Y, Kure S.
- Journal Title
  
  J Hum Genet 56(1)
  
  Pages: 34-40
- NAID
  10030657293
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] A familial case of LEOP ARD syndrome associated with a high-functioning autism spectrum disorder2011
- Author(s)
  Watanabe Y, Yano S, Niihori T, Aoki Y, Matsubara Y, Yoshino M, Matsuishi T
- Journal Title
  
  Brain Dev
  
  Volume: 33(7) Issue: 7 Pages: 576-9
- DOI
  10.1016/j.braindev.2010.10.006
- NAID
  10031121955
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148
[Journal Article] A genome-wide association study identifies RNF213 as the first Moyamoya disease gene2011
- Author(s)
  Kamada F, et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56(1) Issue: 1 Pages: 34-40
- DOI
  10.1038/jhg.2010.132
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23500956, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513
[Journal Article] HRAS mutants identified in Costello syndrome patients can induce cellular senescence possible implications for the pathogenesis of Costello syndrome2011
- Author(s)
  Niihori T, Ihara K, 他22名
- Journal Title
  
  Hum Genet
  
  Volume: 56(10) Issue: 10 Pages: 707-15
- DOI
  10.1038/jhg.2011.85
- NAID
  10030661239
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591325, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148
[Journal Article] HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome2011
- Author(s)
  Niihori T　ほか
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 707-715
- NAID
  10030661239
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659513
[Journal Article] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation.2010
- Author(s)
  Kobayashi T, Aoki Y, Niihori T, Cave H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y.
- Journal Title
  
  Hum Mutat 31(3)
  
  Pages: 284-294
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.2010
- Author(s)
  Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y.
- Journal Title
  
  J Hum Genet 55(12)
  
  Pages: 801-809
- NAID
  10030737892
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome.2010
- Author(s)
  Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y.
- Journal Title
  
  J Pediatr Hematol Oncol. [Epub ahead of print]
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder.2010
- Author(s)
  Watanabe Y, Yano S, Niihori T, Aoki Y, Matsubara Y, Yoshino M, Matsuishi T.
- Journal Title
  
  Brain Dev [Epub ahead of print]
- NAID
  10031121955
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] cardio-facio-cutaneous(CFC)症候群2009
- Author(s)
  青木洋子、新堀哲也
- Journal Title
  
  小児科診療 72巻増刊
  
  Pages: 31-31
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] Noonan症候群2009
- Author(s)
  青木洋子、新堀哲也
- Journal Title
  
  小児科診療 72巻増刊
  
  Pages: 68-68
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] LEOPARD症候群2009
- Author(s)
  青木洋子、新堀哲也
- Journal Title
  
  小児科診療 72巻増刊
  
  Pages: 60-60
- Data Source
  KAKENHI-PROJECT-21689029
[Journal Article] The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders.2008
- Author(s)
  Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y
- Journal Title
  
  Hum Mutat 29
  
  Pages: 992-1006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19689022
[Journal Article] Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.2008
- Author(s)
  Narumi Y, Aoki Y, Niihori T, Sakurai M, Cave H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y
- Journal Title
  
  J Hum Genet 53
  
  Pages: 834-41
- NAID
  10021929483
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19689022
[Journal Article] CFC and Noonan syndromes due to mutations in RAS/MAPK signaling pathway : genotype/phenotype relationships and overlap with Costello syndrome.2007
- Author(s)
  Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Heron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cave H
- Journal Title
  
  J Med Genet 44
  
  Pages: 763-71
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19689022
[Journal Article] Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome : Overlapping clinical manifestations with Costello syndrome.2007
- Author(s)
  Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y
- Journal Title
  
  Am J Med Genet A 143A
  
  Pages: 799-807
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19689022
[Journal Article] Leukemia in cardio-facio-cutaneous (CFC) syndrome : a patient with a germline mutation in BRAF proto-oncogene.2007
- Author(s)
  Makita Y, Narumi Y, Yoshida Y, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y
- Journal Title
  
