Aoki Yoko 青木洋子

… Alternative Names

Researcher Number	80332500
Other IDs
Affiliation (Current)	2021: 東北大学, 医学系研究科, 教授
Affiliation (based on the past Project Information) *help	2021: 東北大学, 医学(系)研究科(研究院), 教授 2016 – 2021: 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 … More
Review Section/Research Field	Principal Investigator Pediatrics / Medium-sized Section 52:General internal medicine and related fields / Neurochemistry/Neuropharmacology / Human genetics / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Pediatrics / Biological Sciences / Human genetics / Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics / Basic Section 47060:Clinical pharmacy-related
Keywords	Principal Investigator シグナル伝達 / RAS / がん原遺伝子 / チロシンホスファターゼ / ヌーナン症候群 / 遺伝子診断 / 遺伝学 / PTPN11 / Ras / 癌遺伝子 … More Except Principal Investigator シグナル伝達 / 遺伝子変異 / ヌーナン症候群 / CFC症候群 / 遺伝子診断 / RAS / 先天奇形症候群 / コステロ症候群 / 遺伝子 / 癌 / 脳神経疾患 / 癌遺伝子 / MAPK / 遺伝子解析 / DNA diagnosis / 血小板減少症 / 橈尺骨癒合 / RASopathies / 遺伝学 / ゲノム情報 / データベース / プロテーム / 発癌 / 遺伝 / 先天異常学 / 細胞内シグナル伝達 / 疾患モデルマウス / 遣伝子変異 / 遺伝性疾患 / シークエンス / 次世代シークエンサー / NGS / 単一遺伝子病 / フェニルケトン尿症 / 糖原病 / 高グリシン血症 / 薬物代謝酵素多型 / single gene disorders / phenylkeonuria / glycogen storage disease / hyperglycinemia / pharmaconenetics / 遺伝子診断法 / SNP / ベッドサイド遺伝子診断 / 免疫クロマトグラフィー / 試験紙 / 遺伝薬理学 / 遺伝子多型 / 薬物代謝酵素 / Mutation / Single nucleotide polymorphism / Point-of-care genetic diagnosis / Immunochromalography / Test strip / Pharmacogenetics / がん遺伝子 / Congenital anomaly syndrome / Noonan syndrome / Costello syndrome / CFC syndrome / signal transduction / genetic mutation / oncogene / MECOM / 橈尺骨癒合症 / HOXA11 / EVI1 / BRAF / RAS/MAPKシグナル伝達経路 / ヒストン修飾 / RIT1 / 心臓線維化 / 心疾患 / がん遺伝子産物 / 発がん抑制 / 発生異常 / MAPKシグナル伝達経路 / ユビキチン修飾 / がん / ゼブラフィッシュ / マウス Less

がん原遺伝子RASシグナル伝達疾患におけるリンパ管異形成のメカニズム解明Principal Investigator
- Principal Investigator
  
  青木洋子
- 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
がん遺伝子産物RASに対する分解誘導戦略の構築
- Principal Investigator
  
  阿部太紀
- 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
New mechanisms and pathogenesis of Noonan syndrome adn related disordersPrincipal Investigator
- Principal Investigator
  
  青木洋子
- 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
無巨核球性血小板減少症を伴うあるいは伴わない橈尺骨癒合症の病態解析
- Principal Investigator
  
  新堀哲也
- 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
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)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Tohoku University
小児先天異常症における代謝システム制御機構とがん細胞代謝とのクロストークPrincipal Investigator
- Principal Investigator
  
  青木洋子
- 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] 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 Pages: 74-83
- DOI
  10.1093/hmg/ddy333
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07811
[Journal Article] Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.2019
- 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
  
  Hum Genet.
  
  Volume: 138 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] 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 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
[Journal Article] New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis.2019
- 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 Pages: 1202-1207
- DOI
  10.1002/ccr3.1568
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H04223
[Journal Article] Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.2018
- 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 Pages: 4715-4727
- DOI
  10.1093/hmg/ddx354
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10045, KAKENHI-PROJECT-26253016, KAKENHI-PROJECT-16K18389, KAKENHI-PROJECT-17H04223
[Journal Article] Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype2017
- Author(s)
  Ueda K, Yaoita M, Niihori T, Aoki Y, Okamoto N.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 173 Pages: 2346-2352
- DOI
  10.1002/ajmg.a.38337
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K01792, KAKENHI-PROJECT-15KK0293, KAKENHI-PROJECT-17H04223
[Journal Article] Patient with a novel purine-rich element binding protein A mutation.2017
- Author(s)
  Okamoto N, Nakao H, Niihori T, Aoki Y.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 印刷中 Issue: 6 Pages: 201-204
- DOI
  10.1111/cga.12214
- ISSN
  0914-3505
- 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 Pages: 33-39
- DOI
  10.1038/jhg.2015.114
- NAID
  40020859216
- Peer Reviewed / Acknowledgement Compliant
- 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 Pages: 209-22
- DOI
  10.1007/s00439-015-1627-5
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26293241
[Journal Article] Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities.2016
- 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 Pages: 189-194
- DOI
  10.1002/ajmg.a.37376
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26670490
[Journal Article] Genomic analysis identifies candidate pathogenic variants in 　9　of 18 patients with unexplained West syndrome2015
- 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 Pages: 649-58
- DOI
  10.1007/s00439-015-1553-6
- Peer Reviewed / Acknowledgement Compliant / 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 phenotype2015
- 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
  
