Recessive epidermolytic ichthyosis results from loss of keratin 10 expression, regardless of the mutation location
Author:
Affiliation:
1. Department of Dermatology; Tel-Aviv Sourasky Medical Center; Tel-Aviv Israel
2. Department of Human Molecular Genetics; Sackler Faculty of Medicine; Tel-Aviv University; Tel-Aviv Israel
Funder
European ERA-Net Research Program on Rare Diseases (E-Rare-2; Skindev)
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13324/fullpdf
Reference10 articles.
1. Keratins and skin disease;Knobel;Cell Tissue Res,2015
2. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009;Oji;J Am Acad Dermatol,2010
3. Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings;Bygum;Acta Derm Venereol,2013
4. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis;Muller;Hum Mol Genet,2006
5. Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation;Tsubota;J Invest Dermatol,2008
Cited by 13 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. Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort;Journal of the European Academy of Dermatology and Venereology;2024-05-13
3. A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms;International Journal of Molecular Sciences;2023-03-15
4. A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes;British Journal of Dermatology;2022-11-01
5. Genetic lessons learned from pathogenic variants in KRT1 ;Journal of the European Academy of Dermatology and Venereology;2022-09-15
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