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

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

Characterization of a class of cationic proteins that specifically interact with intermediate filaments.

Peter M. Steinert, J S Cantieri, D.C. Teller et al. · Proceedings of the National Academy of Sciences · 1981 · 322 citations · Full text

Protein Assembly, Molecular Biology, Cytoskeleton +17

Ichthyosis Vulgaris: Identification of a Defect in Synthesis of Filaggrin Correlated with an Absence of Keratohyaline Granules

Virginia P. Sybert, Beverly A. Dale, Karen A. Holbrook · Journal of Investigative Dermatology · 1985 · 296 citations · Full text

Biology, Filaggrin Correlated, Ichthyosis Vulgaris +4

Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English Population

R S Wells, C. Kerr · BMJ · 1966 · 217 citations · Full text

Mendelian Disorder, Clinical Features, Pathology +4

Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families

Emmanuelle Bitoun, Stéphane Chavanas, Alan D. Irvine et al. · Journal of Investigative Dermatology · 2002 · 212 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9