2015
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 TransportTransfection
1981
Different polypeptides form the intermediate filaments in bovine hoof and esophageal epithelium and in aortic endothelium.
Milstone L, McGuire J. Different polypeptides form the intermediate filaments in bovine hoof and esophageal epithelium and in aortic endothelium. Journal Of Cell Biology 1981, 88: 312-316. PMID: 7193680, PMCID: PMC2111748, DOI: 10.1083/jcb.88.2.312.Peer-Reviewed Original ResearchConceptsAmino acid sequence homologyFilament-forming proteinsPeptide mapsLimited proteolytic digestionSDS-polyacrylamide gelsDifferent bovine tissuesSequence homologyDifferent polypeptidesEndothelial cellsCultured endothelial cellsPolypeptideIntermediate filamentsProteolytic digestionPolyacrylamide gelsBovine tissuesFilamentsCellsFragmentsHomologyEpitheliumProteinBovine hoofAortic endotheliumEsophageal epitheliumViable portion