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Mutational analysis of palmoplantar keratoderma caused by keratin 6c mutation

Research Project

Project/Area Number 25860929
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionHirosaki University

Principal Investigator

AKASAKA Eijiro  弘前大学, 医学部附属病院, 助教 (30436034)

Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsケラチン6C / 掌蹠角化症 / 遺伝子 / 変異 / ケラチン6c / ケラチン6c
Outline of Final Research Achievements

The palmoplantar keratodermas (PPKs) are a large group of genodermatoses characterized by hyperkeratosis on the palms and soles. Recently, mutations of KRT6C , coding keratin 6c, have been identified in families with focal PPK. We previously reported a first Japanese PPKs pedigree harboring a novel KRT6C mutation. The aim of this study was to analyze the differences of clinical manifestations between PPKs with KRT6C mutations and other PPKs, to elucidate the pathogenicity of PPKs, and to establish a novel therapy of PPKs. In this study, we revealed that KRT6C mutations generally can cause focal PPK, exceptionally diffuse PPK, without nail lesions or ectodermal abnormality. However, KRT6C mutations were detected only 5 PPKs cases so far. Further accumulation of PPKs cases is necessary to clarify how keratin 6c mutation induce focal PPK. In addition, we have to continue to make an effort to establish PPKs model mice which have a KRT6C mutation to develop novel therapy for PPKs.

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 (4 results) (of which Peer Reviewed: 4 results,  Open Access: 3 results) Presentation (10 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] 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] Mutational analysis on 16 Japanese population cases with epidermolysis bullosasimplex2013

    • Author(s)
      Minakawa S, Nakano H, Nakajima K, Matsuzaki Y, Takiyoshi N, Akasaka E, Rokunohe D, Sawamura D
    • Journal Title

      J Dermatol Sci

      Volume: 72(3) Issue: 3 Pages: 330-332

    • DOI

      10.1016/j.jdermsci.2013.08.001

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] Mutational analysis of 133 Japanese pedigrees of dystrophic epidermolysis bullosa2014

    • Author(s)
      Akasaka E, Nakano H, Sawamura D
    • Organizer
      3rd Eastern Asia Dermatology Congress
    • Place of Presentation
      Jeju, Korea (済州島、韓国)
    • Year and Date
      2014-09-24 – 2014-09-26
    • Related Report
      2014 Annual Research Report
  • [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] 栄養障害型表皮水疱症133家系のCOL7A1遺伝子変異解析2014

    • Author(s)
      赤坂英二郎、中野 創、鷹木由里子、豊巻由香、中野あおい、玉井克人、野村和夫、三橋善比古、橋本 功、澤村大輔
    • Organizer
      第113回日本皮膚科学会総会
    • Place of Presentation
      国立京都国際会館(京都)
    • Year and Date
      2014-05-30 – 2014-06-01
    • 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)
      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)
    • Year and Date
      2014-05-25
    • Related Report
      2014 Annual Research Report
  • [Presentation] 末梢血単核球におけるVII型コラーゲンのmRNA発現について2013

    • Author(s)
      赤坂英二郎、中野 創、高橋育子、鷹木由里子、豊巻由香、澤村大輔
    • Organizer
      第20回分子皮膚科学フォーラム
    • Place of Presentation
      浅草ビューホテル
    • Related Report
      2013 Research-status Report
  • [Presentation] 多発する稗粒腫を主症状とした優性栄養障害型表皮水疱症2013

    • Author(s)
      赤坂英二郎、中野 創、鷹木由里子、豊巻由香、澤村大輔、中野あおい、玉井克人、野村和夫、三橋善比古、橋本 功
    • Organizer
      第35回水疱症研究会
    • Place of Presentation
      大分県労働福祉会館ソレイユ
    • Related Report
      2013 Research-status Report
  • [Presentation] 点状掌蹠角化症の2家系例

    • Author(s)
      赤坂英二郎、中野 創、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
  • [Presentation] 表皮水疱症の遺伝子診断~優性栄養障害型表皮水疱症について~

    • Author(s)
      赤坂英二郎、中野 創、鷹木由里子、豊巻由香、澤村大輔、中野あおい、玉井克人、野村和夫、三橋善比古、橋本 功
    • Organizer
      日本皮膚科学会青森地方会第363回例会
    • Place of Presentation
      八戸パークホテル
    • Related Report
      2013 Research-status Report
  • [Presentation] 表皮水疱症の遺伝子診断~劣性栄養障害型表皮水疱症について~

    • Author(s)
      赤坂英二郎、中野 創、鷹木由里子、豊巻由香、澤村大輔、中野あおい、玉井克人、野村和夫、三橋善比古、橋本 功
    • Organizer
      日本皮膚科学会青森地方会第364回例会
    • Place of Presentation
      弘前大学医学部コミュニケーションセンター
    • Related Report
      2013 Research-status Report
  • [Presentation] 唾液由来DNAを用いてPPOX遺伝子変異を同定した異型ポルフィリン症のカンボジア人1家系例

    • Author(s)
      赤坂英二郎,豊巻由香,澤村大輔,中野 創
    • Organizer
      第3回光皮膚科学研究会
    • Place of Presentation
      神戸国際会議場
    • Related Report
      2013 Research-status Report

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

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