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Dysregulation of hedgehog signaling and tumorigenesis

Research Project

Project/Area Number 23501269
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Tumor biology
Research InstitutionKitasato University

Principal Investigator

MIYASHITA Toshiyuki  北里大学, 医学部, 教授 (60174182)

Co-Investigator(Renkei-kenkyūsha) KAMEYAMA Kohzoh  北里大学, 医学部, 講師 (40214556)
NAGAO Kazuaki  北里大学, 医学部, 助教 (60392487)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords母斑基底細胞癌症候群 / PTCH1 / 癌抑制遺伝子 / 歯原性腫瘍
Research Abstract

In order to investigate the molecular mechanism of tumor formation in NBCCS patients, we analyzed gene mutations in 10 cases of KCOT, 2 cases of meningioma and 1 case each of medulloblastoma and ovarian leiomyoma. As a result, 1 sample each of meningioma, medulloblastoma and ovarian leiomyoma had a pathogenic somatic mutation (2nd hit), whereas only one out of ten KCOT samples carried a possible pathogenic mutation.
Therefore, KCOT is suggested to arise through a mechanism distinct from that for other tumors.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (47 results)

All 2014 2013 2012 2011 Other

All Journal Article (23 results) (of which Peer Reviewed: 22 results) Presentation (18 results) Book (2 results) Remarks (4 results)

  • [Journal Article] Downregulation of microRNA-431 by human interferon-β inhibits viability of medulloblastoma and glioblastoma cells via upregulation of SOCS62014

    • Author(s)
      Tanaka.T., Arai, M., Jiang, X., Sugaya, S., Kanda, T., Fujii, K., Kita, K., Sugita, K., Imazeki, F., Miyashita, T., Kaneda, A., and Yokosuka, O
    • Journal Title

      Int. J. Oncol

      Volume: 44 Issue: 5 Pages: 1685-1690

    • DOI

      10.3892/ijo.2014.2317

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Downregulation of microRNA-431 by human interferon-β inhibits viability of medulloblastoma and glioblastoma cells via upregulation of SOCS6.2014

    • Author(s)
      Tanaka.T., Arai, M., Jiang, X., Sugaya, S., Kanda, T., Fujii, K., Kita, K., Sugita, K., Imazeki, F., Miyashita, T., Kaneda, A., and Yokosuka, O.
    • Journal Title

      Int. J. Oncol.

      Volume: 44 Pages: 1685-1690

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome2013

    • Author(s)
      Fujii. K., Ohashi, H. ,Suzuki, M., Hatsuse, H., Shiohama, T., Uchikawa, H., and Miyashita, T
    • Journal Title

      Fam. Cancer

      Volume: 12 Pages: 611-614

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Falx cerebri calcification and microphthalmia in Gorlin syndrome2013

    • Author(s)
      Fujita Y., Fujita T., Fujii, K., and Miyashita, T
    • Journal Title

      Neurol. Clin. Neurosci

      Volume: 1 Pages: 88-89

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome2013

    • Author(s)
      Suzuki, M., Nagao, K., Hatsuse, H., Sasaki, R., Saito, K., Fujii, K., and Miyashita, T
    • Journal Title

      Oral Surg. Oral Med. Oral Pathol. Oral Radiol

      Volume: 116 Pages: 348-353

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Role of FK506 binding protein 5 (FKBP5) in osteoclast differentiation.2013

    • Author(s)
      Kimura, M., Nagai, T., Matsushita. R., Hashimoto. A., Miyashita. T., and Hirohata. S.
    • Journal Title

      Mod. Rheumatol.

      Volume: 23 Pages: 1133-1139

    • DOI

      10.1007/s10165-012-0809-4

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.2013

    • Author(s)
      Fujii. K., Ohashi, H. ,Suzuki, M., Hatsuse, H., Shiohama, T., Uchikawa, H., and Miyashita, T.
    • Journal Title

      Fam. Cancer

      Volume: 12 Issue: 4 Pages: 611-614

    • DOI

      10.1007/s10689-013-9623-1

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Falx cerebri calcification and microphthalmia in Gorlin syndrome.2013

    • Author(s)
      Fujita Y., Fujita T., Fujii, K., and Miyashita, T.
    • Journal Title

      Neurol. Clin. Neurosci.

