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Role of BCOR in root formation with OFCD syndrome

Research Project

Project/Area Number 22792038
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  東京医科歯科大学, 大学院・医歯学総合研究科, 講師 (50401360)

Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2010: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
KeywordsOFCD 症候群 / BCOR / 歯髄・歯根膜細胞 / 歯学 / 遺伝学 / OFCD / 歯根形成 / OFCD症候群
Research Abstract

Oculofaciocardiodental (OFCD) syndrome is a rare X-linked dominant hereditary trait in heterozygous females. Recently, mutations in BCOR, encoding the BCL6 corepressor, have been described to cause OFCD syndrome. In this study, we identified a novel frameshift mutation in BCOR in an OFDC patient. Analysis of nonsense-mediated mRNA decay (NMD), it was significantly increased in BCOR differential expression in OFCD periodontal (PDL) cells. A novel mutation leading to a premature termination codon may affect mRNA expression of BCOR in PDL cells.

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (30 results)

All 2013 2012 2011 2010

All Journal Article (9 results) (of which Peer Reviewed: 7 results) Presentation (21 results)

  • [Journal Article] Long-term maxillomandibular changes after maxillary distraction osteogenesis in growing children with cleft lip and palate2013

    • Author(s)
      Honda A, Baba Y, Ogawa T, Suzuki S, Moriyama K
    • Journal Title

      Cleft Palate Craniofac J

      Volume: 50(2) Issue: 2 Pages: 168-173

    • DOI

      10.1597/11-177

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Dental and maxillofacial characteristics in six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting(EEC) syndrome2012

    • Author(s)
      Okamura E, Suda N, Baba Y, Fukuoka H, Ogawa T, Ohkuma M, Ahiko N, Yasue A, Tengan T, Shiga M, Tsuji M, Moriyama K
    • Journal Title

      Cleft Palate Craniofac J

      Volume: (印刷中) Issue: 2 Pages: 192-200

    • DOI

      10.1597/11-123

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Prevalence and gender comparison of malocclusion among Japanese adolescents: A population-based study2012

    • Author(s)
      Komazaki Y, Fujiwara T, Ogawa T, Sato M, Suzuki K, Yamagata Z, Moriyama K
    • Journal Title

      J World Fed Orthod

      Volume: 1 Pages: 67-72

    • URL

      http://www.jwfo.org/article/S2212-4438

    • Related Report
      2012 Final Research Report
  • [Journal Article] 成長期における先天性多数歯欠如(oligodontia)患者の顎顔面形態についての検討2012

    • Author(s)
      茂木和久、小川卓也、馬場祥行、森山啓司
    • Journal Title

      Orthodontic Waves-Japanese Edition

      Volume: 71(3) Pages: 187-193

    • Related Report
      2012 Final Research Report
  • [Journal Article] 成長期における先天性多数歯欠如(oligodontia)患者の顎顔面形態についての検討.2012

    • Author(s)
      茂木和久
    • Journal Title

      Orthodontic Waves-Japanese Edition

      Volume: 71(3) Pages: 187-193

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Dental and maxillofacial characteristics in six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome2012

    • Author(s)
      Okamura E
    • Journal Title

      Cleft Palate Craniofac J

      Volume: (in press)

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Familial Non-syndromic Oligodontia with a Novel Frame Shift Mutation of PAX9 is Related to Impaired RNA Stability2011

    • Author(s)
      Suda N, Ogawa T, Kojima T, Saito C, Moriyama K
    • Journal Title

      J Dent Res

      Volume: 90 Issue: 3 Pages: 382-6

    • DOI

      10.1177/0022034510390042

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] Systemic and maxillofacial characteristics of individuals affected by Beckwith-Wiedemann syndrome who have not received a glossectomy2011

    • 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

      Volume: 139 Issue: 4 Pages: 517-25

    • DOI

      10.1016/j.ajodo.2009.07.021

    • Related Report
      2012 Final Research Report 2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Non-syndromic oligodontia with a novel mutation of PAX9.2011

    • Author(s)
      Suda N, Ogawa T, Kojima T, Saito C, Moriyama K.
    • Journal Title

