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
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