Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation inMBTPS2
Author:
Affiliation:
1. St John's Institute of Dermatology; King's College London (Guy's Campus); London UK
2. Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya Japan
3. Viapath; St Thomas' Hospital; London UK
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12587/fullpdf
Reference10 articles.
1. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response;Oeffner;Am J Hum Genet,2009
2. Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment;Sakai;Cell,1996
3. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2;Aten;Hum Mutat,2010
4. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome;Haghighi;J Invest Dermatol,2013
5. Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2;Bornholdt;Hum Mutat,2013
Cited by 14 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. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies;Journal of Dermatological Science;2023-12
2. Keratosis pilaris: an update and approach to management;Italian Journal of Dermatology and Venereology;2023-06
3. Cutaneous Unfolded Protein Response (UPR) and Endoplasmic Reticulum (ER) Stress;Handbook of Oxidative Stress in Cancer: Mechanistic Aspects;2022
4. Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum;Pediatric Dermatology;2021-03-19
5. Cutaneous Unfolded Protein Response (UPR) and Endoplasmic Reticulum (ER) Stress;Handbook of Oxidative Stress in Cancer: Mechanistic Aspects;2021
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