Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis

Published:2016-08-29 Issue:7 Volume:44 Page:841-843
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Nakajima Kimiko¹,Ishiguro Mayuko¹,Shiohama Aiko²³,Kubo Akiharu³,Sano Shigetoshi¹

Affiliation:

1. Department of Dermatology; Kochi Medical School; Kochi University; Kochi Japan

2. KOSÉ Endowed Program for Skin Care and Allergy Prevention; Keio University School of Medicine; Tokyo Japan

3. Department of Dermatology; Keio University School of Medicine; Tokyo Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.13556/fullpdf

Reference5 articles.

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

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

3. New and recurrent SERPINB7 mutations in seven Chinese patients with Nagashima-type palmoplantar keratosis;Yin;J Invest Dermatol,2014

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

5. Identification and characterization of a recessive missense mutation p. P277L in SERPINB7 in Nagashima-type palmoplantar keratosis;Shiohama;J Invest Dermatol,2016

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma;Journal of the European Academy of Dermatology and Venereology;2023-09-22

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

3. Two novel mutations of SERPINB7 in eight cases of Nagashima‐type palmoplantar keratosis in the Chinese population;The Journal of Dermatology;2022-02-17

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

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

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3