  J Pediatr Hematol Oncol 29
  
  Pages: 287-290
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19689022
[Presentation] RASプロテオスタシス破綻に伴うが発がん促進機構の解明2024
- Author(s)
  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
- Organizer
  日本薬学会第144年会
- Data Source
  KAKENHI-PROJECT-23K06230
[Presentation] 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2023
- Author(s)
  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
- Organizer
  第96回日本生化学会
- Data Source
  KAKENHI-PROJECT-23K06230
[Presentation] LZTR1機能不全によるがん原遺伝子産物RASの異常蓄積と腫瘍増殖の亢進2022
- Author(s)
  阿部太紀、森崎佳歩、新堀哲也、青木洋子
- Organizer
  日本生化学会
- Data Source
  KAKENHI-PROJECT-20H03398
[Presentation] LZTR1, a substrate adaptor of ubiquitin E3 ligase, regulates RAS proteostasis and tumor growth2022
- Author(s)
  阿部太紀、森崎佳歩、新堀哲也、青木洋子
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-21K19436
[Presentation] 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2022
- Author(s)
  新堀哲也、永井康貴、阿部太紀、青木洋子
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-20H03637
[Presentation] 幅広い臨床症状を呈したMECOM遺伝子変異を同定した2家系2022
- Author(s)
  新堀哲也、田野島玲大、笹原洋二、佐藤篤、入江正寛、南條由佳、舟山亮、城田松之、阿部太紀、奥山祐子、石井直人、中山啓子、呉繁夫、今泉益栄、青木洋子
- Organizer
  第125回小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-20H03637
[Presentation] LZTR1, a substrate adaptor of ubiquitin E3 ligase, regulates RAS proteostasis and tumor growth2022
- Author(s)
  Taiki Abe, Kaho Morisaki, Tetsuya Niihori, Yoko Aoki
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20H03398
[Presentation] LZTR1機能不全によるがん原遺伝子産物RASの異常蓄積と腫瘍増殖の亢進2022
- Author(s)
  阿部太紀, 森崎佳歩, 新堀哲也, 青木洋子
- Organizer
  第95回日本生化学会大会
- Data Source
  KAKENHI-PROJECT-20H03636
[Presentation] Somatic RASopathies: リンパ管腫症・Gorham病の原因検索2022
- Author(s)
  青木洋子、野澤明史、阿部太紀、新堀哲也、小関道夫
- Organizer
  第29回日本遺伝子診療学会大会
- Data Source
  KAKENHI-PROJECT-20H03636
[Presentation] 幅広い臨床症状を呈したMECOM遺伝子変異を同定した2家系2022
- Author(s)
  新堀哲也、田野島玲大、笹原洋二、佐藤篤、入江正寛、南條由佳、奥山祐子、石井直人、中山啓子、今泉益栄、青木洋子
- Organizer
  第29回日本遺伝診療学会大会
- Data Source
  KAKENHI-PROJECT-20H03637
[Presentation] Somatic RASopathies: リンパ管腫症・Gorham病の原因検索2022
- Author(s)
  青木洋子、野澤明史、阿部太紀、新堀哲也、小関道夫
- Organizer
  第29回日本遺伝子診療学会大会
- Data Source
  KAKENHI-PROJECT-21K19436
[Presentation] 血管奇形の原因遺伝子同定の戦略と課題2021
- Author(s)
  青木洋子、野澤明史、新堀哲也、小関道夫
- Organizer
  第17回日本血管腫血管奇形学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-21K19436
[Presentation] Somatic RASopathies: リンパ管腫症・Gorham病におけるがん原遺伝子RASの関与2021
- Author(s)
  青木洋子、野澤明史、新堀哲也、小関道夫
- Organizer
  第43回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-20H03636
[Presentation] HRAS遺伝子内重複患者の分子学的解析と臨床症状2021
- Author(s)
  永井康貴、新堀哲也、岡本伸彦、近藤朱音、須賀健一、大平智子、早渕康信、　本間友佳子、中川竜二、井福俊允、阿部太紀、水口剛、松本直通、青木洋子
- Organizer
  日本人類遺伝学会第66回大会　第28回日本遺伝子診療学会大会合同開催
- Data Source
  KAKENHI-PROJECT-20H03636
[Presentation] リンパ管疾患と原因遺伝子2021
- Author(s)
  青木洋子、野澤明史、新堀哲也、小関道夫
- Organizer
  第45回　日本リンパ学会総会
- Invited
- Data Source
  KAKENHI-PROJECT-21K19436
