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Sakai, Kaori, Akiyama, Masashi, Yanagi, Teruki, McMillan, James R., Suzuki, Tamio, Tsukamoto, Katsuhiko, Sugiyama, Hideaki, Hatano, Yuji, Hayashitani, Machiko, Takamori, Kenji, Nakashima, Keiko and Shimizu, Hiroshi (2009) ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. Journal of Investigative Dermatology, 129 9: 2306-2309. doi:10.1038/jid.2009.23 187   18 Cited 23 times in Scopus23 3
McMillan, James R ., Haftek, Marek, Akiyama, Masashi, South, Andrew P ., Perrot, Henri, McGrath, John A., Eady, Robin A. J. and Shimizu, Hiroshi (2003) Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. Journal of Investigative Dermatology, 121 1: 96-103. doi:10.1046/j.1523-1747.2003.12324.x 82   30 Cited 36 times in Scopus36 3
Akiyama, Masashi, Sakai, Kaori, Arita, Ken, Nomura, Yukiko, Ito, Kei, Kodama, Kazuo, McMillan, James R., Kobayashi, Kinuko, Sawamura, Daisuke and Shimizu, Hiroshi (2007) A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. Journal of Investigative Dermatology, 127 6: 1540-1543. doi:10.1038/sj.jid.5700711 103   13 Cited 13 times in Scopus13 0
Fujita, Yasuyuki, Abe, Riichiro, Inokuma, Daisuke, Sasaki, Mikako, Hoshina, Daichi, Natsuga, Ken, Nishie, Wataru, McMillan, James R., Nakamura, Hideki, Shimizu, Tadamichi, Akiyama, Masashi, Sawamura, Daisuke and Shimizu, Hiroshi (2010) Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice. Proceedings of the National Academy of Sciences of the United States of America, 107 32: 14345-14350. doi:10.1073/pnas.1000044107 68   19 Cited 22 times in Scopus22 1
Akiyama, Masashi, Sakai, K.aori, Takayama, Chitoshi, Yanagi, Teruki, Yamanaka, Yasuko, McMillan, James R. and Shimizu, Hiroshi (2008) CGI-58 is an α/β-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. American Journal of Pathology, 173 5: 1349-1360. doi:10.2353/ajpath.2008.080005 52   11 Cited 14 times in Scopus14 0
Tsuchida, Shuichi, Bonkobara, Makoto, McMillan, James R ., Akiyama, Masashi, Yudate, Tatsuo, Aragane, Yoshinori, Tezuka, Tadashi, Shimizu, Hiroshi, Cruz, Ponciano D. and Ariizumi, Kiyoshi (2004) Characterization of Kdap, a protein secreted by keratinocytes. Journal of Investigative Dermatology, 122 5: 1225-1234. doi:10.1111/j.0022-202X.2004.22511.x 39   12 Cited 12 times in Scopus12 3
Qiao, Hongjiang, Shibaki, Akihiko, Long, Heather A., Wang, Gang, Li, Qiang, Nishie, Wataru, Abe, Riichiro, Akiyama, Masashi, Shimizu, Hiroshi and McMillan, James R. (2009) Collagen XVII participates in keratinocyte adhesion to collagen IV, and in p38-MAPK-dependent migration and cell signaling Wa. Journal of Investigative Dermatology, 129 9: 2288-2295. doi:10.1038/jid.2009.20 56   13 Cited 14 times in Scopus14 1
McMillan, James R., Akiyama, Masashi, Nakamura, Hideki and Shimizu, Hiroshi (2006) Colocalization of multiple laminin isoforms predominantly beneath hemidesmosomes in the upper lamina densa of the epidermal basement membrane. Journal of Histochemistry and Cytochemistry, 54 1: 109-118. doi:10.1369/jhc.5A6701.2005 46   11 Cited 12 times in Scopus12 0
Akiyama, Masashi, Sakai, Kaori, Sugiyama-Nakagiri, Yoriko, Yamanaka, Yasuko, McMillan, James R., Sawamura, Daisuke, Niizeki, Hironori, Miyagawa, Sachiko and Shimizu, Hiroshi (2006) Compound heterozygous mutations including a de novo missense mutation in ABCA12 Led to a case of harlequin ichthyosis with moderate clinical severity. Journal of Investigative Dermatology, 126 7: 1518-1523. doi:10.1038/sj.jid.5700295 76   22 Cited 23 times in Scopus23 0
Long, Heather A., McMillan, James, Qiao, Hongjiang, Akiyama, Masashi and Shimizu, Hiroshi (2009) Current Advances in Gene Therapy for the Treatment of Genodermatoses. Current Gene Therapy, 9 6: 487-494. doi:10.2174/156652309790031139 94   4 Cited 5 times in Scopus5 0
Akiyama, Masashi, Titeux, Matthias, Sakai, Kaori, McMillan, James R ., Tonasso, Laure, Calvas, Patrick, Jossic, Frederique, Hovnanian, Alain and Shimizu, Hiroshi (2007) DNA-Based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences. Journal of Investigative Dermatology, 127 3: 568-573. doi:10.1038/sj.jid.5700617 63   23 Cited 30 times in Scopus30 0
