Associated Papers
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Zaman Q et al.
Gene, 2024
MC1R signaling through the cAMP-CREB/ATF-1 and ERK-NFκB pathways accelerates G1/S transition promoting breast cancer progression.
Chelakkot VS et al.
Npj Precision Oncology, 2023
Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity.
Kempf E et al.
Nature Metabolism, 2022
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
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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
Morgan MD et al.
Nature Communications, 2018
Germline MC1R status influences somatic mutation burden in melanoma.
Robles-Espinoza CD et al.
Nature Communications, 2016
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Hepp D et al.
Plos One, 2015
A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.
Hu HH et al.
Biomed Research International, 2014
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
MC1R gene mutation and its association with oculocutaneous albinism type (OCA) phenotype in a consanguineous Pakistani family.
Saleha SB et al.
Journal of Dermatological Science, 2013
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
MC1R variant alleles and malignant melanoma risk in Israel.
Galore-Haskel G et al.
European Journal of Cancer (oxford, England : 1990), 2009
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
MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas.
Liboutet M et al.
The Journal of Investigative Dermatology, 2006