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Matsubara Yoichi  松原 洋一

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MATSUBARA Yoich  松原 洋一

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Researcher Number 00209602
Other IDs
Affiliation (Current) 2025: 国立研究開発法人国立成育医療研究センター, その他, シニアフェロー
Affiliation (based on the past Project Information) *help 2016 – 2020: 国立研究開発法人国立成育医療研究センター, 所長室, 研究所長
2015 – 2016: 国立研究開発法人国立成育医療研究センター, 研究所, 研究所長
2015: 国立研究開発法人国立成育医療研究センター, 研究所, 所長
2014: 国立成育医療研究センター, 所長
2013 – 2014: 独立行政法人国立成育医療研究センター, その他部局等, その他 … More
2013 – 2014: 独立行政法人国立成育医療研究センター, 研究所, 研究所長
2011 – 2012: 東北大学, 医学(系)研究科(研究院), 教授
2007 – 2012: Tohoku University, Tohoku University School of Medicine, Professor
2008: 東北大学, 医学系研究科, 教授
2007: 東北大学, 医学研究科, 教授
2007: Tohoku University, 大学院・医学研究科, 教授
2006: Tohoku University, Graduate School of Medicine, Professor, 大学院医学系研究科, 教授
2005: 東北大学, 大学院医学研究科, 教授
2004 – 2005: 東北大学, 大学院・医学研究科, 教授
2000 – 2005: TOHOKU UNIV, MEDICAL GENETICS, PROFESSOR, 大学院・医学系研究科, 教授
1999: MEDICAL GENETICS, TOHOKU UNIV., ASSOCIATE PROFESSOR, 大学院・医学系研究科, 助教授
1991 – 1998: Tohoku University, School of Medicine, Associate Proffessor, 医学部, 助教授
1997: 東北大学, 大学院医学系研究科, 助教授
1991: 東北大学, 医学部病態代謝学, 助教授
1990 – 1991: 東北大学, 医学部・病態代謝学教室, 助教授
1989: 東北大学, 医学部, 助教授 Less
Review Section/Research Field
Principal Investigator
Pediatrics / Pediatrics / Biological Sciences / Human genetics / Human genetics
Except Principal Investigator
Pediatrics / Pediatrics / Medium-sized Section 52:General internal medicine and related fields / Human genetics / Otorhinolaryngology … More / Otorhinolaryngology / Hygiene / Neurology / Respiratory organ internal medicine / Laboratory medicine Less
Keywords
Principal Investigator
遺伝子変異 / 遺伝子診断 / シグナル伝達 / フェニルケトン尿症 / RAS / PCR / 癌遺伝子 / 先天奇形症候群 / 遺伝子多型 / 遺伝子治療 … More / 糖原病 / 遺伝性疾患 / DNA diagnosis / 単一遺伝子病 / アデノウイルスベクター / モデル動物 / glycogen storage disease / phenylketonuria / genetic mutation / MAPK / 細胞内シグナル伝達 / データベース / CFC症候群 / コステロ症候群 / ヌーナン症候群 / 脳神経疾患 / 癌 / 遺伝子 / SNP / 免疫クロマトグラフィー / 伝達不均衡試験 / 相関研究 / 口蓋裂 / 唇裂 / 先天性代謝異常症 / oncogene / signal transduction / CFC syndrome / Costello syndrome / Noonan syndrome / Congenital anomaly syndrome / がん遺伝子 / Pharmacogenetics / Test strip / Immunochromalography / Point-of-care genetic diagnosis / Single nucleotide polymorphism / Mutation / 薬物代謝酵素 / 遺伝薬理学 / 試験紙 / ベッドサイド遺伝子診断 / 遺伝子診断法 / pharmaconenetics / hyperglycinemia / phenylkeonuria / single gene disorders / 薬物代謝酵素多型 / 高グリシン血症 / GLYCOGEN STORAGE DISEASE / PHENYLKETONURIA / SINGLE-GENE DISORDER / RARE GENETIC DISEASES / DNADIAGNOSIS / 先天代謝異常症 / 稀少遺伝病 / Fetal gene therapy / Tetrahydrobiopterin / TaqMan-PCR / Adenovirus / Gene therapy / Phenylketonuria / キメラオリゴヌクレオチド / 胎児治療 / adenoviral vector / animal model / gene therapy / 免疫抑制剤 / mass-screening / Gene diagnosis / マススクリーニング / biopterin / dihydropteridine reductase / ビオプテリン / ジヒドロプテリジン還元酵素 / シークエンス / 遺伝子解析 / Ras / i遺伝子 / 遣伝子変異 / 疾患モデルマウス / 先天異常学 / 遺伝 / 発癌 / プロテーム / ゲノム情報 / 遺伝学 / オーダーメイド医療 / 遺伝子検査 / ベッドサイド / 小児科診療 / テーラーメード医療 / 薬理遺伝学 / ファーマコゲノミクス / ダイオキシン代謝 / GAD67 / GABA代謝 / ELISA / GABA / ダイオキシン / 組み換えアデノウイルス / アデノウィルスベクター / マススクリ-ニング / DNA診断 / 乳児突然死症候群 / 先天代謝異常 / 脂肪酸代謝 / 中鎖アシルCoA脱水素酵素 … More
Except Principal Investigator
遺伝子診断 / RAS / ヌーナン症候群 / がん原遺伝子 / ホロカルボキシラーゼ合成酵素欠損症 / ホロカルボキシラーゼ合成酵素 / 遺伝子変異 / フェニルケトン尿症 / 遺伝子解析 / 遺伝子 / 遺伝学 / シグナル伝達 / Costello症候群 / 代謝 / EUN / コルチ器 / 動物モデル / 聴性脳幹反応 / 先天性難聴 / SOD / ALS / PHENYLKETONURIA / 遺伝子治療 / BIOTIN / PKU / GSD / 糖原病1a型 / HCScDNA / ビオチン / マルチプルカルボキシラーゼ欠損症 / メチルマロン酸血症 / 非ケトーシス型高グリシン血症 / holocarboxylase synthetase / multiple carboxylase deficiency / ビオチン依存症 / コステロ症候群 / 先天異常症 / モデルマウス / 遺伝性疾患 / 先天奇形症候群 / 遺伝学的検査 / ホロカルボキシラ-ゼ合成酵素 / RAS/MAPKシグナル伝達経路 / ゼブラフィッシュ / Noonan症候群 / 心肥大 / 体重増加不良 / EVI1 / HOXA11 / 橈尺骨癒合 / 橈尺骨癒合症 / MECOM / 血小板減少症 / Tyrosine phosphatase / Ras / proto-oncogene / Multiple congenital anomaly / RAF / チロシンホスファターゼ / がん遺伝子 / leukotrienes / complements / interleukin / haplotype / multivariate analysis / single nucleotide polymorphism / bronchial asthma / インターロイキン4受容体 / アドレナリン受容体 / ロイコトリエン受容体 / 補体 / インターロイキン / ハプロタイプ / 多変量解析 / 遺伝子多型 / 喘息 / organ of Corti / supporting cell / dominant-negative effect / hereditary deafness / Mouse model / GJB2 / Connexin 26 / 聴性納幹反応 / Gjb2難聴遺伝子 / 内耳 / ミトコンドリア遺伝子 / GJB2遺伝子 / Organ of Corti / Animal model / Auditory brainstem response / Congenital deafness / Random mutagenesis / ラセン神経節 / 血管条 / 有毛細胞 / 蝸牛 / ランダムミュータジェネーシス / 難聴遺伝子 / ランダムミュータジェネーシス法 / Genetic information / Genetic epidemiology / Single Nucleotide Polymorphisms / Gene / Life style-related diseases / Occupational Health / カウンセリング / 介入研究 / 情報開示 / 個人情報 / 遺伝情報 / 遺伝疫学 / 一塩基置換 / 生活習慣病 / 産業衛生 / MEDIUM CHAIN ACYL-COA DEHYDROGENASE / GLYCOGEN STORAGE DISEASE TYPE 1A / ALLELE SPECIFIC PRIMER / SYBR-GREEN-ASA / TAQ MAN-ASA / KNOWN MUTATION / 自動既知変異検出システム / 軟骨無形成症 / Tay-Sachs病 / 糖原病1型 / Extention プライマー / Multiplex primer extension法 / 中鎖アシルCoA脱水素酸素欠損症 / フェニルケトン症 / アレル特異的プライマー / AYBR Green-ASA法 / Taq Man ASA法 / 既知遺伝子変異 / MULTIPLE CARBOXYLASE DEFICIENCY / KINETICO / MUTATION / HOLOCARBOXYLASE SYNTHETASE DEFICIENCY / ピオチン反応性 / ウエスタンブロット / ペプチド抗体 / 開始コドン / Vmax値 / Km値 / 発現蛋白 / ビオチン反応性 / gene therapy / transgenic mice / トランスジェニックマウス / COAT COLOR / SERUM PHENYLALANINE / ADNOVIRUS VECTOR / GENE THERAPY / HEPATIC ENZYME DEFICIENCY / 体毛色 / 血中フェニルアラニン値 / アデノウイルスベクター / 肝酵素欠損症 / MULTIPLE CARBOXYLASE SYNTHETASE / cDNA CLONING / MAPPING / HOLOCARBOXYLASE SYNTHETASE / 遺伝子クローニング / 遺伝子座位 / Metylmalonic Acidemia / Holocarboxylase Synthetase Deficiency / Multiplex ASPCR / Allele Specific PCR / Mutation / Cloning / アレル特異的PCR / 多型診断 / short tandem repeat / 遺伝病 / 保因者診断 / STR / 変異検出法 / アレル特異的PCR法 / genetic diagnosis / mutation / holocarboxylase synthetase deficiency / HAS / biotine / ノーザンブロット / クローニング / cDNA / 新生児マルチプルカルボキシラーゼ欠損症 / HCScDNAの発現 / PCR-SSCP / HCS / INHERITED DISEASE / GENETIC DIAGNOSIS / GENE ANALYSIS / GENE CLONING / MOLECULAR GENETICS / 中鎖アシルCoA脱水素酵素 / 異所性mRNA / 対立遺伝子特異的増幅法 / 乾燥濾紙血液 / enzyme diagnosis / enzyme purification / biotin dependency / 酵素診断 / 酵素精製 / マルチプルカルボキシラ-ゼ欠損症 / BRAF / RAS/MAPK / RAS/MAPシグナル伝達経路 / エピゲノム / NGS / 次世代シークエンサー / CFC症候群 / 肥大型心筋症 / シークエンス / エクソーム解析 / 家族性癌 / RAF1遺伝子 / 遺伝子解析方法 / ヌーナン症候群関連疾患 / ヌーナン症候群類縁疾患 / RAF1遺伝子 / 遺伝カウンセリング / 先天異常症候群 / PTPN11 / 奇形症候群 / 癌遺伝子 / ガイドライン / OECD / 臨床的有用性 / 臨床的妥当性 / 分析的妥当性 / 精度管理 / 標準化 / 有機酸代謝異常症 / ビオチン酵素 / マルチフルカルボキシラ-ゼ欠損症 Less
  • Research Projects