[Presentation] がん原遺伝子産物RASの恒常性維持機構の解明2020
- Author(s)
  阿部太紀, 梅木郁美、菅野新一郎, 井上晋一, 新堀哲也, 青木洋子
- Organizer
  第93回日本生化学会
- Data Source
  KAKENHI-PROJECT-20H03398
[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] RRAS2の活性化変異はヌーナン症候群を引き起こす2020
- Author(s)
  新堀哲也、永井康貴、藤田京志、大橋博文、岡本伸彦、岡田賢、原田敦子、木原裕貴、Arbogast Thomas, 舟山亮、城田松之、中山啓子、阿部太紀、井上晋一、Tsai I-Chum、松本直通、Davis Erica, Katsanis Nicholas、青木洋子
- Organizer
  第27回遺伝子診療学会大会
- Data Source
  KAKENHI-PROJECT-20H03636
[Presentation] RRAS2 の活性化変異はヌーナン症候群を引き起こす2020
- Author(s)
  新堀哲也 , 永井康貴 , 藤田京志 , 大橋博文 , 岡本伸彦 , 岡田賢原田敦子木原裕貴 , Thomas Arbogast, 舟山亮 , 城田松之 , 中山啓子 , 阿部太記 , 井上晋一 , I Chun Tsai, 松本直通 , Erica E. Davis, Nicholas Katsanis, 青木洋子
- Organizer
  第 27 回遺伝子診療学会大会
- Data Source
  KAKENHI-PROJECT-20H03637
[Presentation] RRAS2の活性化変異はヌーナン症候群を引き起こす2020
- Author(s)
  新堀哲也、永井康貴、大橋博文、岡本伸彦、岡田賢、木原裕貴、青木洋子
- Organizer
  第123回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] 先天奇形症候群原因分子LZTR1による RASファミリー分解経路の解明2020
- Author(s)
  阿部太紀, 梅木郁美、菅野新一郎, 井上晋一, 新堀哲也, 青木洋子
- Organizer
  第47回日本毒性学会
- Data Source
  KAKENHI-PROJECT-20H03398
[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] 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] 新規コステロ症候群モデルマウスを用いたエネルギー代謝変化の病態解明2019
- Author(s)
  大場大樹、中嶌八隅、新堀哲也、山口清次、松原洋一、青木洋子
- Organizer
  第122回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-18K19504
[Presentation] RRAS2の活性化型生殖細胞変異はNoonan症候群を引き起こす2019
- Author(s)
  新堀哲也, 永井康貴, 藤田京志, 大橋博文, 岡本伸彦, 岡田賢, 原田敦子, 木原裕貴, Thomas Arbogast, 舟山亮, 城田松之, 中山啓子, 阿部太記, 井上晋一, I-Chun Tsai, 松本直通, Erica E. Davis, Nicholas Katsanis, 青木洋子
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K10045
[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] 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] 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] 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-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-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] 日本人骨形成不全症患者の遺伝的背景の解明とアレンドロネート注治療の有用性の検討2018
- Author(s)
  菅野潤子　川嶋明香　島彦仁　曽木千純　梅木郁美　鈴木大　上村美季　新堀哲也　青木洋子　藤原幾磨　呉繁夫
- Organizer
  第121回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07869
[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] 日本人骨形成不全症患者の遺伝的背景の解明とアレンドロネート注治療の有用性の検討2018
- Author(s)
  菅野潤子　川嶋明香　島彦仁　曽木千純　梅木郁美　鈴木大　上村美季　新堀哲也　青木洋子　藤原幾磨　呉繁夫
- Organizer
  第91回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-18K07869
[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] 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] 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] 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] Mutations in MECOM, encoding oncoprotein EVI1, cause radioulnar synostosis with amegakaryocytic thrombocytopenia2016
- Author(s)
  Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y
- Organizer
  13th ICHG
- Place of Presentation
  国立京都国際会館（京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461520
