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Analysis of a novel factor associated with short stature and application to therapy

Research Project

Project/Area Number 26670494
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionThe University of Tokyo

Principal Investigator

Kitanaka Sachiko  東京大学, 医学部附属病院, 准教授 (30431638)

Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords低身長 / モデル動物 / 発症機序
Outline of Final Research Achievements

Short stature is one of the most common symptoms in pediatric endocrine diseases. We recently found a novel factor responsible for a disease presenting with extreme short stature. In this study, we analyzed the mechanism of this factor related to bone growth. We overexpressed this factor in a cultured cell line and evaluated the cell growth, cell differentiation, and marker proteins. We found that this factor had a repressive effect on chondrocyte growth and differentiation. The repressive effect was increased in the mutants. Furthermore, we have created model animals to investigate the function of this factor in vivo.

Report

(4 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (29 results)

All 2017 2016 2015 2014 2013

All Journal Article (13 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 8 results,  Open Access: 5 results,  Acknowledgement Compliant: 4 results) Presentation (12 results) Book (4 results)

  • [Journal Article] Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.2017

    • Author(s)
      Harita Y, Kitanaka S, Isojima T, Ashida A, Hattori M
    • Journal Title

      Pediatr Nephrol

      Volume: 印刷中

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Partial monosomy of 10p and duplication of another chromosome in two patients2017

    • Author(s)
      Ohta S, Isojima T, Mizuno Y, Kato M, Mimaki M, Seki M, Sato Y, Ogawa S, Takita J, Kitanaka S, Oka A.
    • Journal Title

      Pediatr Int.

      Volume: 59 Issue: 1 Pages: 99

    • DOI

      10.1111/ped.13181

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] nail-patella症候群(爪膝蓋骨症候群)2016

    • Author(s)
      北中幸子、張田豊
    • Journal Title

      小児科診療

      Volume: 79増 Pages: 309-309

    • Related Report
      2016 Annual Research Report
  • [Journal Article] カルシウムを多く摂取すると身長が伸びる?2016

    • Author(s)
      北中幸子
    • Journal Title

      小児内科

      Volume: 48 Pages: 918-919

    • Related Report
      2016 Annual Research Report
  • [Journal Article] ビタミンD依存性くる病/骨軟化症2016

    • Author(s)
      北中幸子
    • Journal Title

      最新医学

      Volume: 72 Pages: 1943-1948

    • Related Report
      2016 Annual Research Report
  • [Journal Article] ビタミンD依存症の病因と治療2016

    • Author(s)
      北中幸子
    • Journal Title

      Clinical Calcium

      Volume: 26 Pages: 277-283

    • Related Report
      2016 Annual Research Report
  • [Journal Article] Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance.2015

    • Author(s)
      Isojima T, Ishizawa M, Yoshimura K, Tamura M, Hirose S, Makishima M, Kitanaka S.
    • Journal Title

      Bone Reports

      Volume: 2 Pages: 68-73

    • DOI

      10.1016/j.bonr.2015.05.001

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Detection of hereditary 1,25-hydroxyvitamin D-resistant rickets caused by uniparental disomy of chromosome 12 using genome-wide single nucleotide polymorphism array.2015

    • Author(s)
      Tamura M, Isojima T, Kawashima M, Yoshida H, Yamamoto K, Kitaoka T, Namba N, Oka A, Ozono K, Tokunaga K, Kitanaka S
    • Journal Title

      PLoS One

      Volume: 10 Issue: 7 Pages: e0131157-e0131157

    • DOI

      10.1371/journal.pone.0131157

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Mineral status of premature infants in early life and linear growth at age three.2015

    • Author(s)
      Isojima T, Kushima R, Goishi K, Tsuchida S, Watanabe T, Takahashi N, Kitanaka S
    • Journal Title

      Pediatr Int

      Volume: 57 Issue: 5 Pages: 864-9

    • DOI

      10.1111/ped.12657

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Successful intermittent intravenous calcium treatment via the peripheral route in a patient with hereditary vitamin D-resistant rickets and alopecia.2015

    • Author(s)
      Ersoy B, Kiremitci S, Isojima T, Kitanaka S
    • Journal Title

      Horm Res Paediatr.

      Volume: 83 Issue: 1 Pages: 67-72

    • DOI

      10.1159/000367711

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Kenny Caffey症候群と類縁疾患2015

    • Author(s)
      磯島豪、北中幸子
    • Journal Title

      日本臨床

      Volume: 73 Pages: 1959-1964

    • Related Report
      2015 Research-status Report
  • [Journal Article] LMX1B Mutation with Residual Transcriptional Activity as a Cause of Isolated Glomerulopathy.2014

    • Author(s)
      Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S
    • Journal Title

      Nephrol Dial Transplant

      Volume: 29 Issue: 1 Pages: 81-8

    • DOI

      10.1093/ndt/gft359

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] A recurrent de novo FAM111A mutation causes Kenny–Caffey syndrome type 2.2013

    • Author(s)
      Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, and Kitanaka S.
    • Journal Title

      J Bone Mineral Res

      Volume: 29 Issue: 4 Pages: 992-998

    • DOI

      10.1002/jbmr.2091

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] Analysis of COL10A1 gene is useful to detect metaphyseal chondrodysplasia Schmid type for the differential diagnosis of bow-legs.2016

