Associated Papers
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
Human melanocortin 1 receptor-mediated ubiquitination of nonvisual arrestins. Role of Mahogunin Ring Finger 1 E3 ligase.
Abrisqueta M et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
MC1R signaling. Intracellular partners and pathophysiological implications.
Herraiz C et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.
Tell-Marti G et al.
Annals of Neurology, 2015
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Hepp D et al.
Plos One, 2015
MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.
García-Borrón JC et al.
Pigment Cell & Melanoma Research, 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
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
N-glycosylation of the human melanocortin 1 receptor: occupancy of glycosylation sequons and functional role.
Herraiz C et al.
Pigment Cell & Melanoma Research, 2011
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
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.
Kanetsky PA et al.
Cancer Research, 2006
Melanocortin 1 receptor variants: functional role and pigmentary associations.
Dessinioti C et al.
Photochemistry and Photobiology, 0
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