      Journal of Dental Research

      Volume: 90 Pages: 382-386

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] Oculofaciocardiodental Syndrome: Novel BCOR Mutation and Expression in Dental Cells2013

    • Author(s)
      Surapornsawasd T, Ogawa T, Shimokawa H, Moriyama K
    • Organizer
      The 91st General Session & Exhibition of the International Association for Dental Research
    • Place of Presentation
      Seattle, USA
    • Related Report
      2012 Final Research Report
  • [Presentation] 日本の中学生における不正咬合と頭痛との関係について~甲州市母子保健縦断調査2013

    • Author(s)
      駒崎裕子、藤原武男、小川卓也、佐藤美理、鈴木孝太、山縣然太朗、森山啓司
    • Organizer
      第23回日本疫学学会学術総会
    • Place of Presentation
      大阪
    • Related Report
      2012 Final Research Report
  • [Presentation] Oculofaciocardiodental Syndrome: Novel BCOR Mutation and Expression in Dental Cells.2013

    • Author(s)
      Surapornsawasd, T.
    • Organizer
      The 91st General Session & Exhibition of the International Association for Dental Research
    • Place of Presentation
      Seattle
    • Related Report
      2012 Annual Research Report
  • [Presentation] 日本の中学生における不正咬合の疫学調査~甲州市母子保健縦断調査2012

    • Author(s)
      駒崎裕子、藤原武男、小川卓也、佐藤美理、鈴木孝太、山縣然太朗、森山啓司
    • Organizer
      第22回日本歯科医学会総会
    • Place of Presentation
      大阪
    • Year and Date
      2012-11-11
    • Related Report
      2012 Final Research Report
  • [Presentation] Marfan症候群患者に対する矯正治療の一例2012

    • Author(s)
      志賀百年、小川卓也、森山啓司
    • Organizer
      第71回東京矯正歯科学会大会
    • Place of Presentation
      東京
    • Year and Date
      2012-07-12
    • Related Report
      2012 Final Research Report
  • [Presentation] Oculofaciocardiodental syndromeにおける新規BCOR遺伝子変異の同定2012

    • Author(s)
      スラポンサワッド タンヤポン、小川卓也、下川仁弥太、森山啓司
    • Organizer
      第71回日本矯正歯科学会大会
    • Place of Presentation
      盛岡
    • Related Report
      2012 Final Research Report
  • [Presentation] 乳歯列完成期における不正咬合の発生率ならびに歯の発育異常に関する疫学的検討2012

    • Author(s)
      小川卓也、駒崎裕子、澤田紘美、佐藤智美、寺島多実子、山本俊雄、藤原武男、森山啓司
    • Organizer
      第71回日本矯正歯科学会大会
    • Place of Presentation
      盛岡
    • Related Report
      2012 Final Research Report
  • [Presentation] Noonan症候群患者に関する検討(第1報)-全身的臨床症状および成長様相について2012

    • Author(s)
      宮本順、片岡恵一、スラポンサワッドタンヤポン、志賀百年、小川卓也、辻美千子、森山啓司
    • Organizer
      第71回日本矯正歯科学会大会
    • Place of Presentation
      盛岡
    • Related Report
      2012 Final Research Report
  • [Presentation] 先天性多数歯欠損の症例に顎矯正手術を適応した3症例2012

    • Author(s)
      小杉真智子、中久木康一、小川卓也、本田康二、黒原一人、〓武啓幸、細木美佐、友松伸充、小野卓史、森山啓司、山城正司、原田清
    • Organizer
      第22回日本顎変形症学会総会
    • Place of Presentation
      福岡
    • Related Report
      2012 Final Research Report
  • [Presentation] 当分野における非症候群性口唇裂・口蓋裂の家系内発生ならびに母体の環境要因に関する臨床統計的調査2012

    • Author(s)
      大宅彩、小川卓也、駒崎裕子、藤原武男、森山啓司
    • Organizer
      第36回日本口蓋裂学会総会・学術集会
    • Place of Presentation
      京都
    • Related Report
      2012 Final Research Report
  • [Presentation] Oculofaciocardiodental syndromeにおける新規BCOR遺伝子変異の同定.2012

