論文 - 佐々木　貴史

A homozygous nonsense mutation in the gene for Tmem79, a component for the lamellar granule secretory system, produces spontaneous eczema in an experimental model of atopic dermatitis

Sasaki, Takashi, Shiohama, Aiko, Kubo, Akiharu, Kawasaki, Hiroshi, Ishida-Yamamoto, Akemi, Yamada, Taketo, Hachiya, Takayuki, Shimizu, Atsushi, Okano, Hideyuki, Kudoh, Jun, Amagai, Masayuki

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY 132 （ 5 ） 1111 - + 2013年11月

研究論文（学術雑誌）,  ISSN  0091-6749

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Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

Kubo, Akiharu, Shiohama, Aiko, Sasaki, Takashi, Nakabayashi, Kazuhiko, Kawasaki, Hiroshi, Atsugi, Toru, Sato, Showbu, Shimizu, Atsushi, Mikami, Shuji, Tanizaki, Hideaki, Uchiyama, Masaki, Maeda, Tatsuo, Ito, Taisuke, Sakabe, Jun-ichi, Heike, Toshio, Okuyama, Torayuki, Kosaki, Rika, Kosaki, Kenjiro, Kudoh, Jun, Hata, Kenichiro, Umezawa, Akihiro, Tokura, Yoshiki, Ishiko, Akira, Niizeki, Hironori, Kabashima, Kenji, Mitsuhashi, Yoshihiko, Amagai, Masayuki

AMERICAN JOURNAL OF HUMAN GENETICS 93 （ 5 ） 945 - 956 2013年11月

研究論文（学術雑誌）,  ISSN  0002-9297

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Human Induced Pluripotent Stem Cell-Derived Ectodermal Precursor Cells Contribute to Hair Follicle Morphogenesis In Vivo

Veraitch, Ophelia, Kobayashi, Tetsuro, Imaizumi, Yoichi, Akamatsu, Wado, Sasaki, Takashi, Yamanaka, Shinya, Amagai, Masayuki, Okano, Hideyuki, Ohyama, Manabu

JOURNAL OF INVESTIGATIVE DERMATOLOGY 133 （ 6 ） 1479 - 1488 2013年06月

研究論文（学術雑誌）,  ISSN  0022-202X

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Characterization of canine filaggrin: gene structure and protein expression in dog skin

Kanda, Satoko, Sasaki, Takashi, Shiohama, Aiko, Nishifuji, Koji, Amagai, Masayuki, Iwasaki, Toshiroh, Kudoh, Jun

VETERINARY DERMATOLOGY 24 （ 1 ） 25 - + 2013年02月

研究論文（学術雑誌）,  ISSN  0959-4493

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Dpysl4 is involved in tooth germ morphogenesis through growth regulation, polarization and differentiation of dental epithelial cells

Yasukawa, M., Ishida, K., Yuge, Y., Hanaoka, M., Minami, Y., Ogawa, M., Sasaki, T., Saito, M. and Tsuji, T.

Int J Biol Sci 9 （ 4 ） 382 - 90 2013年

ISSN  1449-2288

　概要を見る

Dihydropyrimidinase-related protein 4 (Dpysl4) is a known regulator of hippocampal neuron development. Here, we report that Dpysl4 is involved in growth regulation, polarization and differentiation of dental epithelial cells during tooth germ morphogenesis. A reduction in Dpysl4 gene expression in the tooth germ produced a loss of ameloblasts, resulting in the decrease of synthesis and secretion of enamel. The inhibition of Dpysl4 gene expression led to promotion of cell proliferation of inner enamel epithelial cells and inhibition of the differentiation of these cells into pre-ameloblasts, which was confirmed by analyzing cell polarization, columnar cell structure formation and the expression of ameloblast marker genes. By contrast, overexpression of Dpysl4 in dental epithelial cells induces inhibition of growth and increases the expression of the inner enamel epithelial cell marker gene, Msx2. These findings suggest that Dpysl4 plays essential roles in tooth germ morphogenesis through the regulation of dental epithelial cell proliferation, cell polarization and differentiation.

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アトピー生皮膚炎の皮膚バリアからみた病態

雅行, 佐々木　貴史、天谷

臨床免疫・アレルギー科 60(3)   276 - 281 2013年

Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population

Hirota, Tomomitsu, Takahashi, Atsushi, Kubo, Michiaki, Tsunoda, Tatsuhiko, Tomita, Kaori, Sakashita, Masafumi, Yamada, Takechiyo, Fujieda, Shigeharu, Tanaka, Shota, Doi, Satoru, Miyatake, Akihiko, Enomoto, Tadao, Nishiyama, Chiharu, Nakano, Nobuhiro, Maeda, Keiko, Okumura, Ko, Ogawa, Hideoki, Ikeda, Shigaku, Noguchi, Emiko, Sakamoto, Tohru, Hizawa, Nobuyuki, Ebe, Koji, Saeki, Hidehisa, Sasaki, Takashi, Ebihara, Tamotsu, Amagai, Masayuki, Takeuchi, Satoshi, Furue, Masutaka, Nakamura, Yusuke, Tamari, Mayumi