    (48 results)
  • Research Products

    (159 results)
  • Co-Researchers

    (48 People)
  •  Crosstalk between mechanism of metabolic abnormalies in congenital disorders and cancer cell metabolism

    • Principal Investigator
      Aoki Yoko
    • Project Period (FY)
      2018 – 2020
    • Research Category
      Grant-in-Aid for Challenging Research (Exploratory)
    • Review Section
      Medium-sized Section 52:General internal medicine and related fields
    • Research Institution
      Tohoku University
  •  Functional analysis of mutants of EVI1 identified in individuals with radioulnar synostosis with amegakaryocytic 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 RASopathies

    • Principal Investigator
      Aoki Yoko
    • Project Period (FY)
      2017 – 2019
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Metablic alterarion and growth control in congenital anomaly syndrome

    • Principal Investigator
      Aoki Yoko
    • Project Period (FY)
      2016 – 2017
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Molecular analysis and pathogenesis of the RAS/MAPK syndromes

    • Principal Investigator
      Aoki Yoko
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Establishment of comprehensive gene analysis of Noonan syndrome and related 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 syndromes

    • Principal Investigator
      Aoki Yoko
    • Project Period (FY)
      2014 – 2015
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Understanding the pathogenic mechanism for Noonan syndrome with RAF1 mutation

    • Principal Investigator
      KOBAYASHI Tomoko
    • Project Period (FY)
      2012 – 2015
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Familial pathogenesis of lung cancer with the epidermal growth factor receptor (EGFR) gene mutation

    • Principal Investigator
      KIKUCHI Toshiaki
    • Project Period (FY)
      2012 – 2014
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Respiratory organ internal medicine
    • Research Institution
      Tohoku University
  •  Molecular analysis of congenital anomaly syndromes caused by intracellular signal transduction defectsPrincipal Investigator

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      National Research Institute for Child Health and Development
      Tohoku University
  •  Identification of pathogenic genes for genetic diseases using next-generation sequencing and high-density microarrayPrincipal Investigator

    • 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
  •  シグナル伝達データベースとオミックス解析による先天奇形症候群の病因解明Principal Investigator

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      2009 – 2010
    • 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

    • 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 pathwaysPrincipal Investigator

    • 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
  •  Study on the standardization and quality assurance of genetic testing

    • Principal Investigator
      KOSUGI Shinji
    • Project Period (FY)
      2007 – 2008
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Laboratory medicine
    • Research Institution
      Kyoto 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
      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

    • 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
  •  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

