Generation of dominant dystrophic epidermolysis bullosa model mice using humanized COL7 mice

• Project/Area Number: 24659516
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Hokkaido University
• Principal Investigator: SHIMIZU Hiroshi 北海道大学, 大学院・医学研究科, 教授 (00146672)
• Co-Investigator(Kenkyū-buntansha): SHINKUMA Satoru 北海道大学, 大学院・医学研究科, 助教 (00613788)
• Project Period (FY): 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000); Fiscal Year 2012: ¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
• Keywords: 表皮水疱症 / モデルマウス / ドミナントネガティブ効果 / グリシン置換変異 / 7型コラーゲン

Research Abstract

Dominant dystrophic epidermolysis bullosa (DDEB) is a clinically heterogeneous disorder characterized by blistering and scarring of the skin and mucous membranes in response to mechanical force. The DDEB phenotype arises because of a dominant negative effect of mutations in type VII collagen gene, resulting in the formation of structurally abnormal anchoring fibrils. There have not been DDEB model mouse. In thisstudy, we attempt to generate the DDEB model mice.

Research Products

• [Journal Article] Jacyk、Ken Natsuga、Hideyuki Ujiie、Hideki Nakamura、Masashi Akiyama、Hiroshi Shimizu (2013)
  • Author(s): Satoru Shinkuma、Wataru Nishie、 Witold K
  • Journal Title: A Novel Keratin 5 Mutation in an African Family with Epidermolysis Bullosa Simplex Indicates the Importance of the Amino Acid Located at the Boundary Site Between the H1 and Coil 1A Domains Volume: 印刷中 Issue: 5 Pages: 585-587
  • DOI: 10.2340/00015555-1538
  • Peer Reviewed
• [Journal Article] Long-term Follow-up of Cultured Epidermal Autograft in a Patient with Recessive Dystrophic Epidermolysis Bullosa (2013)
  • Author(s): Shinkuma S, Sawamura D, Fujita Y, Kawasaki H, Nakamura H, Inoie M, Nishie W, Shimizu H
  • Journal Title: Acta Dermato-Venereologica Volume: In press
  • Peer Reviewed
• [Journal Article] Type VII collagen deficiency causesdefective tooth enamel formation due to poor differentiation of ameloblasts (2012)
  • Author(s): Umemoto H, Akiyama M, Domon T, Nomura T, Shinkuma S, Ito K, Asaka T, Sawamura D, Uitto J, Uo M, Kitagawa Y, Shimizu H
  • Journal Title: Am J Pathol Volume: 181 Issue: 5 Pages: 1659-71
  • DOI: 10.1016/j.ajpath.2012.07.018
  • Peer Reviewed
• [Journal Article] Long-term follow-up of cultured epidermal autograft in a recessive dystrophic epidermolysis bullosa patient
  • Author(s): Satoru Shinkuma、Daisuke Sawamura、Yasuyuki Fujita、Hiroyuki Kawasaki、Hiroyuki Nakamura、Masukazu Inoie、ataru Nishie、Hiroshi Shimizu
  • Journal Title: Acta Dermato-Venereologica Volume: (in press)
  • Peer Reviewed
• [Presentation] ケラチン5のコイル1A領域N末 端部にミスセンス変異を生じた単純型表皮水疱症 (2012)
  • Author(s): 新熊悟
  • Organizer: 第76回日本皮膚科学会東部支部学術大会
  • Place of Presentation: ロイトン札幌(北海道)
  • Year and Date: 2012-09-30
• [Presentation] Long-term follow-up ofcultured epidermal autograft in a recessive dystrophic epidermolysis bullosa patient (2012)
  • Author(s): 新熊悟
  • Place of Presentation: Raleigh Convention Center(米国)
  • Year and Date: 2012-05-10
• [Presentation] Long-term follow-up of cultured epidermal autograft in a recessive dystrophic epidermolysis bullosa patient (2012)
  • Author(s): Shinkuma S, Sawamura D, Kawasaki H, Nakamura H, Inoie M, Nishie W, Shimizu H
  • Organizer: 72nd Annual Meeting of the SOCIETY FOR INVESTIGATIVE DERMATOLOGY
  • Place of Presentation: Raleigh Convention Center（米国）