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Associating filaggrin copy number variation and atopic dermatitis in African-Americans: Challenges and opportunities.

作者信息

Margolis David J, Mitra Nandita, Berna Ron, Hoffstad Ole, Kim Brian S, Yan Albert, Zaenglein Andrea L, Fuxench Zelma Chiesa, Quiggle Ashley M, de Guzman Strong Cristina, Wong Xuan Fei Colin Cornelius, Common John E

机构信息

Department of Biostatistics, Epidemiology and Informatics, Perlman School of Medicine, Philadelphia, PA, United States; Department of Dermatology, Perlman School of Medicine, Philadelphia, PA, United States; Department of Medicine, Division of Translational Medicine and Human Genetics, Perlman School of Medicine, Philadelphia, PA, United States.

Department of Biostatistics, Epidemiology and Informatics, Perlman School of Medicine, Philadelphia, PA, United States.

出版信息

J Dermatol Sci. 2020 Apr;98(1):58-60. doi: 10.1016/j.jdermsci.2020.01.014. Epub 2020 Jan 31.

DOI:10.1016/j.jdermsci.2020.01.014
PMID:32037100
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8778950/
Abstract
摘要

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本文引用的文献

1
Association of Filaggrin Loss-of-Function Variants With Race in Children With Atopic Dermatitis.特应性皮炎患儿中丝聚合蛋白功能丧失变异与种族的关联
JAMA Dermatol. 2019 Nov 1;155(11):1269-1276. doi: 10.1001/jamadermatol.2019.1946.
2
Tiled array-based sequencing identifies enrichment of loss-of-function variants in the highly homologous filaggrin gene in African-American children with severe atopic dermatitis.基于平铺式阵列的测序鉴定出在非裔美国儿童重度特应性皮炎中高度同源的丝聚合蛋白基因的功能丧失变异富集。
Exp Dermatol. 2018 Sep;27(9):989-992. doi: 10.1111/exd.13691. Epub 2018 Jun 28.
3
Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants.基于芯片的丝聚合蛋白基因测序用于全面检测疾病相关变异。
J Allergy Clin Immunol. 2018 Feb;141(2):814-816. doi: 10.1016/j.jaci.2017.10.001. Epub 2017 Oct 19.
4
Atopic Dermatitis Susceptibility Variants in Filaggrin Hitchhike Hornerin Selective Sweep.丝聚合蛋白中的特应性皮炎易感性变异在霍纳林选择性清除中搭便车。
Genome Biol Evol. 2016 Nov 11;8(10):3240-3255. doi: 10.1093/gbe/evw242.
5
Copy-number variation of the filaggrin gene in Korean patients with atopic dermatitis: what really matters, 'number' or 'variation'?韩国特应性皮炎患者中丝聚合蛋白基因的拷贝数变异：真正重要的是“数”还是“变异”？
Br J Dermatol. 2016 May;174(5):1098-100. doi: 10.1111/bjd.14287. Epub 2016 Jan 20.
6
Atopic dermatitis disease control and age: A cohort study.特应性皮炎的疾病控制与年龄：一项队列研究。
J Allergy Clin Immunol. 2015 Jul;136(1):190-192.e3. doi: 10.1016/j.jaci.2015.03.028. Epub 2015 Apr 30.
7
The multifunctional role of filaggrin in allergic skin disease.丝聚合蛋白在过敏性皮肤疾病中的多功能作用。
J Allergy Clin Immunol. 2013 Feb;131(2):280-91. doi: 10.1016/j.jaci.2012.12.668.
8
The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort.美国纵向队列中特应性皮炎和丝聚蛋白（FLG）突变的持续存在。
J Allergy Clin Immunol. 2012 Oct;130(4):912-7. doi: 10.1016/j.jaci.2012.07.008. Epub 2012 Aug 27.
9
One remarkable molecule: filaggrin.一个显著的分子：丝聚合蛋白。
J Invest Dermatol. 2012 Mar;132(3 Pt 2):751-62. doi: 10.1038/jid.2011.393. Epub 2011 Dec 8.
10
Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect.基因内丝聚合蛋白拷贝数变异导致特应性皮炎风险增加，且呈剂量依赖性效应。
J Invest Dermatol. 2012 Jan;132(1):98-104. doi: 10.1038/jid.2011.342. Epub 2011 Nov 10.