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
2013
Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis
Zambrano H, Montalvan M, Cabezas J, Lu Y, Yang CS, Milstone LM, Choate K. Mutations in TGM1 in Ecuadorians with autosomal recessive congenital ichthyosis. International Journal Of Dermatology 2013, 53: e312-e313. PMID: 24261627, PMCID: PMC4861992, DOI: 10.1111/ijd.12227.Peer-Reviewed Original Research
2011
A Large Mutational Study in Pachyonychia Congenita
Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ. A Large Mutational Study in Pachyonychia Congenita. Journal Of Investigative Dermatology 2011, 131: 1018-1024. PMID: 21326300, DOI: 10.1038/jid.2011.20.Peer-Reviewed Original ResearchMeSH KeywordsDNA Mutational AnalysisGenes, DominantHumansKeratin-16Keratin-17Keratin-6Keratoderma, PalmoplantarMutationPachyonychia CongenitaConceptsPachyonychia congenitaFrame insertion/deletion mutationsPainful palmoplantar keratodermaAdditional clinical featuresHeterozygous splice site mutationClinical featuresFollicular keratosisRare autosomal dominant skin disorderOral leukokeratosisNail dystrophyAutosomal dominant skin disorderSkin disordersHeterozygous missenseClinical diagnosisHeterozygous mutationsDominant skin disorderHotspot codonsPalmoplantar keratodermaKRT6AKRT16KRT17Splice site mutationKRT6BCongenitaPersonalized medicine