Browse by all authors Browse By Author Name - Sakai,+Kaori

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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.2009.23 190   19 Cited 23 times in Scopus23 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 106   13 Cited 13 times in Scopus13 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 77   22 Cited 23 times in Scopus23 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 64   23 Cited 30 times in Scopus30 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 45   112 Cited 125 times in Scopus125 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 52   28 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   163 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 57 times in Scopus57 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   9 Cited 9 times in Scopus9 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 56   21 Cited 24 times in Scopus24 0