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
2010
Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials
Hickerson RP, Leachman SA, Pho LN, Gonzalez-Gonzalez E, Smith FJ, McLean WH, Contag CH, Leake D, Milstone LM, Kaspar RL. Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials. Journal Of Investigative Dermatology 2010, 131: 1029-1036. PMID: 21191405, DOI: 10.1038/jid.2010.372.Peer-Reviewed Original ResearchMeSH KeywordsBony CallusCells, CulturedClinical Trials as TopicHumansKeratin-6KeratinocytesPachyonychia CongenitaPolymorphism, Single NucleotideRNA InterferenceRNA, MessengerRNA, Small InterferingSkinConceptsClinical trialsPachyonychia congenitaEnd pointPhase 1b clinical trialClinical end pointsRare skin disorderMolecular end pointsTypes of trialsImmune surveillancePatient-derived keratinocytesSkin disordersSustained inhibitionTreatment resultsRNAi-based therapeuticsRNA interferenceMRNA levelsTrialsTotal RNAHuman skinKeratinocyte culturesMRNAAmplifiable mRNATherapeuticsInhibitorsInhibition