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
The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease
Bunick CG, Milstone LM. The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease. Journal Of Investigative Dermatology 2016, 137: 142-150. PMID: 27595935, PMCID: PMC5514376, DOI: 10.1016/j.jid.2016.08.018.Peer-Reviewed Original ResearchConnexin 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
2015
Crystal Structure of Human Profilaggrin S100 Domain and Identification of Target Proteins Annexin II, Stratifin, and HSP27
Bunick CG, Presland RB, Lawrence OT, Pearton DJ, Milstone LM, Steitz TA. Crystal Structure of Human Profilaggrin S100 Domain and Identification of Target Proteins Annexin II, Stratifin, and HSP27. Journal Of Investigative Dermatology 2015, 135: 1801-1809. PMID: 25760235, PMCID: PMC4466033, DOI: 10.1038/jid.2015.102.Peer-Reviewed Original ResearchMeSH Keywords14-3-3 ProteinsAnnexin A2Biomarkers, TumorCells, CulturedCrystallizationEpidermal CellsEpidermisExoribonucleasesFilaggrin ProteinsHSP27 Heat-Shock ProteinsHumansIntermediate Filament ProteinsKeratinocytesProtein BindingProtein TransportS100 ProteinsSensitivity and SpecificitySpectrometry, FluorescenceConceptsÅ resolution crystal structureProtein-protein interactionsHuman profilaggrinCalcium-binding domainKeratinocyte terminal differentiationMolecular functionsProtein interactionsTerminal domainShock protein 27Cell envelopeIdentification of targetsN-terminusMolecular approachesTerminal differentiationNormal epidermal barrierHydrophobic pocketSpecific functionsAnnexin IIStable dimerMolecular interfaceProtein 27Proteolytic productsProfilaggrinProteinCrystal structure
2012
Local Delivery of Gene-Modifying Triplex-Forming Molecules to the Epidermis
Rogers FA, Hu RH, Milstone LM. Local Delivery of Gene-Modifying Triplex-Forming Molecules to the Epidermis. Journal Of Investigative Dermatology 2012, 133: 685-691. PMID: 23014335, PMCID: PMC3532560, DOI: 10.1038/jid.2012.351.Peer-Reviewed Original ResearchConceptsIntradermal deliveryHairless miceTransgenic miceBasal keratinocytesMethod of deliveryNuclei of keratinocytesIntraperitoneal administrationSitu gene correctionBack skinLocal deliveryMiceDisease-causing genesEpidermal keratinocytesKeratinocytesLocal administrationAdministrationDeliverySkinEpidermisDaysImpact 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
2011
Visualization of plasmid delivery to keratinocytes in mouse and human epidermis
González-González E, Kim YC, Speaker TJ, Hickerson RP, Spitler R, Birchall JC, Lara MF, Hu RH, Liang Y, Kirkiles-Smith N, Prausnitz MR, Milstone LM, Contag CH, Kaspar RL. Visualization of plasmid delivery to keratinocytes in mouse and human epidermis. Scientific Reports 2011, 1: 158. PMID: 22355673, PMCID: PMC3240989, DOI: 10.1038/srep00158.Peer-Reviewed Original ResearchConceptsIdeal target organHuman skin xenograftsAccessibility of skinSkin delivery technologiesNon-invasive intravital imagingIntradermal injectionSkin xenograftsClinical utilityTarget organsPatient-friendly deliveryMouse skinBioluminescence imagingSkin model systemIntravital imagingNoninvasive assayTransfection of cellsIntravital fluorescenceHuman epidermisIndividual keratinocytesKeratinocytesSkinNucleic acid-based therapeuticsMiceReporter plasmidDelivery technologies
2010
Scaly skin and bath pH: Rediscovering baking soda
Milstone LM. Scaly skin and bath pH: Rediscovering baking soda. Journal Of The American Academy Of Dermatology 2010, 62: 885-886. PMID: 20398816, DOI: 10.1016/j.jaad.2009.04.011.Commentaries, Editorials and Letters
2006
Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome)
Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM. Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome). Journal Of Investigative Dermatology 2006, 126: 2032-2038. PMID: 16741516, DOI: 10.1038/sj.jid.5700332.Peer-Reviewed Original ResearchConceptsNeutral lipid storage diseaseLipid storage diseaseBasal permeability barrier functionIchthyosiform erythrodermaType 2 Gaucher's diseaseSC intersticesStorage diseaseLamellar bodiesStratum corneum integrityBarrier recovery rateSecretion of lipidsAtopic dermatitisUnifying pathogenic mechanismBarrier dysfunctionPathogenic mechanismsTissue biopsiesPermeability barrier functionMultisystem abnormalitiesBarrier abnormalitiesClinical diagnosisLipid metabolismBlood smearsGaucher diseaseCGI-58Neutral lipid dropletsStratum-Specific Expression of Human Transferrin Receptor Increases Iron in Mouse Epidermis
