2022
502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds
Sun Q, Marukian N, Cheraghlou S, Paller A, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu R, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams C, Loring E, Craiglow B, Milstone L, Lifton R, Boyden L, Choate K. 502 The genomic and phenotypic landscape of ichthyosis: An analysis of 1000 kindreds. Journal Of Investigative Dermatology 2022, 142: s85. DOI: 10.1016/j.jid.2022.05.511.Peer-Reviewed Original Research
2017
291 Establishing and validating an ichthyosis severity index
Marukian N, Deng Y, Gan G, Ren I, Thermidor W, Craiglow B, Milstone L, Choate K. 291 Establishing and validating an ichthyosis severity index. Journal Of Investigative Dermatology 2017, 137: s50. DOI: 10.1016/j.jid.2017.02.307.Peer-Reviewed Original Research
2016
383 A novel erythrokeratodermia-cardiomyopathy syndrome is caused by dominant, clustered mutations in desmoplakin
Boyden L, Kam C, Hernández-Martín A, Zhou J, Craiglow B, Milstone L, Hu R, Elias P, Green K, Choate K. 383 A novel erythrokeratodermia-cardiomyopathy syndrome is caused by dominant, clustered mutations in desmoplakin. Journal Of Investigative Dermatology 2016, 136: s68. DOI: 10.1016/j.jid.2016.02.416.Peer-Reviewed Original Research
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
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