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
2017
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis
Marukian NV, Hu RH, Craiglow BG, Milstone LM, Zhou J, Theos A, Kaymakcalan H, Akkaya DA, Uitto JJ, Vahidnezhad H, Youssefian L, Bayliss SJ, Paller AS, Boyden LM, Choate KA. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. JAMA Dermatology 2017, 153: 537-543. PMID: 28403434, PMCID: PMC5817618, DOI: 10.1001/jamadermatol.2017.0202.Peer-Reviewed Original Research
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
2005
Clinical 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 cysts