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The elucidation of mechanism of hyperkeratosis and development of protein replacement therapy in patients with Mal de Meleda.

Research Project

Project/Area Number 26461653
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Dermatology
Research InstitutionHirosaki University

Principal Investigator

Nakajima Koji  弘前大学, 医学研究科, 助教 (70374832)

Co-Investigator(Kenkyū-buntansha) 赤坂 英二郎  弘前大学, 医学部附属病院, 助教 (30436034)
六戸 大樹  弘前大学, 医学研究科, 助教 (50436036)
Project Period (FY) 2014-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Keywords遺伝子 / 遺伝病 / 皮膚 / 角化 / 治療
Outline of Final Research Achievements

Mal de Meleda is an autosomal recessive palmoplantar keratosis and shows severe transgradient hyperkeratosis. Recently, the causative gene is demonstrated to be the SLURP1 gene. In this study, analysis of the SLURP1 gene in patients with palmoplantar keratosis tried to detect the gene mutations. We cultured keratinocytes and fibroblasts from the patients and examined gene and protein expressions of the SLURP1 gene. Also, we introduced the expression vector of the SLURP1 cDNA to the patient cells and examined the expressions of the gene related with keratinization. These results show in part the mechanisms of hyperkeratosis seen in the patients.

Report

(5 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (17 results)

All 2017 2016 2015 2014

All Journal Article (10 results) (of which Peer Reviewed: 10 results,  Open Access: 10 results) Presentation (7 results)

  • [Journal Article] Multiple milia as an isolated skin manifestation of dominant dystrophic epidermolysis bullosa: Evidence of phenotypic variability.2017

    • Author(s)
      Akasaka E, Nakano H, Takagi Y, Toyomaki Y, Sawamura D
    • Journal Title

      Pediatr Dermatol

      Volume: 34 Issue: 2

    • DOI

      10.1111/pde.13047

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Translucent basal cell carcinoma with a single cyst of the upper eyelid.2017

    • Author(s)
      Korekawa A, Nakajima K, Nakano H, Sawamura D
    • Journal Title

      J Dermatol

      Volume: 44 Issue: 7

    • DOI

      10.1111/1346-8138.13814

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Successful epithelialization of perianal infantile hemangioma, presenting as intractable ulcers, with application of protective colostomy powder.2017

    • Author(s)
      Korekawa A, Nakajima K, Nakano H, Sawamura D
    • Journal Title

      J Dermatol

      Volume: 44 Issue: 10

    • DOI

      10.1111/1346-8138.13938

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] External chalazion as reddish and intractable lower eyelid nodules in a child.2017

    • Author(s)
      Korekawa A, Makita E, Nakajima K, Nakano H, Sawamura D.
    • Journal Title

      J Dermatol

      Volume: - Issue: 5

    • DOI

      10.1111/1346-8138.13650

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Usefulness of ultrasonography in the diagnosis of ischaemic fasciitis.2016

    • Author(s)
      Kaneko T, Rokunohe D, Takiyoshi N, Minakawa S, Nakano H, Sawamura D
    • Journal Title

      Clin Exp Dermatol

      Volume: 41 Issue: 6 Pages: 502-505

    • DOI

      10.1111/ijd.12380

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Subcutaneous histiocytoid Sweet's syndrome followed by acute myelocytic leukemia.2016

    • Author(s)
      Korekawa A, Nakajima K, Nakano H, Sawamura D
    • Journal Title

      J Dermatol.

      Volume: 43 Issue: 11 Pages: 1370-1371

    • DOI

      10.1111/1346-8138.13401

    • Related Report
      2016 Research-status 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
      2015 Research-status 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 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Pemphigoid gestationis with prepartum flare.2014

    • Author(s)
      Minakawa S, Kaneko T, Rokunohe D, Nakajima K, Matsuzaki Y, Nakano H, Hashimoto T, Sawamura D
    • Journal Title

      J Dermatol

      Volume: 41 Issue: 9 Pages: 580-851

    • DOI

      10.1111/1346-8138.12576

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Necrobiosis Lipoidica in the Absence of diabetes mellitus: A case report and an analysis of 116 Japanese cases.2014

    • Author(s)
      Korekawa A, Nakajima K, Nakano H, Sawamura D
    • Journal Title

      Case Rep Clin Med.

      Volume: 3 Issue: 12 Pages: 639-643

    • DOI

      10.4236/crcm.2014.312136

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] X連鎖性魚鱗癬の遺伝子診断について2017

    • Author(s)
      赤坂英二郎、中野 創、河野通浩、秋山真志、澤村大輔
    • Organizer
      第32回角化症研究会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 末梢血間葉系幹細胞におけるⅦ型コラーゲン発現について2017

    • Author(s)
      赤坂英二郎、中野 創、神田由紀、鷹木由里子、豊巻由香、澤村大輔
    • Organizer
      第24回分子皮膚科学フォーラム
    • Related Report
      2017 Annual Research Report
  • [Presentation] Nagashima-type palmoplantar keratoderma: A possible soil of melanoma.2017

    • Author(s)
      Korekawa A, Akasaka E, Rokunohe D, Fukui T, Makita E, Sawamura D, Sawamura D
    • Organizer
      第31回表皮細胞研究会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 長島型掌蹠角化症との鑑別を要したPapillon-Lefèvre症候群2016

    • Author(s)
      赤坂英二郎、中野 創、三澤 恵、清水忠道、澤村大輔
    • Organizer
      第31回角化症研究会
    • Place of Presentation
      海運クラブ(東京都・千代田区)
    • Year and Date
      2016-07-30
    • Related Report
      2016 Research-status Report
  • [Presentation] 当科における掌蹠角化症の遺伝子変異検索2015

    • Author(s)
      赤坂英二郎、中野 創、鷹木由里子、豊巻由香、澤村大輔
    • Organizer
      日本皮膚科学会青森地方会第371回例会
    • Place of Presentation
      ホテルナクアシティ弘前(青森県弘前市)
    • Year and Date
      2015-08-30
    • Related Report
      2015 Research-status 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 Research-status 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 Research-status Report

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Published: 2014-04-04   Modified: 2019-03-29  

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