2016
Germline MC1R status influences somatic mutation burden in melanoma
Robles-Espinoza CD, Roberts ND, Chen S, Leacy FP, Alexandrov LB, Pornputtapong N, Halaban R, Krauthammer M, Cui R, Timothy Bishop D, Adams DJ. Germline MC1R status influences somatic mutation burden in melanoma. Nature Communications 2016, 7: 12064. PMID: 27403562, PMCID: PMC4945874, DOI: 10.1038/ncomms12064.Peer-Reviewed Original ResearchMeSH KeywordsAgedAllelesCohort StudiesFemaleGenetic Predisposition to DiseaseGenetic VariationGerm-Line MutationHair ColorHead and Neck NeoplasmsHumansMaleMelanomaMelanosisMiddle AgedMutationMutation AccumulationNeoplasm InvasivenessPolymorphism, Single NucleotideReceptor, Melanocortin, Type 1Skin NeoplasmsSkin PigmentationConceptsR allelePhenotypic risk factorsCutaneous melanoma riskYears of ageSomatic mutation burdenRisk factorsMutation burdenSun exposureGeneral populationMelanoma riskMutational burdenSun sensitivityMC1R statusMajor genetic determinantMelanoma developmentReceptor geneT mutationMelanomaRed hairGenetic determinantsMutation classesDisruptive variantsBurdenAllelesMelanocortin 1 receptor (MC1R) gene
1993
Molecular analyses of a tyrosinase-negative albino family.
Park K, Chintamaneni C, Halaban R, Witkop C, Kwon B. Molecular analyses of a tyrosinase-negative albino family. American Journal Of Human Genetics 1993, 52: 406-13. PMID: 8430701, PMCID: PMC1682201.Peer-Reviewed Original ResearchMeSH KeywordsAlbinism, OculocutaneousBase SequenceBlotting, NorthernBlotting, SouthernChildDNA Mutational AnalysisElectrophoresis, Polyacrylamide GelFemaleFrameshift MutationGene LibraryGlycosylationHumansMaleMelanocytesMolecular Sequence DataMonophenol MonooxygenaseMutationPedigreePoint MutationPolymerase Chain ReactionPrecipitin TestsSequence DeletionConceptsAmino acid changesAcid changesPutative amino acid changesPremature termination signalTwo-nucleotide deletionSingle base substitutionTermination signalGel electrophoretic analysisN-glycosylationCDNA libraryBase pair deletionCodon 355Genomic DNAHomologous allelesNucleotide substitutionsSequence analysisMolecular analysisMissense mutationsTwo-base deletionExon 1Electrophoretic analysisCodon 226Exon 3AllelesTyrosinase-negative oculocutaneous albinism