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
1994
Characterization of Mouse Pmel 17 Gene and Silver Locus
KWON B, KIM K, HALABAN R, PICKARD R. Characterization of Mouse Pmel 17 Gene and Silver Locus. Pigment Cell & Melanoma Research 1994, 7: 394-397. PMID: 7761347, DOI: 10.1111/j.1600-0749.1994.tb00067.x.Peer-Reviewed Original ResearchConceptsCDNA clonesPutative cytoplasmic tailPmel 17Amino acidsC-terminal amino acidsSingle nucleotide insertionSilver locusGenomic regionsCytoplasmic tailCarboxyl terminusC-terminusMurine melanocytesNucleotide insertionMutation sitesProteinClonesGenesTerminusLociMajor defectsMutationsResiduesAcidMelanocytesInsertion
1990
Recent Advances in the Molecular Biology of Pigmentation: Mouse Models
Halaban R, Moellmann G. Recent Advances in the Molecular Biology of Pigmentation: Mouse Models. Pigment Cell & Melanoma Research 1990, 3: 67-78. PMID: 1409441, DOI: 10.1111/j.1600-0749.1990.tb00352.x.Peer-Reviewed Original Research