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Genotype-phenotype correlations in non-syndromic tooth agenesispatients.

Research Project

Project/Area Number 20791568
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Orthodontic/Pediatric dentistry
Research InstitutionTokyo Medical and Dental University

Principal Investigator

OGAWA Takuya  Tokyo Medical and Dental University, 大学院・医歯学総合研究科, 助教 (50401360)

Project Period (FY) 2008 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2009: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2008: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Keywords先天性多数歯欠損症 / PAX9 / MSX1 / 転写因子 / 先天性多数歯欠損
Research Abstract

Mutations in the paired-domain transcription factor PAX9 are associated with non-syndromic tooth agenesis that preferentially affects posterior dentition. We determined the structural and functional consequences of these paired domain missense mutations and correlated our findings with the associated dental phenotype variations. The degree of loss of DNA-binding and promoter activation correlated quite well with the severity of the tooth agenesis pattern in vivo. Our structure-based studies, which modeled DNA binding and subdomain stability, were able to predict functional consequences quite reliably.

Report

(3 results)
  • 2009 Annual Research Report   Final Research Report ( PDF )
  • 2008 Annual Research Report
  • Research Products

    (19 results)

All 2010 2009 2008

All Journal Article (4 results) (of which Peer Reviewed: 4 results) Presentation (14 results) Book (1 results)

  • [Journal Article] Systemic and maxillofacial characteristics of individuals affected by Beck with-Wiedemann syndrome who have not received a glossectomy2010

    • Author(s)
      Kawafuji A, Suda N, Suzuki T, Ichikawa N, Kakara S, Baba Y, Ogawa T, Tsuji M, Moriyama K.
    • Journal Title

      Am J Orthod Dentfacial Orthop (In press)

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX9.2009

    • Author(s)
      Wang Y, Groppe JC, Wu J, Ogawa T, Mues G, D'Souza RN, Kapadia H.
    • Journal Title

      Hum Mol Genet. 18(15)

      Pages: 2863-2874

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Systemic and maxillofacial characteristics of individuals affected by Beckwith-Wiedemann syndrome who have not received a glossectomy.2009

    • Author(s)
      Kawafuji A, Suda N, Suzuki T, Ichikawa N, Kakara S, Baba Y, Ogawa T, Tsuji M, Moriyama K.
    • Journal Title

      Am J Orthod Dentfacial Orthop. (in press)

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Pathogenic mechanisms of tooth agenesis linked to paired domain mutations in human PAX92009

    • Author(s)
      Wang Y, Groppe JC, Wu J, Ogawa T, Mues G, D'Souza RN, Kapadia H.
    • Journal Title

      Hum Mol Genet 18(15)

      Pages: 2863-74

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] 先天性多数歯欠損症におけるPAX9遺伝子変異と欠損歯数との関連2010

    • Author(s)
      小川卓也、森山啓司
    • Organizer
      第3回硬組織疾患ゲノムセンターシンポジウム
    • Place of Presentation
      東京医科歯科大学(東京都)
    • Year and Date
      2010-02-16
    • Related Report
      2009 Annual Research Report 2009 Final Research Report
  • [Presentation] 先天性多数歯欠損症患者の顎顔面形態に関する頭部X線規格写真を用いた検討2009

    • Author(s)
      茂木和久、福岡裕樹、小川卓也、阿彦希、岡村絵里花、中山友美子、馬場祥行、森山啓司
    • Organizer
      第68回日本矯正歯科学会
    • Place of Presentation
      福岡
    • Related Report
      2009 Annual Research Report 2009 Final Research Report
  • [Presentation] Dentofacial changes of a congenital myopathy patient after orthodontic treatment.2009

    • Author(s)
      Ogawa T, Wirahadi Kusumah S, Moriyama K.
    • Organizer
      85th Congress of the European Orthodontic Society
    • Place of Presentation
      Helsinki
    • Related Report
      2009 Final Research Report
  • [Presentation] Characteristics of Japanese Beckwith-Wiedemann syndrome patients without glossectomy.2009

    • Author(s)
      Suda N, Kawafuji A, Ogawa T, Tsuji M, Moriyama.
    • Organizer
      85th Congress of the European Orthodontic Society
    • Place of Presentation
      Helsinki
    • Related Report
      2009 Final Research Report
  • [Presentation] Dentofacial changes of a congenital myopathy patient after orthodontic treatment2009

