Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations-Reference-Cited by-同舟云学术

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Impaired production of the skin barrier lipid acylceramide by CYP4F22 ichthyosis mutations

Published:2021-01 Issue:1 Volume:101 Page:69-71
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Nohara Tomohiro,Ohno Yusuke,Kihara Akio

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. Inherited ichthyosis: non-syndromic forms;Takeichi;J. Dermatol.,2016

2. Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides;Kihara;Prog. Lipid Res.,2016

3. Comparative profiling and comprehensive quantification of stratum corneum ceramides in humans and mice by LC/MS/MS;Kawana;J. Lipid Res.,2020

4. Essential role of the cytochrome P450 CYP4F22 in the production of acylceramide, the key lipid for skin permeability barrier formation;Ohno;Proc. Natl. Acad. Sci. U. S. A.,2015

5. Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases;Scott;J. Invest. Dermatol.,2013

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. Human genetic defects of sphingolipid synthesis;Journal of Inherited Metabolic Disease;2024-05-05

2. CYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis;Journal of the European Academy of Dermatology and Venereology;2023-12-07

3. Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies;Journal of Lipid Research;2022-12

4. Impaired production of skin barrier lipid acylceramides and abnormal localization of PNPLA1 due to ichthyosis-causing mutations in PNPLA1;Journal of Dermatological Science;2022-08

5. THE CONCISE GUIDE TO PHARMACOLOGY 2021/22: Enzymes;British Journal of Pharmacology;2021-09-16

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