    • Principal Investigator
      松原 洋一
    • 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 pathwaysPrincipal Investigator

    • 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
  •  小児科領域における遺伝子多型に基づいたオーダーメイド医療の構築Principal Investigator

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      2005 – 2006
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Identification of novel disease genes for Noonan-related syndromes

    • 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
  •  唇裂・口蓋裂の発症に関与する遺伝的素因の深索Principal Investigator

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      2004
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Tohoku University
  •  New strategy for development of diseased mouse model of hereditary deafness and fundamental therapy based on molecular mechanisms

    • Principal Investigator
      IKEDA Katsuhisa
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      Juntendo University
  •  Multivariate analysis of asthma susceptibility genes

    • Principal Investigator
      SUZUKI Yoichi
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Human genetics
    • Research Institution
      Chiba University
  •  唇裂・口蓋裂の発症に関与する遺伝的素因の探索Principal Investigator

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      2003
    • Research Category
      Grant-in-Aid for Scientific Research on Priority Areas
    • Review Section
      Biological Sciences
    • Research Institution
      Tohoku University
  •  単一遺伝子病に対する新しい遺伝子診断法の開発と応用Principal Investigator

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      2003 – 2004
    • Research Category
      Grant-in-Aid for Exploratory Research
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  DEVELOPMENT OF A NOVEL POINT-OF-CARE GENETIC TESTING METHODPrincipal Investigator

    • 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
  •  IDENTIFICATION AND CLARIFICATION OF THE UNDERLYING MECHANISM OF NOVEL DEANESS GENE BY MUTAGENESIS PROGRAM

    • Principal Investigator
      IKEDA Katsuhisa
    • Project Period (FY)
      2002 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Otorhinolaryngology
    • Research Institution
      JUNTENDO UNIVERSITY
      Tohoku University
  •  COMPREHENSIVE DNA DIAGNOSTIC SYSTEM FOR SINGILE GENE DISORDERSPrincipal Investigator

    • 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
  •  An occupational health approach to prevent the lifestyle-related diseases based on genetic information.

    • Principal Investigator
      SATOH Hiroshi
    • Project Period (FY)
      2001 – 2003
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Hygiene
    • Research Institution
      Tohoku University
  •  DNA DIAGNOSIS OF RARE GENETIC DISEASES USING JAPANESE MICROARRAYPrincipal Investigator

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      2000 – 2001
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Human genetics
    • Research Institution
      TOHOKU UNIVERSITY
  •  GENE THERAPY IN PHENYLKETONURIAPrincipal Investigator

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      1999 – 2000
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  KINETIC PROPERTIES OF MUTANT HOLOCARBOXYLASE SYNTHETASES

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  AUTOMATIC DETECTION SYSTEM OF GENETIC POLYMORPHISMS

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1998 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Molecular mechanism and gene therapy of familial ALS

    • Principal Investigator
      ABE Koji
    • Project Period (FY)
      1997 – 1999
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Neurology
    • Research Institution
      Okayama University
      Tohoku University
  •  Adenovirus-mediated gene transfer in phenylketonuria model micePrincipal Investigator

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      1997 – 1998
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  フェニルケトン尿症に対する遺伝子治療の基礎的研究Principal Investigator

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      1996
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  GENE THERAPY ON HEPATIC ENZYME DEFICIENCY.

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1996 – 1997
    • Research Category
      Grant-in-Aid for Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  フェニルケトン尿症モデルマウスにおける遺伝子治療の基礎的研究Principal Investigator

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Development of gene diagnosis system for screening of inherited metabolic disordersPrincipal Investigator

    • Principal Investigator
      MATSUBARA Youichi
    • Project Period (FY)
      1995 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Human genetics
    • Research Institution
      Tohoku University
  •  Rapid Detection of Known Mutations and Its Application to Carrie Testing

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1994 – 1996
    • Research Category
      Grant-in-Aid for Scientific Research (A)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  ISOLATION AND CHARACTERIZATION OF HUMAN HOLOCARBOXYLASE SYNTHETASE GENE.

    • Principal Investigator
      SUZUKI Yoichi
    • Project Period (FY)
      1994 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSIT,SCHOOL OF MEDICINE
  •  Molecular basis of neonatal-onset multiple carboxylase deficiency

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1993 – 1995
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  Molecular analysis of dihydropteridine reductase deficiencyPrincipal Investigator

    • Principal Investigator
      MATSUBARA Yoichi
    • Project Period (FY)
      1993 – 1994
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  中鎖アシルCoA脱水素酵素欠損症の分子遺伝学的研究Principal Investigator

    • Principal Investigator
      松原 洋一
    • Project Period (FY)
      1991
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  Molecular and biochemical study on multiple carboxylase deficiency.

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1990 – 1991
    • Research Category
      Grant-in-Aid for General Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University
  •  DIAGNOSTIC METHODS BY DNA ANALYSIS OF DRIED BLOOD SPOTS AND CLASSIFICATION OF INHERITED DISEASE BY MUTANT GENOTYPES.

    • Principal Investigator
      NARISAWA K
    • Project Period (FY)
      1990 – 1992
    • Research Category
      Grant-in-Aid for Developmental Scientific Research (B)
    • Research Field
      Pediatrics
    • Research Institution
      TOHOKU UNIVERSITY
  •  マルチプルカルボキシラ-ッゼ欠損症の分子生物学的研究

    • Principal Investigator
      NARISAWA Kuniaki
    • Project Period (FY)
      1989
    • Research Category
      Grant-in-Aid for General Scientific Research (C)
    • Research Field
      Pediatrics
    • Research Institution
      Tohoku University

All 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 2003 Other

All Journal Article Presentation Book Patent Other

  • [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-17659308
  • [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
  • [Book] シンプル病理学2004

    • Author(s)
      松原洋一 ほか
    • Total Pages
      400
    • Publisher
      南江堂
    • Data Source
      KAKENHI-PROJECT-16012202
  • [Book] シンプル病理学2004

    • Author(s)
      松原洋一 ほか
    • Total Pages
      400
    • Publisher
      南江堂
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390111
  • [Book] シンプル病理学2004

    • Author(s)
      松原洋一 ほか
    • Total Pages
      400
    • Publisher
      南江堂
    • Data Source
      KAKENHI-PROJECT-15659241
  • [Book] Simple Pathology2004

    • Author(s)
      Matsubara Y, et al.
    • Total Pages
      400
    • Publisher
      Nankodo
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390111
  • [Book] シンプル病理学2004

    • Author(s)
      松原洋一ほか
    • Total Pages
      400
    • Publisher
      南江堂
    • Data Source
      KAKENHI-PROJECT-15390111
  • [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] Recent advances in RASopathies.2016

    • Author(s)
      Aoki Y, Niihori T, Inoue S, Matsubara Y.
    • Journal Title

      J Hum Genet.

