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
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
Frequent 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
Multilineage 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
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
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
2001
Human Hypertension Caused by Mutations in WNK Kinases
Wilson F, Disse-Nicodème S, Choate K, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford D, Lipkin G, Achard J, Feely M, Dussol B, Berland Y, Unwin R, Mayan H, Simon D, Farfel Z, Jeunemaitre X, Lifton R. Human Hypertension Caused by Mutations in WNK Kinases. Science 2001, 293: 1107-1112. PMID: 11498583, DOI: 10.1126/science.1062844.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceChromosome MappingChromosomes, Human, Pair 12Chromosomes, Human, Pair 17CytoplasmFemaleGene Expression Regulation, EnzymologicGenetic LinkageHumansHypertensionIntercellular JunctionsIntracellular Signaling Peptides and ProteinsIntronsKidney Tubules, CollectingKidney Tubules, DistalMaleMembrane ProteinsMicroscopy, FluorescenceMinor Histocompatibility AntigensMolecular Sequence DataMutationMutation, MissensePedigreePhosphoproteinsProtein Serine-Threonine KinasesPseudohypoaldosteronismSequence DeletionSignal TransductionWNK Lysine-Deficient Protein Kinase 1Zonula Occludens-1 ProteinConceptsMajor public health problemPublic health problemRenal salt reabsorptionAntihypertensive drugsHuman hypertensionUnknown causeDistal nephronKidney segmentsPseudohypoaldosteronism type IIHealth problemsSalt reabsorptionHypertensionWNK1 expressionNew targetsWNK kinasesTight junctionsType IISerine-threonine kinaseIntronic deletionWNK4WNK familyMutationsWNK1KinaseExcretion
2000
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Smith A, Skaug J, Choate K, Nayir A, Bakkaloglu A, Ozen S, Hulton S, Sanjad S, Al-Sabban E, Lifton R, Scherer S, Karet F. Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nature Genetics 2000, 26: 71-75. PMID: 10973252, DOI: 10.1038/79208.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdenosine TriphosphatasesAdolescentAdultAmino Acid SequenceAudiometryBlotting, NorthernBrainChildChild, PreschoolChromosomes, Human, Pair 7Contig MappingDNA, ComplementaryExonsFemaleGene DeletionGenes, RecessiveGenetic LinkageGenetic MarkersHearingHomozygoteHumansKidneyKidney CortexMaleMicroscopy, FluorescenceMitochondrial Proton-Translocating ATPasesModels, GeneticMolecular Sequence DataMutationPedigreePhysical Chromosome MappingPolymorphism, GeneticPolymorphism, Single-Stranded ConformationalPregnancy ProteinsProtein BiosynthesisProtein IsoformsProton PumpsProton-Translocating ATPasesRecombination, GeneticRNA SplicingSequence Homology, Amino AcidSuppressor Factors, ImmunologicTissue DistributionVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosesDistal nephronDistal renal tubular acidosisRecessive distal renal tubular acidosisRenal tubular acidosisGroup of disordersHuman kidney cortexRenal tubular acidosesNormal audiometryMetabolic acidosisTubular acidosisDifferent homozygous mutationsKidney-specific isoformKidney cortexPotassium balanceApical surfaceBone physiologyHomozygous mutationImmunofluorescence studiesMain organsProton-secreting cellsATPase pumpNorthern blot analysisAcidosisCalcium solubility
1999
Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ Resorption
Simon D, Lu Y, Choate K, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton R. Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg2+ Resorption. Science 1999, 285: 103-106. PMID: 10390358, DOI: 10.1126/science.285.5424.103.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceCalciumChromosomes, Human, Pair 3ClaudinsCloning, MolecularFemaleGenes, RecessiveHomeostasisHumansKidney DiseasesKidney TubulesLoop of HenleMagnesiumMagnesium DeficiencyMaleMembrane ProteinsMolecular Sequence DataMutationPedigreePhysical Chromosome MappingTight JunctionsConceptsParacellin-1Junction proteinsTight junction proteinsTight junctionsParacellular conductancePositional cloningHuman genesParacellular Mg2Regulated fluxHuman diseasesClaudin familyRenal tight junction proteinBasolateral surfaceProteinRenal Mg2Specific moleculesParacellular fluxParacellular permeabilityEssential componentCellsCloningTranscellular passageGenesConductanceThick ascending limb
1997
Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human Fibroblasts
Freiberg R, Spencer D, Choate K, Duh H, Schreiber S, Crabtree G, Khavari P. Fas Signal Transduction Triggers Either Proliferation or Apoptosis in Human Fibroblasts. Journal Of Investigative Dermatology 1997, 108: 215-219. PMID: 9008237, DOI: 10.1111/1523-1747.ep12334273.Peer-Reviewed Original Research