Milstone LM, Adams BD, Zhou J, Sanchez V, Shofner J. Stratum-Specific Expression of Human Transferrin Receptor Increases Iron in Mouse Epidermis. Journal Of Investigative Dermatology 2006, 126: 648-652. PMID: 16424878, PMCID: PMC2243218, DOI: 10.1038/sj.jid.5700127.Peer-Reviewed Original ResearchConceptsTransgenic miceStratum-specific expressionTransferrin receptorKeratin 14 promoterTransferrin receptor expressionBody iron lossesReceptor expressionHistological changesSite-dependent differencesLittermate controlsNormal epidermisReceptorsMiceMouse epidermisEpidermal desquamationFerritin expressionHuman transferrin receptorInvolucrin promoterKeratinocytesTransgenic animalsEpidermisAgeExtra ironExpressionAnimals
2004
Epidermal desquamation
Milstone LM. Epidermal desquamation. Journal Of Dermatological Science 2004, 36: 131-140. PMID: 15541634, DOI: 10.1016/j.jdermsci.2004.05.004.Commentaries, Editorials and Letters
2001
Photodegraded Nifedipine Stimulates Uptake and Retention of Iron in Human Epidermal Keratinocytes
Gruen A, Zhou J, Milstone L, Morton K. Photodegraded Nifedipine Stimulates Uptake and Retention of Iron in Human Epidermal Keratinocytes. Journal Of Investigative Dermatology 2001, 116: 774-777. PMID: 11348469, DOI: 10.1046/j.1523-1747.2001.01318.x.Peer-Reviewed Original ResearchConceptsHuman epidermal keratinocytesEpidermal keratinocytesD washout periodNifedipine treatmentDaily treatmentWashout periodNifedipineRetention of ironEpidermal desquamationIron uptakeKeratinocytesKeratinocyte monolayersSerum proteinsRelevant concentrationsToxic amountsEpidermal culturesTreatmentErythroid cells
1999
Growth and differentiation regulate CD44 expression on human keratinocytes
Zhou J, Haggerty J, Milstone L. Growth and differentiation regulate CD44 expression on human keratinocytes. In Vitro Cellular & Developmental Biology - Animal 1999, 35: 228-235. PMID: 10478803, DOI: 10.1007/s11626-999-0031-7.Peer-Reviewed Original ResearchConceptsCD44 expressionBasal keratinocytesChondroitin sulfate proteoglycan formKeratan sulfate proteoglycanConfluent culturesPreconfluent monolayersDifferentiated cellsHyaluronan receptorWestern immunoblotCD44 proteinHuman keratinocytesCD44 familyKeratinocytesPreconfluent culturesSulfate proteoglycanDifferentiated keratinocytesCD44Core proteinSplice variants
1996
CD44 Expression on Epidermal Melanocytes
Herbold K, Zhou J, Haggerty J, Milstone L. CD44 Expression on Epidermal Melanocytes. Journal Of Investigative Dermatology 1996, 106: 1230-1235. PMID: 8752662, DOI: 10.1111/1523-1747.ep12348871.Peer-Reviewed Original Research
1995
Histologic findings in acute HIV exanthem
Goldman G, Milstone L, Shapiro P. Histologic findings in acute HIV exanthem. Journal Of Cutaneous Pathology 1995, 22: 371-373. PMID: 7499579, DOI: 10.1111/j.1600-0560.1995.tb01422.x.Peer-Reviewed Case Reports and Technical Notes
1991
Glycosylation of Parathyroid Hormone-Related Peptide Secreted by Human Epidermal Keratinocytes*
WU T, SOIFER N, BURTIS W, MILSTONE L, STEWART A. Glycosylation of Parathyroid Hormone-Related Peptide Secreted by Human Epidermal Keratinocytes*. The Journal Of Clinical Endocrinology & Metabolism 1991, 73: 1002-1007. PMID: 1939513, DOI: 10.1210/jcem-73-5-1002.Peer-Reviewed Original ResearchMeSH KeywordsBlotting, WesternCells, CulturedChromatography, AffinityChromatography, High Pressure LiquidElectrophoresis, Polyacrylamide GelEpidermisGlycosylationHumansInfant, NewbornKeratinocytesMaleParathyroid Hormone-Related ProteinProtein Processing, Post-TranslationalProteinsRecombinant Proteins
1990
Measurement of retinoid effects on epidermal renewal
Milstone L. Measurement of retinoid effects on epidermal renewal. Methods In Enzymology 1990, 190: 76-81. PMID: 2087197, DOI: 10.1016/0076-6879(90)90011-o.Chapters
1988
Effector Functions of Epidermal Keratinocytes
MILSTONE L. Effector Functions of Epidermal Keratinocytes. Annals Of The New York Academy Of Sciences 1988, 548: 1-3. PMID: 2470284, DOI: 10.1111/j.1749-6632.1988.tb18787.x.ChaptersLocal and Systemic Implications of Thymidine Catabolism by Human Keratinocytesa
SCHWARTZ P, REUVENI H, MILSTONE L. Local and Systemic Implications of Thymidine Catabolism by Human Keratinocytesa. Annals Of The New York Academy Of Sciences 1988, 548: 115-124. PMID: 2470288, DOI: 10.1111/j.1749-6632.1988.tb18798.x.ChaptersThymidine phosphorylase in human epidermal keratinocytes
Schwartz P, Milstone L. Thymidine phosphorylase in human epidermal keratinocytes. Biochemical Pharmacology 1988, 37: 353-355. PMID: 2449215, DOI: 10.1016/0006-2952(88)90740-x.Peer-Reviewed Original Research