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, +22

Nature Genetics

Major Predisposing FactorCommon Loss-of-function VariantsAtopic DermatitisCutaneous BiologyImmunology +6

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

Frances J.D. Smith, Alan D. Irvine, Ana Terron-Kwiatkowski, +17

Nature Genetics

BiologyMendelian DisorderGenetic DisorderGeneticsPathogenesis +8

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Anavaj Sakuntabhai, Víctor L. Ruiz‐Pérez, Simon Carter, +14

Nature Genetics

Signal TransductionGenetic DisorderGeneticsCause Darier DiseaseMolecular Biology +4

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, +21

Nature Genetics

AllergyAtopic DermatitisGenetic DisorderGeneticsPathogenesis +9

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

Yaran Wen, Yang Liu, Yiming Xu, +37

Nature Genetics

Inhibitory Upstream OrfGenetic DisorderNatural SciencesGeneticsGenomic Mechanism +6

An immunohistochemical analysis of human aortic fatty streaks

J M Munro, Jon van der Walt, Colin S. Munro, +2

Human Pathology

InflammationMetabolic SyndromeCardiovascular DiseasePhysiologyVascular Biology +5

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

Fatima Rouan, Thomas W. White, Nkecha Brown, +7

Journal of Cell Science

Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex

Frances J.D. Smith, Laura D. Corden, E.L. Rugg, +10

Journal of Investigative Dermatology

Missense MutationsGeneticsPathologyKeratin 17Medicine +1

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Diana C. Blaydon, Lisbet K. Lind, Vincent Plagnol, +10

The American Journal of Human Genetics

Genetic DisorderGeneticsWater-channel ProteinMolecular BiologyMolecular Genetics +2

Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

Carol Dobson‐Stone, Rebecca J. Fairclough, Eimear Dunne, +8

Journal of Investigative Dermatology

Mendelian DisorderAtp2c1 GeneGenetic DisorderGeneticsNovel Mutations +4