    • Author(s)
      Hiroyuki Tanaka, Mayuko Tamura, Chie Takahashi, Tsuyoshi Isojima, Nobuhiko Haga, Akira Oka, Sachiko Kitanaka.
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      国際フォーラム(東京都中央区)
    • Year and Date
      2016-11-17
    • Related Report
      2016 Annual Research Report
  • [Presentation] A case with duplication of 20qter and deletion of 20pter due to maternal pericentric inversion, presenting with Silver-Russell syndrome-like phenotypes.2016

    • Author(s)
      Chie Takahashi, Akie Nakamura, Mayuko Tamura, Hiroyuki Tanaka, Tsuyoshi Isojima, Akira Oka, Masayo Kagami, Sachiko Kitanaka.
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      国際フォーラム(東京都中央区)
    • Year and Date
      2016-11-17
    • Related Report
      2016 Annual Research Report
  • [Presentation] rFSH monotherapy prior to hCG-rFSH combination therapy is an effective new treatment to achieving future fertility in adolescent patients with congenital male hypogonadotropic hypogonadism.2016

    • Author(s)
      Sato N, Hosokawa A, Kitanaka S, Yoshizawa A, Noda M, Tanaka T
    • Organizer
      The 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society
    • Place of Presentation
      国際フォーラム(東京都中央区)
    • Year and Date
      2016-11-17
    • Related Report
      2016 Annual Research Report
  • [Presentation] レセプトデータによる小児ビタミンD欠乏性くる病有病率の10年間の推移2016

    • Author(s)
      伊藤明子、冨尾淳、田村麻由子、磯島豪、小林廉毅、北中幸子
    • Organizer
      第89回日本内分泌学会
    • Place of Presentation
      京都国際会議場(京都府京都市)
    • Year and Date
      2016-04-21
    • Related Report
      2016 Annual Research Report
  • [Presentation] 禿頭をきたすビタミンD受容体遺伝子の新規変異の機能解析2015

    • Author(s)
      田村麻由子、石澤通康、磯島豪、岡明、槇島誠、北中幸子
    • Organizer
      第49回日本小児内分泌学会学術集会
    • Place of Presentation
      タワーホール船堀(東京都江戸川区)
    • Year and Date
      2015-10-08
    • Related Report
      2015 Research-status Report
  • [Presentation] くる病・ビタミンD欠乏症90例における遺伝子診断をもとにした病型別臨床所見2015

    • Author(s)
      北中幸子、田村麻由子、磯島豪
    • Organizer
      第88回日本内分泌学会学術総会
    • Place of Presentation
      ニューオータニ(東京都港区)
    • Year and Date
      2015-04-23
    • Related Report
      2015 Research-status Report
  • [Presentation] ビタミンD依存性くる病2型の7家系におけるビタミンD受容体遺伝子の3種類の新規変異とその機能解析2015

    • Author(s)
      田村麻由子、磯島豪、北中幸子
    • Organizer
      第88回日本内分泌学会学術総会
    • Place of Presentation
      ニューオータニ(東京都港区)
    • Year and Date
      2015-04-23
    • Related Report
      2015 Research-status Report
  • [Presentation] 性分化疾患から早期診断しコレステロール治療を行ったSmith-Lemli-Opitz症候群の1例2015

    • Author(s)
      152.田村 麻由子、真船 亮、安戸 裕貴、下田 木の実、磯島 豪、笠間 健嗣、高橋 尚人、北中 幸子、岡 明
    • 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(大阪府大阪市)
    • Year and Date
      2015-04-17
    • Related Report
      2015 Research-status Report
  • [Presentation] Y染色体長腕欠失とKabuki症候群2014

    • Author(s)
      北中幸子、田村麻由子、磯島豪、石井礼花、岡明、三宅紀子、松本直通、永井敏郎
    • Organizer
      第59回日本人類遺伝学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2014-11-20 – 2014-11-22
    • Related Report
      2014 Research-status Report
  • [Presentation] くる病・ビタミンD欠乏症88例の臨床的検討2014

    • Author(s)
      北中幸子、田村麻由子、磯島豪
    • Organizer
      第48回日本小児内分泌学会学術集会
    • Place of Presentation
      静岡
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Research-status Report
  • [Presentation] ビタミンD受容体遺伝子解析で3種類の新規変異を認めたビタミンD依存性くる病2型の7家系2014

    • Author(s)
      田村麻由子、磯島豪、北中幸子
    • Organizer
      第48回日本小児内分泌学会学術集会
    • Place of Presentation
      静岡
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Research-status Report
  • [Presentation] 染色体Gバンド分析で見いだせなかった不均衡転座をSNPアレイにより同定した10p-症候群の1例2014

    • Author(s)
      磯島豪、田村麻由子、太田さやか、加藤元博、三牧正和、滝田順子、北中幸子、岡明
    • Organizer
      第48回日本小児内分泌学会学術集会
    • Place of Presentation
      静岡
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Research-status Report
  • [Book] 小児疾患ガイドライン-最新の診療指針第3版2016

    • Author(s)
      北中幸子
    • Total Pages
      670
    • Publisher
      総合医学社
    • Related Report
      2016 Annual Research Report
  • [Book] 難病事典2015

    • Author(s)
      北中幸子
    • Total Pages
      511
    • Publisher
      学研メディカル秀潤社
    • Related Report
      2015 Research-status Report
  • [Book] 今日の治療指針20142014

    • Author(s)
      北中幸子
    • Total Pages
      1900
    • Publisher
      医学書院
    • Related Report
      2014 Research-status Report
  • [Book] 小児科研修医ノート2014

    • Author(s)
      北中幸子
    • Total Pages
      539
    • Publisher
      診断と治療社
    • Related Report
      2014 Research-status Report

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Published: 2014-04-04   Modified: 2019-12-27  

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