Art

J-GLOBAL ID：201802223441072624   Reference number：18A1121926

In-frame Val²¹⁶-Ser²¹⁷ deletion of KIT in mild piebaldism causes aberrant secretion and SCF response

軽度の限局性白皮症におけるKITのフレーム内Val²¹⁶-Ser²¹⁷欠失は異常分泌とSCF応答をもたらす

Author (14)： Hattori Mai (Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan) ,  Hattori Mai (Department of Dermatology, Japan Red Cross Maebashi Hospital, Maebashi, Japan) ,  Ishikawa Osamu (Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan) ,  Oikawa Daisuke (Department of Pathobiochemistry, Graduate School of Medicine, Osaka City University, Osaka, Japan) ,  Amano Hiroo (Department of Dermatology, Iwate Medical University, Morioka, Iwate, Japan) ,  Yasuda Masahito (Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan) ,  Kaira Kyoichi (Department of Oncology Clinical Development, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan) ,  Ishida-Yamamoto Akemi (Department of Dermatology, Asahikawa Medical University, Asahikawa, Hokkaido, Japan) ,  Nakano Hajime (Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan) ,  Sawamura Daisuke (Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan) ,  Terawaki Shin-ichi (Graduate School of Science and Technology, Gunma University, Kiryu, Gunma, Japan) ,  Wakamatsu Kaori (Graduate School of Science and Technology, Gunma University, Kiryu, Gunma, Japan) ,  Tokunaga Fuminori (Department of Pathobiochemistry, Graduate School of Medicine, Osaka City University, Osaka, Japan) ,  Shimizu Akira (Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan)
Material： Journal of Dermatological Science  (J Dermatol Sci)
Volume： 91  Issue： 1  Page： 35-42  Publication year： Jul. 2018 
JST Material Number： W1280A  ISSN： 0923-1811  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *depigmentation ,...
Semi thesaurus term： immunoassay ,...

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Author keywords (5)： Piebaldism ,  KIT gene ,  Endoplasmic reticulum ,  Heterodimerization ,  KIT signaling

JST classification (2)： Dermatlogic diagnosis  (GF02000J) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Terms in the title (7)： 軽度 ,  限局性白皮症 ,  KIT ,  欠失 ,  分泌 ,  SCF ,  応答