2022
The Genomic and Phenotypic Landscape of Ichthyosis
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, Levinsohn J, Ren I, Hu RH, Zhou J, Zaki T, Fan R, Tian C, Saraceni C, Nelson-Williams CJ, Loring E, Craiglow BG, Milstone LM, Lifton RP, Boyden LM, Choate KA. The Genomic and Phenotypic Landscape of Ichthyosis. JAMA Dermatology 2022, 158: 16-25. PMID: 34851365, PMCID: PMC8637393, DOI: 10.1001/jamadermatol.2021.4242.Peer-Reviewed Original ResearchConceptsClinical manifestationsPathogenic variantsCohort studySkin painEye problemsPhenotypic spectrumGenotype-phenotype associationsSkin odorClear genotype-phenotype associationsFisher's exact testGenetic diagnosisPatient advocacy groupsNovel disease-associated variantsReferral centerDisease-associated variantsClinical assessmentSkin infectionsClinical photographsMAIN OUTCOMEExact testHearing problemsHeterogeneous disorderScaly skinBlood DNACommon genotype
2018
CARD14-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
2017
Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation
Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez‐Pazos L, Vega A, Kramer D, Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS, Milstone LM, Choate KA. Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation. British Journal Of Dermatology 2017, 177: 319-322. PMID: 28403545, PMCID: PMC5522355, DOI: 10.1111/bjd.15570.Peer-Reviewed Original ResearchExpanding 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 agonistExpanding the Phenotypic Spectrum of Olmsted Syndrome
Wilson NJ, Cole C, Milstone LM, Kiszewski AE, Hansen CD, O'Toole EA, Schwartz ME, McLean WH, Smith FJ. Expanding the Phenotypic Spectrum of Olmsted Syndrome. Journal Of Investigative Dermatology 2015, 135: 2879-2883. PMID: 26067147, PMCID: PMC4652067, DOI: 10.1038/jid.2015.217.Peer-Reviewed Original ResearchFrequent somatic reversion of KRT1 mutations in ichthyosis with confetti
Choate KA, Lu Y, Zhou J, Elias PM, Zaidi S, Paller AS, Farhi A, Nelson-Williams C, Crumrine D, Milstone LM, Lifton RP. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. Journal Of Clinical Investigation 2015, 125: 1703-1707. PMID: 25774499, PMCID: PMC4396494, DOI: 10.1172/jci64415.Peer-Reviewed Original ResearchAdultAge of OnsetAmino Acid SequenceCell Line, TumorCell NucleusChildChild, PreschoolChromosomes, Human, Pair 12CytoskeletonFrameshift MutationHumansIchthyosisIntermediate FilamentsKeratin-1KeratinocytesLoss of HeterozygosityMaleMolecular Sequence DataMosaicismPhenotypePolymorphism, Single NucleotideProtein TransportTransfection
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
1994
Epican, a heparan/chondroitin sulfate proteoglycan form of CD44, mediates cell-cell adhesion
Milstone L, Hough-Monroe L, Kugelman L, Bender J, Haggerty J. Epican, a heparan/chondroitin sulfate proteoglycan form of CD44, mediates cell-cell adhesion. Journal Of Cell Science 1994, 107: 3183-3190. PMID: 7699015, DOI: 10.1242/jcs.107.11.3183.Peer-Reviewed Original ResearchOverexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development.
Wysolmerski JJ, Broadus AE, Zhou J, Fuchs E, Milstone LM, Philbrick WM. Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development. Proceedings Of The National Academy Of Sciences Of The United States Of America 1994, 91: 1133-1137. PMID: 7508121, PMCID: PMC521468, DOI: 10.1073/pnas.91.3.1133.Peer-Reviewed Original ResearchConceptsFollicle developmentTransgenic miceHair follicle developmentHuman keratin 14 promoterParathyroid hormone-related proteinNormal hair follicle developmentOverexpression of PTHrPHormone-related proteinHormone-related peptideKeratin 14 promoterHumoral hypercalcemiaPTHrP geneNormal tissuesMicePTHrPSkinOverexpressionCellular differentiationEarly stagesHypercalcemiaMalignancySyndromePeptidesFollicles
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