Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
By A. Sandilands, A. Terron-Kwiatkowski, P. Hull, G. O’Regan, T. Clayton, R. Watson, Thomas Carrick, A. Evans, H. Liao, Yiwei Zhao and 15 more. Nature Genetics, 2007
674 citations recorded by the source corpus.
Subfields: Dermatology, Immunology and Allergy
View Paper: https://www.semanticscholar.org/paper/b261b31f180b4c3c991c9720f996d98a807d8585
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In Dermatology
Citations in the corpus
- A diversity profile of the human skin microbiota. (2008, background): “Filaggrin mutations have been demonstrated in ∼50% of patients with moderate to severe AD (Sandilands et al. 2007), and we are currently analyzing whether similar changes are found in human AD patients.”
- 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).”
- Epidermal barrier dysfunction in atopic dermatitis. (2009, background): “…have confirmed the association and found other null mutations within this gene that predispose to AD (Marenholz et al., 2006; Ruether et al., 2006; Sandilands et al., 2006, 2007; Weidinger et al., 2006, 2008; Barker et al., 2007; Hubiche et al., 2007; Morar et al., 2007; Nomura et al., 2007,…”
- Filaggrin in the frontline: role in skin barrier function and disease (2009, background): “Furthermore, filaggrin proteolysis after birth can be prevented by maintaining the newborn in a 100% humidity environment (Scott and Harding, 1986).”