Associated Papers
Low Mutation Load in a Supergene Underpinning Alternative Male Mating Strategies in Ruff (Calidris pugnax).
Hill J et al.
Molecular Biology and Evolution, 2023
MC1R signaling through the cAMP-CREB/ATF-1 and ERK-NFκB pathways accelerates G1/S transition promoting breast cancer progression.
Chelakkot VS et al.
Npj Precision Oncology, 2023
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
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
Vergani E et al.
Genes, 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
MC1R variants in childhood and adolescent melanoma: a retrospective pooled analysis of a multicentre cohort.
Pellegrini C et al.
The Lancet. Child & Adolescent Health, 2019
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
Morgan MD et al.
Nature Communications, 2018
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.
Dannemann M et al.
American Journal of Human Genetics, 2017
Germline MC1R status influences somatic mutation burden in melanoma.
Robles-Espinoza CD et al.
Nature Communications, 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
Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes.
Barón AE et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014
New variants in the melanocortin 1 receptor gene (MC1R) in Asian cattle.
Zhang Y et al.
Animal Genetics, 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
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
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
Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response.
Wu GS et al.
Psychiatric Genetics, 2011
Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.
Demenais F et al.
Journal of the National Cancer Institute, 2010
Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.
Ibarrola-Villava M et al.
Experimental Dermatology, 2010
Functional MC1R-gene variants are associated with increased risk for severe photoaging of facial skin.
Elfakir A et al.
The Journal of Investigative Dermatology, 2010
Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.
Scherer D et al.
International Journal of Cancer, 2009
Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.
Casula M et al.
Bmc Cancer, 2009
Evolution and phylogenetic utility of the melanocortin-1 receptor gene (MC1R) in Cetartiodactyla.
Ayoub NA et al.
Molecular Phylogenetics and Evolution, 2009
MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters.
Höiom V et al.
Pigment Cell & Melanoma Research, 2009
Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.
Savage SA et al.
Bmc Genetics, 2008
MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.
Fernandez L et al.
Carcinogenesis, 2007
Variations of the melanocortin-1 receptor and the glutathione-S transferase T1 and M1 genes in cutaneous malignant melanoma.
Mössner R et al.
Archives of Dermatological Research, 2007
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.
Kanetsky PA et al.
Cancer Research, 2006
Melanocortin-1 receptor: loss of function mutations and skin cancer.
Mumm CD et al.
Dermatology Online Journal, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.
Stratigos AJ et al.
The Journal of Investigative Dermatology, 2006
MC1R germline variants confer risk for BRAF-mutant melanoma.
Landi MT et al.
Science (new York, N.y.), 2006
MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas.
Liboutet M et al.
The Journal of Investigative Dermatology, 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
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
Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.
Ringholm A et al.
The Journal of Investigative Dermatology, 2004
CDKN2A and MC1R mutations in patients with sporadic multiple primary melanoma.
Peris K et al.
The Journal of Investigative Dermatology, 2004