Investigation on failures of RNA editing and immune system againstviral infection in dyschromatosis symmetrica hereditaria

2012 Fiscal Year Final Research Report

• Project/Area Number: 23791252
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Dermatology
• Research Institution: Yamagata University
• Principal Investigator: HAYASHI Masahiro 山形大学, 医学部, 助教 (30396569)
• Research Collaborator: HOZUMI Yutaka 山形大学, 医学部, 技術専門員
• Project Period (FY): 2011 – 2012
• Keywords: 色素細胞 / 遺伝子変異 / ウイルス感染 / RNA 編集

Research Abstract

I have investigated pathomechanisms of dyschromatosis symmetricahereditaria (DSH). I have collected 43 samples of patients with DSH including a Turkishpatient and genetically diagnosed them. The results have been reported. And Iestablished the ADAR1-knockdown melanoma cells, which are model cells for DSH. Then,using the knockdown cells I found some interesting data showing association betweenvirus infection and DSH.

Research Products

• [Journal Article] Dyschromatosis symmetrica hereditaria (2013)
  • Author(s): Hayashi M, Suzuki T
  • Journal Title: J Dermatol Volume: 40 Pages: 336-343
  • DOI: doi:10.1111/j.1346-8138.2012.01661.x.
  • Peer Reviewed
• [Journal Article] Case of epidermolytic palmoplantar keratoderma with knuckle pads (2012)
  • Author(s): Hayashi M, Nakano H, Sawamura D,Suzuki T
  • Journal Title: J Dermatol Volume: 39 Pages: 84-87
  • DOI: doi:10.1111/j.1346-8138.2011.01226.x.
  • Peer Reviewed
• [Journal Article] Eleven novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria (2012)
  • Author(s): Kawaguchi M, Hayashi M, Murata I, et al
  • Journal Title: J Dermatol Sci Volume: 66 Pages: 245-246
  • DOI: doi:10.1016/j.jdermsci.2012.01.009.
  • Peer Reviewed
• [Journal Article] Dermoscopic features of dyschromatosis symmetrica hereditaria (2011)
  • Author(s): Oiso N, Murata I, Hayashi M, et al
  • Journal Title: J Dermatol Volume: 38 Pages: 91-93
  • DOI: doi:10.1111/j.1346-8138.2010.01110.x.
  • Peer Reviewed
• [Journal Article] Dystrophic epidermolysis bullosa pruriginosa of elderly onset (2011)
  • Author(s): Hayashi M, Kawaguchi M, Hozumi Y, Nakano H, Sawamura D, Suzuki T
  • Journal Title: J Dermatol Volume: 38 Pages: 173-178
  • DOI: doi:10.1111/j.1346-8138.2010.00953.x
  • Peer Reviewed
• [Journal Article] Two children with a mild or moderate piebaldism phenotype and a father with no leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT (2011)
  • Author(s): Narita T, Oiso N, Hayashi M, et al
  • Journal Title: Euro J Dermatol Volume: 21 Pages: 446-447
  • DOI: doi:10.1684/ejd.2011.1350.
  • Peer Reviewed
• [Journal Article] A case of subcutaneous lobular capillary hemangioma (2011)
  • Author(s): Hayashi M, Suzuki T
  • Journal Title: J Dermatol Volume: 38 Pages: 1003-1006
  • DOI: doi:10.1111/j.1346-8138.2010.01163.x.
  • Peer Reviewed
• [Journal Article] Oculocutaneous Albinism Type 3: a Japanese Girl With Novel Mutations in TYRP1gene. (2011)
  • Author(s): Yamada M, Hayashi M, Sakai K, et al
  • Journal Title: J Dermatol Sci Volume: 64 Pages: 217-222
  • DOI: doi:10.1016/j.jdermsci.2011.09.005
  • Peer Reviewed
• [Presentation] Albinochip: a universal genetic diagnosis for all known mutations associated to albinism (2011)
  • Author(s): E. Molto, A. Fernandez, C. Phillips, M. Torres, O. Maronas, B. Arveiler, F. Morice-Picard, A. Taieb, R. Aquaron, V. Schiaffino, M. Hayashi, T. Suzuki, M. Martinez, M. J. Trujillo, C. Ayuso, A. Carracedo, L. Montoliu
  • Organizer: 21st International Pigment Cell Conference
  • Place of Presentation: Palais des Congres of Bordeaux, Bordeaux, France
  • Year and Date: 20110920-24
• [Presentation] Hereditary hypo-pigmentary disorders (2011)
  • Author(s): T. Suzuki, M. Hayashi
  • Organizer: 22nd World Congress of Dermatology
  • Place of Presentation: COEX Convention and Exhibition Center, Seoul, Korea
  • Year and Date: 20110524-29
• [Presentation] A Case of epidermolytic palmoplantar keratoderma with knuckle pads (2011)
  • Author(s): Hayashi M, Nakano H, Sawamura D, T. Suzuki
  • Organizer: 22nd World Congress of Dermatology
  • Place of Presentation: COEX Convention and Exhibition Center, Seoul, Korea
  • Year and Date: 20110524-29
• [Remarks]
  • URL: http://minfo2.id.yamagata-u.ac.jp/hifuka/index.html