      Volume: 1 Pages: 88-89

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome.2013

    • Author(s)
      Suzuki, M.,Nagao, K., Hatsuse, H., Sasaki, R., Saito, K., Fujii, K., Miyashita, T.
    • Journal Title

      Oral Surg. Oral Med. Oral Pathol. Oral Radiol.

      Volume: 116 Issue: 3 Pages: 348-353

    • DOI

      10.1016/j.oooo.2013.06.017

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation2012

    • Author(s)
      Kijima C., Miyashita T., Suzuki M., Oka H., and Fujii K
    • Journal Title

      Fam. Cancer

      Volume: 11 Pages: 565-570

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome2012

    • Author(s)
      Suzuki, M., Hatsuse, H., Nagao, K., Takayama, Y., Kameyama, K., Kabasawa, Y., Omura, K., Yoshida, M., Fujii, K., and Miyashita, T
    • Journal Title

      J. Hum. Genet

      Volume: 57 Pages: 422-426

    • NAID

      10030965596

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Heterozygous Tandem Duplication Within the PTCH1 Gene Results in Nevoid Basal Cell Carcinoma Syndrome2012

    • Author(s)
      Kosaki, R., Nagao, K., Kameyama, K., Suzuki, M., Fujii, K., and Miyashita T
    • Journal Title

      Am. J. Med. Genet A

      Volume: 158A Pages: 1724-1728

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Splicing aberration in nevoid basal cell nevus syndrome2012

    • Author(s)
      Ishitsuka, Y., Furuta, J., Miyashita, T., and Otsuka, F
    • Journal Title

      Acta Derm. Venereol

      Volume: 92 Pages: 619-620

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma2012

    • Author(s)
      Endo, M., Fujii, K., Sugita, K., Saito, K., Kohno, Y., and Miyashita, T
    • Journal Title

      Am. J. Med. Genet A

      Volume: 158A Pages: 351-357

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Splicing aberration in nevoid basal cell nevus syndrome2012

    • Author(s)
      Ishitsuka, Y., Furuta, J., Miyashita, T.
    • Journal Title

      Acta Derm. Venereol.

      Volume: 92 Issue: 6 Pages: 619-620

    • DOI

      10.2340/00015555-1332

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Heterozygous Tandem Duplication Within the PTCH1 Gene Results in Nevoid Basal Cell Carcinoma Syndrome2012

    • Author(s)
      Kosaki, R., Nagao, K., Kameyama, K., Suzuki, M., Fujii, K., and Miyashita T.
    • Journal Title

      Am. J. Med. Genet. A

      Volume: 158A Issue: 7 Pages: 1724-1728

    • DOI

      10.1002/ajmg.a.35412

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome2012

    • Author(s)
      Suzuki, M., Hatsuse, H., Nagao, K., Takayama, Y., Kameyama, K., Kabasawa, Y., Omura, K., Yoshida, M., Fujii, K., and Miyashita, T.
    • Journal Title

      J. Hum. Genet.

      Volume: 57 Issue: 7 Pages: 422-426

    • DOI

      10.1038/jhg.2012.45

    • NAID

      10030965596

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] RCAN1 is an important mediator of glucocorticoid-induced apoptosis in human leukemic cells2012

    • Author(s)
      Nagao, K., Iwai Y., and Miyashita T.
    • Journal Title

      PLOS ONE

      Volume: 7 Issue: 11 Pages: e49926-e49926

    • DOI

      10.1371/journal.pone.0049926

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing low frequency of basal cell carcinoma2012

    • Author(s)
      Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T
    • Journal Title

      Am J Med Genet A

      Volume: 158A Issue: 2 Pages: 351-7

    • DOI

      10.1002/ajmg.a.34421

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma2012

    • Author(s)
      Endo, M., Fujii, K., Sugita, K., Saito, K., Kohno, Y., and Miyashita, T.
    • Journal Title

      American Journal of Medical Genetics A

      Volume: 158A Pages: 351-357

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan2011

    • Author(s)
      Nagao, K., Fujii, K., Saito, K., Sugita, K., Endo, M., Motojima, T., Hatsuse, H. and Miyashita, T
    • Journal Title

      Clin. Genet

      Volume: 79 Pages: 196-198

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan2011

    • Author(s)
      Nagao, K., Fujii, K., Saito, K., Sugita, K., Endo, M., Motojima, T., Hatsuse, H. and Miyashita, T.
    • Journal Title

