Aoki Yoko 青木洋子

… Alternative Names

AOKI Yoko 青木洋子

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Researcher Number	80332500
Other IDs
Affiliation (Current)	2025: 東北大学, 医学系研究科, 教授
Affiliation (based on the past Project Information) *help	2016 – 2024: 東北大学, 医学系研究科, 教授 2015 – 2016: 東北大学, 医学(系)研究科(研究院), 教授 2014: 東北大学, 医学(系)研究科(研究院), 准教授 2012: 東北大学, 大学院・医学系研究科, 准教授 2011: Tohoku University, 医学(系)研究科(研究院), 准教授 … More 2007 – 2010: Tohoku University, 大学院・医学系研究科, 准教授 2008: 東北大, 医学(系)研究科(研究院), 助教 2008: 東北大学, 大学院・医学系研究科, 教授 2007: Tohoku University, 大学院・医学系研究科, Assistant Professor 2006: Tohoku University, Graduate School of Medicine, Research Associate, 大学院医学系研究科, 助手 2001 – 2005: 東北大学, 大学院・医学系研究科, 助手 2004: 東北大学, 大学院・医学研究科, 助手 2002: 東北大学, 医学系研究科, 助手 Less
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Medium-sized Section 52:General internal medicine and related fields / Human genetics / Neurochemistry/Neuropharmacology Except Principal Investigator Pediatrics / Basic Section 47060:Clinical pharmacy-related / Basic Section 52050:Embryonic medicine and pediatrics-related / Human genetics / Biological Sciences / Basic Section 56070:Plastic and reconstructive surgery-related / Pediatrics
Keywords	Principal Investigator シグナル伝達 / がん原遺伝子 / RAS / ヌーナン症候群 / 遺伝学 / 先天異常 / 遺伝子診断 / チロシンホスファターゼ / RASがん原遺伝子 / Costello症候群 … More / 代謝 / がん遺伝子 / 遺伝子 / 先天異常症 / モデルマウス / Noonan症候群 / 癌遺伝子 / Ras / PTPN11 / 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 / 先天性心疾患 / RAS/MAPKシグナル伝達経路 / ゼブラフィッシュ / 心肥大 / 体重増加不良 / コステロ症候群 / Tyrosine phosphatase / proto-oncogene / Multiple congenital anomaly / RAF / 先天奇形症候群 / BRAF / RAS/MAPK / RAS/MAPシグナル伝達経路 / エピゲノム / 肥大型心筋症 / シークエンス / 遺伝性疾患 / 発生 / 癌原遺伝子 / 遺伝・先天異常学 / 奇形症候群 / 白血病 / MAPK / SHP-2 / EGFP / 神経幹細胞 / loxP / Cre / トランスジェニックマウス / ニューロン … More Except Principal Investigator RAS / 遺伝子変異 / ヌーナン症候群 / シグナル伝達 / 遺伝子診断 / CFC症候群 / RASopathies / 遺伝子解析 / MAPK / コステロ症候群 / 先天奇形症候群 / MAPKシグナル伝達経路 / プロテオスタシス / EVI1 / 橈尺骨癒合 / 橈尺骨癒合症 / MECOM / 血小板減少症 / がん遺伝子 / DNA diagnosis / 癌遺伝子 / 脳神経疾患 / 癌 / 遺伝子 / 難病 / Noonan症候群 / LZTR1 / PI3Kα遺伝子 / PROS / 難治性脈管奇形 / PIK3CA / 組織採取 / 脈管奇形 / クリッペル・トレノーネイ症候群 / マウス / ゼブラフィッシュ / bone marrow failure / radioulnar synostosis / SMAD6 / 骨髄不全 / がん / がん原遺伝子 / 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 / 心臓線維化 / RIT1 / RAS/MAPKシグナル伝達経路 / BRAF / 心疾患 / ヒストン修飾 / HOXA11 / oncogene / genetic mutation / signal transduction / CFC syndrome / Costello syndrome / Noonan syndrome / Congenital anomaly syndrome / Pharmacogenetics / Test strip / Immunochromalography / Point-of-care genetic diagnosis / Single nucleotide polymorphism / Mutation / 薬物代謝酵素 / 遺伝子多型 / 遺伝薬理学 / 試験紙 / 免疫クロマトグラフィー / ベッドサイド遺伝子診断 / SNP / 遺伝子診断法 / pharmaconenetics / hyperglycinemia / glycogen storage disease / phenylkeonuria / single gene disorders / 薬物代謝酵素多型 / 高グリシン血症 / 糖原病 / フェニルケトン尿症 / 単一遺伝子病 / NGS / 次世代シークエンサー / シークエンス / 遺伝性疾患 / 遣伝子変異 / 疾患モデルマウス / 細胞内シグナル伝達 / 先天異常学 / 遺伝 / 発癌 / プロテーム / データベース / ゲノム情報 / 遺伝学 Less

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 RASopathiesPrincipal Investigator
- 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
Elucidation of pathogenesis and development of new treatment for refractory vascular malformation syndrome by genetic analysis
- Principal Investigator
  
