Associated Papers
Detection of MC1R Genetic Variants and Their Association with Coat Color in Asian Goats.
Kawaguchi F et al.
Animals : an Open Access Journal From Mdpi, 2025
Mapping and annotating genomic loci to prioritize genes and implicate distinct polygenic adaptations for skin color.
Kim B et al.
Nature Communications, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
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 analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 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
Novel pathogenic variants in KIT gene in three Chinese piebaldism patients.
Wang C et al.
Frontiers in Medicine, 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
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.
Li N et al.
Npj Breast Cancer, 2021
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
Acquired melanocytic naevus phenotypes and MC1R genotypes in Han Chinese: a cross-sectional study.
Li X et al.
Peerj, 2017
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
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Hepp D et al.
Plos One, 2015
Novel mutations of KIT gene in two Korean patients: variegated shades of phenotypes in tyrosine kinase 1 domain.
Lee H et al.
Journal of Dermatological Science, 2014
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
A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.
Yang YJ et al.
Biomed Research International, 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
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
Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.
Scherer D et al.
International Journal of Cancer, 2009
A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene.
Oiso N et al.
The British Journal of Dermatology, 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
MC1R variation and melanoma risk in the Swedish population in relation to clinical and pathological parameters.
Höiom V et al.
Pigment Cell & Melanoma Research, 2009
The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
Brudnik U et al.
Experimental Dermatology, 2009
CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.
Pastorino L et al.
Pigment Cell & Melanoma Research, 2008
Lack of somatic alterations of MC1R in primary melanoma.
Kim RD et al.
Pigment Cell & Melanoma Research, 2008
MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism.
Scherer D et al.
International Journal of Cancer, 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
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
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