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Kaori Sakai

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Y Nomura; Y Ohguchi; Kaori Sakai; K Sasaki; R Abe; Masashi Akiyama; S Aoyagi; H Hata; Y Itaya; O Mizuno; T Nomura; Hiroshi Shimizu
A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.
Kaori Sasaki; Megumi Sato; Masashi Akiyama; Yuki Miyamura; Kaori Sakai; Teruki Yanagi; Hiroshi Shimizu
CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.
Teruki Yanagi; Shinya Tanaka; Masashi Akiyama; Yuki Miyamura; Hiroshi Nishihara; Kaori Sakai; Hiroshi Shimizu
AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes.

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All Publications

2013: Y Nomura; Y Ohguchi; Kaori Sakai; K Sasaki; R Abe; Masashi Akiyama; S Aoyagi; H Hata; Y Itaya; O Mizuno; T Nomura; Hiroshi Shimizu
A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.
The British journal of dermatology 2013;168(1):206-9.
2012: Kaori Sasaki; Megumi Sato; Masashi Akiyama; Yuki Miyamura; Kaori Sakai; Teruki Yanagi; Hiroshi Shimizu
CYP4F22 is highly expressed at the site and timing of onset of keratinization during skin development.
Journal of dermatological science 2012;65(2):156-8.
2011: Teruki Yanagi; Shinya Tanaka; Masashi Akiyama; Yuki Miyamura; Hiroshi Nishihara; Kaori Sakai; Hiroshi Shimizu
AKT has an anti-apoptotic role in ABCA12-deficient keratinocytes.
The Journal of investigative dermatology 2011;131(9):1942-5.
2011: Rinko Osawa; Masashi Akiyama; Kentaro Izumi; Hideyuki Ujiie; Kaori Sakai; Ikue Nemoto-Hasebe; Teruki Yanagi; H Koizumi; Hiroshi Shimizu
Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation.
Journal of the American Academy of Dermatology 2011;64(5):991-3.
2011: H Umemoto; Masashi Akiyama; T Yanagi; Kaori Sakai; Y Aoyama; A Oizumi; Y Suga; Y Kitagawa; Hiroshi Shimizu
New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.
Journal of dermatological science 2011;61(2):136-9.
2010: Kaori Sakai; Masashi Akiyama; Teruki Yanagi; Sheela Nampoothiri; Tony Mampilly; V Sunitha; Hiroshi Shimizu
An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.
International journal of dermatology 2010;49(9):1031-3.
2010: Masashi Akiyama; Kaori Sakai; T Yanagi; N Tabata; M Yamada; Hiroshi Shimizu
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.
The British journal of dermatology 2010;163(1):201-4.
2010: Masashi Akiyama; Kaori Sakai; Teruki Yanagi; Satoshi Fukushima; Hironobu Ihn; Kiyotaka Hitomi; Hiroshi Shimizu
Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.
The American journal of pathology 2010;176(4):1592-9.
2009: Kei Ito; Daisuke Sawamura; Maki Goto; Hideki Nakamura; Wataru Nishie; Kaori Sakai; Ken Natsuga; Satoru Shinkuma; Akihiko Shibaki; Jouni Uitto; Christopher P Denton; Osamu Nakajima; Masashi Akiyama; Hiroshi Shimizu
Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.
The American journal of pathology 2009;175(6):2508-17.
2008: Masashi Akiyama; Kaori Sakai; Chitoshi Takayama; Teruki Yanagi; Yasuko Yamanaka; James R McMillan; Hiroshi Shimizu
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.
The American journal of pathology 2008;173(5):1349-60.
2008: Teruki Yanagi; Masashi Akiyama; Hiroshi Nishihara; Kaori Sakai; Wataru Nishie; Shinya Tanaka; Hiroshi Shimizu
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.
Human molecular genetics 2008;17(19):3075-83.
2008: Akiko Tsubota; Masashi Akiyama; Jean Kanitakis; Kaori Sakai; Toshifumi Nomura; Alain Claudy; Hiroshi Shimizu
Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.
The Journal of investigative dermatology 2008;128(7):1648-52.
2008: Toshifumi Nomura; Masashi Akiyama; Aileen Sandilands; Ikue Nemoto-Hasebe; Kaori Sakai; Akari Nagasaki; Mitsuhito Ota; Hiroo Hata; Alan T Evans; Colin N A Palmer; Hiroshi Shimizu; W H Irwin McLean
Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan.
The Journal of investigative dermatology 2008;128(6):1436-41.
