論文 - 秋山 真志
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ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts 査読有り
Akiyama M
Hum Mutat 31 巻 ( 10 ) 頁： 1090-6 2010年10月
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Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice 査読有り
Yanagi T, Akiyama M, Nishihara H, Ishikawa J, Sakai K, Miyamura Y, Naoe A, Kitahara T, Tanaka S, Shimizu H
Am J Pathol 177 巻 ( 1 ) 頁： 106-18 2010年7月
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Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis 査読有り
Shinkuma S, Akiyama M, Inoue A, Aoki J, Natsuga K, Nomura T, Arita K, Abe R, Ito K, Nakamura H, Ujiie H, Shibaki A, Suga H, Tsunemi Y, Nishie W, Shimizu H
Hum Mutat 31 巻 ( 5 ) 頁： 602-10 2010年5月
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Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis 査読有り
Akiyama M, Sakai K, Yanagi T, Fukushima S, Ihn H, Hitomi K, Shimizu H
Am J Pathol 176 巻 ( 4 ) 頁： 1592-9 2010年4月
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Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex 査読有り
Natsuga K, Nishie W, Akiyama M, Nakamura H, Shinkuma S, McMillan JR, Nagasaki A, Has C, Ouchi T, Ishiko A, Hirako Y, Owaribe K, Sawamura D, Bruckner-Tuderman L, Shimizu H
Hum Mutat 31 巻 ( 3 ) 頁： 308-16 2010年3月
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A novel active mouse model for bullous pemphigoid targeting humanized pathogenic antigen 査読有り
Ujiie H, Shibaki A, Nishie W, Sawamura D, Wang G, Tateishi Y, Li Q, Moriuchi R, Qiao H, Nakamura H, Akiyama M, Shimizu H
J Immunol 184 巻 ( 4 ) 頁： 2166-74 2010年2月
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Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation 査読有り
Ito K, Sawamura D, Goto M, Nakamura H, Nishie W, Sakai K, Natsuga K, Shinkuma S, Shibaki A, Uitto J, Denton CP, Nakajima O, Akiyama M, Shimizu H
Am J Pathol 175 巻 ( 6 ) 頁： 2508-17 2009年12月
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Ceramide stimulates ABCA12 expression via peroxisome proliferator-activated receptor delta in human keratinocytes 査読有り
Jiang YJ, Uchida Y, Lu B, Kim P, Mao C, Akiyama M, Elias PM, Holleran WM, Grunfeld C, Feingold KR
J Biol Chem 284 巻 ( 28 ) 頁： 18942-52 2009年7月
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Glycosylation specific for adhesion molecules in epidermis and its receptor revealed by glycoform-focused reverse genomics 査読有り
Uematsu R, Shinohara Y, Nakagawa H, Kurogochi M, Furukawa J, Miura Y, Akiyama M, Shimizu H, Nishimura S
Mol Cell Proteomics 8 巻 ( 2 ) 頁： 232-44 2009年2月
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Embryonic hair follicle fate change by augmented beta-catenin through Shh and Bmp signaling 査読有り
Suzuki K, Yamaguchi Y, Villacorte M, Mihara K, Akiyama M, Shimizu H, Taketo MM, Nakagata N, Tsukiyama T, Yamaguchi TP, Birchmeier W, Kato S, Yamada G
Development 136 巻 ( 3 ) 頁： 367-72 2009年2月
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Type XVII collagen is a key player in tooth enamel formation 査読有り
Asaka T, Akiyama M, Domon T, Nishie W, Natsuga K, Fujita Y, Abe R, Kitagawa Y, Shimizu H
Am J Pathol 174 巻 ( 1 ) 頁： 91-100 2009年1月
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CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes 査読有り
Akiyama M, Sakai K, Takayama C, Yanagi T, Yamanaka Y, McMillan JR, Shimizu H
Am J Pathol 173 巻 ( 5 ) 頁： 1349-60 2008年11月
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Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis 査読有り
Yamanaka Y, Akiyama M, Sugiyama-Nakagiri Y, Sakai K, Goto M, McMillan JR, Ota M, Sawamura D, Shimizu H
Am J Pathol 171 巻 ( 1 ) 頁： 43-52 2007年7月
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A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26 査読有り
Arita K, Akiyama M, Aizawa T, Umetsu Y, Segawa I, Goto M, Sawamura D, Demura M, Kawano K, Shimizu H
Am J Pathol 169 巻 ( 2 ) 頁： 416-23 2006年8月
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Expression of RNA-binding protein Musashi in hair follicle development and hair cycle progression 査読有り
Sugiyama-Nakagiri Y, Akiyama M, Shibata S, Okano H, Shimizu H
Am J Pathol 168 巻 ( 1 ) 頁： 80-92 2006年1月