Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis-Reference-Cited by-同舟云学术

Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis

Published:2016-01 Issue:1 Volume:136 Page:325-328
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Shiohama Aiko,Sasaki Takashi,Sato Showbu,Sakabe Jun-ichi,Ito Taisuke,Isoda Hideka,Zenke Yukari,Nakano Toshiaki,Maeda Tatsuo,Ishiko Akira,Kabashima Kenji,Tokura Yoshiki,Mitsuhashi Yoshihiko,Amagai Masayuki,Kubo Akiharu

Funder

Ministry of Education

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference9 articles.

1. Serpin structure, mechanism, and function;Gettins;Chem Rev,2002

2. “Nagashima-type” keratosis palmoplantaris in two siblings;Isoda;J Eur Acad Dermatol Venereol,2009

3. “Nagashima-type” keratosis as a novel entity in the palmoplantar keratoderma category;Kabashima;Arch Dermatol,2008

4. Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency;Kubo;J Invest Dermatol,2014

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

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

2. Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma;British Journal of Dermatology;2022-12-01

3. Updated allele frequencies of SERPINB7 founder mutations in Asian patients with Nagashima-type palmoplantar keratosis/keratoderma;Journal of Dermatological Science;2021-08

4. Nagashima-Type Palmoplantar Keratosis: Clinical Characteristics, Genetic Characterization, and Clinical Management;BioMed Research International;2021-01-27

5. Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7;Case Reports in Dermatology;2020-11-17