Associated Papers
Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression.
Amin M et al.
International Journal of Molecular Sciences, 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
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
Identification of Signatures of Selection by Whole-Genome Resequencing of a Chinese Native Pig.
Zhang W et al.
Frontiers in Genetics, 2020
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 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
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.
Lasorsa VA et al.
Oncotarget, 2016
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Tell-Marti G et al.
Annals of Neurology, 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
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
Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.
Scherer D et al.
International Journal of 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
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
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
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas.
Liboutet M et al.
The Journal of Investigative Dermatology, 2006
[Genetic predisposition in cutaneous melanoma].
Avilés JA et al.
Actas Dermo-sifiliograficas, 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
Gene polymorphisms and their effects in the melanocortin system.
Carroll L 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
MC1R and the response of melanocytes to ultraviolet radiation.
Rouzaud F et al.
Mutation Research, 2005
Agonist-independent, high constitutive activity of the human melanocortin 1 receptor.
Sánchez-Más J et al.
Pigment Cell Research, 2004
Novel MC1R variants in Ligurian melanoma patients and controls.
Pastorino L et al.
Human Mutation, 2004
Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure.
Matichard E et al.
Journal of Medical Genetics, 2004
Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population.
Fargnoli MC et al.
Human Mutation, 2003
Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.
Jiménez-Cervantes C et al.
Febs Letters, 2001