Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris

Diagnostic Features of Atopic Dermatitis

Jon M. Hanifin, Georg Rajka · Acta Dermato Venereologica · 1980 · 5.1K citations · Full text

Abstract Algebra, Allergy, Atopic Dermatitis +9

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

Alan D. Irvine, Ana Terron-Kwiatkowski, Yiwei Zhao et al. · Nature Genetics · 2006 · 2.9K citations

Major Predisposing Factor, Common Loss-of-function Variants, Atopic Dermatitis +8

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Frances J.D. Smith, Alan D. Irvine, Ana Terron-Kwiatkowski et al. · Nature Genetics · 2006 · 1K citations

Biology, Mendelian Disorder, Genetic Disorder +10

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Aileen Sandilands, Ana Terron-Kwiatkowski, Peter Hull et al. · Nature Genetics · 2007 · 660 citations

Allergy, Atopic Dermatitis, Genetic Disorder +11

Genes Encoding Structural Proteins of Epidermal Cornification and S100 Calcium-Binding Proteins Form a Gene Complex (“Epidermal Differentiation Complex”) on Human Chromosome 1q21

Dietmar Mischke, Bernhard Korge, Ingo Marenholz et al. · Journal of Investigative Dermatology · 1996 · 501 citations · Full text

Chromatin, Genetics, Gene Complex +9