      Volume: 61 Issue: 1 Pages: 33-39

    • DOI

      10.1038/jhg.2015.114

    • NAID

      40020859216

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26293241
  • [Journal Article] Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.2016

    • Author(s)
      Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.
    • Journal Title

      Hum Genet.

      Volume: 135 Issue: 2 Pages: 209-222

    • DOI

      10.1007/s00439-015-1627-5

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26293241
  • [Journal Article] Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.2015

    • Author(s)
      Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y.
    • Journal Title

      Hum Mol Genet.

      Volume: 24 Issue: 25 Pages: 7349-7360

    • DOI

      10.1093/hmg/ddv435

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26670110, KAKENHI-PROJECT-15K19598, KAKENHI-PUBLICLY-26111703, KAKENHI-PROJECT-25462147, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26293241
  • [Journal Article] 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] 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] Mutations in PIGL in a patient with Mabry syndrome.2015

    • Author(s)
      Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.
    • Journal Title

      Am J Med Genet A.

      Volume: in press Issue: 4 Pages: 777-785

    • DOI

      10.1002/ajmg.a.36987

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PUBLICLY-25129705, KAKENHI-PROJECT-25461535, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26830064, KAKENHI-PROJECT-15K15024, KAKENHI-PROJECT-26293059
  • [Journal Article] Shimosegawa T . Sequential analysis of amino acid substitutions with hepatitis B virus in association with nucleoside/nucleotide analog treatment detected by deep sequencing2014

    • Author(s)
      Ninomiya M, Kondo Y, Niihori T, Nagashima T, Kogure T, Kakazu E, Kimura O, Aoki Y, Matsubara Y
    • Journal Title

      Hepatol Res

      Volume: 44(6) Issue: 6 Pages: 678-684

    • DOI

      10.1111/hepr.12168

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148, KAKENHI-PROJECT-25460970
  • [Journal Article] TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-like Craniofacial Features and Hypocalcemia.2014

    • Author(s)
      Ogata T*, Niihori T, Tanaka N, Kawai M, Nagashima T, Funayama R, Nakayama K, Nakashim S, Kato F, Fukami M, Aoki Y, Matsubara Y
    • Journal Title

      PLoS One

      Volume: 9 Issue: 3 Pages: e91598-e91598

    • DOI

      10.1371/journal.pone.0091598

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148, KAKENHI-PLANNED-24119005, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26830064
  • [Journal Article] New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.2014

    • Author(s)
      Inoue S. I. et al.
    • Journal Title

      Hum. Mol. Genet.

      Volume: 23 Issue: 24 Pages: 6553-6566

    • DOI

      10.1093/hmg/ddu376

    • Peer Reviewed / Acknowledgement Compliant
    • Data Source
      KAKENHI-PLANNED-22127006, KAKENHI-PROJECT-24370085, KAKENHI-PROJECT-26293241, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26650003, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26860127
  • [Journal Article] GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.2014

    • Author(s)
      Izumi R, Niihori T, Suzuki N, Sasahara Y, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M.
    • Journal Title

      Neuromuscul. Disord.

      Volume: 24(12) Issue: 12 Pages: 1068-1072

    • DOI

      10.1016/j.nmd.2014.07.008

    • Peer Reviewed / Acknowledgement Compliant / Open Access
    • Data Source
      KAKENHI-PROJECT-23591528, KAKENHI-PROJECT-26293059, KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461562, KAKENHI-PROJECT-26670085, KAKENHI-PROJECT-26830064
  • [Journal Article] Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure2013

    • Author(s)
      Izumi R, Niihori T, Aoki Y, Suzuki N, Kato M, Warita H, Takahashi T, Tateyama M, Nagashima T, Funayama R, Abe K, Nakayama K, Aoki M, Matsubara Y
    • Journal Title

      J Hum Genet

      Volume: 58(5) Issue: 5 Pages: 259-66

    • DOI

      10.1038/jhg.2013.9

    • NAID

      10031177220

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23591229, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148, KAKENHI-PUBLICLY-24116503, KAKENHI-PROJECT-24659421, KAKENHI-PROJECT-24700951
  • [Journal Article] 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] Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome2013

    • Author(s)
      Aoki Y, Niihori T, Banio T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T Nakayama K, Inoue S, Watanabe Y, Oeura T, Matsubara Y
    • Journal Title

      The American Journal of Human Genetics

      Volume: Volume 93, Issue 1 Issue: 1 Pages: 173-180

    • DOI

      10.1016/j.ajhg.2013.05.021

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-11J08517, KAKENHI-PLANNED-22127006, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23791148, KAKENHI-PUBLICLY-24116503, KAKENHI-PUBLICLY-24116701, KAKENHI-PROJECT-24370085, KAKENHI-PROJECT-24657127, KAKENHI-PROJECT-24700951, KAKENHI-PROJECT-24790189
  • [Journal Article] Ras/MAPK syndromes and childhood hemato-oncological diseases2013

    • Author(s)
      Aoki Y, Matsubara Y
    • Journal Title

      Int J Hematol

      Volume: 97 Issue: 1 Pages: 30-36

    • DOI

      10.1007/s12185-012-1239-y

    • NAID

      10031144632

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268
  • [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] Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A132012

    • Author(s)
      Kikuchi A, Arai-Ichinoi N, Sakamoto O, Matsubara Y, Saheki T, Kobayashi K, Ohura T, Kure S
    • Journal Title

      Mol Genet Metab

      Volume: 105(4) Issue: 4 Pages: 553-8

    • DOI

      10.1016/j.ymgme.2011.12.024

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-24591516
  • [Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease2012

    • Author(s)
      Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, Doi H, Sakai H, Saitsu ; H, Shimojima K, Yamamoto T, Higurashi M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto N, Mori, T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsuba S, Kure S, Matsumoto N
    • Journal Title

      Neurology

      Volume: 78(11) Issue: 11 Pages: 803-10

    • DOI

      10.1212/wnl.0b013e318249f71f

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591117, KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22790823, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534, KAKENHI-PROJECT-23390267, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659512, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23689052, KAKENHI-PROJECT-24240042, KAKENHI-PROJECT-24659486, KAKENHI-ORGANIZER-24118001
  • [Journal Article] A young man with progressive subcortical lesions and optic nerve atrophy2012

    • Author(s)
      Komatsuzaki S, Sakamoto O, Fuse N, Uematsu M, Matsubara Y, Ohura T. Clinical Reasoning
    • Journal Title

      Neurology

      Volume: 79(7) Issue: 7

    • DOI

      10.1212/wnl.0b013e3182648bb6

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659513
  • [Journal Article] Casitas B-cell lymphoma mutation in childhood T -cell acute lymphoblastic leukemia2012

    • Author(s)
      Saito Y, Aoki Y, Muramatsu H, Makishima H, Maciejewski JP, Imaizumi M, Rikiishi T, Sasahara Y, Kure S, Niihori T, Tsuchiya S, Kojima S, Matsubara Y
    • Journal Title

