Associated Papers
Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Melanoma-associated melanocortin 1 receptor variants confer redox signaling-dependent protection against oxidative DNA damage.
Castejón-Griñán M et al.
Redox Biology, 2024
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
Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi.
Calbet-Llopart N et al.
Pigment Cell & Melanoma Research, 2020
Sequence characterization and polymorphism of melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia.
Ganbold O et al.
Asian-australasian Journal of Animal Sciences, 2019
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
Morgan MD et al.
Nature Communications, 2018
cAMP-independent non-pigmentary actions of variant melanocortin 1 receptor: AKT-mediated activation of protective responses to oxidative DNA damage.
Castejón-Griñán M et al.
Oncogene, 2018
MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation.
Schaefer IM et al.
Nature Communications, 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
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Tell-Marti G et al.
Annals of Neurology, 2015
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Hepp D et al.
Plos One, 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
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
Clinical characteristics of patients with cutaneous melanoma according to variants in the melanocortin 1 receptor gene.
Peña-Vilabelda MM et al.
Actas Dermo-sifiliograficas, 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
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
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
Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.
Casula M et al.
Bmc Cancer, 2009
Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences.
Fontanesi L et al.
Bmc Genetics, 2009
MC1R variant alleles and malignant melanoma risk in Israel.
Galore-Haskel G et al.
European Journal of Cancer (oxford, England : 1990), 2009
Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients.
Council ML et al.
Experimental Dermatology, 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
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.
Pastorino L et al.
Pigment Cell & Melanoma Research, 2008
The loci of evolution: how predictable is genetic evolution?
Stern DL et al.
Evolution; International Journal of Organic Evolution, 2008
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
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 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
Melanocortin-1 receptor structure and functional regulation.
García-Borrón JC et al.
Pigment Cell Research, 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
Association between endothelin receptor B nonsynonymous variants and melanoma risk.
Soufir N et al.
Journal of the National Cancer Institute, 2005
Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations.
Goldstein AM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005