The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree-Reference-Cited by-同舟云学术

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The c.323 G>C mutation in LORICRIN causes new-found late-onset autosomal dominant loricrin keratoderma in a Chinese Han Pedigree

Published:2022-04 Issue:1 Volume:106 Page:37-44
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Gao Xiaojie,Li Hua,Zhao Songhua,Li Xiabin,Zhao Jiao,Long Yang,Zhang Jun,Liao Yongmei,Li Shengbiao,Guo Kai,Yi Jingyan,Chen Shaokun,Ma Mingyi

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference27 articles.

1. The cornified envelope: a model of cell death in the skin;Candi;Nat. Rev. Mol. Cell Biol.,2005

2. Loricrin - an overview;Nithya;J. Oral. Maxillofac. Pathol.: JOMFP,2015

3. Skin barrier and calcium;Lee;Ann. Dermatol.,2018

4. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome;Maestrini;Nat. Genet,1996

5. Expression of wild-type, but not mutant, loricrin causes programmed cell death in HaCaT keratinocytes;Yoneda;J. Dermatol.,2010

Cited by 1 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. The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology;International Journal of Molecular Sciences;2023-05-29

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