      Clinical Genetics

      Volume: 79 Issue: 2 Pages: 196-198

    • DOI

      10.1111/j.1399-0004.2010.01527.x

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] 見逃してはいけない家族性腫瘍:本邦における母斑基底細胞癌症候群の遺伝子変異と臨床的特徴2011

    • Author(s)
      宮下俊之、桐生麻衣子、齋藤加代子、杉田克生、遠藤真美子、藤井克則
    • Journal Title

      家族性腫瘍

      Volume: 11 Pages: 14-18

    • NAID

      130007529694

    • Related Report
      2011 Research-status Report
  • [Presentation] Functional analysis of a sonic hedgehog signaling pathway inhibitor SUFU2013

    • Author(s)
      長尾和右、宮下俊之
    • Organizer
      第72回日本癌学会学術総会
    • Place of Presentation
      横浜
    • Related Report
      2013 Annual Research Report 2013 Final Research Report
  • [Presentation] 母斑基底細胞癌症候群で見出されたスプライシング変異と異常mRNA の分解2012

    • Author(s)
      志村将人、鈴木麻衣子、初瀬洋美、長尾和右、高山吉永、亀山孝三、藤井克則、宮下俊之
    • Organizer
      第35回日本分子生物学会年会
    • Place of Presentation
      福岡
    • Related Report
      2013 Final Research Report
  • [Presentation] PTCH2とSUFU 遺伝子に配偶子変異をもつ母斑基底細胞癌症候群の検討2012

    • Author(s)
      鈴木麻衣子、長尾和右、高山吉永、岡秀宏、藤井克則、宮下俊之
    • Organizer
      第71回日本癌学会学術総会
    • Place of Presentation
      札幌
    • Related Report
      2013 Final Research Report
  • [Presentation] Suppressor of fused (SUFU)遺伝子の配偶子変異は高い髄芽腫の発症リスクをもたらす2012

    • Author(s)
      鈴木麻衣子、宮下俊之、木島千尋、岡秀宏、藤井清孝
    • Organizer
      第16回日本家族性腫瘍学会学術集会
    • Place of Presentation
      大阪
    • Related Report
      2013 Final Research Report 2012 Research-status Report
  • [Presentation] PTCH2とSUFU遺伝子に配偶子変異をもつ母斑基底細胞癌症候群の検討2012

    • Author(s)
      鈴木麻衣子、長尾和右、高山吉永、岡秀宏、藤井克則、宮下俊之
    • Organizer
      第71回日本癌学会学術総会
    • Place of Presentation
      札幌
    • Related Report
      2012 Research-status Report
  • [Presentation] 母斑基底細胞癌症候群で見出されたスプライシング変異と異常mRNAの分解2012

    • Author(s)
      志村将人、鈴木麻衣子、初瀬洋美、長尾和右、高山吉永、亀山孝三、藤井克則、宮下俊之
    • Organizer
      第35回日本分子生物学会年会
    • Place of Presentation
      福岡
    • Related Report
      2012 Research-status Report
  • [Presentation] Gorlin症候群の遺伝子解析2012

    • Author(s)
      宮下俊之
    • Organizer
      厚生労働科学研究費補助金 難治性疾患克服研究事業(招待講演)
    • Place of Presentation
      神戸
    • Related Report
      2011 Research-status Report
  • [Presentation] 母斑基底細胞癌症候群の分子遺伝学2011

    • Author(s)
      宮下俊之
    • Organizer
      第56回日本人類遺伝学会・第11回東アジア人類遺伝学会共同大会
    • Place of Presentation
      千葉
    • Related Report
      2013 Final Research Report
  • [Presentation] 日本における母斑性基底細胞癌症候群における基底細胞癌発症率2011

    • Author(s)
      藤井克則、宮下俊之
    • Organizer
      第70回日本癌学会学術総会
    • Place of Presentation
      名古屋
    • Related Report
      2013 Final Research Report 2011 Research-status Report
  • [Presentation] 母斑基底細胞癌症候群に発症した歯原性腫瘍の遺伝子解析2011

