2018
Mutations in PERP Cause Dominant and Recessive Keratoderma
Duchatelet S, Boyden LM, Ishida-Yamamoto A, Zhou J, Guibbal L, Hu R, Lim YH, Bole-Feysot C, Nitschké P, Santos-Simarro F, de Lucas R, Milstone LM, Gildenstern V, Helfrich YR, Attardi LD, Lifton RP, Choate KA, Hovnanian A. Mutations in PERP Cause Dominant and Recessive Keratoderma. Journal Of Investigative Dermatology 2018, 139: 380-390. PMID: 30321533, PMCID: PMC6586468, DOI: 10.1016/j.jid.2018.08.026.Peer-Reviewed Original ResearchConceptsC-terminal truncationsIntercellular adhesionEpidermal biologyEpidermal differentiation markersEpidermal homeostasisDesmosomal componentsDesmosomal proteinsGenetic determinantsDifferentiation markersEssential roleMutationsUnrelated kindredsDesmosomesProteinPERPOlmsted syndromePalmoplantar keratodermaGenesCrucial componentHeterozygosityBiologyHomeostasisKeratinization disordersKeratodermaHomozygosity
2006
Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome)
Demerjian M, Crumrine DA, Milstone LM, Williams ML, Elias PM. Barrier Dysfunction and Pathogenesis of Neutral Lipid Storage Disease with Ichthyosis (Chanarin–Dorfman Syndrome). Journal Of Investigative Dermatology 2006, 126: 2032-2038. PMID: 16741516, DOI: 10.1038/sj.jid.5700332.Peer-Reviewed Original ResearchConceptsNeutral lipid storage diseaseLipid storage diseaseBasal permeability barrier functionIchthyosiform erythrodermaType 2 Gaucher's diseaseSC intersticesStorage diseaseLamellar bodiesStratum corneum integrityBarrier recovery rateSecretion of lipidsAtopic dermatitisUnifying pathogenic mechanismBarrier dysfunctionPathogenic mechanismsTissue biopsiesPermeability barrier functionMultisystem abnormalitiesBarrier abnormalitiesClinical diagnosisLipid metabolismBlood smearsGaucher diseaseCGI-58Neutral lipid droplets
1992
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
Smith L, Wertelecki W, Milstone L, Petty E, Seashore M, Braverman I, Jenkins T, Byers P. Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. American Journal Of Human Genetics 1992, 51: 235-44. PMID: 1642226, PMCID: PMC1682688.Peer-Reviewed Original ResearchConceptsAmino-terminal propeptideFragile skinType IConnective tissue disordersEhlers-Danlos syndromeLax jointsType VIIAffected animalsSkinChildrenCultured fibroblastsNormal cellsEhlers-Danlos syndrome type VIIPro alphaDisordersPropeptideAlphaDermatosparaxisProteolytic processingSepsisN-proteinaseCellsSyndromeCollagen fibrils
1982
Retinoic Acid Causes Premature Desquamation of Cells from Confluent Cultures of Stratified Squamous Epithelia
Milstone L, McGuire J, Lavigne J. Retinoic Acid Causes Premature Desquamation of Cells from Confluent Cultures of Stratified Squamous Epithelia. Journal Of Investigative Dermatology 1982, 79: 253-260. PMID: 7130743, DOI: 10.1111/1523-1747.ep12500073.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCattleCells, CulturedDNAEpitheliumEsophagusHumansMaleMicroscopy, ElectronPenisProteinsSkinTime FactorsTretinoin
1973
Differentiation of lens fibers in explanted embryonic chick lens epithelia
Piatigorsky J, Rothschild S, Milstone L. Differentiation of lens fibers in explanted embryonic chick lens epithelia. Developmental Biology 1973, 34: 334-345. PMID: 4596973, DOI: 10.1016/0012-1606(73)90362-x.Peer-Reviewed Original ResearchConceptsChick lens epitheliumLens epitheliumLens fibersLens epithelial cellsRibosomal clustersRibosomal RNADelta-crystallinTissue cultureSingle-strand breaksFiber differentiationCell membraneLong cellsMean cell lengthCell lengthTotal RNACellular outgrowthDifferentiationEpithelial cellsSurface membraneRNAOrganelle densityChick embryosGranular matrixBiochemical changesCells