2016
Somatic 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 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 Research
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