[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] 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] 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] PIGL遺伝子変異はhyperphosphatasia mental retardation（HPMR）症候群（Mabry症候群）の原因となる2015
- Author(s)
  藤原幾磨、村上良子、新堀哲也、菅野潤子、箱田明子、木下タロウ、松原洋一、青木洋子
- Organizer
  第49回日本小児内分泌学会
- Place of Presentation
  東京（タワーホール船堀）
- Year and Date
  2015-10-08
- Data Source
  KAKENHI-PROJECT-25461535
[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] 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] Exome sequencing identifies mutations in RIT1 in patients with Noonan syndrome2013
- Author(s)
  T Niihori, Y Aoki, T Banjo, N Okamoto, S Mizuno, K Kurosawa, T Ogata, F Takada, M Yano, T Ando, T Hoshika, C Barnett, , H Ohashi, H Kawame, T Hasegawa, T Okutani, T Nagashima, S Hasegawa, R Funayama, T Nagashima, K Nakayama, SI Inoue, Y Watanabe, T Ogura, Y Matsubara
- Organizer
  米国人類遺伝学会2013
- Place of Presentation
  ボストン（米国）
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] A mutation in A-band titin is associated with hereditary myopathy with early respiratory failure in a Japanese family2013
- Author(s)
  R. Izumi, T . Niihori, Y. Aoki, N. Suzuki, M. Kato, H. Warita, T . Takahashi, M. Tateyama, T . Nagashima, R. Funayama, K. Abe, K. Nakayama, M. Aoki, Y . Matsubara
- Organizer
  American Society of Human Genetics 63rd Annual Meeting
- Place of Presentation
  米国・ボストン
- Data Source
  KAKENHI-PROJECT-23390268
[Presentation] Myoﬁbrillar myopathyの大家系における次世代型シークエンサーを用いた新たな原因遺伝子の同定2013
- Author(s)
  井泉瑠美子、新堀哲也、青木洋子、鈴木直輝、加藤昌昭、割田仁、高橋俊明、竪山真規、長嶋剛史、舟山亮、阿部康二、中山啓子、青木正志、松原洋一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] エクソーム解析によりTBX1変異が同定された家族性の特徴的顔貌・鼻咽頭閉鎖不全・低Ca血症を呈する5例2013
- Author(s)
  緒方勤、田中紀子、河井昌彦、深見真紀、新堀哲也、青木洋子、松原洋一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] エクソームシークエンスによるNoonan症候群新規原因遺伝子RIT1の同定2013
- Author(s)
  新堀哲也、青木洋子、番匠俊博、岡本伸彦、水野誠司、黒澤健司、緒方勤、高田史男、長谷川奉延、舟山亮、長嶋剛史、中山啓子、井上晋一、渡邊裕介、小椋利彦、松原洋一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] Myofibrillar myopathy の大家系における次世代型シークエンサーを用いた新たな原因遺伝子の同定2013
- Author(s)
  井泉瑠美子, 新堀哲也, 青木洋子, 鈴木直輝, 加藤昌昭, 割田仁, 高橋俊明, 竪山真規, 長嶋剛史, 舟山亮, 阿部康二, 中山啓子, 青木正志, 松原洋一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23390268
[Presentation] エクソーム解析により TBX1変異が同定された家族性の特徴的顔貌・鼻咽頭閉鎖不全・低 Ca 血症を呈する 5 例2013
- Author(s)
  緒方勤, 田中紀子, 河井昌彦, 深見真紀, 新堀哲也, 青木洋子, 松原洋一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23390268
[Presentation] Exome sequencing identifies mutations in a novel gene in patients with Noonan syndrome2013
- Author(s)
  T . Niihori, Y . Aoki, T . Banjo, N. Okamoto, S. Mizuno, K. Kurosawa, T . Ogata, F . Takada, M. Y ano, T . Ando, T . Hoshika, C. Barnett, H. Ohashi, H. Kawame, T . Hasegawa, T . Okutani, T . Nagashima, S. Hasegawa, R. Funayama, T . Nagashima, K. Nakayama, S. Inoue, Y .Watanabe, T . Ogura, Y . Matsubara
