Recurrent splice-site mutation in MBTPS2underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Recurrent splice-site mutation in MBTPS2underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient

Published:2013-12-07 Issue:2 Volume:39 Page:158-161
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Wang H. J.¹²,Tang Z. L.³,Lin Z. M.¹,Dai L. L.⁴,Chen Q.¹,Yang Y.¹²

Affiliation:

1. Department of Dermatology; Peking University First Hospital; Beijing China

2. Peking-Tsinghua Center for Life Sciences; Beijing China

3. Department of Dermatology; The Affiliated Hospital of Qingdao University Medical College; Qingdao China

4. BGI-Shenzhen; Shenzhen China

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12248/fullpdf

Reference9 articles.

1. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia;Lin;Am J Hum Genet,2012

2. Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome;Oeffner;Exp Dermatol,2011

3. Sterol-regulated release of SREBP-2 from cell membranes requires two sequential cleavages, one within a transmembrane segment;Sakai;Cell,1996

4. 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

5. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2;Aten;Hum Mutat,2010

Cited by 26 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 gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts;British Journal of Dermatology;2024-07-15

2. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

3. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report;Clinical, Cosmetic and Investigational Dermatology;2023-12

4. A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism;Genes & Genetic Systems;2023-08-01

5. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2;Revista Paulista de Pediatria;2023

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