Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti
Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. Journal Of Clinical Investigation 2015, 125: 1703-1707. PMID: 25774499, PMCID: PMC4396494, DOI: 10.1172/jci64415.Peer-Reviewed Original ResearchAdultAge of OnsetAmino Acid SequenceCell Line, TumorCell NucleusChildChild, PreschoolChromosomes, Human, Pair 12CytoskeletonFrameshift MutationHumansIchthyosisIntermediate FilamentsKeratin-1KeratinocytesLoss of HeterozygosityMaleMolecular Sequence DataMosaicismPhenotypePolymorphism, Single NucleotideProtein TransportTransfectionCrystal Structure of Human Profilaggrin S100 Domain and Identification of Target Proteins Annexin II, Stratifin, and HSP27
Bunick CG, Presland RB, Lawrence OT, Pearton DJ, Milstone LM, Steitz TA. Crystal Structure of Human Profilaggrin S100 Domain and Identification of Target Proteins Annexin II, Stratifin, and HSP27. Journal Of Investigative Dermatology 2015, 135: 1801-1809. PMID: 25760235, PMCID: PMC4466033, DOI: 10.1038/jid.2015.102.Peer-Reviewed Original ResearchMeSH Keywords14-3-3 ProteinsAnnexin A2Biomarkers, TumorCells, CulturedCrystallizationEpidermal CellsEpidermisExoribonucleasesFilaggrin ProteinsHSP27 Heat-Shock ProteinsHumansIntermediate Filament ProteinsKeratinocytesProtein BindingProtein TransportS100 ProteinsSensitivity and SpecificitySpectrometry, FluorescenceConceptsÅ resolution crystal structureProtein-protein interactionsHuman profilaggrinCalcium-binding domainKeratinocyte terminal differentiationMolecular functionsProtein interactionsTerminal domainShock protein 27Cell envelopeIdentification of targetsN-terminusMolecular approachesTerminal differentiationNormal epidermal barrierHydrophobic pocketSpecific functionsAnnexin IIStable dimerMolecular interfaceProtein 27Proteolytic productsProfilaggrinProteinCrystal structure