- Organizer
  American Society of Human Genetics 63rd Annual Meeting
- Place of Presentation
  米国・ボストン
- Data Source
  KAKENHI-PROJECT-23390268
[Presentation] Exome sequencing identifies mutations in a novel gene in patients with Noonan syndrome2013
- Author(s)
  T. Niihori, Y. Aoki, T. Banjo, N. Okamoto, S. Mizuno, K. Kurosawa, T. Ogata, F. Takada, M. Yano, T. Ando, T. Hoshika, C. Barnett, H. Ohashi, H. Kawame, T. Hasegawa, T. Okutani, T. Nagashima, S. Hasegawa, R. Funayama, T. Nagashima, K. Nakayama, S. Inoue, Y. Watanabe, T. Ogura, Y. Matsubara
- Organizer
  American Society of Human Genetics 63rd Annual Meeting
- Place of Presentation
  米国・ボストン
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] 当分野におけるヌーナン症候群及び類縁疾患の遺伝子解析の現状2013
- Author(s)
  新堀哲也、矢尾板全子、守谷充司、井泉瑠美子、大場大樹、西山亜由美、井上晋一、呉繁夫、松原洋一、青木洋子
- Organizer
  第216回日本小児科学会宮城地方会
- Place of Presentation
  仙台市
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] A mutation in A-band titin is associated with hereditary myopathy with early respiratory failure in a Japanese family2013
- Author(s)
  R. Izumi, T. Niihori, Y. Aoki, N. Suzuki, M. Kato, H. Warita, T. Takahashi, M. Tateyama, T. Nagashima, R. Funayama, K. Abe, K. Nakayama, M. Aoki, Y. Matsubara
- Organizer
  American Society of Human Genetics 63rd Annual Meeting
- Place of Presentation
  米国・ボストン
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] エクソームシークエンスによる Noonan 症候群新規原因遺伝子 RIT1 の同定2013
- Author(s)
  新堀哲也, 青木洋子, 番匠俊博, 岡本伸彦, 水野誠司, 黒澤健司, 緒方勤, 高田史男, 長谷川奉延, 舟山亮, 長嶋剛史, 中山啓子, 井上晋一, 渡邊裕介, 小椋利彦, 松原洋一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-23390268
[Presentation] エクソームシークエンスによるNoonan症候群新規原因遺伝子RIT1の同定2013
- Author(s)
  新堀哲也、青木洋子、番匠俊博、岡本伸彦、水野誠司、黒澤健司、緒方勤、高田史男、長谷川奉延、舟山亮、長嶋剛史、中山啓子、井上晋一、渡邊裕介、小椋利彦、松原洋一
- Organizer
  日本人類遺伝学会第58回大会
- Place of Presentation
  仙台市
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] 東北大学病院遺伝科の現状2012
- Author(s)
  飯倉立夏、青木洋子、新堀哲也、小松崎匠子、松原洋一
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] 東北大学病院遺伝科の現状2012
- Author(s)
  飯倉立夏, 青木洋子, 新堀哲也, 小松崎匠子, 松原洋一
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23390268
[Presentation] Noonan症候群類縁疾患と小児血液腫瘍におけるCBLの分子遺伝学的解析2012
- Author(s)
  齋藤由佳、青木洋子、村松秀樹、今泉益栄、力石健、笹原洋二、呉繁夫、新堀哲也、小島勢二、松原洋一
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23659513
[Presentation] Identification of a susceptibility gene for Moyamoya disease, RNF213 by a genome-wide association study2011
- Author(s)
  S. Kure, F. Kamada, Y. Aoki ,Y. Abe S, Komatsuzaki, A. Kikuch, J.Kanno, T. Niihori, M. Fuji-mura,Y. Mashimo, M. Ono, N. Ishii, Y. Owada, Y. Suzuki, A. Hata,T. Tominaga, Y. Matsubara
- Organizer
  12th International Congress of Human Genetics
- Place of Presentation
  モントリオール、カナダ
- Data Source
  KAKENHI-PROJECT-23659513
[Presentation] コステロ症候群の遺伝子解析およびHRAS変異体の機能解析2011
- Author(s)
  新堀哲也、青木洋子、岡本伸彦、黒澤健司、大橋博文、水野誠司、川目裕、松原洋一
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] コステロ症候群の遺伝子解析およびHRAS変異体の機能解析2011
