2018
65 Melanocyte Biology
Bolognia J, Orlow S. 65 Melanocyte Biology. 2018, 1075-1086.e1. DOI: 10.1016/b978-0-7020-6275-9.00065-9.Peer-Reviewed Original ResearchMelanin biosynthetic pathwayProduction of eumelaninMelanocortin 1 receptorBiosynthetic pathwayTransfer to keratinocytesPigment productionMelanin synthesisBrown-blackMelanocyte stimulating hormoneMelanosomesIntracytoplasmic organellesPheomelaninMelaninMelanocytesOrganellesEnzymeActivity of melanocytesPathwayBindingEumelaninNormal skin colorSkin colorTyrosinase
2015
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population
Shahzad M, Campos J, Tariq N, Serrano C, Yousaf R, Jiménez‐Cervantes C, Yousaf S, Waryah YM, Dad HA, Blue EM, Sobreira N, López‐Giráldez F, Genomics U, Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García‐Borrón J, Ahmed ZM. Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population. Pigment Cell & Melanoma Research 2015, 28: 730-735. PMID: 26197705, PMCID: PMC4609612, DOI: 10.1111/pcmr.12400.Peer-Reviewed Original ResearchConceptsPlasma membraneReduced plasma membrane expressionImpaired cell surface expressionPlasma membrane expressionGs protein-coupled receptorsProtein-coupled receptorsAgonist-induced signalingMelanocortin 1 receptorHeterologous HEK293 cellsCell surface expressionMC1R mutationsConfocal imaging studiesFunction allelesCausative allelesFunctional characterizationMutant allelesERK pathwayWhole-exome sequencingFrame deletionHEK293 cellsTyr298Pakistani familyHEK cellsMembrane expressionNonsense mutation
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
1999
Compounds That Activate the Mouse Melanocortin-1 Receptor Identified by Screening a Small Molecule Library Based upon the β-Turn
Haskell-Luevano C, Rosenquist Å, Souers A, Khong K, Ellman J, Cone R. Compounds That Activate the Mouse Melanocortin-1 Receptor Identified by Screening a Small Molecule Library Based upon the β-Turn. Journal Of Medicinal Chemistry 1999, 42: 4380-4387. PMID: 10543881, DOI: 10.1021/jm990190s.Peer-Reviewed Original ResearchConceptsMelanocortin 1 receptorMelanocyte receptorsAgonist activityScreening processReceptorsSkin pigmentationPhe-ArgSmall molecule libraries
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