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Analysis of molecular mechanisms switching from TRPV3 gene abnormalities to palmoplantar keratoderma.

Research Project

Project/Area Number 25670497
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionHirosaki University

Principal Investigator

SAWAMURA Daisuke  弘前大学, 医学(系)研究科(研究院), 教授 (60196334)

Co-Investigator(Kenkyū-buntansha) AIZU Takayuki  弘前大学, 大学院医学研究科, 助教 (00400135)
NAKAJIMA Koji  弘前大学, 大学院医学研究科, 助教 (70374832)
Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2014: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
Fiscal Year 2013: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Keywords遺伝子 / 角化 / 掌蹠 / 温度 / 表皮細胞
Outline of Final Research Achievements

There are many types of hereditary palmoplantar keratoderma, but causative genes and mechanisms of hyperkeratosis of some types of disease have not been elucidated yet. Recently, our group study hereditary palmoplantar keratoderma extensively. Olmsted syndrome is rare genodermatodes and shows alopecia, periorificial keratoderma and severe itching. The gain-of-function mutation in the gene of TRPV3, which is a Ca2+ channel, is found to cause Olmsted syndrome recently. In this study, we clarify causative mutations in several similar hereditary palmoplantar keratodermas and compare hyperkeratosis mechanisms in Olmsted syndrome and the other palmoplantar keratodermas. Furthermore, we examined model rat of Olmsted syndrome which has the gain-of-function mutation in the gene of TRPV3.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (14 results)

All 2015 2014 2013 Other

All Journal Article (11 results) (of which Peer Reviewed: 11 results,  Open Access: 9 results,  Acknowledgement Compliant: 1 results) Presentation (3 results)

  • [Journal Article] Anti-laminin γ1 pemphigoid associated with ulcerative colitis and psoriasis vulgaris showing autoantibodies to laminin γ1, type XVII collagen and laminin-332.2015

    • Author(s)
      Akasaka E, Nakano H, Korekawa A, Fukui T, Kaneko T, Koga H, Hashimoto T, Sawamura D.
    • Journal Title

      Eur J Dermatol

      Volume: 26 Issue: 2 Pages: 198-199

    • DOI

      10.1684/ejd.2014.2499

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.2015

    • Author(s)
      Akasaka E, Okawa Y, Nakano H, Takiyoshi N, Rokunohe D, Toyomaki Y, Sawamura D, Sueki H.
    • Journal Title

      J Dermatol Sci

      Volume: 78 Issue: 2 Pages: 156-158

    • DOI

      10.1016/j.jdermsci.2015.02.004

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Severe scoliosis associated with the WNT10A mutation.2015

    • Author(s)
      Koguchi-Yoshioka H, Wataya-Kaneda M, Nakano H, Tanemura A, Akasaka E, Sawamura D, Katayama I.
    • Journal Title

      J Dermatol

      Volume: 42 Issue: 3 Pages: 322-323

    • DOI

      10.1111/1346-8138.12762

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Atopic diathesis in hypohidrotic/anhidrotic ectodermal dysplasi2014

    • Author(s)
      Hanako Koguchi-Yoshioka1, Mari Wataya-Kaneda1#, Mizuki Yutani1, Hiroyuki Murota1, Hajime Nakano2, Daisuke Sawamura2, Ichiro Katayam
    • Journal Title

      Acta Derm Venereol.

      Volume: ? Issue: 4 Pages: 476-479

    • DOI

      10.2340/00015555-1978

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A palindromic motif in the -2084 to -2078 upstream region is essential for ABCA12 promoter function in cultured human keratinocytes2014

    • Author(s)
      Shimizu Y, Ogawa Y, Sugiura K, Takeda J, Sakai-Sawada K, Yanagi T, Kon A, Sawamura D, Shimizu H, Akiyama M
    • Journal Title

      Sci Rep

      Volume: 4 Issue: 1 Pages: 6737-6737

    • DOI

      10.1038/srep06737

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Novel missense mutation of COL7A1 in a recessive dystrophic epidermolysis bullosa patient with mild clinical phenotype.2014

    • Author(s)
      Yoshihara N, Nakano H, Sawamura D, Ikeda S.
    • Journal Title

      J Dermatol

      Volume: 41 Issue: 10 Pages: 939-940

    • DOI

      10.1111/1346-8138.12621

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Case of oculocutaneous albinism complicated with squamous cell carcinoma, Bowen's disease and actinic keratosis.2014

    • Author(s)
      Minakawa S, Kaneko T, Matsuzaki Y, Akasaka E, Mizukami H, Abe Y, Hozumi Y,
    • Journal Title

      J Dermatol.

      Volume: 41 Issue: 9 Pages: 863-864

    • DOI

      10.1111/1346-8138.12597

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Functional analysis of the nuclear localization signal of the POU transcription factor Skn-1a in epidermal keratinocytes.2014

    • Author(s)
      Moritsugu R, Tamai K, Nakano H, Aizu T, Nakajima K, Yamazaki T, Sawamura D.
    • Journal Title

      Int J Mol Med.

      Volume: 34 Issue: 2 Pages: 539-544

    • DOI

      10.3892/ijmm.2014.1803

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A new EDA gene mutation in a family of X-linked hypohidrotic ectodermal dysplasia.2014

    • Author(s)
      Ohashi M, Moriya C, Tanahashi K, Nakano H, Sawamura D, Seishima M.
    • Journal Title

      J Dermatol Sci

      Volume: 74 Issue: 2 Pages: 175-177

    • DOI

      10.1016/j.jdermsci.2014.01.003

    • Related Report
      2014 Annual Research Report 2013 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Pachyonychia congenita in Japan: report of familial cases with a recurrent KRT16 mutation.2014

    • Author(s)
      Inaba Y, Kanazawa N, Furukawa F, Sakurane Y, Nakano H, Sawamura D, Yoneda K,Hamada T, Hashimoto T.
    • Journal Title

      Eur J Dermatol

      Volume: 24 Issue: 1 Pages: 122-123

    • DOI

      10.1684/ejd.2013.2244

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Congenital insensitivity to pain with anhidrosis presenting with palmoplantarkeratoderma2013

    • Author(s)
      Sayyahfar S, Chavoshzadeh Z, Khaledi M, Madadi F, Yeganeh MH, Sawamura D, Nakano H, Rezaei N
    • Journal Title

      PediatrDermatol

      Volume: 30(6) Issue: 6 Pages: 754-756

    • DOI

      10.1111/j.1525-1470.2012.01833.x

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] 長島型掌蹠角化症型の遺伝子診断2014

    • Author(s)
      櫻庭裕佑、赤坂英二郎、六戸大樹、中野創、澤村大輔
    • Organizer
      第29回角化症研究会
    • Place of Presentation
      東京商工会議所(東京)
    • Year and Date
      2014-08-02
    • Related Report
      2014 Annual Research Report
  • [Presentation] SERPINB7変異を同定した長島型掌蹠角化症の1例2014

    • Author(s)
      1.赤坂英二郎,鷹木由里子,豊巻由香,中野 創,澤村大輔,矢口 直
    • Organizer
      日本皮膚科学会青森地方会第366回例会
    • Place of Presentation
      ホテルニューキャッスル(弘前市)
    • Year and Date
      2014-05-25
    • Related Report
      2014 Annual Research Report
  • [Presentation] 点状掌蹠角化症の1家系例

    • Author(s)
      赤坂英二郎、中野 創、滝吉典子、澤村大輔
    • Organizer
      第28回角化症研究会
    • Place of Presentation
      東京商工会議所
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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