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Gene analysis of epidermal gap junction and pathological search for palmoplantar hyperkeratosis associated with hearing impairments

Research Project

Project/Area Number 23659542
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionChiba University

Principal Investigator

KAMBE Naotomo  千葉大学, 大学院・医学研究院, 准教授 (50335254)

Co-Investigator(Kenkyū-buntansha) MATSUE Hiroyuki  千葉大学, 大学院・医学研究院, 教授 (10250424)
Co-Investigator(Renkei-kenkyūsha) KAMADA Noriaki  千葉大学, 大学院・医学研究院, 講師 (00334186)
Project Period (FY) 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2011: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Keywords皮膚病理学 / 角化症 / 皮膚科学 / 遺伝子 / Gap junction / コネキシン
Research Abstract

We have experienced a mother and her son suffering from palmoplantar hyperkeratosis with hearing impairments and also some unrelated patients. Even though they showed clinical symptoms identified to be almost same as the reported cases with mutations within mitochondria DNA or Connexin (Cx) genes coding of gap junctions, we cannot found any mutations in those reported genes. In conventional 2D culture condition of keratinocytes, no significant differences were observed between patient- derived and control cells in proliferation and differentiation. Even in 3D culture system, any impairments in patient- derived cells and significant difference in Cx gene expression were not observed.

Report

(2 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • Research Products

    (4 results)

All 2011

All Journal Article (3 results) (of which Peer Reviewed: 3 results) Presentation (1 results)

  • [Journal Article] Follicular keratosis and bullous formation are typical signs of extragenital lichen sclerosis2011

    • Author(s)
      Kimura A, Kambe N, Satoh T, Togawa Y, Suehiro K, Matsue H
    • Journal Title

      J Dermatol

      Volume: 38 Pages: 834-36

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Dermoscopy of keratosis follicularis squamosa2011

    • Author(s)
      Nakano M, Kambe N, Satoh T, Togawa Y, Kamada N, Matsue H.
    • Journal Title

      Dermatology Reports.

      Volume: 3 Issue: 2 Pages: e26-e26

    • DOI

      10.4081/dr.2011.e26

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Dermoscopy of keratosis follicularis squamosa2011

    • Author(s)
      Nakano M, Kambe N, Satoh T, Togawa Y, Kamada N, Matsue H
    • Journal Title

      Dermatology Reports

      Volume: 3

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Presentation] 限局性掌蹠角化症の1例2011

    • Author(s)
      林郁伶, 神戸直智, 田島綾子, 松江弘之, 高橋健造
    • Organizer
      第26回角化症研究会
    • Place of Presentation
      東京
    • Year and Date
      2011-07-30
    • Related Report
      2011 Annual Research Report 2011 Final Research Report

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

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