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
1998
High-Efficiency Gene Transfer and Pharmacologic Selection of Genetically Engineered Human Keratinocytes
Deng H, Choate K, Lin Q, Khavari P. High-Efficiency Gene Transfer and Pharmacologic Selection of Genetically Engineered Human Keratinocytes. BioTechniques 1998, 25: 274-280. PMID: 9714888, DOI: 10.2144/98252gt02.Peer-Reviewed Original ResearchConceptsCutaneous gene deliveryGene delivery efficiencyEfficient retroviral gene transferGene transferFuture genetic therapiesTherapeutic genesGene deliveryDelivery efficiencyRetroviral gene transferRetroviral vectorsGenetic therapiesLow efficiencyProduction of populationsSomatic cellsEfficiencyHuman keratinocytesArrayGeneticallyBlasticidinTransferDeliveryEpidermolysis bullosaDelivery effortsCapabilityProduction
1997
Direct Cutaneous Gene Delivery in a Human Genetic Skin Disease
Choate K, Khavari P. Direct Cutaneous Gene Delivery in a Human Genetic Skin Disease. Human Gene Therapy 1997, 8: 1659-1665. PMID: 9322868, DOI: 10.1089/hum.1997.8.14-1659.Peer-Reviewed Original ResearchConceptsLamellar ichthyosisCutaneous gene deliveryHuman genetic skin diseaseFunctional abnormalitiesDeficient patientsTherapeutic goalsNude miceSkin diseasesIntact skinVivo injectionPlasmid injectionSuprabasal epidermisPatient's skinGenetic skin diseasesAccessible somatic tissueDisease tissuesGene delivery approachSkinTherapeutic gene transferInjectionRetroviral expression vectorDiseaseNaked DNAPartial restorationTissue locationA Model of Corrective Gene Transfer in X-Linked Ichthyosis
Freiberg R, Choate K, Deng H, Alperin E, Shapiro L, Khavari P. A Model of Corrective Gene Transfer in X-Linked Ichthyosis. Human Molecular Genetics 1997, 6: 927-933. PMID: 9175741, DOI: 10.1093/hmg/6.6.927.Peer-Reviewed Original ResearchConceptsSTS protein expressionCorrective gene deliveryDefective skin barrier functionSkin barrier functionSTS expressionCorrective gene transferBarrier function parametersCutaneous gene deliveryGenetic skin disordersImmunodeficient miceHistologic appearanceSame patientNormal controlsHyperkeratotic epidermisSkin disordersLoss of functionNormal skinPatientsBarrier functionXLI patientsProtein expressionPrimary keratinocytesPatient skin tissueCutaneous gene therapyHuman epidermisSustainability of Keratinocyte Gene Transfer and Cell Survival In Vivo
Choate K, Khavari P. Sustainability of Keratinocyte Gene Transfer and Cell Survival In Vivo. Human Gene Therapy 1997, 8: 895-901. PMID: 9195211, DOI: 10.1089/hum.1997.8.8-895.Peer-Reviewed Original ResearchConceptsGene deliveryCutaneous gene deliveryTherapeutic gene deliveryRetroviral vectorsNormal gene expression levelsBeta-gal expressionMultilayer epidermisGene transferRetroviral long terminal repeatEpidermal progenitor cellsSpecies-specific antibodiesVector sequencesCellular promotersKeratinocyte transglutaminaseDeliveryMarker gene expressionAttractive sitesGene productionType VII collagenHuman keratinocytesEfficiencyHuman involucrinTerminal repeat
1996
Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes*
Freiberg R, Spencer D, Choate K, Peng P, Schreiber S, Crabtree G, Khavari P. Specific Triggering of the Fas Signal Transduction Pathway in Normal Human Keratinocytes*. Journal Of Biological Chemistry 1996, 271: 31666-31669. PMID: 8940187, DOI: 10.1074/jbc.271.49.31666.Peer-Reviewed Original ResearchConceptsFas signal transduction pathwaySignal transduction pathwaysCytoplasmic domainTransduction pathwaysReceptor cytoplasmic domainFas signal transductionSignal transductionConstitutive promoterPlasma membraneGenotoxic injuryHuman keratinocytesFK1012Membrane receptorsCell typesPoint mutationsFA effectsViability of keratinocytesPhorbol esterSpecific triggeringGrowth stimuliFKBPBinding stepCellular changesNormal human keratinocytesProteinCorrective gene transfer in the human skin disorder lamellar ichthyosis
Choate K, Medalie D, Morgan J, Khavari P. Corrective gene transfer in the human skin disorder lamellar ichthyosis. Nature Medicine 1996, 2: 1263-1267. PMID: 8898758, DOI: 10.1038/nm1196-1263.Peer-Reviewed Original ResearchConceptsLamellar ichthyosisImmunodeficient mouse xenograft modelPrimary pathophysiologic defectMouse xenograft modelAbnormal epidermal differentiationCorrective gene transferCutaneous gene deliveryPathophysiologic defectsLI patientsEpidermal differentiationFunctional abnormalitiesPotential future approachesImmunodeficient miceXenograft modelSkin diseasesCutaneous barrierDifferentiation marker filaggrinFunction measuresNormal skinEpidermal barrierPatient's skinPrimary keratinocytesPatientsSkinHuman skin