A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2012.10861.x/fullpdf
Reference31 articles.
1. Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression;Zlotogorski;Exp Dermatol,1998
2. Endocrine controls of keratin expression;Ramot;Bioessays,2009
3. The molecular genetics of keratin disorders;Smith;Am J Clin Dermatol,2003
4. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions;Schaffer;J Invest Dermatol,2006
5. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis;Zlotogorski;J Invest Dermatol,2006
Cited by 15 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. Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family;Anais Brasileiros de Dermatologia;2024-07
2. Hypotrichosis and Hair Loss on the Occipital Scalp;Cutis;2023-09
3. The transcriptome analysis of cleft lip/palate-related PTCH1 variants in GMSM-K cells show carcinogenic potential;BIOCELL;2023
4. Characteristics and Expression Profile of KRT71 Screened by Suppression Subtractive Hybridization cDNA Library in Curly Fleece Chinese Tan Sheep;DNA and Cell Biology;2017-07
5. Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene;Journal of the European Academy of Dermatology and Venereology;2017-06-01
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