NATURE GENETICS 44 （ 11 ） 1222 - 1226 2012年11月

研究論文（学術雑誌）,  ISSN  1061-4036

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Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis

Sasaki, Takashi, Niizeki, Hironori, Shimizu, Atsushi, Shiohama, Aiko, Hirakiyama, Asami, Okuyama, Torayuki, Seki, Atsuhito, Kabashima, Kenji, Otsuka, Atsushi, Ishiko, Akira, Tanese, Keiji, Miyakawa, Shun-ichi, Sakabe, Jun-ichi, Kuwahara, Masamitsu, Amagai, Masayuki, Okano, Hideyuki, Suematsu, Makoto, Kudoh, Jun

JOURNAL OF DERMATOLOGICAL SCIENCE 68 （ 1 ） 36 - 44 2012年10月

研究論文（学術雑誌）,  ISSN  0923-1811

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Restoration of the intrinsic properties of human dermal papilla in vitro

Ohyama, Manabu, Kobayashi, Tetsuro, Sasaki, Takashi, Shimizu, Atsushi, Amagai, Masayuki

JOURNAL OF CELL SCIENCE 125 （ 17 ） 4114 - 4125 2012年09月

研究論文（学術雑誌）,  ISSN  0021-9533

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Variants of C-C Motif Chemokine 22 (CCL22) Are Associated with Susceptibility to Atopic Dermatitis: Case-Control Studies

Hirota, Tomomitsu, Saeki, Hidehisa, Tomita, Kaori, Tanaka, Shota, Ebe, Kouji, Sakashita, Masafumi, Yamada, Takechiyo, Fujieda, Shigeharu, Miyatake, Akihiko, Doi, Satoru, Enomoto, Tadao, Hizawa, Nobuyuki, Sakamoto, Tohru, Masuko, Hironori, Sasaki, Takashi, Ebihara, Tamotsu, Amagai, Masayuki, Esaki, Hitokazu, Takeuchi, Satoshi, Furue, Masutaka, Noguchi, Emiko, Kamatani, Naoyuki, Nakamura, Yusuke, Kubo, Michiaki, Tamari, Mayumi

PLOS ONE 6 （ 11 ） 25 - + 2011年11月

研究論文（学術雑誌）,  ISSN  1932-6203

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Transgenic rescue of desmoglein 3 null mice with desmoglein 1 to develop a syngeneic mouse model for pemphigus vulgaris

Hata, Tsuyoshi, Nishifuji, Koji, Shimoda, Kouji, Sasaki, Takashi, Yamada, Taketo, Nishikawa, Takeji, Koyasu, Shigeo, Amagai, Masayuki

JOURNAL OF DERMATOLOGICAL SCIENCE 63 （ 1 ） 33 - 39 2011年07月

研究論文（学術雑誌）,  ISSN  0923-1811

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Loss-of-function mutations within the filaggrin gene and atopic dermatitis

Kawasaki, H., Kubo, A., Sasaki, T. and Amagai, M.

Curr Probl Dermatol 41   35 - 46 2011年

ISSN  1662-2944

　概要を見る

Atopic dermatitis (AD) is a chronic relapsing eczematous skin disorder that is frequently associated with elevated serum IgE levels and a personal or family history of AD, allergic rhinitis and/or asthma. Filaggrin is a major constituent of the stratum corneum (SC) and contributes to keratin filament aggregation. Its breakdown products form natural moisturizing factor, which plays a central role in hydration of the SC. Sequence analysis and epidemiological studies indicate that loss-of-function mutations in the filaggrin gene known to cause the autosomal dominant scaly skin disorder ichthyosis vulgaris are major genetic predisposing factors of AD. Mutations in filaggrin are also associated with atopic asthma. These findings established the 'filaggrin hypothesis,' which states that AD can be triggered by the chronic exposure of barrier-disrupted skin to percutaneous antigens due to abnormalities in filaggrin. In this chapter, we summarize the genome-wide screening of AD susceptibility loci, filaggrin biochemistry and recent epidemiological studies on filaggrin mutations and allergic diseases. We also summarize recent advances in the study of skin barrier mechanisms and filaggrin-associated skin barrier abnormalities in animal models. Taken together, these findings provide novel perspectives on the pathophysiology of AD and effective therapeutic methods for the treatment and/or prevention of AD through the modification of skin barrier dysfunction.

