Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants

Published:2021-06 Issue:6 Volume:141 Page:1596-1598
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Murase Chiaki^ORCID,Takeichi Takuya^ORCID,Nomura Toshifumi^ORCID,Ogi Tomoo^ORCID,Akiyama Masashi^ORCID

Funder

Research and Development

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference8 articles.

1. Hereditary mucoepithelial dysplasia: report of two sporadic cases;Hernández-Martín;Pediatr Dermatol,2012

2. Hereditary mucoepithelial dysplasia results from heterozygous variants at p.Arg557 mutational hotspot in SREBF1, encoding a transcription factor involved in cholesterol homeostasis;Morice-Picard;J Invest Dermatol,2020

3. Deep phenotyping of ichthyosis follicularis with atrichia and photophobia syndrome associated with MBTPS2 mutations;Murase;J Dermatol,2020

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. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter;Sato-Matsumura;Br J Dermatol,2000

Cited by 6 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. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

2. Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation;Cornea;2023-09-12

3. Hereditary Mucoepithelial Dysplasia;Genetic Syndromes;2023

4. An intronic splice‐site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome;The Journal of Dermatology;2022-12-20

5. Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management;Journal of the American Academy of Dermatology;2022-08

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