      Leuk Res

      Volume: 36(8) Issue: 8 Pages: 1009-15

    • DOI

      10.1016/j.leukres.2012.04.018

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23659511, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148, KAKENHI-PROJECT-24791054
  • [Journal Article] Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan2012

    • Author(s)
      Abe Y, Aoki Y, Ogata T, et al
    • Journal Title

      Am J Med Genet A

      Volume: (accepted)(Epub ahead of print) Issue: 5 Pages: 1083-1094

    • DOI

      10.1002/ajmg.a.35292

    • Peer Reviewed
    • Data Source
      KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-22249010, KAKENHI-PROJECT-23390268, KAKENHI-PROJECT-23651022, KAKENHI-PROJECT-23659513, KAKENHI-PROJECT-23791148
  • [Journal Article] Costello and CFC syndrome study group in Japan. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey2012

    • Author(s)
      Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y
    • Journal Title

      Am J Med GenetA

      Volume: 158A(5) Pages: 1083-1094

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659513
  • [Journal Article] Human variome project country nodes: Documenting genetic information within a country2012

    • Author(s)
      Patrinos GP, et al.
    • Journal Title

      Hum Mutat.

      Volume: 33(11) Issue: 11 Pages: 1513-1519

    • DOI

      10.1002/humu.22147

    • 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 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] Novel single nucleotide polymorphism of the CYP2A13 gene in Japanese individuals2011

    • Author(s)
      Tamaki Y, Honda M, Muroi Y, Arai T, Sugimura H, Matsubara Y, Kanno S, Ishikawa M, Hirasawa N, Hiratsuka M
    • Journal Title

      Drug Metab Pharmacokinet

      Volume: 26(5) Pages: 544-547

    • NAID

      130004463219

    • Peer Reviewed
    • Data Source
      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] Association between cancer risk anddrug-metabolizing enzyme gene (CYP2A6, CYP2A13, CYP4B1, SULT1A1, GSTM1, and GSTT1) polymorphisms in cases of lung cancer in Japan2011

    • Author(s)
      Tamaki Y, Arai T, Sugimura H, Sasaki T, Honda M, Muroi Y, Matsubara Y, Kanno S, Ishikawa M, Hirasawa N, Hiratsuka M
    • Journal Title

      Drug Metab Pharmacokinet

      Volume: 26(5) Pages: 516-522

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659513
  • [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] Functional characterization of CYP2B6 allelic variants in demethylation of antimalarial artemether2011

    • Author(s)
      Honda M, Muroi Y, Tamaki Y, Saigusa D, Suzuki N, Tomioka Y, Matsubara Y, Oda A, Hirasawa N, Hiratsuka M
    • Journal Title

      Drug Metab Dispos

      Volume: 39(10) Pages: 1860-1865

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23659513
  • [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] Non-Hodgkin lymphoma in a patient with cardio-facio-cutaneous syndrome2010

    • Author(s)
      Ohtake A, Matsubara Y, et al
    • Journal Title

      J Pediatr Hematol Oncol (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20018001
  • [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] Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation.2010

    • Author(s)
      Kobayashi T, Matsubara Y, et al.
    • Journal Title

      Human Mut. 31

      Pages: 284-294

    • 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, Matsubara Y, et al
    • Journal Title

      Human Mut. 31

      Pages: 284-294

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Journal Article] Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway : From bedside to bench and back.2010

    • Author(s)
      Rauen KA, Matsubara Y, et al.
    • Journal Title

      Am J Med Genet A 152A

      Pages: 4-24

    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway : From bedside to bench and back.2010

    • Author(s)
      Rauen KA, Matsubara Y, et al.
    • Journal Title

      Am J Med Genet A 152A

      Pages: 4-24

    • Data Source
      KAKENHI-PROJECT-21659250
  • [Journal Article] Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway : From bedside to bench and back2010

    • Author(s)
      Rauen KA, Matsubara Y, et al.
    • Journal Title

      Am J Med Genet A 152A

      Pages: 4-24

    • Data Source
      KAKENHI-PROJECT-20018001
  • [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 activation.2010

    • Author(s)
      Kobayashi T, Matsubara Y, et al.
    • Journal Title

      Human Mut. 31

      Pages: 284-294

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Journal Article] Planning the human variome project : the Spain report2009

    • Author(s)
      Kaput J, Matsubara Y, et al
    • Journal Title

      Hum Mutat 30(4)

      Pages: 496-510

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Journal Article] Planning the human variome project : the Spain report.2009

    • Author(s)
      Kaput J, Matsubara Y, et al
    • Journal Title

      Hum Mutat 30(4)

      Pages: 496-510

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Journal Article] Contributors to the Human Variome Project Planning Meeting2009

    • Author(s)
      Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blocker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Diaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Moslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O' Leary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Topel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS
    • Journal Title

      Planning the human variome project : the Spain report. Hum Mutat

      Volume: 30(4) Pages: 496-510

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Journal Article] Planning the human variome project : the Spain report.2009

    • Author(s)
      Kaput J, Matsubara Y, et al
    • Journal Title

      Hum Mutat 30(4)

      Pages: 496-510

    • 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

      Volume: 29(8) Pages: 992-1006

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [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] 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] BOSHI Study Group. Seasonal trends of blood pressure during pregnancy in Japan : the babies and their parents' longitudinal observation in Suzuki Memorial Hospital in Intrauterine Period study2008

    • Author(s)
      Metoki H, Ohkubo T, Watanabe Y, Nishimura M, Sato Y, Kawaguchi M, Hara A, Hirose T, Obara T, Asayama K, Kikuya M, Yagihashi K, Matsubara Y, Okamura K, Mori S, Suzuki M, Imai Y
    • Journal Title

      J Hypertens

      Volume: 26(12) Pages: 20406-13

    • Data Source
      KAKENHI-PROJECT-20390290
  • [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] Japanese Board of Medical Genetics2007

    • Author(s)
      Matsubara Y.
    • Journal Title

      Introduction To Genetic Counselig (Chugai-Igaku-Sha)

      Pages: 44-50

    • 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] 遺伝子検査ネットワーク.2007

    • Author(s)
      沼部 博直, 松原 洋一, 小崎 健次郎, 小杉 眞司
    • Journal Title

      臨床検査 51

      Pages: 1621-1623

    • Data Source
      KAKENHI-PROJECT-19590556
  • [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] 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] (2007)遺伝子診断を取り巻く最近の動向2007

    • Author(s)
      沼部博直、松原洋一、小崎健次郎、小杉眞司
    • Journal Title

      遺伝子検査ネットワーク臨床検査 51(12)

      Pages: 1621-1623

    • Data Source
      KAKENHI-PROJECT-19590556
  • [Journal Article] Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia2007

    • Author(s)
      Sakamoto O, Ohura T, Matsubara Y, Takayanagi M, Tsuchiya S.
    • Journal Title

      J Hum Genet 52

      Pages: 48-55

    • NAID

      10018515094

    • 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 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] Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension2006

    • Author(s)
      del Toro M, Arranz JA, Macaya A, Riudor E, Raspall M, Moreno A, Vazquez E, Ortega A, Matsubara Y, Kure S, Roig M.
    • Journal Title

      Ann Neurol 60

      Pages: 148-152

    • 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] Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.2003

    • Author(s)
      Matsubara Y, Kure S.
    • Journal Title

      Hum Mutat 22

      Pages: 166-172

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-15390111
  • [Journal Article] Detection of single nucleotide substitution by CASSOH with immunochromatographic strip.2003

    • Author(s)
      Matsubara Y, Kure S
    • Journal Title

      Hum Mutat 22

      Pages: 166-172

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-15390111
  • [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
  • [Journal Article] Non-Hodgkin lymphoma in a patient with cardio-facio-cutaneous syndrome.