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アレルギー性皮膚疾患とバリア機能異常

雅行, 佐々木　貴史、天谷

小児科 52(6)   833 - 842 2011年

マルチプレックス法によるバクテリアゲノムのde novo DNA配列解読

貴史, 佐々木

細胞工学 30(8)   796 - 800 2011年

イヌゲノム解析の最前線ーヒト疾患遺伝子同定への新たなアプローチ

佐々木貴史、塩濱愛子、工藤純

実験医学 28(8)   1268 - 1274 2011年

次世代シーケンサーを使いこなす　目的別解析法からデータ処理まで

貴史, 清水　厚志、佐々木

細胞工学 30(8)   790 - 795 2011年

Retinoic acid signaling positively regulates liver specification by inducing wnt2bb gene expression in medaka

Negishi, T., Nagai, Y., Asaoka, Y., Ohno, M., Namae, M., Mitani, H., Sasaki, T., Shimizu, N., Terai, S., Sakaida, I., Kondoh, H., Katada, T., Furutani-Seiki, M. and Nishina, H.

Hepatology 51 （ 3 ） 1037 - 45 2010年03月

ISSN  1527-3350

　概要を見る

UNLABELLED: During vertebrate embryogenesis, the liver develops at a precise location along the endodermal primitive gut tube because of signaling delivered by adjacent mesodermal tissues. Although several signaling molecules have been associated with liver formation, the molecular mechanism that regulates liver specification is still unclear. We previously performed a screen in medaka to isolate mutants with impaired liver development. The medaka hio mutants exhibit a profound (but transient) defect in liver specification that resembles the liver formation defect found in zebrafish prometheus (prt) mutants, whose mutation occurs in the wnt2bb gene. In addition to their liver abnormality, hio mutants lack pectoral fins and die after hatching. Positional cloning indicated that the hio mutation affects the raldh2 gene encoding retinaldehyde dehydrogenase type2 (RALDH2), the enzyme principally responsible for retinoic acid (RA) biosynthesis. Mutations of raldh2 in zebrafish preclude the development of pectoral fins. Interestingly, in hio mutants, expression of wnt2bb in the lateral plate mesoderm (LPM) directly adjacent to the liver-forming endoderm was completely lost. CONCLUSION: Our data reveal the unexpected finding that RA signaling positively regulates the wnt2bb gene expression required for liver specification in medaka. These results suggest that a common molecular mechanism may underlie liver and pectoral fin specification during piscine embryogenesis.

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Ethylnitrosourea-induced thymus-defective mutants identify roles of KIAA1440, TRRAP, and SKIV2L2 in teleost organ development

Iwanami, N., Okada, M., Hoa, V. Q., Seo, Y., Mitani, H., Sasaki, T., Shimizu, N., Kondoh, H., Furutani-Seiki, M. and Takahama, Y.

Eur J Immunol 39 （ 9 ） 2606 - 16 2009年09月

ISSN  1521-4141

　概要を見る

The thymus is an organ where T lymphocytes develop. Thymus development requires interactions of cells derived from three germ layers. However, the molecular mechanisms that control thymus development are not fully understood. To identify the genes that regulate thymus development, we previously carried out a large-scale screening for ethylnitrosourea-induced mutagenesis using medaka, Oryzias latipes, and established a panel of recessive thymus-lacking mutants. Here we report the identification of three genes responsible for these mutations. We found that the mutations in KIAA1440, TRRAP, and SKIV2L2 caused the defects in distinct steps of thymus development. We also found that these genes were widely expressed in many organs and that the mutations in these genes caused defects in the development of various other organs. These results enabled us to identify previously unknown roles of widely expressed genes in medaka organ development. The possible reasons why thymus-defective teleost mutants could be used to identify widely expressed genes and future strategies to increase the likelihood of identifying genes that specifically regulate thymus development are discussed.

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The KK-Periome database for transcripts of periodontal ligament development

Saito, M., Nishida, E., Sasaki, T., Yoneda, T. and Shimizu, N.

J Exp Zool B Mol Dev Evol 312B （ 5 ） 495 - 502 2009年07月

ISSN  1552-5015

　概要を見る

The periodontal ligament (PDL) is a strong connective tissue that surrounds the tooth root, absorbs occlusal forces, and functions as a sense organ. PDL originated from dental follicle (DF), which possessed mesenchymal progenitors in the developing tooth germ. However, as specific marker genes for PDL and DF are currently unavailable, the molecular mechanisms of PDL development are yet to be clarified. To facilitate the identification of such genes, we have previously established a transcriptome database of the human PDL (the KK-Periome database) and screened for specific genes expressed during PDL development. Initial screening of the database revealed two marker genes for distinguishing DF and PDL. The KK-Periome database thus appears to offer a useful resource for investigating genes involved in PDL development.

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A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming

Fallon, Padraic G., Sasaki, Takashi, Sandilands, Aileen, Campbell, Linda E., Saunders, Sean P., Mangan, Niamh E., Callanan, John J., Kawasaki, Hiroshi, Shiohama, Aiko, Kubo, Akiharu, Sundberg, John P., Presland, Richard B., Fleckman, Philip, Shimizu, Nobuyoshi, Kudoh, Jun, Irvine, Alan D., Amagai, Masayuki, McLean, W. H. Irwin

NATURE GENETICS 41 （ 5 ） 602 - 608 2009年05月

研究論文（学術雑誌）,  ISSN  1061-4036

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