年別の研究成果
年別の研究成果
- 18 件
検索結果
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2022
Palmar whitish change after water exposure in a familial mild case of loricrin keratoderma (loricrin ichthyosis)
Saito, S., Tanaka, R., Ono, N., Umegaki-Arao, N., Sasaki, T., Aoki, S., Amagai, M. & Kubo, A., 2022 11月, In: Journal of Dermatology. 49, 11, p. e405-e406研究成果: Letter › 査読
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2021
Intragenic copy number variation in mouse epiplakin 1 (Eppk1) and the conservation of the repeat structures in the lower vertebrates
Ueo, D., Furuhashi, M., Sasaki, T., Kudo, J., Parry, D. A. D., Winter, D. J., Sasaki, T., Hashimoto, T., Tsuruta, D. & Fujiwara, S., 2021 9月, In: Journal of Dermatological Science. 103, 3, p. 186-189 4 p.研究成果: Letter › 査読
3 被引用数 (Scopus) -
2020
A nonepidermolytic keratinocytic epidermal naevus associated with a postzygotic mutation in the gene encoding epidermal growth factor receptor
Umegaki-Arao, N., Ono, N., Tanaka, R., Sasaki, T., Fujita, H., Shiohama, A., Aoki, S., Amagai, M. & Kubo, A., 2020 5月 1, In: British Journal of Dermatology. 182, 5, p. 1303-1305 3 p.研究成果: Letter › 査読
1 被引用数 (Scopus) -
Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky–Pudlak syndrome type 3
Saito, S., Tanaka, R., Sasaki, T., Aoki, S., Yasuhara, R., Nakayama, Y., Nagai, T., Sonobe, H., Ozawa, Y. & Kubo, A., 2020 1月 1, In: Journal of Dermatology. 47, 1, p. e18-e20研究成果: Letter › 査読
4 被引用数 (Scopus) -
2019
Case of Conradi–Hünermann–Happle syndrome due to a nonsense mutation of c.245G>A (p.W82*)
Satake, M., Kudo, K., Sasaki, T., Furue, M. & Kubo, A., 2019, In: Journal of Dermatology. 46, 8, p. e296-e298研究成果: Letter › 査読
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Novel gene mutations in Chédiak–Higashi syndrome with hyperpigmentation
Fukuchi, K., Tatsuno, K., Sakaguchi, K., Sano, S., Sasaki, T., Aoki, S., Kubo, A. & Tokura, Y., 2019 11月 1, In: Journal of Dermatology. 46, 11, p. e416-e418研究成果: Letter › 査読
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Recovery of FRI-5 carbapenemase at a Japanese hospital where FRI-4 carbapenemase was discovered
Uwamino, Y., Kubota, H., Sasaki, T., Kosaka, A., Furuhashi, M., Uno, S., Kudoh, J., Murata, M. & Hasegawa, N., 2019 11月 1, In: Journal of Antimicrobial Chemotherapy. 74, 11, p. 3390-3392 3 p.研究成果: Letter › 査読
5 被引用数 (Scopus) -
2018
A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B
Mukai, M., Fujita, H., Umegaki, N., Sasaki, T., Yasuda-Sekiguchi, F., Isojima, T., Kitanaka, S., Amagai, M. & Kubo, A., 2018 4月, In: Journal of Dermatological Science. 90, 1, p. 90-93 4 p.研究成果: Letter › 査読
3 被引用数 (Scopus) -
Intragenic copy number variation within human epiplakin 1 (EPPK1) generates variation of molecular size of epiplakin
Ishikawa, K., Furuhashi, M., Sasaki, T., Kudoh, J., Tsuchisaka, A., Hashimoto, T., Sasaki, T., Yoshioka, H., Eshima, N., Matsuda-Hirose, H., Sakai, T., Hatano, Y. & Fujiwara, S., 2018 8月, In: Journal of Dermatological Science. 91, 2, p. 228-231 4 p.研究成果: Letter › 査読
