2012
An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred
Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA. An Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred. Pediatric Dermatology 2012, 29: 725-731. PMID: 22515571, PMCID: PMC3709244, DOI: 10.1111/j.1525-1470.2012.01757.x.Peer-Reviewed Original ResearchConceptsEpidermolysis bullosa pruriginosaDystrophic epidermolysis bullosaIntense pruritusEpidermolysis bullosaSimilar skin lesionsProband's younger brotherAnchoring fibril proteinKnown triggersClinical presentationLichenoid lesionsRare subtypeDermal-epidermal junctionYounger brotherBlistering diseaseCaucasian womenLichenoid papulesDorsal handSkin lesionsPruritic papulesAge 47Extensor extremitiesClinical phenotypeLinear scarringPruritusFibril protein
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