2015
Gene expression profiling in pachyonychia congenita skin
Cao YA, Hickerson RP, Seegmiller BL, Grapov D, Gross MM, Bessette MR, Phinney BS, Flores MA, Speaker TJ, Vermeulen A, Bravo AA, Bruckner AL, Milstone LM, Schwartz ME, Rice RH, Kaspar RL. Gene expression profiling in pachyonychia congenita skin. Journal Of Dermatological Science 2015, 77: 156-165. PMID: 25656049, PMCID: PMC4374015, DOI: 10.1016/j.jdermsci.2015.01.001.Peer-Reviewed Original ResearchConceptsPachyonychia congenitaTape-strip samplesPlantar skinSerine protease inhibitorNon-PC controlsPainful plantar keratodermaSkin barrier homeostasisPC patientsPatient groupControl volunteersMajor symptomsSkin biopsiesPC pathogenesisPlantar keratodermaPathogenic sequelaeSkin disordersBarrier homeostasisPatient samplesGene expression profilingKeratinocyte proliferationEnvelope proteinBiopsyMRNA analysisProtease inhibitorsSkin
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 numberReport of the 10th Annual International Pachyonychia Congenita Consortium Meeting
van Steensel MAM, Coulombe PA, Kaspar RL, Milstone LM, McLean IWH, Roop DR, Smith FJD, Sprecher E, Schwartz ME. Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting. Journal Of Investigative Dermatology 2014, 134: 588-591. PMID: 24518109, PMCID: PMC3930927, DOI: 10.1038/jid.2013.392.Commentaries, Editorials and Letters
2010
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, Nelson-Williams C, Crumrine D, Williams ML, Nopper AJ, Bree A, Milstone LM, Lifton RP. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10. Science 2010, 330: 94-97. PMID: 20798280, PMCID: PMC3085938, DOI: 10.1126/science.1192280.Peer-Reviewed Original ResearchAmino Acid SequenceCell NucleolusChromosome MappingChromosomes, Human, Pair 17FemaleFrameshift MutationHumansIchthyosiform Erythroderma, CongenitalIntermediate FilamentsKeratin-10KeratinsLoss of HeterozygosityMaleMitosisMolecular Sequence DataMosaicismMutant ProteinsRecombination, GeneticSelection, GeneticSkin
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 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 ResearchGene 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 future
2001
Delayed‐onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16
Connors J, Rahil A, Smith F, McLean W, Milstone L. Delayed‐onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. British Journal Of Dermatology 2001, 144: 1058-1062. PMID: 11359398, DOI: 10.1046/j.1365-2133.2001.04199.x.Peer-Reviewed Original Research
1994
Overexpression 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
1989
Dipyridamole Potentiates the Growth-Inhibitory Action of Methotrexate and 5-Fluorouracil in Human Keratinocytes In Vitro
Schwartz P, Milstone L. Dipyridamole Potentiates the Growth-Inhibitory Action of Methotrexate and 5-Fluorouracil in Human Keratinocytes In Vitro. Journal Of Investigative Dermatology 1989, 93: 523-527. PMID: 2476512, DOI: 10.1111/1523-1747.ep12284073.Peer-Reviewed Original Research
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.ChaptersTwo distinct tumor-derived, parathyroid hormone-like peptides result from alternative ribonucleic acid splicing.
Mangin M, Ikeda K, Dreyer B, Milstone L, Broadus A. Two distinct tumor-derived, parathyroid hormone-like peptides result from alternative ribonucleic acid splicing. Endocrinology 1988, 2: 1049-55. PMID: 2464747, DOI: 10.1210/mend-2-11-1049.Peer-Reviewed Original ResearchThymidine 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
1986
A Parathyroid Hormone-Like Protein from Cultured Human Keratinocytes
Merendino JJ, Insogna KL, Milstone LM, Broadus AE, Stewart AF. A Parathyroid Hormone-Like Protein from Cultured Human Keratinocytes. Science 1986, 231: 388-390. PMID: 2417317, DOI: 10.1126/science.2417317.Peer-Reviewed Original ResearchConceptsHumoral hypercalcemiaParathyroid hormoneHuman keratinocytesParathyroid hormone receptor agonistsParathyroid hormone-like proteinSquamous epithelial originExtracts of tumorsHormone receptor agonistsHormone-like proteinHormone-like factorsAdenylate cyclase activityRat osteosarcoma cellsAdenylate cyclase productionNative parathyroid hormoneCultured human keratinocytesNormal human keratinocytesReceptor agonistMalignant tumorsCyclic adenosine monophosphateHypercalcemiaEpithelial originKeratinocyte-conditioned mediumMalignancyCyclase activityCyclase production
1984
Epidermal Cell Confluence and Implications for a Two-Step Mechanism of Wound Closure
Stenn K, Milstone L. Epidermal Cell Confluence and Implications for a Two-Step Mechanism of Wound Closure. Journal Of Investigative Dermatology 1984, 83: 445-447. PMID: 6209344, DOI: 10.1111/1523-1747.ep12273552.Peer-Reviewed Original Research2,3,7,8-Tetrachlorodibenzo-p-dioxin Induces Hyperplasia in Confluent Cultures of Human Keratinocytes
Milstone L, LaVigne J. 2,3,7,8-Tetrachlorodibenzo-p-dioxin Induces Hyperplasia in Confluent Cultures of Human Keratinocytes. Journal Of Investigative Dermatology 1984, 82: 532-534. PMID: 6210328, DOI: 10.1111/1523-1747.ep12261149.Peer-Reviewed Original Research
1983
GABA from putrescine is bound in macromolecular form in keratinocytes
Canellakis Z, Milstone L, Marsh L, Young P, Bondy P. GABA from putrescine is bound in macromolecular form in keratinocytes. Life Sciences 1983, 33: 599-603. PMID: 6192309, DOI: 10.1016/0024-3205(83)90247-3.Peer-Reviewed Original ResearchConceptsGamma-aminobutyric acidAcid-precipitable materialNeurotransmitter gamma-aminobutyric acidTotal cell-associated radioactivityTCA-precipitable radioactivityTCA-soluble radioactivityCultured human keratinocytesTCA-soluble fractionCell-associated radioactivityHuman foreskin keratinocytesTCA-precipitable materialAcid-soluble radioactivityRadioactive metabolitesSoluble radioactivityForeskin keratinocytesStratified culturesHuman keratinocytesKeratinocytesTrichloroacetic acidMacromolecular formRadioactivity
1982
The influence of retinoids on cultivated human keratinocytes
McGuire J, Fedarko N, Johanssen E, LaVigne J, Lyons G, Milstone L, Osber M. The influence of retinoids on cultivated human keratinocytes. Journal Of The American Academy Of Dermatology 1982, 6: 630-639. PMID: 6175669, DOI: 10.1016/s0190-9622(82)70052-0.Peer-Reviewed Original ResearchConceptsInfluence of retinoidsFetal bovine serumStratified squamous epitheliumTrans retinoic acidInteraction of keratinocytesSquamous epitheliumBovine serumVitamin AVitamin A.Cultured keratinocytesHuman keratinocytesRetinoidsKeratinocytesEagle's mediumSerumKeratin polypeptidesFormation of coloniesHigh levels
1980
Changing concepts of keratin
Milstone L. Changing concepts of keratin. American Journal Of Dermatopathology 1980, 2: 161-163. PMID: 6166212, DOI: 10.1097/00000372-198000220-00013.Commentaries, Editorials and Letters