    • Author(s)
      Ohtake A, Matsubara Y, et al
    • Journal Title

      J Pediatr Hematol Oncol (印刷中, 未定)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Journal Article] Non-Hodgkin lymphoma in a patient with cardio-facio-cutaneous syndrome.

    • Author(s)
      Ohtake A, Matsubara Y, et al
    • Journal Title

      J Pediatr Hematol Oncol (印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20390290
  • [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] 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] 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] Noonan syndrome model mice with RIT1 A57G mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis2019

    • Author(s)
      Shingo Takahara, Shin-ichi Inoue, Sachiko Miyagawa-Tomita, Katsuhisa Matsuura, Yasumi Nakashima, Tetsuya Niihori, Yoichi Matsubara, Yoshikatsu Saiki and Yoko Aoki
    • Organizer
      6th International RASopathies Symposium:Precision Medicine ; From Promise to Practice
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K19504
  • [Presentation] Noonan症候群類縁疾患の網羅的解析とLZTR1の機能解明2019

    • Author(s)
      青木洋子、梅木郁美、阿部太紀、岡本伸彦、水野誠司、黒澤健司、長崎啓祐、 吉田真、大橋博文、井上晋一, 松原洋一、藤原幾磨、呉繁夫、 新堀哲也
    • Organizer
      臨床遺伝2019 in Sapporo 第26回日本遺伝子診療学会大会
    • Data Source
      KAKENHI-PROJECT-17H04223
  • [Presentation] RIT1 A57G knock-in mice recapitulate features of Noonan syndrome.2019

    • Author(s)
      Inoue SI , Takahara S, Miyagawa-Tomita S, Matsuura K, Nakashima Y, Niihori T, Matsubara Y, Saiki Y, Aoki Y.
    • Organizer
      日本人類遺伝学会第64回大会
    • Data Source
      KAKENHI-PROJECT-18K19504
  • [Presentation] 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] 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] Noonan症候群と類縁疾患における遺伝子診断体制の確立とその病態解明2016

    • Author(s)
      青木洋子、梅木郁美、大場大樹、西山亜由美、矢尾板全子、井上晋一、松原洋一、新堀哲也
    • Organizer
      第23回 日本遺伝子診療学会大会
    • Place of Presentation
      東京 (イイノホール&カンファレンスセンター)
    • Data Source
      KAKENHI-PROJECT-26293241
  • [Presentation] ヌーナン症候群類縁疾患におけるRIT1遺伝子解析と臨床的特徴の検討2016

    • Author(s)
      矢尾板全子、大場大樹、梅木郁美、水野誠司、岡本伸彦、井上晋一、松原洋一、呉繁夫、新堀哲也、青木洋子
    • Organizer
      第119回日本小児科学会学術集会
    • Place of Presentation
      札幌 (ロイトン札幌)
    • Year and Date
      2016-05-13
    • Data Source
      KAKENHI-PROJECT-26293241
  • [Presentation] Therapeutic research in a mouse model of cardio-facio-cutaneous syndrome2016

    • Author(s)
      Oba D, Inoue S, Moriya M, Watanabe Y, Niihori T, Miyagawa-Tomita S, Ono M, Kure S, Ogura T, Matsubara Y, Aoki Y
    • Organizer
      ICHG 2016 The 13th International Congress of Human Genetics
    • Place of Presentation
      京都 (国立京都国際会館)
    • Year and Date
      2016-04-03
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-16K15522
  • [Presentation] 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] 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] 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] 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] A mutation in A-band titin is associated with hereditary myopathy with early respiratory failure in a Japanese family2013

    • Author(s)
      R. Izumi, T . Niihori, Y. Aoki, N. Suzuki, M. Kato, H. Warita, T . Takahashi, M. Tateyama, T . Nagashima, R. Funayama, K. Abe, K. Nakayama, M. Aoki, Y . Matsubara
    • Organizer
      American Society of Human Genetics 63rd Annual Meeting
    • Place of Presentation
      米国 ・ ボストン
    • Data Source
      KAKENHI-PROJECT-23390268
  • [Presentation] Myofibrillar myopathy の大家系における次世代型シークエンサーを用いた新たな原因遺伝子の同定2013

    • Author(s)
      井泉 瑠美子, 新堀 哲也, 青木 洋子, 鈴木 直輝, 加藤 昌昭, 割田 仁, 高橋 俊明, 竪山 真規, 長嶋 剛史, 舟山 亮, 阿部 康二, 中山 啓子, 青木 正志, 松原 洋一
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-23390268
  • [Presentation] エクソーム解析により TBX1変異が同定された家族性の特徴的顔貌・鼻咽頭閉鎖不全・低 Ca 血症を呈する 5 例2013

    • Author(s)
      緒方 勤, 田中 紀子, 河井 昌彦, 深見 真紀, 新堀 哲也, 青木 洋子, 松原 洋一
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-23390268
  • [Presentation] Exome sequencing identifies mutations in a novel gene in patients with Noonan syndrome2013

    • Author(s)
      T . Niihori, Y . Aoki, T . Banjo, N. Okamoto, S. Mizuno, K. Kurosawa, T . Ogata, F . Takada, M. Y ano, T . Ando, T . Hoshika, C. Barnett, H. Ohashi, H. Kawame, T . Hasegawa, T . Okutani, T . Nagashima, S. Hasegawa, R. Funayama, T . Nagashima, K. Nakayama, S. Inoue, Y .Watanabe, T . Ogura, Y . Matsubara
    • Organizer
      American Society of Human Genetics 63rd Annual Meeting
    • Place of Presentation
      米国・ボストン
    • Data Source
      KAKENHI-PROJECT-23390268
  • [Presentation] エクソームシークエンスによる Noonan 症候群新規原因遺伝子 RIT1 の同定2013