  長尾宗朝
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 56070:Plastic and reconstructive surgery-related
- Research Institution
  Tohoku University
Lymphatic abnormalities in RAS related disordersPrincipal Investigator
- 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 thrombocytopenia
- 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 disordersPrincipal Investigator
- 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
Crosstalk between mechanism of metabolic abnormalies in congenital disorders and cancer cell metabolismPrincipal Investigator
- 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 thrombocytopenia
- 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 RASopathiesPrincipal Investigator
- 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 syndromePrincipal Investigator
- 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 syndromesPrincipal Investigator
- 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 disorders
- 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
Epigenomic regulation in congenital anomaly syndromesPrincipal Investigator
- 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
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
癌遺伝子関連ゲノム情報を活用した先天奇形症候群原因遺伝子の同定
- Principal Investigator
  
  松原洋一
- Project Period (FY)
  2008 – 2009
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Tohoku University
Molecular analysis of congenital anomaly syndromes caused by impaired intracellular signaling pathways
- Principal Investigator
  
  MATSUBARA Yoichi
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
ヌーナン症候群類縁疾患の分子診断と臨床症状の検討による疾患概念の再構築Principal Investigator
- Principal Investigator
  
  青木洋子
- Project Period (FY)
  2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
シグナル伝達マップ作成とプロテオーム解析による先天奇形症候群の病因遺伝子探索
- Principal Investigator
  
  松原洋一
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Exploratory Research
- Research Field
  
  Human genetics
- Research Institution
  Tohoku University
Novel functions of proto-oncogenes in human developmentPrincipal Investigator
- Principal Investigator
  
  AOKI Yoko
- Project Period (FY)
  2007 – 2011
- Research Category
  
  Grant-in-Aid for Young Scientists (S)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
癌遺伝子関連ゲノム情報を活用した先天奇形症候群原因遺伝子の同定
- Principal Investigator
  
  MATSUBARA Yoichi
- Project Period (FY)
  2006 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Tohoku University
Molecular analysis of congenital anomaly syndromes due to mutations in signal transduction pathways
- Principal Investigator
  
  MATSUBARA Yoichi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
Identification of novel disease genes for Noonan-related syndromesPrincipal Investigator
- Principal Investigator
  
  AOKI Yoko
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tohoku University
ヌーナン症候群の遺伝子解析とその成因についての分子遺伝学的研究Principal Investigator
- Principal Investigator
  
  青木洋子
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Human genetics
- Research Institution
  Tohoku University
DEVELOPMENT OF A NOVEL POINT-OF-CARE GENETIC TESTING METHOD
- Principal Investigator
  
  MATSUBARA Youichi
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  TOHOKU UNIVERSITY
チロシン脱リン化酵素SHP2の脳における機能についてPrincipal Investigator
- Principal Investigator
  
  青木洋子
- Project Period (FY)
  2001 – 2002
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Neurochemistry/Neuropharmacology
- Research Institution
  Tohoku University
COMPREHENSIVE DNA DIAGNOSTIC SYSTEM FOR SINGILE GENE DISORDERS
- Principal Investigator
  
  MATSUBARA Yoichi
- Project Period (FY)
  2001 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  TOHOKU UNIVERSITY

[Book] Inborn Errors of Development(eds. Epstein, C., Eickson, R, Wynshaw-Boris, A., 2nd ed.)2008
- Author(s)
  Aoki, Y, Matsubara, Y. HRAS, Costello syndrome
- Publisher
  Oxford University Press
- Data Source
  KAKENHI-PROJECT-19679005
[Book] Inborn Errors of Development 2nd ed2008
- Author(s)
  青木洋子、松原洋一
- Total Pages
  1617
- Publisher
  Oxford University Press
- Data Source
  KAKENHI-PROJECT-20018001
[Book] Inborn Errors of Development 2nd ed2008
- Author(s)
  青木洋子,松原洋一
- Total Pages
  1617
- Publisher
  Oxford University Press
- Data Source
  KAKENHI-PROJECT-19659083
[Book] Inborn Errors of Development 2nd ed2008
- Author(s)
  青木洋子、松原洋一
- Total Pages
  1617
- Publisher
  Oxford University Press
- Data Source
  KAKENHI-PROJECT-20390290
[Book] シグナル伝達病を知る : その分子機序解明から新たな治療戦略まで2006
- Author(s)
  青木洋子, 松原洋一
- Total Pages
  328
- Publisher
  メディカルドゥ
- Data Source
  KAKENHI-PROJECT-18390296
[Book] シグナル伝達病を知る:その分子機序解明から新たな治療戦略まで2006
- Author(s)
  青木洋子、松原洋一
- Total Pages
  328
- Publisher
  メディカルドゥ
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Book] シグナル伝達病を知る : その分子機序解明から新たな治療戦略まで2006
- Author(s)
  青木洋子, 松原洋一
- Total Pages
  328
- Publisher
  メディカルドゥ
- Data Source
  KAKENHI-PROJECT-18018001
[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] The molecular genetics of RASopathies : An update on novel disease genes and new disorders2022
- Author(s)
  Tartaglia Marco、Aoki Yoko、Gelb Bruce D.
- Journal Title
  