  Human molecular genetics
  
  Volume: 24 Pages: 7349-60
- DOI
  10.1093/hmg/ddv435
- Peer Reviewed / Acknowledgement Compliant
- 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] Mutation in MECOM, encoding oncoprotein EVI1, cause amegakaryocytic thrombocytopenia with radioulnar synostosis.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 Pages: 848-54
- DOI
  10.1016/j.ajhg.2015.10.010
- Peer Reviewed / Acknowledgement Compliant / 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 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 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: -
- DOI
  10.1007/s10620-014-3476-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520
[Journal Article] Mutations in PIGL in a Patient with Mabry Syndrome2015
- 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 Pages: 777-785
- DOI
  10.1002/ajmg.a.36987
- Peer Reviewed / Acknowledgement Compliant / 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 Cardiol.
  
  Volume: 173
- 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 Pages: 4315-4327
- DOI
  10.1093/hmg/ddu148
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26293241
[Journal Article] New BRAF knock-in 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
  
  Human Molecular Genetics
  
  Volume: 23 Pages: 6533-6566
- 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 siblings2014
- 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) 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] ITIH4 and Gpx3 are potential biomarkers for amyotrophic lateral sclerosis.2013
- 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
  
  Journal of Human Genetics
  
  Volume: 58(5) Pages: 1782-1797
- 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 Gene2013
- Author(s)
  Asano M, et al.
- Journal Title
  
  Acta Derm Venereol
  
  Volume: 93 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 defects2012
- Author(s)
  Narisawa A
- Journal Title
  
  Hum Mol Genet.
  
  Volume: 21 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) Pages: 1009-1015
- 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) 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) 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) Pages: 166-169
- DOI
  10.1016/j.braindev.2010.03.008
- NAID
  10029560675
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659513
[Journal Article] Afamilial case of LEOPARD 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) Pages: 576-579
- 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] Role of polyunsaturated fatty acids and fatty acid binding protein in the pathogenesis of schizophrenia.2011
- Author(s)
  Kamada F, et al
- Journal Title
  
  J Human Genetics
  
  Volume: 56(1) Pages: 168-175
- DOI
  10.1038/jhg.2010.132
- NAID
  10030657293
- 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
  
  J Hum Genet.
  
  Volume: 56(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] 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] 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] 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: 79 results
2. NIIHORI Tetsuya (40436134)

# of Collaborated Projects: 12 results

# of Collaborated Products: 50 results
3. INOUE Shinichi (70622091)

# of Collaborated Projects: 6 results

# of Collaborated Products: 31 results
4. KURE Shigeo (10205221)

# of Collaborated Projects: 5 results

# of Collaborated Products: 26 results
5. 阿部太紀 (40810594)

# of Collaborated Projects: 3 results

# of Collaborated Products: 2 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: 8 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. YAOITA Masako

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
13. FUKUYO Naomi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. OKADA Satoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. YOSHIKAWA Takeo

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. NARUTO Takuya

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. ENOMOTO Yumi

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. MURAKAMI Yoshiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
20. HAKODA Akiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. 富永悌二

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
22. 割田仁

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
23. 長嶋剛史

# of Collaborated Projects: 0 results

# of Collaborated Products: 4 results
24. 青木正志

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. 加藤昌昭

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. 舟山亮

# of Collaborated Projects: 0 results

# of Collaborated Products: 6 results
27. 小林朋子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 中山啓子

# of Collaborated Projects: 0 results

# of Collaborated Products: 5 results
29. 土屋滋

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 松本直通

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
31. 城田松之

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
32. 谷内一彦

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
33. 大西浩史

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
34. 富田幸子

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
35. 笹原洋二

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
36. 登勉

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
37. 中谷中

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
39. 黒澤健司

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
40. 渡邉裕介

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
41. 大和田祐二

# of Collaborated Projects: 0 results

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

# of Collaborated Projects: 0 results

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

# 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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がん原遺伝子RASシグナル伝達疾患におけるリンパ管異形成のメカニズム解明Principal Investigator

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New mechanisms and pathogenesis of Noonan syndrome adn related disordersPrincipal Investigator

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小児先天異常症における代謝システム制御機構とがん細胞代謝とのクロストークPrincipal 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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Epigenomic regulation in congenital anomaly syndromesPrincipal Investigator

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Aoki Yoko 青木洋子

AOKI Yoko 青木洋子