2019
Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E
Lilly E, Strickler M, Milstone LM, Bunick CG. Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E. Journal Of Dermatological Science 2019, 95: 119-122. PMID: 31331740, PMCID: PMC7263394, DOI: 10.1016/j.jdermsci.2019.07.002.Peer-Reviewed Original Research
2018
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
Lilly E, Bunick CG, Maley AM, Zhang S, Spraker MK, Theos AJ, Vivar KL, Seminario-Vidal L, Bennett AE, Sidbury R, Ogawa Y, Akiyama M, Binder B, Hadj-Rabia S, Morotti RA, Glusac EJ, Choate KA, Richard G, Milstone LM. More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations. Journal Of The American Academy Of Dermatology 2018, 80: 617-625. PMID: 30287322, PMCID: PMC6372339, DOI: 10.1016/j.jaad.2018.09.042.Peer-Reviewed Original Research
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
2015
The Protein Acyl Transferase ZDHHC21 Modulates &agr;1 Adrenergic Receptor Function and Regulates Hemodynamics
Marin EP, Jozsef L, Di Lorenzo A, Held KF, Luciano AK, Melendez J, Milstone LM, Velazquez H, Sessa WC. The Protein Acyl Transferase ZDHHC21 Modulates &agr;1 Adrenergic Receptor Function and Regulates Hemodynamics. Arteriosclerosis Thrombosis And Vascular Biology 2015, 36: 370-379. PMID: 26715683, PMCID: PMC4984414, DOI: 10.1161/atvbaha.115.306942.Peer-Reviewed Original ResearchMeSH KeywordsAcyltransferasesAdrenergic alpha-1 Receptor AgonistsAnimalsAortaBlood PressureDose-Response Relationship, DrugEpinephrineFibroblastsGenotypeHeart RateHEK293 CellsHemodynamicsHumansHypotensionLipoylationMesenteric ArteriesMice, Inbred C57BLMice, Mutant StrainsMutationNorepinephrinePhenotypePhenylephrineReceptors, Adrenergic, alpha-1Signal TransductionTachycardiaTime FactorsTransfectionVasoconstrictionConceptsProtein acyl transferasesNovel molecular modeZDHHC familyLipid palmitateZDHHC enzymesVascular toneNumerous proteinsPossible molecular mechanismsProtein localizationAdrenergic receptor gene expressionGene expressionMolecular mechanismsVascular functionBiochemical studiesReceptor gene expressionAcyl transferaseMolecular modePalmitoylationΑ1-adrenergic receptor agonistTelemetry studiesInfusion of phenylephrinePhysiological studiesΑ1-adrenergic receptorsReceptor functionAdrenergic receptor agonist
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 ResearchMutations 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 ResearchConceptsPachyonychia 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 medicineMeeting Report from Frontiers in Ichthyosis Research
Milstone LM, Rizzo WB, Pickford JR. Meeting Report from Frontiers in Ichthyosis Research. Journal Of Investigative Dermatology 2011, 131: 279-282. PMID: 21228807, PMCID: PMC6028019, DOI: 10.1038/jid.2010.338.Commentaries, Editorials and Letters
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
2005
Gene Therapy for Autosomal Dominant Disorders of Keratin
Lewin AS, Glazer PM, Milstone LM. Gene Therapy for Autosomal Dominant Disorders of Keratin. Journal Of Investigative Dermatology Symposium Proceedings 2005, 10: 47-61. PMID: 16250209, DOI: 10.1111/j.1087-0024.2005.10207.x.Commentaries, Editorials and LettersMeSH KeywordsAnimalsDarier DiseaseDependovirusEctodermal DysplasiaEpidermolysis Bullosa SimplexGene SilencingGene TargetingGenes, DominantGenetic TherapyGenetic VectorsHumansKeratinsKeratoderma, PalmoplantarMiceMutationNails, MalformedOligonucleotides, AntisenseRNA InterferenceRNA, CatalyticRNA, Small InterferingConceptsRNA knockdown approachGene correctionGene therapyViral vectorsEpidermal skin cellsKeratin diseasesKnockdown approachRNA interferenceGene expressionEpidermolysis bullosa simplexToxic proteinsDominant mutationsGenetic diseasesGenetic therapiesKeratin filamentsEpidermal diseasesGenetic defectsTissue cultureSelective inhibitorSkin cellsAttractive alternativeAutosomal dominant disorderRecent innovationsDominant disorderNear futureClinical and Pathological Features of Pachyonychia Congenita
Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane E. Clinical and Pathological Features of Pachyonychia Congenita. Journal Of Investigative Dermatology Symposium Proceedings 2005, 10: 3-17. PMID: 16250204, DOI: 10.1111/j.1087-0024.2005.10202.x.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaPainful plantar keratodermaUnreported clinical featuresVariable clinical findingsPossible pathogenic mechanismsEarly primary tooth lossPrimary tooth lossNipple lesionsPC patientsAmbulatory aidsNatal teethClinical featuresClinical findingsFollicular keratosisLaryngeal involvementProspective evaluationPathological featuresTooth lossPalmar keratodermaOral mucosaResearch RegistryOral leukokeratosisPlantar keratodermaPathogenic mechanismsCutaneous cystsTreatment of Pachyonychia Congenita
Milstone LM, Fleckman P, Leachman SA, Leigh IM, Paller AS, van Steensel MA, Swartling C. Treatment of Pachyonychia Congenita. Journal Of Investigative Dermatology Symposium Proceedings 2005, 10: 18-20. PMID: 16250205, DOI: 10.1111/j.1087-0024.2005.10203.x.Peer-Reviewed Original Research