  American Journal of Medical Genetics Part C: Seminars in Medical Genetics
  
  Volume: 190 Issue: 4 Pages: 425-439
- DOI
  10.1002/ajmg.c.32012
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19436, KAKENHI-PROJECT-20H03636
[Journal Article] Comprehensive targeted next-generation sequencing in patients with slow-flow vascular malformations2022
- Author(s)
  Nozawa Akifumi、Fujino Akihiro、Yuzuriha Shunsuke、Suenobu Souichi、Kato Aiko、Shimizu Fumiaki、Aramaki-Hattori Noriko、Kuniyeda Kanako、Sakaguchi Kazuya、Ohnishi Hidenori、Aoki Yoko、Ozeki Michio
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 12 Pages: 721-728
- DOI
  10.1038/s10038-022-01081-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-21K07838, KAKENHI-PROJECT-21K19436
[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] Multidisciplinary Management of Costello Syndrome: Current Perspectives2022
- Author(s)
  Leoni Chiara、Viscogliosi Germana、Tartaglia Marco、Aoki Yoko、Zampino Giuseppe
- Journal Title
  
  Journal of Multidisciplinary Healthcare
  
  Volume: Volume 15 Pages: 1277-1296
- DOI
  10.2147/jmdh.s291757
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19436, KAKENHI-PROJECT-20H03636
[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] Severe neuroglycopenicsymptoms due to nonketotic hypoglycemia in children withcardio-facio-cutaneous syndrome.2022
- Author(s)
  Shiohama, T., Fujii, K., Kosaki, R.,Watanabe, Y., Uchida, T., Hagiwara, S., Kinoshita, K., Sugita, K.,Aoki, Y., Shimojo, N.
- Journal Title
  
  American Journal of Medical Genetics
  
  Volume: 18A Issue: 12 Pages: 3505-3509
- DOI
  10.1002/ajmg.a.62926
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K21746, KAKENHI-PROJECT-20H03636
[Journal Article] Cardiac features of Noonan syndrome in Japanese patients2022
- Author(s)
  Ichikawa Yasuhiro、Kuroda Hiroyuki、Ikegawa Takeshi、Kawai Shun、Ono Shin、Kim Ki-Sung、Yanagi Sadamitsu、Kurosawa Kenji、Aoki Yoko、Ueda Hideaki
- Journal Title
  
  Cardiology in the Young
  
  Volume: Apr 27 Issue: 4 Pages: 1-6
- DOI
  10.1017/s104795112200124x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03636
[Journal Article] Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans2021
- Author(s)
  Gualtieri A, (21人) ,Aoki Y, Dattani MT, Gaston-Massuet C
- Journal Title
  
  Nature Communications
  
  Volume: 12 Issue: 1 Pages: 2028-2028
- DOI
  10.1038/s41467-021-21712-4
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19436
[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] A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy2021
- Author(s)
  Ando Yoshihito、Sawada Mikio、Kawakami Tadataka、Morita Mitsuya、Aoki Yoko
- Journal Title
  
  Case Reports in Neurology
  
  Volume: 13 Issue: 1 Pages: 108-118
- DOI
  10.1159/000512265
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03636
[Journal Article] Characterization of kaposiform lymphangiomatosis tissue‐derived cells2021
- Author(s)
  Nozawa Akifumi、Ozeki Michio、Yasue Shiho、Endo Saori、Noguchi Kei、Kanayama Tomohiro、Tomita Hiroyuki、Aoki Yoko、Ohnishi Hidenori
- Journal Title
  
  Pediatric Blood & Cancer
  
  Volume: 68 Issue: 10
- DOI
  10.1002/pbc.29086
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07838, KAKENHI-PROJECT-21K19436
[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] Double‐chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome2020
- Author(s)
  Yamamoto Masahiro、Takashio Seiji、Nakashima Naoya、Hanatani Shinsuke、Arima Yuichiro、Sakamoto Kenji、Yamamoto Eiichiro、Kaikita Koichi、Aoki Yoko、Tsujita Kenichi
- Journal Title
  
  ESC Heart Failure
  
  Volume: 2 Issue: 2 Pages: 721-726
- DOI
  10.1002/ehf2.12650
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K16015, KAKENHI-PROJECT-18K19504, KAKENHI-PROJECT-20H03636
[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] 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] 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] 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] 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] Bilateral giant coronary aneurysms in a 40-year-old male with Noonan syndrome caused by a KRAS germline mutation.2014
- Author(s)
  Fujimoto N, Nakajima H, Sugiura E, Dohi K, Kanemitsu S, Yamada N, Aoki Y, Nakatani K, Shimpo H, Nobori T, Ito M
- Journal Title
  
  Int J Cadiol
  
  Volume: 173 Issue: 3 Pages: e63-e66
- DOI
  10.1016/j.ijcard.2014.03.135
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24590693, KAKENHI-PROJECT-26670490
[Journal Article] Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.2014
- Author(s)
  Flex E , (33人）、Aoki Y, Loh ML, Palleschi A, Di Schiavi E, Carè A, Selicorni A, Dallapiccola B, Cirstea IC, Stella L, Zenker M, Gelb BD, Cavé H, Ahmadian MR, Tartaglia M.
- Journal Title
  
  Hum Mol Genet.
  
