New insight into genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa

• Project/Area Number: 23890006
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Dermatology
• Research Institution: Hokkaido University
• Principal Investigator: SHINKUMA Satoru 北海道大学, 大学院・医学研究科, 助教 (00613788)
• Project Period (FY): 2011 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥3,250,000 (Direct Cost: ¥2,500,000、Indirect Cost: ¥750,000); Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000); Fiscal Year 2011: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 表皮水疱症 / 遺伝子変異検索 / 免疫組織学的検査 / 電子顕微鏡学的検査

Research Abstract

Because most cases of recessive dystrophic epidermolysis bullosa are caused by compound heterozygous COL7A1 mutations, it is usually difficult to assess the clinical phenotype and function of each mutant type VII collagen derived from different mutations. To clarify this question, genotype-phenotype correlation was analyzed in patients specifically having common COL7A1 mutations on one allele, which is known to lead to complete loss of type VII collagen expression through a premature termination codon.

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] 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 (2013)
  • Author(s): Shinkuma S, Nishie W, Jacyk WK, Natsuga K, Ujiie H, Nakamura H, Akiyama M, Shimizu H.
  • Journal Title: Acta Dermato-Venereologica Volume: In press
  • 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
  • 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 of cultured 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）
• [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、西江 渉、Jacyk WK、夏賀 健、氏家英之、中村秀樹、秋山真志、清水 宏
  • 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）