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 syndromeGenesImaging Functional Nucleic Acid Delivery to Skin
Kaspar RL, Hickerson RP, González-González E, Flores MA, Speaker TP, Rogers FA, Milstone LM, Contag CH. Imaging Functional Nucleic Acid Delivery to Skin. Methods In Molecular Biology 2016, 1372: 1-24. PMID: 26530911, DOI: 10.1007/978-1-4939-3148-4_1.Peer-Reviewed Original ResearchConceptsNucleic acid deliveryNucleic acid-based therapiesAcid deliveryAcid-based therapiesFunctional deliveryFunctional nucleic acid deliveryTherapeutic nucleic acidsNucleic acidsOptical imaging technologiesReal-time monitoringTriplex nucleic acidsInteraction of lightMonogenic skin diseasesLight-tissue interactionsGene editingGene silencingOptical imagingNoninvasive imaging technologyTopical deliveryTime monitoringImaging technologyReporter geneLayered structureGeneral strategyEnzymatic reactions
2009
First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder
Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Kornbrust DJ, Smith FJ, McLean WI, Milstone LM, Kaspar RL. First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder. Molecular Therapy 2009, 18: 442-446. PMID: 19935778, PMCID: PMC2839285, DOI: 10.1038/mt.2009.273.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaPhase Ib clinical trialSubjective patient assessmentPhase Ib trialDose-escalation trialClinical efficacy measuresAutosomal dominant syndromeIb trialAdverse eventsWashout periodPatient assessmentEfficacy measuresPlantar callusClinical trialsPlantar keratodermaOpposite footSkin disordersSkin diseasesClinical settingDominant syndromeSatisfactory treatmentAdditional studiesTrialsGenetic disordersSiRNA
2006
Obstacles to Translation Conference
Epstein EH, Gilchrest BA, Milstone LM. Obstacles to Translation Conference. Journal Of Investigative Dermatology 2006, 126: 1434-1437. PMID: 16778808, DOI: 10.1038/sj.jid.5700420.Commentaries, Editorials and Letters
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
1993
Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
Petty EM, Seashore MR, Braverman IM, Spiesel SZ, Smith LT, Milstone LM. Dermatosparaxis in children. A case report and review of the newly recognized phenotype. JAMA Dermatology 1993, 129: 1310-5. PMID: 8215497, DOI: 10.1001/archderm.129.10.1310.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleCollagenEhlers-Danlos SyndromeHumansInfantMalePhenotypeSkinSkin DiseasesConceptsMarked skin fragilityConnective tissue disordersUmbilical herniaTissue disordersBlue scleraeGrowth retardationSkin fragilityElectronmicroscopic findingsElectron microscopic findingsAutosomal recessive connective tissue disorderCharacteristic biochemicalCircular collagen fibersCase reportJoint laxityClinical diagnosisSkin laxityAbnormal processingLarge fontanellesConnective tissueAffected boyLaxityBruisabilityDisordersHerniaMicrognathia