  Volume: 23 Issue: 16 Pages: 4315-4327
- DOI
  10.1093/hmg/ddu148
- Peer Reviewed
- Data Source
  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] 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] A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene2013
- Author(s)
  Asano M, et al.
- Journal Title
  
  Acta Derm Venereol
  
  Volume: 93 Issue: 1 Pages: 120-121
- DOI
  10.2340/00015555-1399
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659513
[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] 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] Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 52011
- Author(s)
  Ohashi H, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(1) Issue: 1 Pages: 192-196
- DOI
  10.1002/ajmg.a.33764
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659513
[Journal Article] Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination2011
- Author(s)
  Aizaki K, Sugai K, Saito Y, Nakagawa E, Sasaki M, Aoki Y, Matsubara Y
- Journal Title
  
  Brain Dev
  
  Volume: 33(2) Pages: 166-9
- NAID
  10029560675
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His2011
- Author(s)
  Wakabayashi Y, et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(10) Issue: 10 Pages: 2529-2533
- DOI
  10.1002/ajmg.a.34194
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659513
[Journal Article] Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from Chromosome2011
- Author(s)
  Ohashi H, Suzumori K, Chisaka Y, Sonta S, Kobayashi T, Aoki Y, Matsubara Y, Sone M, Shaffer LG
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A(1) Pages: 192-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination2011
- Author(s)
  Aizaki K, Sugai K, Saito Y, Nakagawa E, Sasaki M, Aoki Y, Matsubara Y
- Journal Title
  
  Brain Dev
  
  Volume: 33(2) Issue: 2 Pages: 166-169
- DOI
  10.1016/j.braindev.2010.03.008
- NAID
  10029560675
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659513
[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, 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
  
  Volume: 56(1) Pages: 34-40
- NAID
  10030657293
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[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] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation2010
- 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
  
  Human Mutation
  
  Volume: 31(3) Pages: 284-94
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder2010
- Author(s)
  Watanabe Y, Yano S, Niihori T, Aoki Y, Matsubara Y, Yoshino M, Matsuishi T
- Journal Title
  
  Brain Dev
- NAID
  10031121955
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] Non-Hodgkin Lymphoma in a Patient With Cardiofaciocutaneous Syndrome2010
- Author(s)
  Ohtake A, Aoki Y, Saito Y, Niihori T, Shibuya A, Kure S, Matsubara Y
- Journal Title
  
  J Pediatr Hematol Oncol
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies2010
- 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
  
  Volume: 55(12) Pages: 801-809
- NAID
  10030737892
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation2010
- Author(s)
  Kobayashi T, *Aoki Y, et al.
- Journal Title
  
  Hum Mutat 31
  
  Pages: 284-294
- Data Source
  KAKENHI-PROJECT-19679005
[Journal Article] The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders2008
- Author(s)
  Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y
- Journal Title
  
  Hum Mutat
  
  Volume: 29(8) Pages: 992-1006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders2008
- Author(s)
  Aoki Y, et.al.
- Journal Title
  
  Hum Mutat 29(8)
  
  Pages: 992-1006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19659083
[Journal Article] The Ras/MAPK syndromes: novel roles of the RAS pathway in human genetic disoreders2008
- Author(s)
  Aoki Y, et. al.
- Journal Title
  
  Hum Mutat (印刷中)
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Model mice for mild-form glycine encephalopathy : behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor2008
- Author(s)
  Kojima-ishii K, Kure S, Ichinohe A, Shinka T, Narisawa A, Komatsuzaki S, Kanno J, Kamada F, Aoki Y, Yokoyama H, Oda M, Sugawara T, Mizoi K, Nakahara D, Matsubara Y
- Journal Title
  
  Pediatr Res
  
  Volume: 64 Pages: 228-233
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome : Proceedings from the 1st International Costello Syndrome Research Symposium 2007.2008
- Author(s)
  Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L
- Journal Title
  
  Am J Med Genet A
  
  Volume: 146A(9) Pages: 1205-17
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] The RAS / MAPK syndromes : novel roles of the RAS pathway in human genetic disorders2008
- Author(s)
  Aoki Y, et.al.
- Journal Title
  
  Hum Mutat 29(8)
  
  Pages: 992-1006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders2008
- Author(s)
  *Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y
- Journal Title
  
  Hum Mutat 29
  
  Pages: 992-1006
- Data Source
  KAKENHI-PROJECT-19679005
[Journal Article] Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome2008
- Author(s)
  Narumi Y, *Aoki Y, et al.
- Journal Title
  
  J Hum Genet 53
  
  Pages: 834-841
- NAID
  10021929483
- Data Source
  KAKENHI-PROJECT-19679005
[Journal Article] Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome2008
- 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
  
  Volume: 53 Pages: 834-841
- NAID
  10021929483
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] Association of the GABRB3 gene with nonsyndromic oral clefts2008
- Author(s)
  Inoue H, Kayano S, Aoki Y, Kure S, Yamada A, Hata A, Matsubara Y, Suzuki Y
- Journal Title
  