4 被引用数 (Scopus) -
Linear keratinocytic epidermal nevi on trunk skin caused by a somatic FGFR2 p.C382R mutation
Tanaka, R., Umegaki-Arao, N., Sasaki, T., Aoki, S., Yoshida, K., Niizeki, H. & Kubo, A., 2018 11月, In: Journal of Dermatology. 45, 11, p. e302-e303研究成果: Letter › 査読
3 被引用数 (Scopus) -
Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma
Fukunaga, Y., Kubo, A., Sasaki, T., Tsuruta, D. & Fukai, K., 2018 4月, In: Journal of Dermatology. 45, 4, p. e72-e73研究成果: Letter › 査読
1 被引用数 (Scopus) -
2017
Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5
Kumagai, Y., Umegaki, N., Sasaki, T., Nakamura, Y., Takahashi, H., Ashida, A., Tsunemi, Y., Kawashima, M., Shimizu, A., Ishiko, A., Nakamura, K., Tsuchihashi, H., Amagai, M. & Kubo, A., 2017 5月, In: Journal of the European Academy of Dermatology and Venereology. 31, 5, p. e241-e243研究成果: Letter › 査読
5 被引用数 (Scopus) -
Somatic HRAS p.G12S mosaic mutation causes unilaterally distributed epidermal nevi, woolly hair and palmoplantar keratosis
Honda, A., Umegaki, N., Sasaki, T., Nakabayashi, K., Hata, K., Matsubara, Y., Tanikawa, A., Amagai, M. & Kubo, A., 2017 6月, In: Journal of Dermatology. 44, 6, p. e109-e110研究成果: Letter › 査読
4 被引用数 (Scopus) -
2015
Case of non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation
Kasai, H., Sasaki, T., Matsuzaki, H., Yoshioka, T., Nagao, K., Amagai, M., Ishiko, A. & Kubo, A., 2015 3月 1, In: Journal of Dermatology. 42, 3, p. 323-325 3 p.研究成果: Letter › 査読
2 被引用数 (Scopus) -
Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa
Masunaga, T., Saito, M., Sasaki, T., Kubo, A., Amagai, M. & Ishiko, A., 2015 12月 1, In: Journal of Dermatological Science. 80, 3, p. 220-223 4 p.研究成果: Letter › 査読
2 被引用数 (Scopus) -
2014
A Japanese case of Mal de Meleda with SLURP1 mutation
Sakabe, J. I., Kabashima-Kubo, R., Kubo, A., Sasaki, T. & Tokura, Y., 2014 8月, In: Journal of Dermatology. 41, 8, p. 764-765 2 p.研究成果: Letter › 査読
6 被引用数 (Scopus) -
The complete type of pachydermoperiostosis: A novel nonsense mutation p.E141* of the SLCO2A1 gene
Niizeki, H., Shiohama, A., Sasaki, T., Seki, A., Kabashima, K., Otsuka, A., Kosaki, K., Ogo, A., Yamada, T., Miyasaka, M., Matsuoka, K., Hirakiyama, A., Okuyama, T., Matsuda, M., Nakabayashi, K., Tanese, K., Ishiko, A., Amagai, M. & Kudo, J., 2014 9月, In: Journal of Dermatological Science. 75, 3, p. 193-195 3 p.研究成果: Letter › 査読
20 被引用数 (Scopus) -
The novel SLCO2A1 heterozygous missense mutation p.E427K and nonsense mutation p.R603* in a female patient with pachydermoperiostosis with an atypical phenotype
Niizeki, H., Shiohama, A., Sasaki, T., Seki, A., Kabashima, K., Otsuka, A., Takeshita, M., Hirakiyama, A., Okuyama, T., Tanese, K., Ishiko, A., Amagai, M. & Kudoh, J., 2014, In: British Journal of Dermatology. 170, 5, p. 1187-1189 3 p.研究成果: Letter › 査読
16 被引用数 (Scopus)