    • Author(s)
      新堀 哲也, 青木 洋子, 番匠 俊博, 岡本 伸彦, 水野 誠司, 黒澤 健司, 緒方 勤, 高田 史男, 長谷川 奉延, 舟山 亮, 長嶋 剛史, 中山 啓子, 井上 晋一, 渡邊 裕介, 小椋 利彦, 松原 洋一
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Data Source
      KAKENHI-PROJECT-23390268
  • [Presentation] 東北大学病院遺伝科の現状2012

    • Author(s)
      飯倉立夏, 青木洋子, 新堀哲也, 小松崎匠子, 松原洋一
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23390268
  • [Presentation] Noonan症候群類縁疾患と小児血液腫瘍におけるCBLの分子遺伝学的解析2012

    • Author(s)
      齋藤由佳、青木洋子、村松秀樹、今泉益栄、力石健、笹原洋二、呉繁夫、新堀哲也、小島勢二、松原洋一
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23659513
  • [Presentation] Identification of a susceptibility gene for Moyamoya disease, RNF213 by a genome-wide association study2011

    • Author(s)
      S. Kure, F. Kamada, Y. Aoki ,Y. Abe S, Komatsuzaki, A. Kikuch, J.Kanno, T. Niihori, M. Fuji-mura,Y. Mashimo, M. Ono, N. Ishii, Y. Owada, Y. Suzuki, A. Hata,T. Tominaga, Y. Matsubara
    • Organizer
      12th International Congress of Human Genetics
    • Place of Presentation
      モントリオール、カナダ
    • Data Source
      KAKENHI-PROJECT-23659513
  • [Presentation] 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] コステロ症候群の遺伝子解析および HRAS 変異体の機能解析2011

    • Author(s)
      新堀哲也, 青木洋子, 岡本伸彦, 黒澤健司, 大橋博文, 水野誠司, 川目裕, 松原洋一
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Data Source
      KAKENHI-PROJECT-23390268
  • [Presentation] Noonan症候群類縁疾患におけるRAF1遺伝子解析とその発症メカニズムの解明2010

    • Author(s)
      松原洋一
    • Organizer
      第17回日本遺伝子診療学会大会
    • Place of Presentation
      津
    • Year and Date
      2010-08-06
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] Noonan症候群類縁疾患におけるRAF1遺伝子解析とその発症メカニズムの解明2010

    • Author(s)
      松原洋一, 他
    • Organizer
      第17回日本遺伝子診療学会大会
    • Place of Presentation
      津市
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] Noonan症候群類縁疾患におけるRAF1遺伝子解析とその発症メカニズムの解明2010

    • Author(s)
      松原洋一, 他
    • Organizer
      第17回日本遺伝子診療学会大会
    • Place of Presentation
      津市
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Presentation] 遺伝性疾患の遺伝子変異データベースと遺伝子検査ネットワーク2009

    • Author(s)
      松原洋一
    • Organizer
      第16回日本遺伝子診療学会大会
    • Place of Presentation
      札幌
    • Year and Date
      2009-07-31
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Presentation] Comprehensive clinical and molecular diagnosis of RAS/MAPK syndromes2009

    • Author(s)
      松原洋一
    • Organizer
      東アジア人類遺伝学会連合第9回大会
    • Place of Presentation
      ソウル(韓国)
    • Year and Date
      2009-11-19
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] Molecular diagnosis of inherited metabolic diseases2009

    • Author(s)
      松原洋一
    • Organizer
      韓国先天代謝異常学会
    • Place of Presentation
      ソウル(韓国)
    • Year and Date
      2009-06-27
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] Molecular diagnosis of inherited metabolic diseases2009

    • Author(s)
      松原洋一
    • Organizer
      韓国先天代謝異常学会
    • Place of Presentation
      ソウル(韓国)
    • Year and Date
      2009-06-27
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Presentation] 遺伝性疾患の遺伝子変異データベースと遺伝子検査ネットワーク2009

    • Author(s)
      松原洋一
    • Organizer
      第16回日本遺伝子診療学会大会
    • Place of Presentation
      札幌
    • Year and Date
      2009-07-31
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Presentation] The RAS/MAPK syndromes : emerging disorders in the Ras signaling pathway2009

    • Author(s)
      松原洋一
    • Organizer
      第11回国際先天代謝異常学会
    • Place of Presentation
      サンディエゴ(米国)
    • Year and Date
      2009-08-30
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Presentation] 遺伝性疾患の遺伝子変異データベースと遺伝子検査ネットワーク2009

    • Author(s)
      松原洋一
    • Organizer
      第16回日本遺伝子診療学会大会
    • Place of Presentation
      札幌
    • Year and Date
      2009-07-31
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] Comprehensive clinical and molecular diagnosis of RAS/MAPK syndromes2009

    • Author(s)
      松原洋一
    • Organizer
      東アジア人類遺伝学会連合第9回大会
    • Place of Presentation
      ソウル(韓国)
    • Year and Date
      2009-11-19
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Presentation] The RAS/MAPK syndromes : emerging disorders in the Ras signaling pathway2009

    • Author(s)
      松原洋一
    • Organizer
      第11回国際先天代謝異常学会
    • Place of Presentation
      サンディエゴ(米国)
    • Year and Date
      2009-08-30
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Presentation] 新たな転換期を迎える単一遺伝性疾患の研究と臨床2009

    • Author(s)
      松原洋一
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] 新たな転換期を迎える単一遺伝性疾患の研究と臨床2009

    • Author(s)
      松原洋一
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Presentation] Molecular diagnosis of inherited metabolic diseases2009

    • Author(s)
      松原洋一
    • Organizer
      韓国先天代謝異常学会
    • Place of Presentation
      ソウル(韓国)
    • Year and Date
      2009-06-27
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Presentation] Comprehensive clinical and molecular diagnosis of RAS/MAPK syndromes2009

    • Author(s)
      松原洋一
    • Organizer
      東アジア人類遺伝学会連合第9回大会
    • Place of Presentation
      ソウル(韓国)
    • Year and Date
      2009-11-19
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Presentation] The RAS/MAPK syndromes : emerging disorders in the Ras signaling pathway2009

    • Author(s)
      松原洋一
    • Organizer
      第11回国際先天代謝異常学会
    • Place of Presentation
      サンディエゴ(米国)
    • Year and Date
      2009-08-30
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] 新たな転換期を迎える単一遺伝性疾患の研究と臨床2009

    • Author(s)
      松原洋一
    • Organizer
      日本人類遺伝学会第54回大会
    • Place of Presentation
      東京
    • Year and Date
      2009-09-24
    • Data Source
      KAKENHI-PROJECT-21659250
  • [Presentation] わが国における希少遺伝性疾患の遺伝子診断ネットワークの構築2008

    • Author(s)
      松原洋一, ら
    • Organizer
      第111回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] The RAS / MAPK syndromes : Novel roles of the RAS pathway in human genetic disorders2008

