Associated Papers
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S9._Germline_VUS
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
A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.
Hu HH et al.
Biomed Research International, 2014
Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features.
Quint KD et al.
Acta Dermato-venereologica, 2012
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
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
Melanocortin-1 receptor structure and functional regulation.
García-Borrón JC et al.
Pigment Cell Research, 2005
Novel MC1R variants in Ligurian melanoma patients and controls.
Pastorino L et al.
Human Mutation, 2004
Role of MC1R variants in uveal melanoma.
Hearle N et al.
British Journal of Cancer, 2003
Melanocortin 1 receptor variants: functional role and pigmentary associations.
Dessinioti C et al.
Photochemistry and Photobiology, 0
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