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 disordersKeratodermaHomozygosityCARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris
Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. Journal Of The American Academy Of Dermatology 2018, 79: 487-494. PMID: 29477734, PMCID: PMC6098739, DOI: 10.1016/j.jaad.2018.02.034.Peer-Reviewed Original ResearchConceptsPityriasis rubra pilarisPapulosquamous eruptionPsoriasis therapyFamily historyCARD14 mutationsRegistry of subjectsFeatures of psoriasisSystemic psoriasis therapiesSpectrum of diseaseDisorders of keratinizationWhole-exome sequencingOral retinoidsClinical characteristicsClinical featuresClinical historyTumor necrosisDiagnostic uncertaintyFamilial pityriasis rubra pilarisProminent involvementPsoriasisGenetic testingHeterozygous mutationsExome sequencingMinimal responseSmall sample size
2012
Impact of epidermal desquamation on tissue stores of iron
Milstone LM, Hu RH, Dziura JD, Zhou J. Impact of epidermal desquamation on tissue stores of iron. Journal Of Dermatological Science 2012, 67: 9-14. PMID: 22575277, PMCID: PMC3374011, DOI: 10.1016/j.jdermsci.2012.04.003.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAntimicrobial Cationic PeptidesCell ProliferationDisease Models, AnimalEpidermisFemaleGene Expression RegulationHemochromatosisHemochromatosis ProteinHepcidinsHistocompatibility Antigens Class IHomeostasisHuman papillomavirus 16HumansIronKidneyLiverMaleMembrane ProteinsMiceMice, 129 StrainMice, Inbred C57BLMice, KnockoutMice, TransgenicPapillomavirus InfectionsReceptors, TransferrinConceptsIron metabolismDifferent mouse modelsSignificant reductionHPV16 E7 geneSystemic iron metabolismSystemic proteinsIron statusMouse modelTissue storesE7 genesSystemic levelsEpidermal turnoverInternal organsEpidermal desquamationTransferrin receptorMetabolic studiesKnockout modelsCorneocyte desquamationDesquamationKidneyHuman skinEpidermal homeostasisMetabolismEpidermisSkin
2005
Iron in Skin of Mice with Three Etiologies of Systemic Iron Overload
Adams BD, Lazova R, Andrews NC, Milstone LM. Iron in Skin of Mice with Three Etiologies of Systemic Iron Overload. Journal Of Investigative Dermatology 2005, 125: 1200-1205. PMID: 16354190, PMCID: PMC2243217, DOI: 10.1111/j.0022-202x.2005.23949.x.Peer-Reviewed Original ResearchConceptsSystemic iron overloadHigh-iron dietSkin ironIron overloadIron dietIron levelsSkin of miceTissue iron levelsCutaneous manifestationsSkin of individualsSkin toxicityHistological abnormalitiesHistological changesMouse modelParenteral injectionParenteral administrationHereditary hemochromatosisTissue toxicityHuman hemochromatosisMiceSkin histologyHemochromatosis geneHemochromatosisHigh dietDermis
1991
Quantitation of cross-linked protein: An alternative to counting cornified envelopes as an index of keratinocyte differentiation
Hough-Monroe L, Milstone L. Quantitation of cross-linked protein: An alternative to counting cornified envelopes as an index of keratinocyte differentiation. Analytical Biochemistry 1991, 199: 25-28. PMID: 1807158, DOI: 10.1016/0003-2697(91)90264-t.Peer-Reviewed Original Research