Associated Papers
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
Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.
Li X et al.
Peerj, 2017
New variants in the melanocortin 1 receptor gene (MC1R) in Asian cattle.
Zhang Y et al.
Animal Genetics, 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
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
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.
Yamaguchi K et al.
Journal of Human Genetics, 2012
Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.
Ibarrola-Villava M et al.
Experimental Dermatology, 2010
Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.
Casula M et al.
Bmc Cancer, 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
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
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
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
Novel MC1R variants in Ligurian melanoma patients and controls.
Pastorino L et al.
Human Mutation, 2004
Evolution of a pigmentation gene, the melanocortin-1 receptor, in primates.
Mundy NI et al.
American Journal of Physical Anthropology, 2003