    • Author(s)
      宮下俊之、桐生麻衣子、佐々木亮、齋藤加代子、藤井克則
    • Organizer
      遺伝医学合同学術集会
    • Place of Presentation
      京都
    • Related Report
      2013 Final Research Report
  • [Presentation] 母斑基底細胞癌症候群に発症した歯原性腫瘍の遺伝子解析2011

    • Author(s)
      宮下俊之、桐生麻衣子、佐々木亮、齋藤加代子、藤井克則
    • Organizer
      家族性腫瘍学会
    • Place of Presentation
      京都
    • Related Report
      2011 Research-status Report
  • [Presentation] 母斑基底細胞癌症候群に発症する角化嚢胞性歯原性腫瘍の腫瘍化機序の解析2011

    • Author(s)
      鈴木麻衣子、長尾和右、高山吉永、藤井克則、宮下俊之
    • Organizer
      第70回日本癌学会学術総会
    • Place of Presentation
      名古屋
    • Related Report
      2011 Research-status Report
  • [Presentation] 母斑基底細胞癌症候群に発症した角化嚢胞性歯原性腫瘍の発症機序の解析2011

    • Author(s)
      鈴木麻衣子、長尾和右、高山吉永、亀山孝三、藤井克則、宮下俊之
    • Organizer
      第34回日本分子生物学会年会
    • Place of Presentation
      横浜
    • Related Report
      2011 Research-status Report
  • [Presentation] 母斑基底細胞癌症候群の分子遺伝学2011

    • Author(s)
      宮下俊之
    • Organizer
      第56回日本人類遺伝学会(招待講演)
    • Place of Presentation
      千葉
    • Related Report
      2011 Research-status Report
  • [Presentation] PTCH1遺伝子以外の遺伝子変異によって発症する母斑基底細胞癌症候群 ―多遺伝子1症候群?―

    • Author(s)
      宮下俊之、鈴木麻衣子、長尾和右、初瀬弘美、藤井克則
    • Organizer
      第17回日本家族性腫瘍学会学術集会
    • Place of Presentation
      別府
    • Related Report
      2013 Annual Research Report
  • [Presentation] グルココルチコイド誘導性アポトーシスの解析

    • Author(s)
      岩井祐二郎、高山吉永、亀山孝三、初瀬洋美、長尾和右、宮下俊之
    • Organizer
      第26回北里大学バイオサイエンスフォーラム
    • Place of Presentation
      相模原
    • Related Report
      2013 Annual Research Report
  • [Presentation] Gorlin症候群におけるPTCH2変異の同定

    • Author(s)
      藤井克則、大橋博文、内川英紀、塩浜直、宮下俊之
    • Organizer
      第25回千葉県小児神経懇話会
    • Place of Presentation
      千葉
    • Related Report
      2013 Annual Research Report
  • [Presentation] CRISPR/Cas9システムを用いたヘッジホッグシグナル伝達系構成遺伝子ノックアウト細胞株の作製

    • Author(s)
      長尾和右、遠藤葉月、加藤千勢、初瀬洋美、高山吉永、亀山孝三、宮下俊之
    • Organizer
      第36回日本分子生物学会年会
    • Place of Presentation
      神戸
    • Related Report
      2013 Annual Research Report
  • [Book] 希少疾患/難病 の診断・治療と製品開発2012

    • Author(s)
      藤井 克則、宮下 俊之
    • Total Pages
      1270
    • Publisher
      技術情報協会
    • Related Report
      2012 Research-status Report
  • [Book] Human SOS Biological Science2012

    • Author(s)
      Fujii, K., Suzuki, N., Uchikawa, H., Sugita, K., and Miyashita, T
    • Total Pages
      121
    • Publisher
      Transworld Research Network
    • Related Report
      2012 Research-status Report
  • [Remarks] ホームページ等

    • URL

      http://www.med.kitasato-u.ac.jp/~molgen/

    • Related Report
      2013 Final Research Report
  • [Remarks] 北里大学医学部分子遺伝学

    • URL

      http://www.med.kitasato-u.ac.jp/~molgen/

    • Related Report
      2013 Annual Research Report
  • [Remarks] 北里大学分子遺伝

    • URL

      http://www.med.kitasato-u.ac.jp/~molgen/index.html

    • Related Report
      2012 Research-status Report
  • [Remarks]

    • URL

      http://www.med.kitasato-u.ac.jp/~molgen/index.html

    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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