2001
The Melanocortin-1 Receptor: Red Hair and Beyond
Schaffer J, Bolognia J. The Melanocortin-1 Receptor: Red Hair and Beyond. JAMA Dermatology 2001, 137: 1477-1485. PMID: 11708951, DOI: 10.1001/archderm.137.11.1477.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsMelanocortin 1 receptorTransmembrane-spanning domainsG protein-coupled receptorsProtein-coupled receptorsRed hair phenotypeHuman pigmentationPigmentation phenotypesHair phenotypePheomelanin synthesisRed hairType of melaninHeterozygote effectUV-induced melanogenesisNonmelanoma skin cancerPhenotypeDecreased abilityReceptorsKey roleMelanocortin receptorsSkin cancerLociGeneticsFair skinPhysiologic variationsVariants
1993
Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s).
Petty E, Gibson L, Fountain J, Bolognia J, Yang-Feng T, Housman D, Bale A. Molecular definition of a chromosome 9p21 germ-line deletion in a woman with multiple melanomas and a plexiform neurofibroma: implications for 9p tumor-suppressor gene(s). American Journal Of Human Genetics 1993, 53: 96-104. PMID: 8317504, PMCID: PMC1682234.Peer-Reviewed Original ResearchConceptsCutaneous malignant melanomaGerm-line deletionMalignant melanomaPrimary malignant melanomaMelanoma predisposition genePlexiform neurofibromaPulsed-field gel electrophoresisMultiple melanomasPredisposition genesMelanoma tumorigenesisMelanomaTandem repeat polymorphismCytogenetic rearrangementsPatient's DNAHigh-resolution karyotypeMode of inheritanceWomen