2023
Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin
Bolsoni J, Liu D, Mohabatpour F, Ebner R, Sadhnani G, Tafech B, Leung J, Shanta S, An K, Morin T, Chen Y, Arguello A, Choate K, Jan E, Ross C, Brambilla D, Witzigmann D, Kulkarni J, Cullis P, Hedtrich S. Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin. ACS Nano 2023, 17: 22046-22059. PMID: 37918441, PMCID: PMC10655174, DOI: 10.1021/acsnano.3c08644.Peer-Reviewed Original ResearchConceptsLipid nanoparticlesLNP compositionGene editing ratesGene editingGene editing toolsIonizable lipidsEfficient deliveryDelivery barriersCas9 RNPMonogenic skin diseasesOff-target effectsNanoparticlesEditing ratesEditing toolsCas9 mRNAGenetic toolsHuman skinEditingHigh 2DSkin tissueExciting advancesEfficientLayerDeliveryEpidermal layerAssociations between ichthyosis and mood disorders: A case-control study in the All of Us Research Program
Chen G, Goldust M, Choate K, Cohen J. Associations between ichthyosis and mood disorders: A case-control study in the All of Us Research Program. Journal Of The American Academy Of Dermatology 2023, 90: 439-440. PMID: 37863200, DOI: 10.1016/j.jaad.2023.10.025.Peer-Reviewed Original ResearchAssociation 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 DNADiseaseDisordersPatientsBiopsyClinical features in adults with acquired cutis laxa: a retrospective review
O’Connell K, Schaefer M, Atzmony L, Vleugels R, Choate K, LaChance A, Min M. Clinical features in adults with acquired cutis laxa: a retrospective review. British Journal Of Dermatology 2023, 188: 800-816. PMID: 36849736, PMCID: PMC10230959, DOI: 10.1093/bjd/ljad043.Peer-Reviewed Original ResearchConceptsAcquired cutis laxaCutis laxaThorough systemic investigationRare dermatological conditionMedication exposureAdult patientsRetrospective reviewPatient historyDermatological conditionsGenetic predispositionGenetic mutationsPatientsSystemic investigationEnvironmental insultsExposureComorbiditiesEtiologyInsultLaxaSymptomatologyNagashima‐type palmoplantar keratoderma: Case series and two novel variants
Braun M, Choate K, Mathes E. Nagashima‐type palmoplantar keratoderma: Case series and two novel variants. Pediatric Dermatology 2023, 40: 882-885. PMID: 36721328, DOI: 10.1111/pde.15265.Peer-Reviewed Original Research
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 mRNAsFindingsPatientsHistopathologicalDiseaseEpitheliumInflammatory 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
2017
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. American Journal Of Human Genetics 2017, 100: 978-984. PMID: 28575652, PMCID: PMC5473720, DOI: 10.1016/j.ajhg.2017.05.003.Peer-Reviewed Original ResearchConceptsYeast complementation studiesNew genetic determinantsCeramide synthesis pathwayKb inversionComplementation studiesRecessive Mendelian disordersCDNA sequencingGenome sequencingCeramide generationMendelian disordersSynthesis pathwayBase changesGenetic determinantsMutationsSequencingExome sequencingRetinoic acidProgressive symmetric erythrokeratodermaEpidermal functionMultiple probandsAlternative pathwayPathwayScaly skinSplicingExons
2016
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, Genomics Y, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA. GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. American Journal Of Human Genetics 2016, 99: 443-450. PMID: 27476652, PMCID: PMC4974082, DOI: 10.1016/j.ajhg.2016.06.010.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedChild, PreschoolEnzyme ActivationGTP-Binding Protein alpha SubunitsGTP-Binding Protein alpha Subunits, Gq-G11Human Umbilical Vein Endothelial CellsHumansInfantInfant, NewbornIntercellular Signaling Peptides and ProteinsMaleMAP Kinase Signaling SystemMelanocytesMitogen-Activated Protein KinasesMutationProto-Oncogene Proteins c-aktVascular NeoplasmsConceptsLobular capillary hemangiomaVascular tumorsKaposiform hemangioendotheliomaMonths of lifeYears of ageSomatic activating mutationsGNA14 mutationsHuman endothelial cellsPharmacologic interventionsSignificant complicationsCommon neoplasmCapillary hemangiomaInfantile hemangiomasLCH lesionsPrimary human endothelial cellsTherapeutic interventionsActivating mutationsGNA11 mutationsTumorsEndothelial cellsLesionsPotential targetHemangiomaGNA14Somatic mutationsSomatic Mutations in NEK9 Cause Nevus Comedonicus
