2015
Frequent 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
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
1996
CD44 Expression on Epidermal Melanocytes
Herbold K, Zhou J, Haggerty J, Milstone L. CD44 Expression on Epidermal Melanocytes. Journal Of Investigative Dermatology 1996, 106: 1230-1235. PMID: 8752662, DOI: 10.1111/1523-1747.ep12348871.Peer-Reviewed Original Research
1992
The Core Protein of Epican, a Heparan Sulfate Proteoglycan on Keratinocytes, Is an Alternative Form of CD44
Kugelman L, Ganguly S, Haggerty J, Weissman S, Milstone L. The Core Protein of Epican, a Heparan Sulfate Proteoglycan on Keratinocytes, Is an Alternative Form of CD44. Journal Of Investigative Dermatology 1992, 99: 887-891. PMID: 1281868, DOI: 10.1111/1523-1747.ep12614896.Peer-Reviewed Original ResearchConceptsHeparan sulfate proteoglycanCore proteinForm of CD44Human keratinocyte cDNA libraryDeduced protein sequenceAmino acid domainProximal extracellular domainKeratinocyte cDNA librarySulfate proteoglycanAcid domainCDNA libraryProtein sequencesGlycosylation sitesProteolysis siteExtracellular domainAdditional domainsAmino acidsProteinEpicanLeukocyte formCD44ProteoglycansDomainMonoclonal antibodiesKeratinocytesParathyroid hormone-related protein. Evidence for secretion of a novel mid-region fragment by three different cell types.
Soifer NE, Dee KE, Insogna KL, Burtis WJ, Matovcik LM, Wu TL, Milstone LM, Broadus AE, Philbrick WM, Stewart AF. Parathyroid hormone-related protein. Evidence for secretion of a novel mid-region fragment by three different cell types. Journal Of Biological Chemistry 1992, 267: 18236-18243. PMID: 1517251, DOI: 10.1016/s0021-9258(19)37178-9.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsCarcinoma, Renal CellCell LineElectrophoresis, Polyacrylamide GelFluorescent Antibody TechniqueHumansImmunohistochemistryKidney NeoplasmsKineticsMolecular Sequence DataParathyroid HormoneParathyroid Hormone-Related ProteinPeptide FragmentsProtein BiosynthesisProteinsTransfectionConceptsMid-region fragmentCell typesSecretory formBasic amino acid motifHormone-related proteinAmino acid motifsImportant biological functionsAmino acid sequenceExtensive post-translational processingPost-translational processingDifferent cell typesHuman renal carcinoma cellsInterspecies conservationSodium dodecyl sulfate-polyacrylamide gel electrophoresis analysisRenal carcinoma cellsAcid motifGel electrophoresis analysisAcid sequenceBiological functionsParathyroid hormone-related proteinRegion-specific immunoassaysRat insulinoma cellsCell extractsCleavage siteAmino acids
1988
Two 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 ResearchIdentification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy.
Mangin M, Webb A, Dreyer B, Posillico J, Ikeda K, Weir E, Stewart A, Bander N, Milstone L, Barton D. Identification of a cDNA encoding a parathyroid hormone-like peptide from a human tumor associated with humoral hypercalcemia of malignancy. Proceedings Of The National Academy Of Sciences Of The United States Of America 1988, 85: 597-601. PMID: 2829195, PMCID: PMC279598, DOI: 10.1073/pnas.85.2.597.Peer-Reviewed Original ResearchConceptsParathyroid hormone-like peptideHumoral hypercalcemiaHormone-like peptideCommon paraneoplastic syndromeTumor-derived peptidesHuman renal carcinomaParaneoplastic syndromeNormal human keratinocytesHuman PTHRenal carcinomaHuman tumorsSyndromeHuman keratinocytesHypercalcemiaMalignancyBlot analysisTumorsRNA blot hybridization analysisPartial N-terminal amino acid sequencePeptidesMRNABlot hybridization analysisMature peptideCarcinomaPTH