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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.2009.23 185   17 Cited 21 times in Scopus21 0
Kempf, Margit, Miyamura, Yuki, Liu, Pei-Yun, Chen, Alice C. -H., Nakamura, Hideki, Shimizu, Hiroshi, Tabata, Yasuhiko, Kimble, Roy M. and McMillan, James R. (2011) A denatured collagen microfiber scaffold seeded with human fibroblasts and keratinocytes for skin grafting. Biomaterials, 32 21: 4782-4792. doi:10.1016/j.biomaterials.2011.03.023 114   21 Cited 21 times in Scopus21 0
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 79   30 Cited 35 times in Scopus35 0
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 88   13 Cited 13 times in Scopus13 0
Wang, Gang, Ujiie, Hideyuki, Shibaki, Akihiko, Nishie, Wataru, Tateisgi, Yasuki, Kikuchi, Kazuhiro, Li, Qiang, McMillan, James R., Morioka, Hiroshi, Sawamura, Daisuke, Nakamura, Hideki and Shimizu, Hiroshi (2010) Blockade of autoantibody-initiated tissue damage by using recombinant fab antibody fragments against pathogenic autoantigen. American Journal of Pathology, 176 2: 914-925. doi:10.2353/ajpath.2010.090744 71   16 Cited 19 times in Scopus19 1
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 67   19 Cited 20 times in Scopus20 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 50   10 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 37   12 Cited 12 times in Scopus12 0
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 54   12 Cited 12 times in Scopus12 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 45   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 74   21 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 91   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 61   23 Cited 29 times in Scopus29 0
Yasukawa, Kana, Sawamura,, Daisuke, McMillan, James R., Nakamura, Hideki and Shimizu, Hiroshi (2002) Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly. Journal of Biological Chemistry, 277 26: 23670-23674. doi:10.1074/jbc.M200974200 52   33 Cited 37 times in Scopus37 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
Nakamura, Hiroyuki, Sawamura, Daisuke, Goto, Maki, Nakamura, Hideki, McMillan, James R., Park, Susam, Kono, Sumio, Hasegawa, Shiro, Paku, Son’e, Nakamura, Tomohiko, Ogiso, Yoshihumi and Shimizu, Hiroshi (2005) Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). Journal of Molecular Diagnostics, 7 1: 28-35. doi:10.1016/S1525-1578(10)60005-0 58   36 Cited 44 times in Scopus44 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 20 times in Scopus20 1
Tanimura, Shintaro, Tadokoro, Yuko, Inomata. Ken, Binh, Nguyen Thanh, Nishie, Wataru, Yamazaki, Satoshi, Nakauchi, Hiromitsu, Tanaka, Yoshio, McMillan, James R., Sawamura, Daisuke, Yancey, Kim, Shimizu, Hiroshi and Nishimura, Emi K. (2011) Hair follicle stem cells provide a functional niche for melanocyte stem cells. Cell Stem Cell, 82 2: 177-187. doi:10.1016/j.stem.2010.11.029 218 4 52 Cited 53 times in Scopus53 1
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 43   106 Cited 118 times in Scopus118 1
McMillan, James R., Matsumura, Tetsuri, Hashimoto, Takashi, Schumann, Hans and Shimizu , Hiroshi (2003) Immunomapping of EBA sera to multiple epitopes on collagen VII: further evidence that anchoring fibrils originate and terminate in the lamina densa. Experimental Dermatology, 12 3: 261-267. doi:10.1034/j.1600-0625.2003.120305.x 50   5 Cited 6 times in Scopus6 0
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 47   26 Cited 29 times in Scopus29 0
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 57   159 Cited 175 times in Scopus175 1
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 59   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 53   17 Cited 18 times in Scopus18 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 55   8 Cited 8 times in Scopus8 0
Chen, Alice C.-H., McNeilly, Celia, Liu, Ashley P.-Y., Flaim, Christopher J., Cuttle, Leila, Kendall, Mark, Kimble, Roy M., Shimizu, Hiroshi and McMillan, James R. (2011) Second harmonic generation and multiphoton microscopic detection of collagen without the need for species specific antibodies. Burns, 37 6: 1001-1009. doi:10.1016/j.burns.2011.03.013 85   7 Cited 8 times in Scopus8 1
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   16 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 52   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
Shinkuma, Satoru, McMillan, James R. and Shimizu, Hiroshi (2011) Ultrastructure and molecular pathogenesis of epidermolysis bullosa. Clinics in Dermatology, 29 4: 412-419. doi:10.1016/j.clindermatol.2011.01.010 6   7 Cited 9 times in Scopus9 0