    • Author(s)
      Ogawa T, Wirahadi Kusumah S, Moriyama K.
    • Organizer
      85th Congress of the European Orthodontic Society
    • Place of Presentation
      Helsinki
    • Related Report
      2009 Annual Research Report
  • [Presentation] Characteristics of Japanese Beckwith-Wiedemann syndrome patients without glossectomy2009

    • Author(s)
      Suda N, Kawafuji A, Ogawa T, Tsuji M, Moriyama
    • Organizer
      85th Congress of the European Orthodontic Society
    • Place of Presentation
      Helsinki
    • Related Report
      2009 Annual Research Report
  • [Presentation] 歯科用コーンビームCT画像によるhemtifacial microsomiaの顎関節周辺部の三次元的解析2009

    • Author(s)
      金谷和宏、小川卓也、辻美千子、須田直人、大林尚人、倉林亨、森山啓司
    • Organizer
      第67回日本矯正歯科学会大会
    • Place of Presentation
      千葉
    • Related Report
      2008 Annual Research Report
  • [Presentation] Systemic and maxillofacial characteristics of Beckwith-Wiedemann syndrome patients without having glossectomy.2008

    • Author(s)
      Kawafuji A, Suda N, Ichikawa N, Kakara S, Suzuki T, Ogawa T, Tsuji M, Moriyama K.
    • Organizer
      2nd Joint Meeting of the Korean Association of Orthodontists and the Japanese Orthodontic Society
    • Place of Presentation
      Seoul
    • Related Report
      2009 Final Research Report
  • [Presentation] PAX9の変異を有する先天性多数歯欠損家系におけるMSX1の多型解析2008

    • Author(s)
      小川卓也、森山啓司
    • Organizer
      第26回日本骨代謝学会学術集会
    • Place of Presentation
      大阪
    • Related Report
      2009 Final Research Report 2008 Annual Research Report
  • [Presentation] 矯正治療後に長期観察を行った先天性ミオパチー患者の顎態変化2008

    • Author(s)
      小川卓也、シンタウィラハディクスマ、森山啓司
    • Organizer
      第67回日本矯正歯科学会大会
    • Place of Presentation
      千葉
    • Related Report
      2009 Final Research Report 2008 Annual Research Report
  • [Presentation] 歯科用コーンビームCT画像によるhemifacial microsomiaの顎関節周辺部の三次元的解析2008

    • Author(s)
      金谷和宏、小川卓也、辻美千子、須田直人、大林尚人、倉林亨、森山啓司
    • Organizer
      第67回日本矯正歯科学会大会
    • Place of Presentation
      千葉
    • Related Report
      2009 Final Research Report
  • [Presentation] 機能的矯正装置で治療したhemifacial microsomia 5例の顎態の非対称性変化に関する検討2008

    • Author(s)
      佐藤麻緒、ウン・イン・ウー、小川卓也、辻美千子、須田直人、小野卓史、森山啓司
    • Organizer
      第67回日本矯正歯科学会大会
    • Place of Presentation
      千葉
    • Related Report
      2009 Final Research Report
  • [Presentation] 集学的歯科治療により咬合の確立を図ったoligodontiaの2症例2008

    • Author(s)
      鈴木剛史、小川卓也、佐藤麻緒、井口隆人、川元龍夫、森山啓司
    • Organizer
      第67回日本矯正歯科学会大会
    • Place of Presentation
      千葉
    • Related Report
      2009 Final Research Report 2008 Annual Research Report
  • [Presentation] Systemic and maxillofacial characteristics of Beckwith-Wiedemanr syndrome patients without having glossectomy2008

    • Author(s)
      Kawafuji A, Suda N, Ichikawa N, Kakara S, Suzuki T, Ogawa T, Tsuji M, Moriyama K
    • Organizer
      2nd Joint Meeting of the Korean Association of Orthodontists and the Japanese Orthodontic Society
    • Place of Presentation
      Seoul
    • Related Report
      2008 Annual Research Report
  • [Book] 矯正歯科治療この症例にこの装置2010

    • Author(s)
      小川卓也、森山啓司
    • Publisher
      医歯薬出版株式会社
    • Related Report
      2009 Annual Research Report 2009 Final Research Report

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Published: 2008-04-01   Modified: 2016-04-21  

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