2023
Association of Somatic ATP2A2 Damaging Variants With Grover Disease
Seli D, Ellis K, Goldust M, Shah K, Hu R, Zhou J, McNiff J, Choate K. Association of Somatic ATP2A2 Damaging Variants With Grover Disease. JAMA Dermatology 2023, 159: 745-749. PMID: 37195706, PMCID: PMC10193258, DOI: 10.1001/jamadermatol.2023.1139.Peer-Reviewed Original ResearchConceptsGrover's diseaseGD tissuesSomatic single nucleotide variantsControl tissuesRetrospective case seriesCase series studyAnnotation-dependent depletion scoreConsecutive patientsCase seriesKidney failureHistopathologic findingsAcantholytic disordersOrgan transplantationMAIN OUTCOMEBiopsy tissueSeries studyDarier's diseaseClinical diagnosisParticipant's DNAOlder individualsTissue DNADiseaseDisordersPatientsBiopsy
2022
Inguinal patch in mpox (monkeypox) virus infection and eccrine syringometaplasia: report of two cases with in situ hybridization and electron microscopy findings
Roy S, Sarhan J, Liu X, Murphy M, Bunick C, Choate K, Damsky W, McNiff J. Inguinal patch in mpox (monkeypox) virus infection and eccrine syringometaplasia: report of two cases with in situ hybridization and electron microscopy findings. British Journal Of Dermatology 2022, 188: 574-576. PMID: 36763786, DOI: 10.1093/bjd/ljac146.Peer-Reviewed Original ResearchConceptsVirus infectionUnusual clinical findingsElectron microscopy findingsEccrine epitheliumSquamous syringometaplasiaClinical findingsSitu hybridizationEccrine ductsMicroscopy findingsSyringometaplasiaUltrastructural characteristicsInfectionViral mRNAsFindingsPatientsHistopathologicalDiseaseEpithelium
2015
Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease
Knopp EA, Saraceni C, Moss J, McNiff JM, Choate KA. Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease. Journal Of Cutaneous Pathology 2015, 42: 853-857. PMID: 26154588, PMCID: PMC4843784, DOI: 10.1111/cup.12551.Peer-Reviewed Original ResearchConceptsPapular acantholytic dyskeratosisAcantholytic dyskeratosisATP2A2 mutationsDarier's diseasePeripheral blood DNAUncommon eruptionVulvocrural areaAcantholytic dermatosisPeripheral bloodUninvolved skinAnogenital areaHistological similaritiesPruritic papulesDyskeratosisNormal tissuesBlood DNAGenetic causeLesionsChestDiseaseWomenSomatic mosaicismMutations
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