Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma-Reference-Cited by-同舟云学术

Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma

Published:2021-08 Issue:2 Volume:103 Page:116-119
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Ito Yasutoshi,Takeichi Takuya,Ikeda Kenta,Tanahashi Kana,Yoshikawa Takenori,Murase Yuya,Muro Yoshinao,Kawakami Yoshio,Nakamura Yasuo,Matsuyama Kanako,Muto Jun,Oiso Naoki,Morizane Shin,Sugiura Kazumitsu,Suga Yasushi,Seishima Mariko,Kawada Akira,Ogi Tomoo,Akiyama Masashi

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference9 articles.

1. Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis;Kubo;Am. J. Hum. Genet.,2013

2. Three cases of Nagashima-type palmoplantar keratosis associated with atopic dermatitis: a diagnostic pitfall;Yamauchi;J. Dermatol.,2018

3. Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation;Hannula-Jouppi;J. Am. Acad. Dermatol.,2020

4. Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis;Mizuno;Br. J. Dermatol.,2014

5. Gentamicin-induced readthrough and nonsense-mediated mRNA decay of SERPINB7 nonsense mutant transcripts;Ohguchi;J. Invest. Dermatol.,2018

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1. SERPINB7 mutation causes Nagashima‐type palmoplantar keratosis and its spatiotemporal expression in zebrafish;Experimental Dermatology;2023-02-20

2. Nagashima‐type palmoplantar keratoderma: Case series and two novel variants;Pediatric Dermatology;2023-01-31

3. Investigation of Nagashima‐type palmoplantar keratoderma in China: A cross‐sectional study of 234 patients;The Journal of Dermatology;2022-11

4. Ceramide profiling of stratum corneum in Sjögren–Larsson syndrome;Journal of Dermatological Science;2022-09

5. Improvement of redness and hyperkeratosis in a case of Nagashima‐type palmoplantar keratosis during Tofacitinib treatment for ulcerative colitis;Journal of the European Academy of Dermatology and Venereology;2022-06-07