2018
Mutations in PERP Cause Dominant and Recessive Keratoderma
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A. Mutations in PERP Cause Dominant and Recessive Keratoderma. Journal Of Investigative Dermatology 2018, 139: 380-390. PMID: 30321533, PMCID: PMC6586468, DOI: 10.1016/j.jid.2018.08.026.Peer-Reviewed Original ResearchConceptsC-terminal truncationsIntercellular adhesionEpidermal biologyEpidermal differentiation markersEpidermal homeostasisDesmosomal componentsDesmosomal proteinsGenetic determinantsDifferentiation markersEssential roleMutationsUnrelated kindredsDesmosomesProteinPERPOlmsted syndromePalmoplantar keratodermaGenesCrucial componentHeterozygosityBiologyHomeostasisKeratinization disordersKeratodermaHomozygosity
2016
Connexin channels in congenital skin disorders
Lilly E, Sellitto C, Milstone LM, White TW. Connexin channels in congenital skin disorders. Seminars In Cell And Developmental Biology 2016, 50: 4-12. PMID: 26775130, PMCID: PMC4779425, DOI: 10.1016/j.semcdb.2015.11.018.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsConnexin mutationsDifferent connexin genesSubtle functional differencesConnexin functionConnexin genesDominant gainConnexin channelsHeteromeric hemichannelsSpectrum of phenotypesFunctional roleConnexin 26 mutationsFunctional differencesCongenital skin disorderMutationsGap junctionsHemichannelsCalcium regulationConnexinsConnexin 43Detailed understandingCalcium permeabilitySkin disordersPalmoplantar keratodermaDeafness syndromeGenes
2014
The molecular genetic analysis of the expanding pachyonychia congenita case collection
Wilson N, O'Toole E, Milstone L, Hansen C, Shepherd A, Al‐Asadi E, Schwartz M, McLean W, Sprecher E, Smith F. The molecular genetic analysis of the expanding pachyonychia congenita case collection. British Journal Of Dermatology 2014, 171: 343-355. PMID: 24611874, PMCID: PMC4282083, DOI: 10.1111/bjd.12958.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaInternational Pachyonychia Congenita Research RegistryClinical diagnosisPeripheral blood leucocytesFollicular keratosisResearch RegistryBlood leucocytesOral leucokeratosisNail dystrophyKeratin mutationsUnreported mutationsPalmoplantar keratodermaChain reaction productsCase collectionDiagnosisKRT6CKRT6APolymerase chain reaction productsMolecular genetic analysisKRT6BKRT16KRT17Keratin genesMutationsTotal number
2013
Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation
Koochek A, Choate KA, Milstone LM. Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation. Pediatric Dermatology 2013, 31: e63-e64. PMID: 24274932, DOI: 10.1111/pde.12263.Peer-Reviewed Original Research