1997
A 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 epidermis
1996
Corrective 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