Filaggrin Gene Mutations with Special Reference to Atopic Dermatitis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Medicine (miscellaneous),Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s40521-020-00271-x.pdf
Reference61 articles.
1. •• Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38(3):337–42 Landmark study that demonstrated the association of FLG LOF mutations with ichthyosis vulgaris.
2. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 2006;38(4):441–446. Landmark study that demonstrated the association of common FLG LOF mutations with eczema/AD.
3. • Rodríguez E, Baurecht H, Herberich E, Wagenpfeil S, Brown SJ, Cordell HJ, et al. Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. J Allergy Clin Immunol. 2009;123(6):1361–70.e7. https://doi.org/10.1016/j.jaci.2009.03.036 Meta-analysis that demonstrated the strong association of FLG LOF mutations with eczema/AD and asthma in the context of AD.
4. •• Bin L, Leung DY. Genetic and epigenetic studies of atopic dermatitis. Allergy Asthma Clin Immunol. 2016;12:52 Review that summarizes the role of different biological mechanisms in the pathogenesis of AD.
5. Sandilands A, Sutherland C, Irvine AD, McLean WH. Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci. 2009;122(Pt 9):1285–94. https://doi.org/10.1242/jcs.033969.
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