Search Results - "Jitsukawa, Orie"

Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency by Haneda, Takashi, Imai, Yasutomo, Uchiyama, Ryosuke, Jitsukawa, Orie, Yamanishi, Kiyofumi

“…Mutations of the transglutaminase 1 gene (TGM1) are a major cause of autosomal recessive congenital ichthyoses (ARCIs) that are associated with defects in skin…”
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Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene by Suga, Yasushi, Tsuda, Tatsuya, Nagai, Makoto, Sakaguchi, Yoshiko, Jitsukawa, Orie, Yamamoto, Masaaki, Hitomi, Kiyotaka, Yamanishi, Kiyofumi

“…We report a case of a 12‐year‐old boy who was born as a collodion baby after which thick scales developed on his entire body surface. His younger brother…”
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Expression of IL-33 in ocular surface epithelium induces atopic keratoconjunctivitis with activation of group 2 innate lymphoid cells in mice by Imai, Yasutomo, Hosotani, Yuka, Ishikawa, Hiroto, Yasuda, Koubun, Nagai, Makoto, Jitsukawa, Orie, Gomi, Fumi, Nakanishi, Kenji, Yoshimoto, Tomohiro, Nakamura, Takahiro, Yamanishi, Kiyofumi

“…In a transgenic mouse line hK14mIL33tg, with the expression of interleukin-33 (IL-33) driven by a keratin 14 promoter, keratoconjunctivitis developed…”
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Molecular signatures for antimicrobial and innate defense responses activated in skin with transglutaminase 1 deficiency by Imai, Yasutomo, Haneda, Takashi, Uchiyama, Ryosuke, Jitsukawa, Orie, Yamanishi, Kiyofumi

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A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin by Kusakabe, Minori, Nagai, Makoto, Nakano, Eiji, Jitsukawa, Orie, Nishigori, Chikako, Yamanishi, Kiyofumi

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Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing by Nagai, Makoto, Nagai, Hiroshi, Tominaga, Chiharu, Sakaguchi, Yoshiko, Jitsukawa, Orie, Ohgo, Noriko, Nishigori, Chikako, Yamanishi, Kiyofumi

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ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay by Inoue, Yukako, Yamamoto, Masaaki, Sakaguchi, Yoshiko, Jitsukawa, Orie, Hayano, Katsunori, Yamane, Masayuki, Sakamoto, Michiko, Yamanishi, Kiyofumi

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