  Cleft Palate Craniofac J
  
  Volume: 45(3) Pages: 261-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390290
[Journal Article] The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders2008
- Author(s)
  Aoki Y, et.al.
- Journal Title
  
  Hum Mutat 29(8)
  
  Pages: 992-1006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20018001
[Journal Article] Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene2007
- Author(s)
  Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y.
- Journal Title
  
  J Pediatr Hematol Oncol 29
  
  Pages: 287-290
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Human development and the RAS/MAPK pathway (in Japanese)2007
- Author(s)
  Aoki Y, Matsubara Y.
- Journal Title
  
  Seikagaku 79
  
  Pages: 34-38
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] ヒト発生とRAS/MAPKシグナル伝達2007
- Author(s)
  青木洋子、松原洋一
- Journal Title
  
  生化学
  
  Pages: 34-38
- NAID
  10018514179
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome2007
- 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
  
  Am J Med Genet 44
  
  Pages: 763-771
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system2007
- Author(s)
  Oda M, Kure S, Sugawara T, Yamaguchi S, Kojima K, Shinka T, Sato K, Narisawa A, Aoki Y, Matsubara Y, Omae T, Mizoi K, Kinouchi H.
- Journal Title
  
  Stroke 38
  
  Pages: 2157-2164
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Molecular and Clinical Characterization of Cardio-facio-cutaneous (CFC) syndrome : Overlapping Cliniaical Manifestations with Costello Syndrome.2007
- Author(s)
  Narumi Y, Aoki Y et al.
- Journal Title
  
  Am J Med Genet Part A 143A
  
  Pages: 799-807
- Data Source
  KAKENHI-PROJECT-17591068
[Journal Article] Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis2007
- Author(s)
  Kanno J, Kure S, Narisawa A, Kamada F, Takayanagi M, Yamamoto K, Hoshino H, Goto T, Takahashi T, Haginoya K, Tsuchiya S, Baumeister FA, Hasegawa Y, Aoki Y, Yamaguchi S, Matsubara Y.
- Journal Title
  
  Mol Genet Metab 91
  
  Pages: 384-389
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Human development and the RAS/MAPK pathway2007
- Author(s)
  Aoki Y et al.
- Journal Title
  
  Seikagaku 79
  
  Pages: 34-38
- NAID
  10018514179
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591068
[Journal Article] Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome2007
- 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
  
  J Med Genet A 143
  
  Pages: 799-807
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia2007
- Author(s)
  Kanno J, Hutchin T, Kamada F, Narisawa A, Aoki Y, Matsubara Y, Kure S.
- Journal Title
  
  J Med Genet 44
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] RAS/MAPKシグナル伝達とヒト先天異常症2006
- Author(s)
  青木洋子, 松原洋一
- Journal Title
  
  遺伝子医学Mook 「シグナル伝達病を知る」 6
  
  Pages: 306-312
- Data Source
  KAKENHI-PROJECT-17591068
[Journal Article] Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia2006
- Author(s)
  Kure S, Kato K, Dinopoulos A, Gail C, DeGrauw TJ, Christodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, Plecko B, Breningstall G, Tohyama J, Aoki Y, Matsubara Y.
- Journal Title
  
  Hum Mutat 27
  
  Pages: 343-352
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation2006
- Author(s)
  Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y.
- Journal Title
  
  J Hum Genet 51
  
  Pages: 455-460
- NAID
  10019168005
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test2006
- Author(s)
  Kure S, Korman SH, Kanno J, Narisawa A, Kubota M, Takayanagi T, Takayanagi M, Saito T, Matsui A, Kamada F, Aoki Y, Ohura T, Matsubara Y.
- Journal Title
  
  Ann Neurol 59
  
  Pages: 862-867
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] RAS/MAPK signal transduction pathway and Congenital anomalies2006
- Author(s)
  Aoki Y. Matsubara Y.
- Journal Title
  
  Signal Tranduction Diseases (Medical-Do)
  
  Pages: 306-311
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome2006
- Author(s)
  Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y.
- Journal Title
  
  Nat Genet 38
  
  Pages: 294-296
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Journal Article] Germline mutations in HRAS proto-oncogene cause Costello syndrome2005
- Author(s)
  Aoki, Y. et al.
- Journal Title
  
  Nat Genet 37
  
  Pages: 1038-1040
- Data Source
  KAKENHI-PROJECT-17591068
[Journal Article] Germline mutations in HRAS proto-oncogene cause Costello syndrome.2005
- Author(s)
  Aoki, Y. et al.
- Journal Title
  
  Nat Genet 37
  
  Pages: 1038-1040
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591068
[Journal Article] The Ras/MAPK syndromes: novel roles of the RAS pathway in humna genetic disorders
- Author(s)
  Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y.
- Journal Title
  