    • Author(s)
      スラポンサワッド タンヤポン
    • Organizer
      第71回日本矯正歯科学会大会
    • Place of Presentation
      盛岡
    • Related Report
      2012 Annual Research Report
  • [Presentation] 当分野における非症候群性口唇裂・口蓋裂の家系内発生ならびに母体の環境要因に関する臨床統計的調査.2012

    • Author(s)
      大宅彩
    • Organizer
      第36回日本口蓋裂学会総会・学術集会
    • Place of Presentation
      京都
    • Related Report
      2012 Annual Research Report
  • [Presentation] The Methods of Three-Dimentional Anthropometric Measurements for Infants / Toddlers Face With Minor Anomalies2011

    • Author(s)
      Komazaki Y, Fujiwara T, Kosaki R, Ogawa T, Moriyama K
    • Organizer
      The 52nd Annual Meeting of the European for Paediatric Research
    • Place of Presentation
      Newcastle, UK
    • Related Report
      2012 Final Research Report
  • [Presentation] Clinical surveys on associated anomalies in cases with isolated cleft palate2011

    • Author(s)
      Ogawa T, Ohya A, Sato M, Baba Y, Moriyama K
    • Organizer
      The 9th European Craniofacial Congress
    • Place of Presentation
      Salzburg, Austria
    • Related Report
      2012 Final Research Report
  • [Presentation] 当分野における先天異常患者の実態調査と当該患者に対するカウンセリングの概要について2011

    • Author(s)
      辻美千子、小川卓也、岡村絵里花、鈴木尋之、志賀百年、鈴木聖一、森山啓司
    • Organizer
      第70回日本矯正歯科学会&第4回国際会議
    • Place of Presentation
      名古屋
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] 当分野を受診したRussell-Silver症候群患者の臨床症状に関する検討2011

    • Author(s)
      柘植理紗、小川卓也、上園将慶、丸岡亮、大隈瑞恵、志賀百年、辻美千子、須田直人小崎健次郎、森山啓司
    • Organizer
      第70回日本矯正歯科学会&第4回国際会議
    • Place of Presentation
      名古屋
    • Related Report
      2012 Final Research Report 2011 Annual Research Report
  • [Presentation] 当分野の口蓋裂症例における合併症状に関する検討2011

    • Author(s)
      大宅彩、小川卓也、阿彦希、佐藤麻緒、片岡恵一、井口隆人、小林起穂、東堀紀尚、春山直人、馬場祥行、森山啓司
    • Organizer
      第70回日本矯正歯科学会&第4回国際会議
    • Place of Presentation
      名古屋
    • Related Report
      2012 Final Research Report
  • [Presentation] Clinical surveys on associated anomalies in cases with isolated cleft palate2011

    • Author(s)
      Ogawa T
    • Organizer
      The 9th European Craniofacial Congress
    • Place of Presentation
      Salzburg
    • Related Report
      2011 Annual Research Report
  • [Presentation] 長期にわたって矯正歯科的管理を行った小舌症の一例2010

    • Author(s)
      小川卓也、辻美千子、森山啓司
    • Organizer
      第69回東京矯正歯科学会
    • Place of Presentation
      東京
    • Year and Date
      2010-07-15
    • Related Report
      2012 Final Research Report 2010 Annual Research Report
  • [Presentation] PAX9遺伝子に新規フレームシフト型変異を有する先天性多数歯欠損家系の解析2010

    • Author(s)
      須田直人、小川卓也、小島拓、森山啓司
    • Organizer
      第52回歯科基礎医学会学術大会
    • Place of Presentation
      東京
    • Related Report
      2012 Final Research Report 2010 Annual Research Report
  • [Presentation] EEC症候群患者における全身および顎顔面・口腔領域の異常に関する検討2010

    • Author(s)
      阿彦希、須田直人、辻美千子、小川卓也、大隈瑞恵、福岡裕樹、岡村絵里花、鈴木一史、馬場祥行、森山啓司
    • Organizer
      第34回日本口蓋裂学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2010 Annual Research Report

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Published: 2010-08-23   Modified: 2019-07-29  

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