- Author(s)
  新堀哲也、青木洋子、阿部裕、斎藤由佳、小松崎匠子、松原洋一
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23791148
[Presentation] Epidemiological features of Costello syndrome and cardio-facio-cutaneous syndrome: findings from the first nationwide survey2011
- Author(s)
  Y. Abe, Y. Aoki, S. Kuriyama, H. Kawame, N. Okamoto, K. Kurosawa, H. Ohashi, S. Mizuno, T. Ogata, S. Kure, T. Niihori, Y. Matsubara
- Organizer
  12th International Congress of Human Genetics
- Place of Presentation
  モントリオール、カナダ
- Data Source
  KAKENHI-PROJECT-23659513
[Presentation] HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome2011
- Author(s)
  新堀哲也, 他
- Organizer
  International meeting on genetic syndromes of the Ras/MAPK pathway
- Place of Presentation
  アメリカ、シカゴ
- Data Source
  KAKENHI-PROJECT-23390268
[Presentation] コステロ症候群の遺伝子解析および HRAS 変異体の機能解析2011
- Author(s)
  新堀哲也, 青木洋子, 岡本伸彦, 黒澤健司, 大橋博文, 水野誠司, 川目裕, 松原洋一
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-23390268
[Presentation] Hematologic abnormalities associated with patients with cardio-facio-cutaneous syndrome.2010
- Author(s)
  Saito Y, Aoki Y, Niihori T, Ohtake A, Shibuya A, Sekiguchi K, Suenobu S, Izumi T, Muramatsu H, Kojima S, Kure S, Tsuchiya S, Matsubara Y.
- Organizer
  The American Society of Human Genetics 60th annual meeting.
- Place of Presentation
  ワシントンDC、米国
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-21689029
[Presentation] Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan.2010
- Author(s)
  Abe Y, Aoki Y, Niihori T, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Ogata T, Kuriyama S, Kure S, Matsubara Y.
- Organizer
  The American Society of Human Genetics 60th annual meeting.
- Place of Presentation
  ワシントンDC、米国
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-21689029
[Presentation] SHOC2 mutation analysis in Noonan-like syndrome and hematologic malignancies.2010
- Author(s)
  Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RCM, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y.
- Organizer
  The American Society of Human Genetics 60th annual meeting.
- Place of Presentation
  ワシントンDC、米国
- Year and Date
  2010-11-05
- Data Source
  KAKENHI-PROJECT-21689029
[Presentation] Noonan症候群類縁疾患におけるRAF1遺伝子解析とその発症メカニズムの検討2010
- Author(s)
  松原洋一、小林朋子、新堀哲也、呉繁夫、青木洋子
- Organizer
  第17回日本遺伝子診療学会大会
- Place of Presentation
  津
- Year and Date
  2010-08-06
- Data Source
  KAKENHI-PROJECT-21689029
[Presentation] CFC Syndrome with BRAF mutation at exon 15 in a patient with marked cutaneous symptoms.2009
- Author(s)
  Nishi E. Mizuno S, Niihori T, Aoki Y, Matsubara Y.
- Organizer
  American Society of Human Genetics 59th annual meeting.
- Place of Presentation
  ワイキキ、米国
- Year and Date
  2009-10-23
- Data Source
  KAKENHI-PROJECT-21689029
[Presentation] Noonan症候群類縁疾患(The RAS/MAPK syndromes)の包括的遺伝子解析2009
- Author(s)
