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2011 Fiscal Year Final Research Report

Elucidation of pathogenesis of DSH with the model mouse that melanocyte is distributed in epidermis

Research Project

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Project/Area Number 21591460
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Dermatology
Research InstitutionNagoya University

Principal Investigator

KONO Michihiro  名古屋大学, 医学系研究科, 講師 (60319324)

Co-Investigator(Kenkyū-buntansha) MASAKI Sawada  名古屋大学, 医学部附属病院, 助教 (80467315)
Project Period (FY) 2009 – 2011
Keywords色素細胞学
Research Abstract

1)ADAR1 p150 isoform specific knockout mice were constructed and the investigation of phenotype of the heterozygous mice was done.
(2)The SCF-transgenic (Tg) mouse and p150-Adar1-KO mouse were crossbred and the SCF-Tg/p150-Adar1-KO mouse that melanocyte was present in the epidermis was manufactured as a candidate of DSH model mouse. The phenotype of the mouse was examined.
(3)Eight novel mutations in ADAR1 which caused in Dyschromatosis symmetrica hereditaria were identified.

  • Research Products

    (23 results)

All 2013 2012 2011 2010 2009

All Journal Article (14 results) (of which Peer Reviewed: 11 results) Presentation (8 results) Book (1 results)

  • [Journal Article] Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?2013

    • Author(s)
      Kono M, Akiyama M et al.
    • Journal Title

      Int J Dermatol

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] Clinico-pathologic Analysis of 66 Japanese Thin Melanomas with Metastasis of Sentinel or Regional Lymph Node.2013

    • Author(s)
      Mori M, Sugiura M, Kono M et al
    • Journal Title

      J Cutan Pathol.

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] Oculocutaneous albinism 1 minimal pigment type: A case report on the analysis of genotype of an OCA1MP patient.2012

    • Author(s)
      Kono M et al.
    • Journal Title

      Br J Dermatol.

      Volume: 166(4) Pages: 896-8

    • Peer Reviewed
  • [Journal Article] Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria.2012

    • Author(s)
      Kono M, Akiyama M et al.
    • Journal Title

      J Dermatol.

      Volume: 39(9) Pages: 819-21

    • Peer Reviewed
  • [Journal Article] Detection of Merkel cell polyomavirus in cutaneous squamous cell carcinoma prior to occurrence of Merkel cell carcinoma.2011

    • Author(s)
      Kaibuchi-Noda K, … Kono M et al
    • Journal Title

      J Am Acad Dermatol

      Volume: 65(5) Pages: e152-4

    • Peer Reviewed
  • [Journal Article] 遺伝子解析より眼皮膚白皮症4型と考えられた1例2011

    • Author(s)
      小島知子,馬渕智生, 梅澤慶紀, 松山孝, 小澤明, 近藤泰輔, 河野通浩, 富田 靖, 鈴木民夫
    • Journal Title

      日本皮膚科学会雑誌

      Volume: 121(2) Pages: 1707-13

    • Peer Reviewed
  • [Journal Article] Dermoscopic evaluation of vascular structures of various skin tumors in Japanese patients.2010

    • Author(s)
      Akihiro Sakakibara, Michihiro Kamijima, Shinichi Shibata, Satoshi Yasue, Michihiro Kono, Yasushi Tomita.
    • Journal Title

      J Dermatol

      Volume: 37(4) Pages: 316-322

    • Peer Reviewed
  • [Journal Article] Interval sentinel lymph nodes in patients with cutaneous melanoma: A single-institution study in Japan2010

    • Author(s)
      Takaaki Matsumoto, Shinichi Shibata, Satoshi Yasue, Akihiro Sakakibara, Kenji Yokota, Masaki Sawada, Michihiro Kono, Katsuhiko Kato, Yoshie Shimoyama, Yasushi Tomita.
    • Journal Title

      J Dermatol

      Volume: 37(7) Pages: 629-634

    • Peer Reviewed
  • [Journal Article] 【治療にてこずる皮膚疾患】 尋常性白斑 被覆化粧品・医薬部外品2010

    • Author(s)
      河野通浩
    • Journal Title

      皮膚科の臨床

      Volume: 52(11) Pages: 1707-1713

  • [Journal Article] Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2.2009

    • Author(s)
      Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, Katrien Storm, Martine Biervliet, Winnie Courtens, Michihiro Kono, Yasushi Tomita, Tamio Suzuki.
    • Journal Title

      Am J Med Genet A

      Volume: 149A(8) Pages: 1773-1776

    • Peer Reviewed
  • [Journal Article] Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria.2009

    • Author(s)
      Ichidai Murata, Yutaka Hozumi, Masakazu Kawaguchi, Yoshiyuki Katagiri, Shinichiro Yasumoto, Yoshiaki Kubo, Wataru Fujimoto, Tatsuya Horikawa, Taisuke Kondo, Michihiro Kono, Yasushi Tomita, Tamio Suzuki.
    • Journal Title

