title: The yin and the yang of keratin amino acid substitutions and epidermolysis bullosa simplex.
abstract: Mutations that change the same amino acid can result in different clinical phenotypes. Through in silico modeling and keratin filament assessment of genetically engineered HaCaT cells, Natsuga et al., as reported in this issue, have demonstrated how changes in charge and structure of a replacement amino acid in keratin 14 can cause disease (KRT14pA413P, EB simplex) or no clinical effect (KRT14pA413T, polymorphism).
authors.affiliation: Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia. d.murrell@unsw.edu.au
authors.forename: Dedee F
authors.initials: DF
authors.lastname: Murrell
authors.forename: Niken
authors.initials: N
authors.lastname: Trisnowati
authors.forename: Spiros
authors.initials: S
authors.lastname: Miyakis
authors.forename: Amy S
authors.initials: AS
authors.lastname: Paller
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D006801:Humans; D053547:Keratin-14 / Q000737:chemistry* / Q000235:genetics*; D015603:Keratinocytes / Q000502:physiology*; D008297:Male
chemical_list: D003062:Codon; C507540:KRT14 protein, human; D053547:Keratin-14