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 TransportTransfection
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 Research
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
1998
Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis
Choate K, Khavari P, Williams M. Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis. Journal Of Investigative Dermatology 1998, 110: 8-12. PMID: 9424079, DOI: 10.1046/j.1523-1747.1998.00070.x.Peer-Reviewed Original ResearchMeSH KeywordsHumansIchthyosis, LamellarPhenotypeRegenerationSkin Physiological PhenomenaTransglutaminasesConceptsCongenital ichthyosiform erythrodermaCIE patientsAutosomal recessive ichthyosisRecessive ichthyosisInternal organ involvementSubset of patientsLamellar ichthyosisImmune-deficient miceNonbullous congenital ichthyosiform erythrodermaAbnormal intracellular accumulationClassic lamellar ichthyosisGroup of diseasesErythrodermic psoriasisOrgan involvementAtopic dermatitisClinical featuresDeficient miceMinimal erythemaPatientsSkin disordersNetherton syndromeSpecific abnormalitiesAbnormal cornificationSkin rednessIchthyosiform erythroderma