角化異常症の病態解明

2009 年度 自己評価報告書

• 研究課題/領域番号: 19591294
• 研究種目: 基盤研究(C)
• 配分区分: 補助金
• 応募区分: 一般
• 研究分野: 皮膚科学
• 研究機関: 旭川医科大学
• 研究代表者: 山本 明美 旭川医科大学内科学講座, 医学部, 准教授 (30241441)
• 研究期間 (年度): 2007 – 2010
• キーワード: 角化症 / 免疫電顕法 / 角化細胞 / プロテアーゼ / 皮膚バリア

研究概要

原因不明であったいくつかのヒトの角化異常症の原因、病態を解明した。正常角化の機序を解析した。また角化異常症モデル動物を作成し、角化異常の機序を明らかにした。

研究成果

• [雑誌論文] Three-base deletion mutation c.120_122delGTT in ATP2A2 leads to the unique phenotype of comedonal Darier disease. (2010)
  • 著者名/発表者名: Tsuruta D, Akiyama M, Ishida-Yamamoto A, Imanishi H, Mizuno N, Sowa J, Kobayashi H, Ishii M, Kurokawa I, Shimizu H.
  • 雑誌名: Br J Dermatol 162 ページ: 687-9
  • 査読あり
• [雑誌論文] RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. (2009)
  • 著者名/発表者名: Basel-Vanagaite L, Sarig O, Hershkovitz D, Fuchs-Telem D, Rapaport D, Gat A, Isman G, Shirazi I, Shohat M, Enk CD, Birk E, Kohlhase J, Matysiak-Scholze U, Maya I, Knopf C, Peffekoven A, Hennies HC, Bergman R, Horowitz M, Ishida-Yamamoto A, Sprecher E.
  • 雑誌名: Am J Hum Genet 85 ページ: 254-63
  • 査読あり
• [雑誌論文] Lamellar bodies of human epidermis: proteomics characterization by high throughput mass spectrometry and possible involvement of CLIP-170 in their trafficking/secretion. (2008)
  • 著者名/発表者名: Raymond AA, Gonzalez de Peredo A, Stella A, Ishida-Yamamoto A, Bouyssie D, Serre G, Monsarrat B, Simon M.
  • 雑誌名: Mol Cell Proteomics 7 ページ: 2151-75
  • 査読あり
• [雑誌論文] Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis. (2008)
  • 著者名/発表者名: Nousbeck J, Spiegel R, Ishida-Yamamoto A, Indelman M, Shani-Adir A, Adir N, Lipkin E, Bercovici S, Geiger D, van Steensel MA, Steijlen PM, Bergman R, Bindereif A, Choder M, Shalev S, Sprecher E.
  • 雑誌名: Am J Hum Genet 82 ページ: 1114-21
  • 査読あり
• [雑誌論文] Targeted deletion of themurine corneodesmosin gene delineates its essential role in skin and hair physiology. (2008)
  • 著者名/発表者名: Matsumoto M, Zhou Y, Matsuo S, Nakanishi H, Hirose K, Oura H, Arase S, Ishida-Yamamoto A, Bando Y, Izumi K, Kiyonari H, Oshima N, Nakayama R, MatsushimaA, Hirota F, Mouri Y, Kuroda N, Sano S, Chaplin DD.
  • 雑誌名: Proc Natl Acad Sci U S A 105 ページ: 6720-4
  • 査読あり
• [雑誌論文] Defective lamellar granule secretion inarthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B. (2008)
  • 著者名/発表者名: Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E.
  • 雑誌名: Arch Dermatol 144 ページ: 334-40
  • 査読あり
• [雑誌論文] KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. (2008)
  • 著者名/発表者名: Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E.
  • 雑誌名: J Invest Dermatol 128 ページ: 1517-24
  • 査読あり
• [雑誌論文] Epidermal terminal differentiation depends on Blymphocyte-induced maturation protein-1 (2007)
  • 著者名/発表者名: Magnusdottir E, Kalachikov S, Mizukoshi K, Savitsky D, Ishida-Yamamoto A, Panteleyev AA, Calame K.
  • 雑誌名: Proc Natl Acad Sci U S A 104 ページ: 14988-93
  • 査読あり
• [雑誌論文] Rab11 is associated with epidermal lamellar granules. (2007)
  • 著者名/発表者名: Ishida-Yamamoto A, Kishibe M, Takahashi H, Iizuka H.
  • 雑誌名: J Invest Dermatol 127 ページ: 2166-70
  • 査読あり
• [雑誌論文] Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. (2007)
  • 著者名/発表者名: Basel-Vanagaite L, Attia R, Ishida-Yamamoto A, Rainshtein L, Ben Amitai D, Lurie R, Pasmanik-Chor M, Indelman M, Zvulunov A, Saban S, Magal N, Sprecher E, Shohat M.
  • 雑誌名: Am J Hum Genet 80 ページ: 467-77
  • 査読あり
• [雑誌論文] Kallikrein 8 is involved in skin desquamation in cooperation with other kallikreins. (2007)
  • 著者名/発表者名: Kishibe M, Bando Y, Terayama R, Namikawa K, Takahashi H, Hashimoto Y, Ishida-Yamamoto A, Jiang YP, Mitrovic B, Perez D, Iizuka H, Yoshida S.
  • 雑誌名: J Biol Chem 282 ページ: 5834-41
  • 査読あり
• [雑誌論文] Involvement of corneodesmosome degradation and lamellar granule transportation in the desquamation process.
  • 著者名/発表者名: Akemi Ishida-Yamamoto, Mari Kishibe
  • 雑誌名: Medical Molecular Morphology (in press)
  • 査読あり
• [学会発表] Lamellar body trafficking in the epidermal barrier and disease. (2009)
  • 著者名/発表者名: Ishida-Yamamoto A
  • 学会等名: Gordon Research Conferences, Barrier Function of Mammalian Skin, Molecular, Biophysical & Biomechanical Understanding of Skin Barrier Formation, Functin & Disease
  • 発表場所: Waterville Valley, NH, USA
  • 年月日: 20090809-20090814
• [図書] Therapy of Skin Diseases(Kriege T, Bickers DR, Miyachi Y, ed, Inherited Keratinocyte Diseases (Ichthyosis and Related Disoders)) (2010)
  • 著者名/発表者名: Akemi Ishida-Yamamoto
  • 総ページ数: 561-573
  • 出版者: Springer-Verlag