Levinsohn JL, Sugarman JL, Genomics Y, McNiff JM, Antaya RJ, Choate KA. Somatic Mutations in NEK9 Cause Nevus Comedonicus. American Journal Of Human Genetics 2016, 98: 1030-1037. PMID: 27153399, PMCID: PMC4863661, DOI: 10.1016/j.ajhg.2016.03.019.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingNevus comedonicusAcne vulgarisNormal follicular differentiationFirst-degree relativesFollicular plugsRare disorderSevere diseaseNormal folliclesFollicular differentiationComedo formationGain of functionMost adolescentsAffected tissuesKeratin 10Differentiation markersComedonesFollicular homeostasisSomatic mutationsCystsFolliclesGenetic determinantsKinase activationPotential regulatorEctopic expression
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 mosaicismMutationsSomatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum
Levinsohn JL, Sugarman JL, Bilguvar K, McNiff JM, Choate K, Genomics T. Somatic V600E BRAF Mutation in Linear and Sporadic Syringocystadenoma Papilliferum. Journal Of Investigative Dermatology 2015, 135: 2536-2538. PMID: 25950823, PMCID: PMC4567902, DOI: 10.1038/jid.2015.180.Peer-Reviewed Original ResearchFrequent somatic reversion of KRT1 mutations in ichthyosis with confetti
Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. Journal Of Clinical Investigation 2015, 125: 1703-1707. PMID: 25774499, PMCID: PMC4396494, DOI: 10.1172/jci64415.Peer-Reviewed Original ResearchAdultAge of OnsetAmino Acid SequenceCell Line, TumorCell NucleusChildChild, PreschoolChromosomes, Human, Pair 12CytoskeletonFrameshift MutationHumansIchthyosisIntermediate FilamentsKeratin-1KeratinocytesLoss of HeterozygosityMaleMolecular Sequence DataMosaicismPhenotypePolymorphism, Single NucleotideProtein TransportTransfectionSomatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma
Lim YH, Douglas SR, Ko CJ, Antaya RJ, McNiff JM, Zhou J, , Choate K, Narayan D. Somatic Activating RAS Mutations Cause Vascular Tumors Including Pyogenic Granuloma. Journal Of Investigative Dermatology 2015, 135: 1698-1700. PMID: 25695684, PMCID: PMC4430357, DOI: 10.1038/jid.2015.55.Peer-Reviewed Original Research
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
2013
Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi
Levinsohn JL, Teng J, Craiglow BG, Loring EC, Burrow TA, Mane SS, Overton JD, Lifton RP, McNiff JM, Lucky AW, Choate KA. Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi. Journal Of Investigative Dermatology 2013, 134: 1149-1152. PMID: 24129065, PMCID: PMC3961553, DOI: 10.1038/jid.2013.430.Peer-Reviewed Original ResearchMultilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia
Lim YH, Ovejero D, Sugarman JS, DeKlotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Human Molecular Genetics 2013, 23: 397-407. PMID: 24006476, PMCID: PMC3869357, DOI: 10.1093/hmg/ddt429.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentChildExomeFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGene Expression Regulation, DevelopmentalGTP PhosphohydrolasesHumansHypophosphatemiaMaleMembrane ProteinsMutationNevusNevus, PigmentedOsteomalaciaProto-Oncogene Proteins p21(ras)Sequence Analysis, DNASkinSkin NeoplasmsConceptsSerum FGF23 levelsElevated serum FGF23Congenital melanocytic neviSomatic activating mutationsFGF23 levelsSerum FGF23Bone lesionsMelanocytic neviActivating mutationsElevated serum FGF23 levelsFibroblast growth factor 23Giant congenital melanocytic nevusElevated serum levelsGrowth factor 23Regulation of FGF23Bone-derived hormoneRenal phosphate wastingLarge congenital melanocytic neviDysplastic boneElevated FGF23Factor 23Serum levelsCutaneous disordersPhosphate wastingInvolved tissues
2012
Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS, which Cause Nevus Sebaceus. Journal Of Investigative Dermatology 2012, 133: 827-830. PMID: 23096712, PMCID: PMC3556376, DOI: 10.1038/jid.2012.379.Peer-Reviewed Original ResearchAn 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
2010
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science 2010, 330: 94-97. PMID: 20798280, PMCID: PMC3085938, DOI: 10.1126/science.1192280.Peer-Reviewed Original ResearchAmino Acid SequenceCell NucleolusChromosome MappingChromosomes, Human, Pair 17FemaleFrameshift MutationHumansIchthyosiform Erythroderma, CongenitalIntermediate FilamentsKeratin-10KeratinsLoss of HeterozygosityMaleMitosisMolecular Sequence DataMosaicismMutant ProteinsRecombination, GeneticSelection, GeneticSkin