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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
TLDR
It is shown that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis. Expand
Filaggrin mutations associated with skin and allergic diseases.
TLDR
The biology of this molecule and the role of mutations in its altered function offer new insights into a range of conditions not previously thought to be related to one another. Expand
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
TLDR
A meta-analysis of genome-wide association studies and independent data sets genotyped on the Immunochip identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals, and identified five independent signals within previously known loci. Expand
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
TLDR
A clear genotype--phenotype correlation can be recognized for EEC and AEC syndromes, where the p63 gene mutations have highly pleiotropic effects. Expand
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
TLDR
It is found that loss or reduction of this major structural protein, filaggrin, leads to varying degrees of impaired keratinization. Expand
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome
TLDR
A critical role of SPINK5 in epidermal barrier function and immunity is disclosed, and a new pathway for high serum IgE levels and atopic manifestations is suggested. Expand
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
TLDR
It is shown that the common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases are ancestral variants carried on conserved haplotypes, and a strategy for full sequencing of this large, highly repetitive gene is reported. Expand
Filaggrin in the frontline: role in skin barrier function and disease
TLDR
Recent human genetic studies strongly suggest that perturbation of skin barrier function as a result of reduction or complete loss of filaggrin expression leads to enhanced percutaneous transfer of allergens. Expand
Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlation
TLDR
Clinical, ultrastructural and molecular aspects of all the keratin diseases described to date are reviewed and potential future areas of research in this field are delineated. Expand
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
TLDR
These findings implicate pathways that integrate epidermal barrier dysfunction with innate and adaptive immune dysregulation in psoriasis pathogenesis and report compelling evidence for an interaction between the HLA-C and ERAP1 loci. Expand
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