Associated Papers
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
Jensen MR et al.
Hgg Advances, 2023
Effect of polymorphisms in the 5'-flanking sequence of MC1R on feather color in Taihang chickens.
Fan Y et al.
Poultry Science, 2022
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Kempf E et al.
Nature Metabolism, 2022
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
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
A Randomized Trial of Precision Prevention Materials to Improve Primary and Secondary Melanoma Prevention Activities among Individuals with Limited Melanoma Risk Phenotypes.
Lacson JCA et al.
Cancers, 2021
The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.
Ozola A et al.
Oncology Letters, 2019
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
Morgan MD et al.
Nature Communications, 2018
The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.
Tell-Marti G et al.
Molecular Neurobiology, 2017
A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.
Tell-Marti G et al.
Journal of Alzheimer's Disease : Jad, 2017
Germline MC1R status influences somatic mutation burden in melanoma.
Robles-Espinoza CD et al.
Nature Communications, 2016
Interactions of allele E of the MC1R gene with FM and mutations in the MLPH gene cause the five-gray phenotype in the Anyi tile-like gray chicken.
Xu JG et al.
Genetics and Molecular Research : Gmr, 2016
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Tell-Marti G et al.
Annals of Neurology, 2015
Dermoscopic features of cutaneous melanoma are associated with clinical characteristics of patients and tumours and with MC1R genotype.
Fargnoli MC et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2014
The melanocortin 1 receptor (Mc1r) variants do not account for the co-occurrence of Parkinson's disease and malignant melanoma.
Elincx-Benizri S et al.
Journal of Molecular Neuroscience : Mn, 2014
Association between polymorphism in the melanocortin 1 receptor gene and E locus plumage color phenotype.
Dávila SG et al.
Poultry Science, 2014
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
Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.
Martínez-Cadenas C et al.
Molecular Biology and Evolution, 2013
Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.
Puig-Butillé JA et al.
The British Journal of Dermatology, 2013
Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.
Guan X et al.
Pigment Cell & Melanoma Research, 2013
Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.
Ozola A et al.
Cancer Genetics, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.
Cust AE et al.
International Journal of Cancer, 2012
MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.
Helsing P et al.
Genes, Chromosomes & Cancer, 2012
Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.
Casula M et al.
Bmc Cancer, 2009
MC1R variant alleles and malignant melanoma risk in Israel.
Galore-Haskel G et al.
European Journal of Cancer (oxford, England : 1990), 2009
Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.
Bauer J et al.
Experimental Dermatology, 2009
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.
Pastorino L et al.
Pigment Cell & Melanoma Research, 2008
Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.
Peric B et al.
Bmc Medical Genetics, 2008
MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism.
Scherer D et al.
International Journal of Cancer, 2008
Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.
Savage SA et al.
Bmc Genetics, 2008
Comprehensive evaluation of allele frequency differences of MC1R variants across populations.
Gerstenblith MR et al.
Human Mutation, 2007
High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.
Hocevar M et al.
Croatian Medical Journal, 2006
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.
Kanetsky PA et al.
Cancer Research, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
MC1R germline variants confer risk for BRAF-mutant melanoma.
Landi MT et al.
Science (new York, N.y.), 2006
Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.
Fargnoli MC et al.
Melanoma Research, 2006
Melanocortin-1 receptor structure and functional regulation.
García-Borrón JC et al.
Pigment Cell Research, 2005
Detection of MC1R polymorphisms with protease-mediated allele-specific extension as an alternative to direct sequencing.
Käller M et al.
Clinical Chemistry, 2005
The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.
Wong TH et al.
Peptides, 2005
MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.
Landi MT et al.
Journal of the National Cancer Institute, 2005
Novel MC1R variants in Ligurian melanoma patients and controls.
Pastorino L et al.
Human Mutation, 2004
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
Duffy DL et al.
Human Molecular Genetics, 2004
Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population.
Fargnoli MC et al.
Human Mutation, 2003