Masashi Akiyama
Nagoya University
758 Papers
4.1K Citations
Masashi Akiyama is an academic researcher from Nagoya University. The author has contributed to research in topics: Medicine & Ichthyosis. The author has an hindex of 65, co-authored 685 publications. Previous affiliations of Masashi Akiyama include Hokkaido University & National Presto Industries.
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Papers
Novel ABCA12 Mutations Identified in Two Cases of Non-Bullous Congenital Ichthyosiform Erythroderma Associated with Multiple Skin Malignant Neoplasia
Ken Natsuga,Masashi Akiyama,Naoko Kato,Kaori Sakai,Yoriko Sugiyama-Nakagiri,Machiko Nishimura,Hiroo Hata,Masataka Abe,Ken Arita,Yukiko Tsuji-Abe,Takashi Onozuka,Satoru Aoyagi,Kazuo Kodama,Hideyuki Ujiie,Yuki Tomita,Hiroshi Shimizu +15 more
TL;DR: Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.
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A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.
Yukiko Nomura,Toshifumi Nomura,Kaori Sakai,K. Sasaki,Yuka Ohguchi,Osamu Mizuno,Hiroo Hata,Satoru Aoyagi,Riichiro Abe,Y. Itaya,Masashi Akiyama,Hiroshi Shimizu +11 more
TL;DR: This work has shown that loss‐of‐function mutations in the genes encoding γ‐secretase have been identified as a cause of familial HS in the Chinese and British populations.
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Plectin defects in epidermolysis bullosa simplex with muscular dystrophy
James R. McMillan,Masashi Akiyama,Fatima Rouan,Jemima E. Mellerio,E. B. Lane,Irene M. Leigh,Katsushi Owaribe,Gerhard Wiche,N. Fujii,Jouni Uitto,Robin A.J. Eady,Hiroshi Shimizu +11 more
TL;DR: It is concluded that fiber‐specific plectin expression is associated with the desmin‐cytoskeleton, Z‐lines, and crucially myocyte membrane linkage, analogous to hemidesmosomes in skin.
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Ceramide Stimulates ABCA12 Expression via Peroxisome Proliferator-activated Receptor δ in Human Keratinocytes
Yan J. Jiang,Yoshikazu Uchida,Biao Lu,Peggy Kim,Cungui Mao,Masashi Akiyama,Peter M. Elias,Walter M. Holleran,Carl Grunfeld,Kenneth R. Feingold +9 more
TL;DR: Ceramide, an important lipid component of epidermis, up-regulates ABCA12 expression via the PPARδ-mediated signaling pathway, providing a substrate-driven, feed-forward mechanism for regulating this key lipid transporter.
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Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations
Michihiro Kono,Toshifumi Nomura,Yuka Ohguchi,Osamu Mizuno,Shotaro Suzuki,Hiromi Tsujiuchi,Nobuyuki Hamajima,Whi McLean,Hiroshi Shimizu,Masashi Akiyama +9 more
TL;DR: The comprehensive screening suggested that population‐specific FLG mutations may be a significant predisposing factor for hay fever (odds ratio = 2.01 [95% CI: 1.027–3.936, P < 0.05]), although the sample sizes of this study were too small for reliable subphenotype analysis.
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