Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
By F. Smith, A. Irvine, A. Terron-Kwiatkowski, A. Sandilands, L. Campbell, Yiwei Zhao, H. Liao, A. Evans, D. Goudie, S. Lewis-jones and 10 more. Nature Genetics, 2006
1,034 citations recorded by the source corpus.
Subfields: Cell Biology, Molecular Biology, Urology
View Paper: https://www.semanticscholar.org/paper/a646b454ba735df515ae5fd44327e2eb45bedd9f
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- A. Irvine
- A. Sandilands
- M. J. Cork
- W. McLean
- C. Sutherland
- S. Danby
- C. Palmer
- A. Terron-Kwiatkowski
Citations in the corpus
- Filaggrin in the frontline: role in skin barrier function and disease (2009, background): “The term ‘filaggrin’ (derived from ‘filament-aggregating protein’) was first coined in 1981 to describe a class of structural protein that had been isolated from the stratum corneum (Steinert et al., 1981).”
- Epidermal barrier dysfunction in atopic dermatitis. (2009, background): “Notably, mutations of the FLG gene were primarily identified as the cause of ichthyosis vulgaris, which often occurs concomitantly with AD (Smith et al., 2006).”
- Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema (2007, neutral): “dtd" [ ]> We recently reported two common filaggrin ( FLG ) null mutations that cause ichthyosis vulgari”
- Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis (2006, background): “8 ), we recently identified two filaggrin mutations, R501X and 2282del4, both of which lead to complete loss of processed filaggrin produc”
- Control of somatic tissue differentiation by the long non-coding RNA TINCR (2012, neutral): “For secondary structure analysis, the following TINCR radiolabelled RT primers were used: (1) 59-CCTTGATGTGGTAGCGCTTCCAGCGC-39; (2) 59-AGACA GGGCACCCAGGGCCCCAAGAGG-39; (3) 59-TGTCCTGGGCAAGAGCGGA AGTGCCTC-39; (4) 59-AAAGCAGCTCCAGCAGGTCTGCCTGCCG-39; (5) 59-GGGCACACAGTGGGTCTCTGGGGACAAAG-39; (6) 59-TACT”