A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5
Author:
Publisher
John Libbey Eurotext
Subject
Dermatology
Link
https://link.springer.com/content/pdf/10.1684/ejd.2018.3221.pdf
Reference9 articles.
1. Grall A, Guaguere E, Planchais S, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012; 44: 140–7.
2. Zimmer AD, Kim GJ, Hotz A, et al. 16 novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function. Br J Dermatol 2017; 177: 445–55.
3. Boyden LM, Craiglow BG, Hu RH, et al. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. Br J Dermatol 2017; 177: 319–22.
4. Ohno Y, Kamiyama N, Nakamichi S, et al. PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide. Nat Commun 2017; 8: 14610.
5. Hirabayashi T, Anjo T, Kaneko A, et al. PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis. Nat Commun 2017; 8: 14609.
Cited by 3 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. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis;Metabolites;2022-07-26
2. Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance;Molecular Syndromology;2021
3. The role of PNPLA1 in ω-O-acylceramide synthesis and skin barrier function;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2019-06
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