      J Dermatol Sci

      Volume: 53(1) Pages: 76-77

    • Peer Reviewed
  • [Journal Article] Establishment of a screening system for chemicals that upregulate a melanoma antigen, Melan-A/MART-1.2009

    • Author(s)
      Hai Zhen Song, Michihiro Kono, Yasushi Tomita.
    • Journal Title

      Tohoku J Exp Med

      Volume: 217(3) Pages: 231-237

    • Peer Reviewed
  • [Journal Article] 遺伝子解析により診断された Hermansky -Pudlak 症候群の女児例2009

    • Author(s)
      近藤泰輔、鈴木民夫、河野通浩、中澤 満、富田 靖
    • Journal Title

      皮膚病診療

      Volume: 31(3) Pages: 333-336

  • [Journal Article] 遺伝性対側性色素異常症 病因遺伝子の変異部位は ADAR1 酵素の p150 アイソフォームの欠損を示す2009

    • Author(s)
      河野通浩、近藤泰輔、鈴木民夫、鈴木教之、富田 靖
    • Journal Title

      皮膚病診療

      Volume: 31(3) Pages: 309-312

  • [Presentation] Two novel ADAR1 mutations in dyschromatosis symmetrica hereditaria suggest haploinsufficiency as pathomechanisms of the disease2011

    • Author(s)
      Michihiro Kono, Taisuke Kondo, Yasushi Tomita, Masashi Akiyama
    • Organizer
      The 36th Annual Meeting of the Japanese Society for Investigative Dermatology.
    • Place of Presentation
      Kyoto, Japan.
    • Year and Date
      20111209-11
  • [Presentation] Oculocutaneous albinism 1 minimal pigment type; a case report on the analysis of genotype-phenotype correlation2011

    • Author(s)
      Michihiro Kono, Taisuke Kondo, Shiro Ito, Tamio Suzuki, Kazumasa Wakamatsu, Shosuke Ito, Yasushi Tomita
    • Organizer
      XXIst International Pigment Cell Conference.
    • Place of Presentation
      Bordeaux, France.
    • Year and Date
      20110921-24
  • [Presentation] Four novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a mutation in patient associated with encephalitis2010

    • Author(s)
      Michihiro Kono, Taisuke Kondo, Tamio Suzuki, Mari Kaneda, Akihiko Shibaki, Amarillis Sanchez-Valle, Hirotaka Akita, Yasushi Tomita
    • Organizer
      The 35th Annual Meeting of the Japanese Society for Investigative Dermatology
    • Place of Presentation
      和歌山
    • Year and Date
      2010-12-03
  • [Presentation] Five novel ADAR1 mutations in patients with dyschromatosis symmetrica hereditaria and a known mutation in a patient developing her skin manifestation after viral encephalitis2010

    • Author(s)
      Michihiro Kono, Taisuke Kondo, Tamio Suzuki, Mari Kaneda, Sakuhei Fujiwara, Akihiko Shibaki, Amarillis Sanchez-Valle, Hirotaka Akita, Joseph Lam, Yasushi Tomita
    • Organizer
      第23回日本色素細胞学会
    • Place of Presentation
      東京
    • Year and Date
      2010-11-27
  • [Presentation] Knockdown of ADAR1 gene expression in cultured melanocytes by siRNA2009

    • Author(s)
      Michihiro Kono, Tamio Suzuki, Yasushi Tomita
    • Organizer
      第34回日本研究皮膚科学会
    • Place of Presentation
      福岡
    • Year and Date
      20091204-06
  • [Presentation] 遺伝子解析から眼皮膚白皮症4型と考えられた1例2009

    • Author(s)
      小島知子、馬渕智生、梅澤慶紀、松山 孝、小澤 明、近藤泰輔、河野通浩、富田 靖、鈴木民夫
    • Organizer
      第108回日本皮膚科学会総会
    • Place of Presentation
      福岡
    • Year and Date
      20090424-26
  • [Presentation] 遺伝性対側性色素異常症の病因遺伝子 ADAR1の分化段階の異なるマウスメラノサイトでの働きの検討2009

    • Author(s)
      河野通浩、鈴木民夫、富田 靖
    • Organizer
      第22回日本色素細胞学会学術大会
    • Place of Presentation
      福岡
    • Year and Date
      2009-12-05
  • [Presentation] 遺伝性対側性色素異常症の病因遺伝子 ADAR1の分化段階の異なるマウスメラノサイトでの働きの検討2009

    • Author(s)
      河野通浩、鈴木民夫、富田 靖
    • Organizer
      第16回分子皮膚科学フォーラム
    • Place of Presentation
      札幌
    • Year and Date
      2009-11-20
  • [Book] 「遺伝性対側性色素異常症(遠山)」 皮膚科診療カラーアトラス大系 第3巻(色調異常/水疱性疾患・膿疱症)2009

    • Author(s)
      河野通浩
    • Total Pages
      182
    • Publisher
      東京、講談社

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Published: 2014-08-29  

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