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FLG2 gene mutations and atopic dermatitis

Research Project

Project/Area Number 24791129
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionHokkaido University

Principal Investigator

HASEBE Ikue  北海道大学, 医学(系)研究科(研究院), 客員研究員 (70616341)

Project Period (FY) 2012-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2013: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2012: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywordsアトピー性皮膚炎 / フィラグリン / フィラグリン2
Research Abstract

In this study, we performed mutation analysis of the gene encoding filaggrin (FLG) using DNA samples derived from patients with atopic dermatitis. We identified 11 loss-of-function FLG mutations including a novel one and demonstrated that approximately 30% of AD cases carry one or more FLG mutations. Furthermore, we have identified a nonsense mutation in the gene encoding filaggrin 2 (FLG2), which is predicted to have a similar function as filaggrin, using whole-exome sequence analysis. Now the mutation carrier frequency is being analyzed in AD case series.

Report

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

    (7 results)

All 2014 2013 2012 Other

All Journal Article (7 results) (of which Peer Reviewed: 7 results)

  • [Journal Article] A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris.2014

    • Author(s)
      Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, McLean WH, Shimizu H.
    • Journal Title

      European Journal of Dermatology

      Volume: in press

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Wells' syndrome associated with chronic myeloid leukemia2013

    • Author(s)
      Nakazato S, Fujita Y, Hamade Y, Nemoto-Hasebe I, Sugita J, Nishie W, Shimizu H
    • Journal Title

      Acta Dermato-Venereologica

      Volume: 93巻 Issue: 3 Pages: 375-376

    • DOI

      10.2340/00015555-1483

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] 【全身症状を伴う皮膚疾患(2)】<臨床例>慢性骨髄性白血病を合併したWells 症候群2013

    • Author(s)
      中里信一, 藤田靖幸, 濱出洋平, 長谷部育恵, 杉田純一, 西江 渉, 清水 宏
    • Journal Title

      皮膚病診療

      Volume: 35 Pages: 881-884

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] 顔面の腫脹から診断に至った皮下脂肪織炎様T 細胞性リンパ腫の1例2013

    • Author(s)
      中里信一, 藤田靖幸, 古口華子, 長谷部育恵, 近藤 健, 白鳥聡一, 西江 渉, 清水宏
    • Journal Title

      皮膚科の臨床

      Volume: 55 Pages: 1204-1205

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] アフェレシスと希少疾患 成人Still 病, 非定型的皮疹を認め, 免疫抑制剤と血漿交換によって軽快した1例2013

    • Author(s)
      長谷部育恵, 阿部理一郎
    • Journal Title

      日本アフェレシス学会雑誌

      Volume: 32 Pages: 138-140

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Circumscribed palmar hypokeratosis : Correlation between histopathological patterns and dermoscopic findings2012

    • Author(s)
      Nishimura M, Nishie W, et al.
    • Journal Title

      Br J Dermatol

      Volume: 167 Issue: 1 Pages: 221-2

    • DOI

      10.1111/j.1365-2133.2012.10855.x

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris

    • Author(s)
      Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, McLean WH, Shimizu H
    • Journal Title

      European Journal of Dermatology

      Volume: (in press)

    • Related Report
      2013 Final Research Report
    • Peer Reviewed

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Published: 2013-05-31   Modified: 2019-07-29  

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