  Hum Mutat (in press)
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Patent] コステロ症候群原因遺伝子変異とその検出または診断方法2005
- Inventor(s)
  松原洋一, 青木洋子
- Industrial Property Rights Holder
  東北大学
- Filing Date
  2005-08-29
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17591068
[Patent] コステロ症候群原因遺伝子変異とその検出または診断方法
- Inventor(s)
  松原洋一, 青木洋子
- Industrial Property Rights Holder
  東北大学
- Data Source
  KAKENHI-PROJECT-17591068
[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] 当院におけるKlippel Trenaunay Syndrome 15症例の検討2023
- Author(s)
  玉懸美菜実　長尾宗朝　鈴木綾乃　今井啓道　青木洋子
- Organizer
  第19回日本血管腫血管奇形学会
- Data Source
  KAKENHI-PROJECT-22K09849
[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] HRAS遺伝子に新規ミスセンスバリアント(p.Gly13Ala)を同定した軽症Costello症候群2022
- Author(s)
  伊達木澄人、川村遥、本川未都里、森内浩幸、後藤悠輔、青木洋子
- Organizer
  日本人類遺伝学会第67回大会
- 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、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] Genotype-based management for Noonan syndrome2022
- Author(s)
  Yoko Aoki
- Organizer
  International Meeting of Pediatric Endocrinology
- Invited / Int'l Joint Research
- 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] Noncanonical GTPases: RRAS2, RRAS, MRAS, RIT1.2021
- Author(s)
  Yoko Aoki
- Organizer
  7th International RASopathies Symposium:Pathways to Understanding -Expanding Knowledge, Enhancing Research and Therapeutic Discovery 2
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K19436
[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] Noncanonical GTPases: RRAS2, RRAS, MRAS, RIT1.2021
- Author(s)
  Yoko Aoki
- Organizer
  7th International RASopathies Symposium:Pathways to Understanding-Expanding Knowledge,Enhancing Research and Therapeutic Discovery 2
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03636
[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] LZTR1に複合ヘテロ接合体変異を認めたＮoonan症候群の一例2020
- Author(s)
  富永牧子、井上真理、藤井隆成、富田英、梅木郁美、青木洋子、池田裕一
- Organizer
  日本人類遺伝学会第65回大会
- 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] 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 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] RASopathiesをめぐる最新の話題2019
- Author(s)
  青木洋子
- Organizer
  第37回日本染色体遺伝子学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-17H04223
[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] RASopathies～新しい疾患概念とその病態解明～2018
- Author(s)
  青木洋子
- Organizer
  第42回日本小児皮膚科学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-17H04223
[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 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)
  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] RASopathies：広がりゆく疾患概念とモデルマウス研究2018
- Author(s)
  青木洋子
- Organizer
  第６３回日本人類遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K19504
[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 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)
  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] 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] 遺伝性疾患の病態解明から新しい生命現象を明らかにする2017
- Author(s)
  青木洋子
- Organizer
  第59回日本小児神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] 単一遺伝子疾患におけるゲノム医療の発展：新しい疾患概念形成と治療法開発へ2017
- Author(s)
  青木洋子
- Organizer
  第60回日本腎臓学会学術総会
- Invited
- Data Source
  KAKENHI-PROJECT-17H04223
[Presentation] 遺伝性疾患の病態解明から新しい生命現象を明らかにする2017
- Author(s)
  青木洋子
- Organizer
  第59回日本小児神経学会学術集会
- Invited
- 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] RASopathies: 広がりゆく疾患概念2016
- Author(s)
  青木洋子
- Organizer
  第115回日本皮膚科学会総会
- Place of Presentation
  京都　（国立京都国際会館）
- Invited
- 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] RASopathies: genetic syndromes associated with the Ras/MAPK pathway2016
- Author(s)
  Yoko Aoki
- Organizer
  日本研究皮膚科学会　第41回年次学術大会・総会
- Place of Presentation
  仙台　（仙台国際センター）
- Invited
- 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] RASopathies: 広がりゆく疾患概念2016
- Author(s)
  青木洋子
- Organizer
  第115回日本皮膚科学会総会
- Place of Presentation
  京都 (国立京都国際会館）
- Invited
- Data Source
  KAKENHI-PROJECT-16K15522
[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: genetic syndromes associated with the Ras/MAPK pathway2016
- Author(s)
  Yoko Aoki
- Organizer
  日本研究皮膚科学会　第41回年次学術大会・総会
- Place of Presentation
  仙台 (仙台国際センタ-)
- Invited
- 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] 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] 遺伝病と血液疾患2015
- Author(s)
  青木洋子
- Organizer
  第77回日本血液学会学術集会
- Place of Presentation
  金沢（ホテル金沢）
- Year and Date
  2015-10-16
- Invited
- 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] 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] RASopathiesの最近の進歩2015
- Author(s)
  青木洋子
- Organizer
  第7回日本レックリングハウゼン病学会学術大会
- Place of Presentation
  東京（慶應義塾大学）
- Year and Date
  2015-11-29
- Invited
- 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] 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] 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] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation2011
- Author(s)
  Aoki Y, et al
- Organizer
  1st international symposium on carcinogenic spiral & 9th international conference on protein phosphatase
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19679005
[Presentation] 腫瘍を合併する先天奇形症候群の分子メカニズム2009
- Author(s)
  青木洋子、松原洋一
- Organizer
  第71回日本血液学会学術集会
- Place of Presentation
  京都
- Data Source
  KAKENHI-PROJECT-19679005
[Presentation] Molecular analysis and long-term follow-up study in Noonan syndrome and related disorders.2009
- Author(s)
  小林朋子, 青木洋子, 他
- Organizer
  Genetic Syndromes of the RAS/MAPK Pathway : From Bedside to Bench and Back
- Place of Presentation
  アメリカ、バークレイ
- Data Source
  KAKENHI-PROJECT-19679005
[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, 他
- Organizer
  日本人類遺伝学会第54回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19679005
[Presentation] HRAS2008
- Author(s)
  青木洋子
- Organizer
  ヨーロッパ人類遺伝学会Satellite Workshop「Rare disorders of MAPK pathway」
- Place of Presentation
  バルセロナ、スペイン
- Year and Date
  2008-05-30
- Data Source
  KAKENHI-PROJECT-20390290
[Presentation] 「HRAS」08ヨーロッパ人類遺伝学会2008
- Author(s)
  Aoki Y
- Organizer
  Satellite Workshop「Rare disorders of MAPK pathway」
- Place of Presentation
  シンポジスト (スペイン、バルセロナ)
- Data Source
  KAKENHI-PROJECT-19679005
[Presentation] HRAS2008
- Author(s)
  青木洋子
- Organizer
