• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to project page

2013 Fiscal Year Final Research Report

Various phenotypes and pathophysiology of congenital ichthyoses

Research Project

  • PDF
Project/Area Number 23591661
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Dermatology
Research InstitutionHyogo Medical University

Principal Investigator

YAMANISHI Kiyofumi  兵庫医科大学, 医学部, 教授 (10182586)

Research Collaborator IMAI Yasutomo  兵庫医科大学, 医学部, 講師 (10529514)
NAKAGAWA Noboru  兵庫医科大学, 医学部, 講師 (90412014)
YAMAMOTO Masaaki  兵庫医科大学, 医学部, 講師
SAKAGUCHI Yoshiko  兵庫医科大学, 実験補助
Project Period (FY) 2011 – 2013
Keywords角化症 / 魚鱗癬 / 病態 / モデル動物 / サイトカイン
Research Abstract

Various phenotypes and pathophysiology were examined in Causative mutations in congenital ichthyoses including rare cases with epidermolytic ichthyosis with hypercalcemia and bathing suit ichthyosis with summer exacerbation. A knock-in mouse line with a transglutaminase 1 mutation R142C was generated using Cre-lox system and mice were subjected for analysis of the phenotype. Homozygous mutant mice were lethal soon after birth and showed a low expression of the enzyme. Intercellular lipid organization in the stratum corneum was totally disoriented in living mutant mice. In cases with Netherton syndrome, which show atopic dermatitis-like phenotypes, the up-regulation of interleukin 33 was evident. IL-33 may be involved in the atopy-like cutaneous inflammation in Netherton syndrome, because a skin-specific expression of IL-33 in mice showed immunological features resembling atopic dermatitis.

  • Research Products

    (14 results)

All 2014 2013 2012 2011 Other

All Journal Article (6 results) (of which Peer Reviewed: 6 results) Presentation (5 results) Book (2 results) Remarks (1 results)

  • [Journal Article] Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome2014

    • Author(s)
      Konishi T, Tsuda T, Sakaguchi Y, Imai Y, Ito T, Hirota S, Yamanishi K
    • Journal Title

      J Dermatol

      Volume: 41 Pages: 258-261

    • Peer Reviewed
  • [Journal Article] Variations in both TG1 and TG2 isozyme-specific in situ activities and protein expressions during mouse embryonic development2013

    • Author(s)
      Itoh M, Tatsukawa H, Eun-Seo L, Yamanishi K, Kojima S, Hitomi K
    • Journal Title

      J Histochem Cytochem

      Volume: 61 Pages: 793-801

    • Peer Reviewed
  • [Journal Article] Interleukin-17- and protease-activated receptor 2-mediated production of CXCL1 and CXCL8 modulated by cyclosporine A, vitamin D3 and glucocorticoids in human keratinocytes2012

    • Author(s)
      Takei-Taniguchi R, Imai Y, Ishikawa C, Sakaguchi Y, Nakagawa N, Tsuda T, Hollenberg MD, Yamanishi K
    • Journal Title

      J Dermatol

      Volume: 39 Pages: 625-631

    • Peer Reviewed
  • [Journal Article] Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia2012

    • Author(s)
      Yamamoto M, Tsuda T, Otaki Y, Nakanishi T,Yamanishi K
    • Journal Title

      J Dermatol

      Volume: 39 Pages: 716-718

    • Peer Reviewed
  • [Journal Article] Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice2012

    • Author(s)
      Nakagawa N, Yamamoto M, Imai Y, Sakaguchi Y, Takizawa T, Noboru O,Yagi N,Hatta I, Hitomi K, Takizawa T, Tsuda T, Matsuki M, Takeda J, Yamanishi K
    • Journal Title

      J Dermatol Sci

      Volume: 65 Pages: 196-206

    • Peer Reviewed
  • [Journal Article] Bathing suit ichthyosis with summer exacerbation : A temperature- sensitive case2012

    • Author(s)
      Yamamoto M, Sakaguchi Y, Itoh M, Nakagawa N, Fukunaga A, Hitomi K, Yamanishi K
    • Journal Title

      Br J Dermatol

      Volume: 166 Pages: 672-674

    • Peer Reviewed
  • [Presentation] Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome2014

    • Author(s)
      Yamanishi K, Nakagawa N, Haneda K, Sakaguchi Y, Imai Y
    • Organizer
      Symposium of the International Society of Dermatopathology
    • Place of Presentation
      Florence, Italy
    • Year and Date
      20140926-28
  • [Presentation] A variety of the phenotypes in transglutaminase-1 deficiency2013

    • Author(s)
      山西清文
    • Organizer
      第86回日本生化学会
    • Place of Presentation
      横浜
    • Year and Date
      2013-09-11
  • [Presentation] The phenotype of transglutaminase-1 deficiency. Transglutaminases in human disease processes2012

    • Author(s)
      Yamanishi K
    • Organizer
      Gordon Research Conference
    • Place of Presentation
      Davidson, North Carolina, USA
    • Year and Date
      2012-07-18
  • [Presentation] 角化症診療のカッティング・エッジ:非水疱型先天性魚鱗癬様紅皮症における表現型と責任遺伝子の多様性2012

    • Author(s)
      山西清文
    • Organizer
      第111回日本皮膚科学会総会
    • Place of Presentation
      京都
    • Year and Date
      2012-06-01
  • [Presentation] Disulfide cross-linking proceeds in the epidermis after the assembly of loricrin by transglutaminase 12011

    • Author(s)
      Yamamoto M, Nakagawa N, Sakaguchi Y, Mizuno Y, Suga Y, Yamanishi K
    • Organizer
      2nd Continental Congress of Dermatology of the International Society of Dermatology
    • Place of Presentation
      St. Petersburg, Russia
    • Year and Date
      20110706-09
  • [Book] シェーグレン・ラルソン症候群症候群ハンドブック2011

    • Author(s)
      山西清文
    • Total Pages
      54
    • Publisher
      中山書店
  • [Book] Lamellar ichthyosis; Non-bullous congenital ichthyosiform erythroderma; Sjögren-Larrson syndrome. The Color Atlas of Disorders of Keratinization 2nd edition2011

    • Author(s)
      Yamanishi K
    • Total Pages
      77-78; 79-81; 90-91
    • Publisher
      Kyowa Kikaku, LTD
  • [Remarks]

    • URL

      http://www.hyo-med.ac.jp/department/drmt/Ref1.html

URL: 

Published: 2015-07-16  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi