Associated Papers
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Zaman Q et al.
Gene, 2024
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
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Hepp D et al.
Plos One, 2015
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
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
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
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
The loci of evolution: how predictable is genetic evolution?
Stern DL et al.
Evolution; International Journal of Organic Evolution, 2008
Comprehensive evaluation of allele frequency differences of MC1R variants across populations.
Gerstenblith MR et al.
Human Mutation, 2007
Determination of phenotype associated SNPs in the MC1R gene.
Branicki W et al.
Journal of Forensic Sciences, 2007
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
Melanocortin-1 receptor structure and functional regulation.
García-Borrón JC et al.
Pigment Cell Research, 2005
Alpha-melanocyte-stimulating hormone suppresses antigen-induced lymphocyte proliferation in humans independently of melanocortin 1 receptor gene status.
Cooper A et al.
Journal of Immunology (baltimore, Md. : 1950), 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
Four novel variants in MC1R in red-haired South African individuals of European descent: S83P, Y152X, A171D, P256S.
John PR et al.
Human Mutation, 2002
MC1R gene polymorphism affects skin color and phenotypic features related to sun sensitivity in a population of French adult women.
Latreille J et al.
Photochemistry and Photobiology, 0