  ヨーロッパ人類遺伝学会Satenite Workshop「Rare disorders of MAPK pathway」
- Place of Presentation
  バルセロナ、スペイン
- Year and Date
  2008-05-30
- Data Source
  KAKENHI-PROJECT-20018001
[Presentation] Noonan症候群類縁疾患(The RAS/MAPK syndromes)の包括的遺伝子解析2008
- Author(s)
  青木洋子, ら
- Organizer
  日本遺伝子診療学会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-20018001
[Presentation] 先天異常症と随伴腫瘍の病態解析2008
- Author(s)
  青木洋子
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19659083
[Presentation] HRAS2008
- Author(s)
  青木洋子
- Organizer
  ヨーロッパ人類遺伝学会Satellite Workshop「Rare disorders of MAPK pathway」
- Place of Presentation
  バルセロナ、スペイン
- Year and Date
  2008-05-30
- Data Source
  KAKENHI-PROJECT-19659083
[Presentation] Noonan症候群類縁疾患(The RAS/MAPK syndromes)の包括的遺伝子解析2008
- Author(s)
  青木洋子, ら
- Organizer
  日本遺伝子診療学会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-20390290
[Presentation] Noonan症候群類縁疾患(The RAS/MAPK syndromes)の包括的遺伝子解析2008
- Author(s)
  青木洋子, ら
- Organizer
  日本遺伝子診療学会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-19659083
[Presentation] 先天異常症と随伴腫瘍の病態解析2008
- Author(s)
  青木洋子
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20390290
[Presentation] 先天異常症と随伴腫瘍の病態解析2008
- Author(s)
  青木洋子
- Organizer
  第53回日本人類遺伝学会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20018001
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  日本人類遺伝学会第52回大会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Data Source
  KAKENHI-PROJECT-19659083
[Presentation] Comprehensive genetic testing system for Noonan-related syndromes2007
- Author(s)
  Aoki Y
- Organizer
  52th Annual meeting of the Japan Society of Human Genetics
- Place of Presentation
  Tokyo
- Year and Date
  2007-09-13
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Comprehensive genetic diagnosis of Noonan syndrome, Costello syndrome and CFC syndrome2007
- Author(s)
  Aoki Y
- Organizer
  110th Annual meeting of the Japan Pediatric Society
- Place of Presentation
  Kyoto
- Year and Date
  2007-04-20
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Noonan症候群、Costello症候群、cardio-facio-cutaneous症候群の包括的遺伝子診断2007
- Author(s)
  青木洋子
- Organizer
  第110回日本小児科学会学術大会
- Place of Presentation
  京都
- Year and Date
  2007-04-20
- Data Source
  KAKENHI-PROJECT-18018001
[Presentation] Novel Roles of the RAS pathway in human development: Germline mutations in RAS cause congenital anomaly syndromes2007
- Author(s)
  青木洋子
- Organizer
  日本癌学会
- Place of Presentation
  名古屋
- Year and Date
  2007-10-05
- Data Source
  KAKENHI-PROJECT-19679005
[Presentation] Comprehensive genetic testing system for Noonan-related syndromes2007
- Author(s)
  Aoki Y
- Organizer
  14th Annual meeting of the
- Place of Presentation
  Matsuyama
- Year and Date
  2007-07-27
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  日本人類遺伝学会第52回大会
- Place of Presentation
  東京
- Year and Date
  2007-09-20
- Data Source
  KAKENHI-PROJECT-19679005
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  第14回日本遺伝子診療学会大会
- Place of Presentation
  愛媛
- Year and Date
  2007-07-27
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Noonan症候群、Costello症候群、cardio-facio-cutaneous症候群の包括的遺伝子診断2007
- Author(s)
  青木洋子
- Organizer
  第110回日本小児科学会学術大会
- Place of Presentation
  京都
- Year and Date
  2007-04-20
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  第14回日本遺伝子診療学会大会
- Place of Presentation
  松山
- Year and Date
  2007-07-27
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] H=RAS gene: structure and function2007
- Author(s)
  Aoki Y
- Organizer
  International Costello syndrome symposium
- Place of Presentation
  Portland
- Year and Date
  2007-07-21
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Noonan症候群、Costello症候群、cardio-facio-cutaneous症候群の包括的遺伝子診断2007
- Author(s)
  青木洋子
- Organizer
  第110回日本小児科学会学術大会
- Place of Presentation
  京都
- Year and Date
  2007-04-20
- Data Source
  KAKENHI-PROJECT-19659083
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  第14回日本遺伝子診療学会大会
- Place of Presentation
  愛媛
- Year and Date
  2007-07-27
- Data Source
  KAKENHI-PROJECT-18018001
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  日本人類遺伝学会弟52回大会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  日本人類遺伝学会第52回大会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Data Source
  KAKENHI-PROJECT-18018001
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  第14回日本遺伝子診療学会大会
- Place of Presentation
  愛媛
- Year and Date
  2007-07-27
- Data Source
  KAKENHI-PROJECT-19659083
[Presentation] H-RAS Gene: Structure & Function2007
- Author(s)
  青木洋子
- Organizer
  国際Costello症候群シンポジウム
- Place of Presentation
  ポートランド
- Year and Date
  2007-07-21
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Noonan症候群類縁疾患の包括的遺伝子診断と診断システムの考案2007
- Author(s)
  青木洋子
- Organizer
  日本人類遺伝学会第52回大会
- Place of Presentation
  東京
- Year and Date
  2007-09-13
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Comprehensive mutation analysis in Costello syndrome, CFC syndrome and Noonan syndrome: clinical genetic overlap among three disorders2006
- Author(s)
  青木洋子
- Organizer
  米国人類遺伝学会第56回大会
- Place of Presentation
  ニューオーリンズ
- Year and Date
  2006-10-10
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] structure and function2006
- Author(s)
  Aoki Y, CFC grnes
- Organizer
  International CFC-Noonan symposium
- Place of Presentation
  Potomac
- Year and Date
  2006-11-18
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] Comprehensive mutation analysis in Costello syndrome, CFC syndrome and Noonan syndrome: clinical genetic overlap among three disorders2006
- Author(s)
  Aoki Y
- Organizer
  56th Annual meeting of the American Society of Human Genetics
- Place of Presentation
  New Orleans
- Year and Date
  2006-10-10
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[Presentation] CFC genes: structure and function2006
- Author(s)
  青木洋子
- Organizer
  国際CFC-Noonanシンポジウム
- Place of Presentation
  ポトマック
- Year and Date
  2006-11-18
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-18390296
[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疾患の遺伝子解析研究の現状
- Author(s)
  青木洋子
- Organizer
  日本人類遺伝学会第59回大会
- Place of Presentation
  東京、タワーホール船橋
- Year and Date
  2014-11-19 – 2014-11-22
- Invited
- 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. MATSUBARA Yoichi (00209602)

