A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2009.09617.x/fullpdf
Reference15 articles.
1. Oji V Revised nomenclature and classification of inherited ichthyoses Results of the First Ichthyosis Consensus Conference 23 4
2. A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis;Chipev;Cell,1992
3. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis;Rothnagel;Science,1992
4. Keratins and skin disorders;Lane;J Pathol,2004
5. Towards a molecular description of intermediate filament structure and assembly;Parry;Exp Cell Res,2007
Cited by 11 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. Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis;The Journal of Dermatology;2024-07-29
2. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma;Clinical and Experimental Dermatology;2018-10-04
3. Loss of cathepsin C enhances keratinocyte proliferation and inhibits apoptosis;Science Bulletin;2016-07
4. A case of epidermolytic ichthyosis showing a very mild phenotype due to a novel tail extension mutation in KRT10;Journal of the European Academy of Dermatology and Venereology;2016-05-26
5. S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis;Journal of the European Academy of Dermatology and Venereology;2015-09-15
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