Associated Papers
Investigation of the MC1R Gene Sequence Variation Using Oxford Nanopore Sequencing.
Branicki W et al.
Electrophoresis, 2025
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
34326492 (PubMed )
Supplement: NIHMS1754145-supplement-Supplemental_Table_2.xlsx › Sheet1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
Shahzad M et al.
Pigment Cell & Melanoma Research, 2015
Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans.
Martínez-Cadenas C et al.
Molecular Biology and Evolution, 2013
Melanocortin-1 receptor: loss of function mutations and skin cancer.
Mumm CD et al.
Dermatology Online Journal, 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
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
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
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