# of Collaborated Projects: 17 results

# of Collaborated Products: 73 results
2. NIIHORI Tetsuya (40436134)

# of Collaborated Projects: 15 results

# of Collaborated Products: 75 results
3. INOUE Shinichi (70622091)

# of Collaborated Projects: 6 results

# of Collaborated Products: 33 results
4. Abe Taiki (40810594)

# of Collaborated Projects: 6 results

# of Collaborated Products: 19 results
5. KURE Shigeo (10205221)

# of Collaborated Projects: 5 results

# of Collaborated Products: 23 results
6. Umeki Ikumi

# of Collaborated Projects: 3 results

# of Collaborated Products: 0 results
7. SUZUKI Yoichi (80216457)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
8. OBA Daiju

# of Collaborated Projects: 2 results

# of Collaborated Products: 4 results
9. NISHIYAMA Ayumi

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
10. TAKAHARA Shingo

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
11. 吉成浩一 (60343399)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. 長尾宗朝 (00364349)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
13. 野澤明史 (20772106)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
14. 尾崎峰 (60372926)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
15. YAOITA Masako

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
16. SUZUKI Naoki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. HAYABUCHI Yasunobu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. OKADA Satoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. Nagai Koki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. OZEKI Michio

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. MURAKAMI Yoshiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. 大西秀典

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. 高潮征爾

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 割田仁

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 登勉

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 中谷中

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 植田紀美子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
31. 杉田克生

# 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

Aoki Yoko 青木 洋子

AOKI Yoko 青木 洋子

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Elucidation of novel mechanisms of RASopathiesPrincipal Investigator

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Lymphatic abnormalities in RAS related disordersPrincipal Investigator

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New mechanisms and pathogenesis of Noonan syndrome adn related disordersPrincipal Investigator

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

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Functional analysis and modeling in RASopathiesPrincipal Investigator

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Metablic alterarion and growth control in congenital anomaly syndromePrincipal Investigator

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Molecular analysis and pathogenesis of the RAS/MAPK syndromesPrincipal Investigator

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Aoki Yoko 青木洋子

AOKI Yoko 青木洋子