Associated Papers
UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.
Liebmann A et al.
Ebiomedicine, 2023
Phenotypic and Genetic Features that Differ Between Hereditary and Sporadic Melanoma: Results of a Preliminary Study from a Single Center from Turkey.
Cakir A et al.
Dermatology Practical & Conceptual, 2023
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
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
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.
Dannemann M et al.
American Journal of Human Genetics, 2017
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Lubbe SJ et al.
Neurobiology of Aging, 2016
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Hepp D et al.
Plos One, 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
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
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
Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.
Ibarrola-Villava M et al.
Experimental Dermatology, 2010
Relationship between germline MC1R variants and BRAF-mutant melanoma in a North Carolina population-based study.
Thomas NE et al.
The Journal of Investigative Dermatology, 2010
The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
Brudnik U 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
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
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
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
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
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
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
Novel MC1R variants in Ligurian melanoma patients and controls.
Pastorino L et al.
Human Mutation, 2004
Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population.
Fargnoli MC et al.
Human Mutation, 2003
Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients.
Metzelaar-Blok JA et al.
Investigative Ophthalmology & Visual Science, 2001
Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.
Kennedy C et al.
The Journal of Investigative Dermatology, 2001
Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.
Bastiaens MT et al.
American Journal of Human Genetics, 2001