2022
Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders
Atzmony L, Ugwu N, Hamilton C, Paller A, Zech L, Antaya R, Choate K. Inflammatory linear verrucous epidermal nevus (ILVEN) encompasses a spectrum of inflammatory mosaic disorders. Pediatric Dermatology 2022, 39: 903-907. PMID: 35853659, PMCID: PMC9712156, DOI: 10.1111/pde.15094.Peer-Reviewed Original ResearchConceptsInflammatory linear verrucous epidermal nevusVerrucous epidermal nevusEpidermal nevusCARD14 mutationsHotspot mutationsLinear verrucous epidermal nevusPathogenesis-directed therapyCohort of patientsErythematous scaly plaquesRare skin diseaseLines of BlaschkoSomatic pathogenic variantsNSDHL mutationsHistopathological evaluationInflammatory disordersScaly plaquesHistopathologic evaluationHistopathological criteriaLinear porokeratosisSkin lesionsAffected skinPatientsSkin diseasesClinical descriptorsHeterogenous group
2014
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, , Paller A, Choate K. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. Journal Of Investigative Dermatology 2014, 135: 1540-1547. PMID: 25398053, PMCID: PMC4430428, DOI: 10.1038/jid.2014.485.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceCell MembraneChildChild, PreschoolConnexin 43ConnexinsCraniofacial AbnormalitiesDisease ProgressionErythrokeratodermia VariabilisExomeEye AbnormalitiesFemaleFoot Deformities, CongenitalGolgi ApparatusHeLa CellsHumansImmunohistochemistryMaleMolecular Sequence DataMutagenesis, Site-DirectedMutationPhenotypeSequence Analysis, DNASequence Homology, Amino AcidSkin DiseasesSyndactylyTooth AbnormalitiesConceptsSkin diseasesGJA1 mutationsErythrokeratodermia variabilis et progressivaOculodentodigital dysplasiaProgressive skin diseaseDe novo missense mutationsNovo missense mutationCutaneous findingsDominant de novo mutationsSkin disordersGap junction proteinDe novo mutationsBarrier functionConnexin 43Exome sequencingJunction proteinsPalmoplantar keratodermaDysplasiaGJA1Novo mutationsDiseaseMissense mutationsDifferent mutationsEpidermal homeostasisMembrane localization
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 location
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