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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.

DOI:10.1016/j.jid.2024.02.033
PMID:38647516
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11260527/
Abstract
摘要

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本文引用的文献

1
Nanopore Sequencing Enables Allelic Phasing of FLG Loss-of-Function Variants, Intragenic Copy Number Variation, and Methylation Status in Atopic Dermatitis and Ichthyosis Vulgaris.纳米孔测序可实现特应性皮炎和寻常型鱼鳞病中FLG功能丧失变体的等位基因分型、基因内拷贝数变异及甲基化状态分析。
J Invest Dermatol. 2024 Aug;144(8):1883-1886.e9. doi: 10.1016/j.jid.2024.01.020. Epub 2024 Feb 8.
2
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。
Cell. 2024 Feb 29;187(5):1024-1037. doi: 10.1016/j.cell.2024.01.002. Epub 2024 Jan 29.
3
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.
4
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.
5
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.
6
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.
7
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.
8
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。
Nat Genet. 2007 May;39(5):650-4. doi: 10.1038/ng2020. Epub 2007 Apr 8.
9
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.表皮屏障蛋白丝聚合蛋白常见的功能丧失变异是特应性皮炎的主要诱发因素。
Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19.
10
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.编码丝聚合蛋白的基因功能丧失性突变会导致寻常型鱼鳞病。
Nat Genet. 2006 Mar;38(3):337-42. doi: 10.1038/ng1743. Epub 2006 Jan 29.