Associated Papers
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Phenotypic and Genetic Features that Differ Between Hereditary and Sporadic Melanoma: Results of a Preliminary Study from a Single Center from Turkey.
Cakir A et al.
Dermatology Practical & Conceptual, 2023
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
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Li Y et al.
Frontiers in Oncology, 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
Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2021
Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.
Ma H et al.
Cancer Biomarkers : Section a of Disease Markers, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Systematic analysis of genetic variants in patients with essential tremor.
Yuan L et al.
Brain and Behavior, 2018
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.
Dannemann M et al.
American Journal of Human Genetics, 2017
Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.
Li X et al.
Peerj, 2017
Detrimental effects of melanocortin-1 receptor (MC1R) variants on the clinical outcomes of BRAF V600 metastatic melanoma patients treated with BRAF inhibitors.
Guida M et al.
Pigment Cell & Melanoma Research, 2016
MC1R variants in Chinese Han patients with sporadic Parkinson's disease.
Shi CH et al.
Neurobiology of Aging, 2016
Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.
He S et al.
Neuroscience Letters, 2016
Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.
Shen C et al.
Frontiers in Genetics, 2016
Nonsynonymous variants in MC1R are rare in Chinese Parkinson disease cases.
Foo JN et al.
Annals of Neurology, 2015
Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.
Yoshizawa J et al.
The Journal of Dermatology, 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
Association of melanogenesis genes with skin color variation among Japanese females.
Abe Y et al.
Journal of Dermatological Science, 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
Germline variation of the melanocortin-1 receptor does not explain shared risk for melanoma and thyroid cancer.
Bauer J et al.
Experimental Dermatology, 2009
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
Effect of Val92Met and Arg163Gln variants of the MC1R gene on freckles and solar lentigines in Japanese.
Motokawa T et al.
Pigment Cell Research, 2007
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.
Kanetsky PA et al.
Cancer Research, 2006
Melanocortin-1 receptor: loss of function mutations and skin cancer.
Mumm CD et al.
Dermatology Online Journal, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Identification of novel functional variants of the melanocortin 1 receptor gene originated from Asians.
Nakayama K et al.
Human Genetics, 2006
Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.
Fargnoli MC et al.
Melanoma Research, 2006
Characteristic MC1R polymorphism in the Japanese population.
Motokawa T et al.
Journal of Dermatological Science, 2006
Japanese single nucleotide polymorphism database for 267 possible drug-related genes.
Iida A et al.
Cancer Science, 2006
Melanocortin-1 receptor structure and functional regulation.
García-Borrón JC et al.
Pigment Cell Research, 2005
The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.
Wong TH et al.
Peptides, 2005
Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans.
Makova K et al.
Peptides, 2005
Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.
Ringholm A et al.
The Journal of Investigative Dermatology, 2004
Polymorphisms in the melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) genes in Korean vitiligo patients.
Na GY et al.
Pigment Cell Research, 2003
Identification of four novel melanocortin 1 receptor (MC1R) gene variants in a Mediterranean population.
Fargnoli MC et al.
Human Mutation, 2003
[SNP collection, pharmacogenomics, and the future of drug therapy].
Iida A et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002
Thr40 and Met122 are new partial loss-of-function natural mutations of the human melanocortin 1 receptor.
Jiménez-Cervantes C et al.
Febs Letters, 2001
Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population.
Akey JM et al.
Human Genetics, 2001
Melanocortin-1 receptor gene variants in four Chinese ethnic populations.
Peng S et al.
Cell Research, 2001
High polymorphism at the human melanocortin 1 receptor locus.
Rana BK et al.
Genetics, 1999
Human pigmentation genetics: the difference is only skin deep.
Sturm RA et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 1998