Associated Papers
A Nonsynonymous Single-nucleotide Polymorphism in SLC24A5 Regulates Feather Pigment Deposition in Chinese Yellow Quail.
Zhang X et al.
The Journal of Poultry Science, 2025
Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe-Based Melting Curve Analysis.
Soejima M et al.
Human Mutation, 2025
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Ang KC et al.
Elife, 2023
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
Cellular localization of the K+ -dependent Na+ -Ca2+ exchanger NCKX5 and the role of the cytoplasmic loop in its distribution in pigmented cells.
Rogasevskaia TP et al.
Pigment Cell & Melanoma Research, 2019
Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria.
Veeramah KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Skin Pigmentation Genetics for the Clinic.
Ainger SA et al.
Dermatology (basel, Switzerland), 2017
A functional approach to understanding the role of NCKX5 in Xenopus pigmentation.
Williams RM et al.
Plos One, 2017
An ethnically relevant consensus Korean reference genome is a step towards personal reference genomes.
Cho YS et al.
Nature Communications, 2016
A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.
Jalloul AH et al.
The Journal of Biological Chemistry, 2016
Iris pigmentation as a quantitative trait: variation in populations of European, East Asian and South Asian ancestry and association with candidate gene polymorphisms.
Edwards M et al.
Pigment Cell & Melanoma Research, 2016
Ancient human genomes suggest three ancestral populations for present-day Europeans.
Lazaridis I et al.
Nature, 2014
Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.
Olalde I et al.
Nature, 2014
Molecular phylogeography of a human autosomal skin color locus under natural selection.
Canfield VA et al.
G3 (bethesda, Md.), 2013
Polymorphisms of four pigmentation genes (SLC45A2, SLC24A5, MC1R and TYRP1) among eleven endogamous populations of India.
Mukherjee M et al.
Journal of Genetics, 2013
Genetic architecture of skin and eye color in an African-European admixed population.
Beleza S et al.
Plos Genetics, 2013
Association of melanogenesis genes with skin color variation among Japanese females.
Abe Y et al.
Journal of Dermatological Science, 2013
NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha-MSH and alters cholesterol homeostasis in normal human melanocytes.
Wilson S et al.
Advances in Experimental Medicine and Biology, 2013
Skin color variation in Orang Asli tribes of Peninsular Malaysia.
Ang KC et al.
Plos One, 2012
Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.
Tsetskhladze ZR et al.
Plos One, 2012
Evidence for hitchhiking of deleterious mutations within the human genome.
Chun S et al.
Plos Genetics, 2011
A map of human genome variation from population-scale sequencing.
Abecasis GR et al.
Nature, 2010
DNA polymorphisms: what they are and their role in human pigmentation.
Kosmadaki MG et al.
Actas Dermo-sifiliograficas, 2009
Pigment phenotype and biogeographical ancestry from ancient skeletal remains: inferences from multiplexed autosomal SNP analysis.
Bouakaze C et al.
International Journal of Legal Medicine, 2009
Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci.
Cook AL et al.
The Journal of Investigative Dermatology, 2009
The golden gene (SLC24A5) differentiates US sub-populations within the ethnically admixed Y-SNP haplogroups.
Sims LM et al.
Legal Medicine (tokyo, Japan), 2008
SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis.
Ginger RS et al.
The Journal of Biological Chemistry, 2008
Prevalence of common disease-associated variants in Asian Indians.
Pemberton TJ et al.
Bmc Genetics, 2008
A genomewide association study of skin pigmentation in a South Asian population.
Stokowski RP et al.
American Journal of Human Genetics, 2007
Genome-wide detection and characterization of positive selection in human populations.
Sabeti PC et al.
Nature, 2007
Distribution of two Asian-related coding SNPs in the MC1R and OCA2 genes.
Yuasa I et al.
Biochemical Genetics, 2007
Population differences of two coding SNPs in pigmentation-related genes SLC24A5 and SLC45A2.
Soejima M et al.
International Journal of Legal Medicine, 2007