  小林朋子、青木洋子、新堀哲也、小松崎匠子、岡本伸彦、黒澤健司、川目裕、大橋博文、水野誠司、松原洋一
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  東京
- Year and Date
  2009-09-24
- Data Source
  KAKENHI-PROJECT-21689029
[Presentation] Noonan症候群類縁疾患の包括的遺伝子解析とSOS1遺伝子変異2008
- Author(s)
  Afag Guliyeva, 青木洋子, 新堀哲也, 鳴海洋子, 小林朋子, 西尾公男, 大橋博文, 黒澤健司, 岡本伸彦, 川目裕, 水野誠司, 近藤達郎, 櫻井雅浩, 青木正志, 呉繁夫, 松原洋一
- Organizer
  日本人類遺伝学会第53回大会
- Place of Presentation
  パシフィコ横浜
- Year and Date
  2008-09-30
- Data Source
  KAKENHI-PROJECT-19689022
[Presentation] Noonan症候群類縁疾患におけるSOS1遺伝子解析と臨床像の検討2008
- Author(s)
  鳴海洋子、青木洋子、新堀哲也、小林朋子、西尾公男、櫻井雅浩、田林晄一、青木正志、大橋博文、岡本伸彦、川目裕、黒澤健司、呉繁夫、松原洋一
- Organizer
  第111回日本小児科学会学術集会
- Place of Presentation
  東京国際フォーラム
- Year and Date
  2008-04-25
- Data Source
  KAKENHI-PROJECT-19689022
[Presentation] 自閉症を合併したcardio-facio-cutaneous(CFC)症候群の一例-BRAF変異と臨床症状の関連について2008
- Author(s)
  谷合弘子、水野誠司、浅井朋子、金山学、鷲見聡、新堀哲也、青木洋子、松原洋一
- Organizer
  日本人類遺伝学会第53回大会
- Place of Presentation
  パシフィコ横浜
- Data Source
  KAKENHI-PROJECT-19689022
[Presentation] Clinical spectrum of patients with SOS1 mutations ranges from Noonan syndrome to cardio-facio-cutaneous syndrome.2008
- Author(s)
  Y. Narumi, Y. Aoki, T. Niihori, M. Sakurai, H. Cave, A. Verloes, K. Nishio, H. Ohashi, K. Kurosawa, N. Okamoto, H. Kawame, M.C. Addor, C. Vincent-Delorme, A. Coeslier-Dieux, M. Aoki, A. Guliyeva, T. Kobayashi, S. Kure, Y. Matsubara
- Organizer
  ASHG 58th Annual Meeting
- Place of Presentation
  フィラデルフィア、米国
- Data Source
  KAKENHI-PROJECT-19689022
[Presentation] Further molecular and clinical characterization in patients with Costello syndrome2007
- Author(s)
  Niihori T, et. al.
- Organizer
  1st International Costello Syndrome Research Symposium 2007
- Place of Presentation
  オレゴン健康科学大学(オレゴン州ポートランド)
- Year and Date
  2007-07-21
- Data Source
  KAKENHI-PROJECT-19689022
[Presentation] Noonan症候群類縁疾患の包括的遺伝子解析と診断システムの考案2007
- Author(s)
  青木洋子, 新堀哲也, 鳴海洋子, 小林朋子, Afag Guliyeva, 川目裕, 黒澤健司, 大橋博文, 岡本伸彦, 西尾公男, 櫻井雅浩, 青木正志, 呉繁夫, 松原洋一
- Organizer
  日本人類遺伝学会第52回大会
- Place of Presentation
  京王プラザホテル(東京)
- Year and Date
  2007-09-13
- Data Source
  KAKENHI-PROJECT-19689022
[Presentation] Further molecular and clinical characterization in patients with Costello syndrome.2007
- Author(s)
  Niihori T, et al.
- Organizer
  1st International Costello Syndrome Research Symposium 2007
- Place of Presentation
  オレゴン健康科学大学(オレゴン州ポートランド)
- Year and Date
  2007-07-21
- Data Source
  KAKENHI-PROJECT-19689022
[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] 次世代シークエンサーを用いた希少遺伝性難病病因遺伝子の探索
- Author(s)
  新堀哲也、井泉瑠美子、西山亜由美、矢尾板全子、大場大樹、守谷充司、井上晋一、舟山亮、城田松之、中山啓子、松原洋一、青木洋子
- Organizer
  第３回生命医薬情報学連合大会
- Place of Presentation
  仙台国際センター（仙台市）
- Year and Date
  2014-10-02 – 2014-10-04
- Data Source
  KAKENHI-PROJECT-26461520
[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] 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] 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

