Associated Papers
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
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
Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.
Li X et al.
Peerj, 2017
Whole-exome sequencing confirmation of multiple MC1R variants associated with extensive freckles and red hair: Analysis of a Mongolian family.
Araki Y et al.
Journal of Dermatological Science, 2016
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.
Lasorsa VA et al.
Oncotarget, 2016
27009842 (PubMed )
Supplement: oncotarget-07-21840-s008.xlsx › Supplementary_Table_7
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
Shahzad M et al.
Pigment Cell & Melanoma Research, 2015
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Hepp D et al.
Plos One, 2015
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
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.
Kanetsky PA et al.
Cancer Research, 2006
MC1R germline variants confer risk for BRAF-mutant melanoma.
Landi MT et al.
Science (new York, N.y.), 2006
16809487 (PubMed )
Supplement: landi_som.pdf
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