Nanopore Long-Read Sequencing Solves the Conundrum of FLG Genetics.
作者信息
Bonilla Pedro S, de Guzman Strong Cristina
机构信息
Department of Medicine, College of Human Medicine, Michigan State University, Grand Rapids, Michigan, USA.
Center for Cutaneous Biology and Immunology, Department of Dermatology, Henry Ford Health, Detroit, Michigan, USA; Immunology Program, Henry Ford Cancer Institute, Henry Ford Health, Detroit, Michigan, USA; Department of Medicine, College of Human Medicine, Michigan State University, East Lansing, Michigan.
出版信息
J Invest Dermatol. 2024 Aug;144(8):1678-1680. doi: 10.1016/j.jid.2024.02.033. Epub 2024 Apr 22.
Abstract
摘要
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本文引用的文献
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A 25-year odyssey of genomic technology advances and structural variant discovery.基因组技术进步和结构变异发现的 25 年探索历程。
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Current understanding of epigenetics in atopic dermatitis.特应性皮炎中表观遗传学的研究现状。
Exp Dermatol. 2021 Aug;30(8):1150-1155. doi: 10.1111/exd.14392. Epub 2021 Jun 1.
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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.
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Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.在分子诊断环境中处理高度同源基因：临床下一代测序的资源
Genet Med. 2016 Dec;18(12):1282-1289. doi: 10.1038/gim.2016.58. Epub 2016 May 26.
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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.
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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.
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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.对丝聚合蛋白编码基因的全面分析揭示了寻常型鱼鳞病和特应性皮炎中常见及罕见的突变。
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