2009 Fiscal Year Self-evaluation Report
Analysis of pathological mechanisms of keratinization disorders
Project/Area Number |
19591294
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Dermatology
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Research Institution | Asahikawa Medical College |
Principal Investigator |
YAMAMOTO Akemi Asahikawa Medical College, 医学部, 准教授 (30241441)
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Project Period (FY) |
2007 – 2010
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Keywords | 角化症 / 免疫電顕法 / 角化細胞 / プロテアーゼ / 皮膚バリア |
Research Abstract |
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。
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Research Products
(14 results)
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[Journal Article] RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome.2009
Author(s)
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.
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Journal Title
Am J Hum Genet 85
Pages: 254-63
Peer Reviewed
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[Journal Article] Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.2008
Author(s)
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.
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Journal Title
Am J Hum Genet 82
Pages: 1114-21
Peer Reviewed
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[Journal Article] Targeted deletion of themurine corneodesmosin gene delineates its essential role in skin and hair physiology.2008
Author(s)
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.
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Journal Title
Proc Natl Acad Sci U S A 105
Pages: 6720-4
Peer Reviewed
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[Journal Article] Defective lamellar granule secretion inarthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.2008
Author(s)
Hershkovitz D, Mandel H, Ishida-Yamamoto A, Chefetz I, Hino B, Luder A, Indelman M, Bergman R, Sprecher E.
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Journal Title
Arch Dermatol 144
Pages: 334-40
Peer Reviewed
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[Journal Article] KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.2008
Author(s)
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.
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Journal Title
J Invest Dermatol 128
Pages: 1517-24
Peer Reviewed
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[Journal Article] Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.2007
Author(s)
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.
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Journal Title
Am J Hum Genet 80
Pages: 467-77
Peer Reviewed
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[Journal Article] Kallikrein 8 is involved in skin desquamation in cooperation with other kallikreins.2007
Author(s)
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.
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Journal Title
J Biol Chem 282
Pages: 5834-41
Peer Reviewed
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