1. AOKI Yoko (80332500)

# of Collaborated Projects: 16 results

# of Collaborated Products: 72 results
2. MATSUBARA Yoichi (00209602)

# of Collaborated Projects: 9 results

# of Collaborated Products: 45 results
3. INOUE Shinichi (70622091)

# of Collaborated Projects: 6 results

# of Collaborated Products: 26 results
4. Abe Taiki (40810594)

# of Collaborated Projects: 6 results

# of Collaborated Products: 19 results
5. Kanno Junko (30509386)

# of Collaborated Projects: 3 results

# of Collaborated Products: 3 results
6. Fujiwara Ikuma (10271909)

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
7. Umeki Ikumi

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
8. KURE Shigeo (10205221)

# of Collaborated Projects: 2 results

# of Collaborated Products: 5 results
9. HAKODA Akiko (70509398)

# of Collaborated Projects: 2 results

# of Collaborated Products: 1 results
10. OBA Daiju

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
11. NISHIYAMA Ayumi

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
12. TAKAHARA Shingo

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
13. 鈴木大 (70814713)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
14. 吉成浩一 (60343399)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. YAOITA Masako

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. Nagai Koki

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
17. MURAKAMI Yoshiko

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
18. Katsanis Nicholas

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
19. Davis Erica E.

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
20. SUZUKI Naoki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. HAYABUCHI Yasunobu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
23. OKADA Satoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. FUKAMI Maki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. MIGITA Ohsuke

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 森谷邦彦

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 青木正志

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 割田仁

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 藤原幾麿

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
31. 植田紀美子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
32. 井原健二

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
33. 笹原洋二

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Niihori Tetsuya 新堀 哲也

NIIHORI Tetsuya 新堀 哲也

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骨髄不全を伴う先天性症候群の病態解析Principal Investigator

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Pathophysiological analysis of radioulnar synostosis with or without amegakaryocytic thrombocytopeniaPrincipal Investigator

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Functional analysis of mutants of EVI1 identified in individuals with radioulnar synostosis with amegakaryocytic thrombocytopeniaPrincipal Investigator

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

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Niihori Tetsuya 新堀哲也

NIIHORI Tetsuya 新堀哲也

[Book] 小児の症候群小児科診療72巻増刊2009