2008: Teruki Yanagi; Masashi Akiyama; Kaori Sakai; Akari Nagasaki; Nobuaki Ozawa; Rika Kosaki; Haruhiko Sago; Hiroshi Shimizu
DNA-based prenatal exclusion of harlequin ichthyosis.
Journal of the American Academy of Dermatology 2008;58(4):653-6.
2007: Masashi Akiyama; Kaori Sakai; Masaya Ogawa; James R McMillan; Daisuke Sawamura; Hiroshi Shimizu
Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.
Muscle & nerve 2007;36(6):856-9.
2007: Kaori Sakai; Masashi Akiyama; Yoriko Sugiyama-Nakagiri; James R McMillan; Daisuke Sawamura; Hiroshi Shimizu
Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes.
Experimental dermatology 2007;16(11):920-6.
2007: 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
Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia.
The Journal of investigative dermatology 2007;127(11):2669-73.
2007: Yasuko Yamanaka; Masashi Akiyama; Yoriko Sugiyama-Nakagiri; Kaori Sakai; Maki Goto; James R McMillan; Mitsuhito Ota; Daisuke Sawamura; Hiroshi Shimizu
Expression of the keratinocyte lipid transporter ABCA12 in developing and reconstituted human epidermis.
The American journal of pathology 2007;171(1):43-52.
2007: Akiko Tsubota; Masashi Akiyama; Kaori Sakai; Maki Goto; Yukiko Nomura; Satomi Ando; Masataka Abe; Daisuke Sawamura; Hiroshi Shimizu
Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
The Journal of investigative dermatology 2007;127(6):1371-4.
2007: Wataru Nishie; Daisuke Sawamura; Maki Goto; Kei Ito; Akihiko Shibaki; James R McMillan; Kaori Sakai; Hideki Nakamura; Edit B Olasz; Kim B Yancey; Masashi Akiyama; Hiroshi Shimizu
Humanization of autoantigen.
Nature medicine 2007;13(3):378-83.
2007: Masashi Akiyama; Matthias Titeux; Kaori Sakai; James R McMillan; Laure Tonasso; Patrick Calvas; Frederique Jossic; Alain Hovnanian; Hiroshi Shimizu
DNA-based prenatal diagnosis of harlequin ichthyosis and characterization of ABCA12 mutation consequences.
The Journal of investigative dermatology 2007;127(3):568-73.
2007: Toshifumi Nomura; Aileen Sandilands; Masashi Akiyama; Haihui Liao; Alan T Evans; Kaori Sakai; Mitsuhito Ota; Hisashi Sugiura; Kazuo Yamamoto; Hiroshi Sato; Colin N A Palmer; Frances J D Smith; W H Irwin McLean; Hiroshi Shimizu
Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis.
The Journal of allergy and clinical immunology 2007;119(2):434-40.
2007: Masashi Akiyama; Kaori Sakai; Toshihiro Sato; James R McMillan; Maki Goto; Daisuke Sawamura; Hiroshi Shimizu
Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis.
Dermatology (Basel, Switzerland) 2007;215(2):155-9.
2006: Maki Goto; Daisuke Sawamura; Wataru Nishie; Kaori Sakai; James R McMillan; Masashi Akiyama; Hiroshi Shimizu
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.
The Journal of investigative dermatology 2006;126(12):2614-20.
2006: Masashi Akiyama; Kaori Sakai; Yoriko Sugiyama-Nakagiri; Yasuko Yamanaka; James R McMillan; Daisuke Sawamura; Hironori Niizeki; Sachiko Miyagawa; Hiroshi Shimizu
Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity.
The Journal of investigative dermatology 2006;126(7):1518-23.
2006: Maki Goto; Daisuke Sawamura; Kei Ito; Masataka Abe; Wataru Nishie; Kaori Sakai; Akihiko Shibaki; Masashi Akiyama; Hiroshi Shimizu
Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa.
The Journal of investigative dermatology 2006;126(4):766-72.
2006: Daisuke Sawamura; Kazuko C Sato-Matsumura; Satoko Shibata; Akari Tashiro; masutaka furue; Maki Goto; Kaori Sakai; Masashi Akiyama; Hideki Nakamura; Hiroshi Shimizu
COL7A1 mutation G2037E causes epidermal retention of type VII collagen.
Journal of human genetics 2006;51(5):418-23.
2005: Masashi Akiyama; Yoriko Sugiyama-Nakagiri; Kaori Sakai; James R McMillan; Maki Goto; Ken Arita; Yukiko Tsuji-Abe; Nobuko Tabata; Kentaro Matsuoka; Rikako Sasaki; Daisuke Sawamura; Hiroshi Shimizu
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.
The Journal of clinical investigation 2005;115(7):1777-84.