Associated Papers
Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.
Neitzke-Montinelli V et al.
Plos One, 2022
35452484 (PubMed )
Supplement: pone.0267286.s002.xlsx › S2_Table_
Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.
Moore BS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
34326492 (PubMed )
Supplement: NIHMS1754145-supplement-Supplemental_Table_2.xlsx › Sheet1
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Tell-Marti G et al.
Annals of Neurology, 2015
Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.
Ibarrola-Villava M et al.
The Journal of Investigative Dermatology, 2014
A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.
Hu HH et al.
Biomed Research International, 2014
Functional status and relationships of melanocortin 1 receptor signaling to the cAMP and extracellular signal-regulated protein kinases 1 and 2 pathways in human melanoma cells.
Herraiz C et al.
The International Journal of Biochemistry & Cell Biology, 2012
N-glycosylation of the human melanocortin 1 receptor: occupancy of glycosylation sequons and functional role.
Herraiz C et al.
Pigment Cell & Melanoma Research, 2011
Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.
Ibarrola-Villava M et al.
Experimental Dermatology, 2010
Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.
Pérez Oliva AB et al.
Human Mutation, 2009
MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.
Fernandez L et al.
Carcinogenesis, 2007
Comprehensive evaluation of allele frequency differences of MC1R variants across populations.
Gerstenblith MR et al.
Human Mutation, 2007
MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas.
Liboutet M et al.
The Journal of Investigative Dermatology, 2006
Melanocortin 1 receptor variants: functional role and pigmentary associations.
Dessinioti C et al.
Photochemistry and Photobiology, 0
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