Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

By C. Palmer, A. Irvine, A. Terron-Kwiatkowski, Yiwei Zhao, H. Liao, Simon P. Lee, D. Goudie, A. Sandilands, L. Campbell, F. Smith and 17 more. Nature Genetics, 2006

2,946 citations recorded by the source corpus.

Subfields: Dermatology, Immunology and Allergy

View Paper: https://www.semanticscholar.org/paper/8688d55c9823c59479cfa235340ecec66b240601

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Citations in the corpus

• Mapping complex disease traits with global gene expression (2009, background): “and FLG (filaggrin) mutations in eczema (atopic dermatitis”
• Guidelines of Care for the Management of Atopic Dermatitis Part 4: Prevention of Disease Flares and Use of Adjunctive Therapies and Approaches (2014, background): “FLG null mutations confer a risk for earlier-onset AD, and for more severe, persistent disease.(113,114) They also lead to an increased tendency for eczema herpeticum.”
• Guidelines for treatment of atopic eczema (atopic dermatitis) Part I (2012, background): “Filaggrin deficiency is the best defined anomaly, which gives rise to a deficiency in small water binding molecules resulting from normal filaggrin catabolism (Palmer et al. 2006).”
• Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis (2012, background): “Mutations in FLG, the gene encoding the skin barrier protein filaggrin, are associated with AD, particularly in patients who subsequently develop asthma and/or allergic rhinitis, suggesting that epicutaneous sensitization may contribute to atopic disease (Palmer et al. 2006; Sandilands et al. 2007).”
• New IBD genetics: common pathways with other diseases (2011, background): “106 Loss of function variants in FLG (Filaggrin) also predispose to atopic dermatitis.(107) In a Scottish panel of children with IBD (52% prevalence of coexistent atopy), FLGwas associated with eczema (and food allergy) but not with IBD susceptibility.”
• The JAK/STAT signaling pathway: from bench to clinic (2021, background): “The JAK/STAT pathway, as a cytokine-mediated signal transduction pathway, can exacerbate disease development.(294) For instance, IL-4 has a critical role in the pathogeny of atopic dermatitis.”
• The Atopic March: Progression from Atopic Dermatitis to Allergic Rhinitis and Asthma (2014, background): “The skin barrier function is impaired in AD as a consequence of multiple abnormalities responsible for the barrier defect including reduced lipids (ceramide and sphingosine) and abnormal keratinization due to dysfunctional filaggrin, a critical component in the cornified envelope formation [63-68].”
• Epidermal barrier dysfunction in atopic dermatitis. (2009, background): “In 2006, Palmer and colleagues first identified two such mutations within the FLG gene, which strongly predispose to AD (Palmer et al., 2006).”