Associated Papers
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.
Mercier E et al.
Plos Genetics, 2025
Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for Cataract.
Chaar DL et al.
Investigative Ophthalmology & Visual Science, 2025
Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.
Tovar-Parra D et al.
International Journal of Molecular Sciences, 2025
A Recessive oca2 Mutation Underlies Albinism in Xiphophorus fish.
Xing Y et al.
Biorxiv : the Preprint Server for Biology, 2025
Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights.
Bacci GM et al.
Scientific Reports, 2024
Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction.
Brancato D et al.
Genes, 2023
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.
Kidd KK et al.
Scientific Reports, 2020
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
The Genetic Germline Background of Single and Multiple Primary Melanomas.
De Summa S et al.
Frontiers in Molecular Biosciences, 2020
A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.
Adhikari K et al.
Nature Communications, 2019
Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.
Czyz M et al.
Journal of Oncology, 2019
Molecular characterization of a series of 990 index patients with albinism.
Lasseaux E et al.
Pigment Cell & Melanoma Research, 2018
Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.
Wei L et al.
The British Journal of Dermatology, 2017
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Lonjou C et al.
Bmc Cancer, 2017
Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.
Gao J et al.
Cell & Bioscience, 2017
Skin Pigmentation Genetics for the Clinic.
Ainger SA et al.
Dermatology (basel, Switzerland), 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
Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
Chahal HS et al.
Nature Communications, 2016
Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.
Chahal HS et al.
Nature Communications, 2016
Importance of nonsynonymous OCA2 variants in human eye color prediction.
Andersen JD et al.
Molecular Genetics & Genomic Medicine, 2016
Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: a systematic review.
Binstock M et al.
The British Journal of Dermatology, 2014
Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation.
Visser M et al.
Pigment Cell & Melanoma Research, 2014
Computational screening of disease-associated mutations in OCA2 gene.
Kamaraj B et al.
Cell Biochemistry and Biophysics, 2014
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR et al.
Human Mutation, 2013
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Germline melanoma susceptibility and prognostic genes: a review of the literature.
Ward KA et al.
Journal of the American Academy of Dermatology, 2012
A global view of the OCA2-HERC2 region and pigmentation.
Donnelly MP et al.
Human Genetics, 2012
The classical pink-eyed dilution mutation affects angiogenic responsiveness.
Rogers MS et al.
Plos One, 2012
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Preising MN et al.
Molecular Vision, 2011
Genotype-phenotype associations and human eye color.
White D et al.
Journal of Human Genetics, 2011
Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.
Duffy DL et al.
The Journal of Investigative Dermatology, 2010
Genetic determinants of hair and eye colours in the Scottish and Danish populations.
Mengel-From J et al.
Bmc Genetics, 2009
Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
Nan H et al.
International Journal of Cancer, 2009
Pigmentation-related genes and their implication in malignant melanoma susceptibility.
Fernandez LP et al.
Experimental Dermatology, 2009
Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
Iida R et al.
Cell Biochemistry and Function, 2009
Molecular genetics of human pigmentation diversity.
Sturm RA
Human Molecular Genetics, 2009
Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
Branicki W et al.
Annals of Human Genetics, 2009
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM et al.
The Journal of Investigative Dermatology, 2008
Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method.
Branicki W et al.
Annals of Human Genetics, 2008
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Hutton SM et al.
Investigative Ophthalmology & Visual Science, 2008
A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
Sturm RA et al.
American Journal of Human Genetics, 2008
A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
Duffy DL et al.
American Journal of Human Genetics, 2007
Human pigmentation variation: evolution, genetic basis, and implications for public health.
Parra EJ
American Journal of Physical Anthropology, 2007