    • Author(s)
      松原洋一, ら
    • Organizer
      The 2008 EAUHGS Symposium and the 8th EAUHGS Annual Meeting
    • Place of Presentation
      札幌、日本
    • Year and Date
      2008-07-19
    • Data Source
      KAKENHI-PROJECT-20390290
  • [Presentation] The RAS/MAPK syndromes : Novel roles of the RAS pathway in human genetic disorders2008

    • Author(s)
      松原洋一, ら
    • Organizer
      The 2008 EAUHGS Symposium and the 8th EAUHGS Annual Meeting
    • Place of Presentation
      札幌、日本
    • Year and Date
      2008-07-19
    • Data Source
      KAKENHI-PROJECT-19659083
  • [Presentation] The RAS/MAPK syndromes : Novel roles of the RAS pathway in human genetic disorders2008

    • Author(s)
      松原洋一, ら
    • Organizer
      The 2008 EAUHGS Symposium and the 8th EAUHGS Annual Meeting
    • Place of Presentation
      札幌、日本
    • Year and Date
      2008-07-19
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Presentation] わが国における希少遺伝性疾患の遺伝子診断ネットワークの構築2008

    • Author(s)
      松原洋一, ら
    • Organizer
      第111回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-20018001
  • [Presentation] わが国んにおける希少遺伝性疾病の遺伝子診断ネットワークの構築2008

    • Author(s)
      松原洋一, ら
    • Organizer
      第111回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-19659083
  • [Presentation] 稀少遺伝性疾患に対する遺伝子診断ネットワーク構築の試み2007

    • Author(s)
      松原洋一、福嶋義光、小崎健次郎、堤正好、成澤邦明、青木継稔、鎌谷直之、山口清次、小杉眞司、奥山虎之、櫻井晃洋、呉繁夫
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      京王プラザホテル(東京都)
    • Data Source
      KAKENHI-PROJECT-19590556
  • [Presentation] BRAF knock-in mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in RASopathies

    • Author(s)
      井上晋一、守谷充司、渡邉裕介、宮川-富田幸子、新堀哲也、大場大樹、小野栄夫、呉繁夫、小椋利彦、松原洋一、青木洋子
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      横浜、パシフィコ横浜
    • Year and Date
      2014-11-25 – 2014-11-27
    • Data Source
      KAKENHI-PROJECT-26293241
  • [Presentation] 次世代シークエンサーを用いた希少遺伝性難病病因遺伝子の探索

    • Author(s)
      新堀哲也、井泉瑠美子、西山亜由美、矢尾板全子、大場大樹、守谷充司、井上晋一、舟山亮、城田松之、中山啓子、松原洋一、青木洋子
    • Organizer
      第3回生命医薬情報学連合大会
    • Place of Presentation
      仙台国際センター(仙台市)
    • Year and Date
      2014-10-02 – 2014-10-04
    • Data Source
      KAKENHI-PROJECT-26461520
  • [Presentation] ヌーナン症候群の新規原因遺伝子RIT1の同定

    • Author(s)
      青木洋子、新堀哲也、岡本伸彦、水野誠司、黒澤健司、緒方勤、井上晋一、松原洋一
    • Organizer
      第117回日本小児科学会学術集会
    • Place of Presentation
      名古屋、名古屋国際会議場
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-26293241
  • [Presentation] ヌーナン症候群の新規原因遺伝子RIT1の同定

    • Author(s)
      青木洋子、新堀哲也、岡本伸彦、水野誠司、黒澤健司、緒方勤、井上晋一、松原洋一
    • Organizer
      第117回日本小児科学会学術集会
    • Place of Presentation
      名古屋、名古屋国際会議場
    • Year and Date
      2014-04-11 – 2014-04-13
    • Data Source
      KAKENHI-PROJECT-26670490
  • [Presentation] 次世代シークエンサーによる遺伝性疾患研究・診療のパラダイムシフト

    • Author(s)
      松原洋一
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Invited
    • Data Source
      KAKENHI-PROJECT-23390268
  • [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.  KURE Shigeo (10205221)
    # of Collaborated Projects: 21 results
    # of Collaborated Products: 27 results
  • 2.  AOKI Yoko (80332500)
    # of Collaborated Projects: 17 results
    # of Collaborated Products: 71 results
  • 3.  SUZUKI Youichi (80216457)
    # of Collaborated Projects: 12 results
    # of Collaborated Products: 0 results
  • 4.  NIIHORI Tetsuya (40436134)
    # of Collaborated Projects: 9 results
    # of Collaborated Products: 46 results
  • 5.  NARISAWA Kuniaki (90004647)
    # of Collaborated Projects: 8 results
    # of Collaborated Products: 0 results
  • 6.  INOUE Shinichi (70622091)
    # of Collaborated Projects: 5 results
    # of Collaborated Products: 21 results
  • 7.  Umeki Ikumi
    # of Collaborated Projects: 3 results
    # of Collaborated Products: 0 results
  • 8.  NUMABE Hironao (00237801)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 2 results
  • 9.  KOSAKI Kenjiro (30234743)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 3 results
  • 10.  NOMURA Fumio (80164739)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 11.  IKEDA Katsuhisa (70159614)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 12.  ENOMOTO Fuyuki (00281361)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 13.  MINOWA Osamu (00181967)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 14.  山田 敦 (60107662)
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 15.  OBA Daiju
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 4 results
  • 16.  NISHIYAMA Ayumi
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 17.  TAKAHARA Shingo
    # of Collaborated Projects: 2 results
    # of Collaborated Products: 0 results
  • 18.  KOSUGI Shinji (50252432)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 3 results
  • 19.  KOBAYASHI Tomoko (50436119)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 20.  KAWAME Hiroshi (60246395)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 21.  KIKUCHI Toshiaki (10280926)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 22.  INOUE Akira (70361087)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 23.  SAKAKIBARA Tomohiro (80422111)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 24.  ABE Koji (20212540)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 25.  SATOH Hiroshi (40125571)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 26.  SHIMIZU Tetsuro (70117711)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 27.  NAKAI Kunihiko (00291336)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 28.  YOSHIKAWA Hirosi (50133327)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 29.  FUKUSHIMA Kunihiro (50284112)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 30.  YOKOI Hidenori (80317487)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 31.  遠藤 仁司 (50221817)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 32.  萩野谷 和裕 (00208414)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 33.  鈴木 雅明 (40261630)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 34.  TODE Naoki
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 35.  HIRANO Taizou
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 36.  YAOITA Masako
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 37.  MIKAMI Hitoshi
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 38.  HAGIWARA H
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 39.  FUJIKI Yukio
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 40.  HIROSE Toshio
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 41.  KUROIWA Yoshiyuki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 42.  KOYANO Shigeru
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 43.  OGATA Tsutomu
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 2 results
  • 44.  FUKAMI Maki
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 45.  MURAKAMI Yoshiko
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 46.  阿部 太紀
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 47.  井原 健二
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 48.  笹原 洋二
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

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