Associated Papers
Meier-Gorlin Syndrome: Clinical Misdiagnosis, Genetic Testing and Functional Analysis of ORC6 Mutations and the Development of a Prenatal Test.
Nazarenko MS et al.
International Journal of Molecular Sciences, 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
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
A genome-wide scan study identifies a single nucleotide substitution in MC1R gene associated with white coat colour in fallow deer (Dama dama).
Reiner G et al.
Bmc Genetics, 2020
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Lubbe SJ et al.
Neurobiology of Aging, 2016
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Tell-Marti G et al.
Annals of Neurology, 2015
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
Wadt KA et al.
Plos One, 2015
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
Functional status and relationships of melanocortin 1 receptor signaling to the cAMP and extracellular signal-regulated protein kinases 1 and 2 pathways in human melanoma cells.
Herraiz C et al.
The International Journal of Biochemistry & Cell Biology, 2012
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
N-glycosylation of the human melanocortin 1 receptor: occupancy of glycosylation sequons and functional role.
Herraiz C et al.
Pigment Cell & Melanoma Research, 2011
Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.
Scherer D et al.
International Journal of Cancer, 2009
Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.
Pérez Oliva AB et al.
Human Mutation, 2009
Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.
Savage SA et al.
Bmc Genetics, 2008
Comprehensive evaluation of allele frequency differences of MC1R variants across populations.
Gerstenblith MR et al.
Human Mutation, 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
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
Interactive effects of MC1R and OCA2 on melanoma risk phenotypes.
Duffy DL et al.
Human Molecular Genetics, 2004
Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population.
Fargnoli MC et al.
Human Mutation, 2003
Evolution of a pigmentation gene, the melanocortin-1 receptor, in primates.
Mundy NI et al.
American Journal of Physical Anthropology, 2003
Melanocortin 1 receptor variants: functional role and pigmentary associations.
Dessinioti C et al.
Photochemistry and Photobiology, 0