McMillan, James R., Akiyama, Masashi and Shimiz, Hiroshi (2003) Epidermal basement membrane zone components: Ultrastructural distribution and molecular interactions. Journal of Dermatological Science, 31 3: 169-177. doi:10.1016/S0923-1811(03)00045-8 65   57 Cited 65 times in Scopus65 0
Sawamura, Daisuke, McMillan, James R., Akiyama, Masashi and Shimizu, Hiroshi (2003) Epidermolysis bullosa: Directions for future research and new challenges for treatment. Archives of Dermatological Research, 295 Supplement 1: S34-S42. doi:10.1007/s00403-002-0370-7 36   5 Cited 6 times in Scopus6 0
Yamanaka, Yasuko, Akiyama, Masashi, Sugiyama-Nakagiri, Yoriko, Sakai, Kaori, Goto, Maki, McMillan, James R., Ota, Mitsuhito, Sawamura, Daisuke and Shimizu, Hiroshi (2007) Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis. American Journal of Pathology, 171 1: 43-52. doi:10.2353/ajpath.2007.061207 30   20 Cited 21 times in Scopus21 4
Nishie, Wataru, Sawamura, Daisuke, Goto, Maki, Ito, Kei, Shibaki, Akihiko, McMillan, James R., Sakai, Kaori, Nakamura, Hideki, Olasz, Edit, Yancey, Kim B., Akiyama, Masashi and Shimizu, Hiroshi (2007) Humanization of autoantigen. Nature Medicine, 13 3: 378-383. doi:10.1038/nm1496 44   106 Cited 122 times in Scopus122 1
Sakai, Kaori, Akiyama, Masashi, Sugiyama-Nakagiri, Yoriko, McMillan, James, Sawamura, Daisuke and Shimizu, Hiroshi (2007) Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes. Experimental Dermatology, 16 11: 920-926. doi:10.1111/j.1600-0625.2007.00614.x 50   27 Cited 31 times in Scopus31 3
Akiyama, Masashi, Sugiyama-Nakagiri, Yoriko, Sakai, Kaori, McMillan, James R., Goto, Maki, Arita, Ken, Tsuji-Abe, Yukiko, Tabata, Nobuko, Matsuoka, Kentaro, Sasaki, Rikako, Sawamura, Daisuke and Shimizu, Hiroshi (2005) Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. Journal of Clinical Investigation, 115 7: 1777-1784. doi:10.1172/JCI24834 58   162 Cited 179 times in Scopus179 4
Akiyama, Masashi, Sakai, Kaori, Ogawa, Masaya, McMillan, James R., Sawamura, Daisuke and Shimizu, Hiroshi (2007) Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. Muscle and Nerve, 36 6: 856-859. doi:10.1002/mus.20869 60   49 Cited 55 times in Scopus55 0
Natsuga, Ken, Nishie, Wataru, Akiyama, Masashi, Nakamura, Hideki, Shinkuma, Satoru, McMillan, James R., Nagasaki, Akari, Has, Cristina, Ouchi, Takeshi, Ishiko, Akira, Hirako, Yoshiaki, Owaribe, Katsushi, Sawamura, Daisuke, Bruckner-Tuderman, Leena and Shimizu, Hiroshi (2010) Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. Human Mutation, 31 3: 308-316. doi:10.1002/humu.21189 59   19 Cited 21 times in Scopus21 0
Sawamura, Daisuke, Goto, Maki, Sakai, Kaori, Nakamura, Hideki, McMillan, James R., Akiyama, Masashi, Shirado, Osamu, Oyama, Noritaka, Satoh, Masataka, Kaneko, Fumio, Takahashi, Toshiaki, Konno, Hidehiko and Shimizu, Hiroshi (2007) Possible involvement of Exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1. Journal of Investigative Dermatology, 127 6: 1537-1540. doi:10.1038/sj.jid.5700707 59   8 Cited 9 times in Scopus9 0
McMillan, James R., Akiyama, Masashi, Tanaka, Masaru, Yamamoto, Sadaki, Goto, Maki, Abe, Riichiro, Sawamura, Daisuke, Shimomura, Masatsugu and Shimizu, Hiroshi (2007) Small-diameter porous poly (ɛ-cprolactone) films enhance adhesion and growth of human cultured epidermal keratinocyte and dermal fibroblast cells. Tissue Engineering, 13 4: 789-798. doi:10.1089/ten.2006.0321 64   17 Cited 22 times in Scopus22 0
Goto, Maki, Sawamura, Daisuke, Nishie, Wataru, Sakai, Kaori, McMillan, James R., Akiyama, Masashi and Shimizu, Hiroshi (2006) Targeted skipping of a single exon harboring a premature termination codon mutation: Implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. Journal of Investigative Dermatology, 126 12: 2614-2620. doi:10.1038/sj.jid.5700435 53   21 Cited 24 times in Scopus24 0
McMillan, James R., Akiyama, Masashi and Shimizu, Hiroshi (2003) Ultrastructural orientation of Laminin 5 in the epidermal basement membrane: An updated model for basement membrane organization. Journal of Histochemistry and Cytochemistry, 51 10: 1299-1306. 70   19 Cited 21 times in Scopus21