Associated Papers
Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Ionova S et al.
Pigment Cell & Melanoma Research, 2026
OCA2 deficiency enhances TPC2 channel activity to reduce melanosomal pH and pigment production.
Wang Y et al.
The Journal of Investigative Dermatology, 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
Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.
Yang Q et al.
Pigment Cell & Melanoma Research, 2025
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Nagy N et al.
International Journal of Molecular Sciences, 2024
Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction.
Brancato D et al.
Genes, 2023
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population.
Ang KC et al.
Elife, 2023
Precise in vivo functional analysis of DNA variants with base editing using ACEofBASEs target prediction.
Cornean A et al.
Elife, 2022
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.
Loftus SK et al.
Human Mutation, 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
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
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Delineating the genetic heterogeneity of OCA in Hungarian patients.
Fábos B et al.
European Journal of Medical Research, 2017
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M et al.
Scientific Reports, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Mauri L et al.
Journal of Human Genetics, 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
Importance of nonsynonymous OCA2 variants in human eye color prediction.
Andersen JD et al.
Molecular Genetics & Genomic Medicine, 2016
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity.
Lee S et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2015
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
Urtatiz O et al.
Journal of Dermatological Science, 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
Mutational analysis of oculocutaneous albinism: a compact review.
Kamaraj B et al.
Biomed Research International, 2014
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
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene.
Sengupta M et al.
The British Journal of Dermatology, 2010
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
DNA polymorphisms: what they are and their role in human pigmentation.
Kosmadaki MG et al.
Actas Dermo-sifiliograficas, 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
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
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2).
Wattanasirichaigoon D et al.
Journal of Dermatological Science, 2008
SLC45A2 variations in Indian oculocutaneous albinism patients.
Sengupta M et al.
Molecular Vision, 2007
Genotype versus phenotype: human pigmentation.
Tully G
Forensic Science International. Genetics, 2007
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
A golden age of human pigmentation genetics.
Sturm RA
Trends in Genetics : Tig, 2006
Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.
Jannot AS et al.
European Journal of Human Genetics : Ejhg, 2005
Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation.
Graf J et al.
Human Mutation, 2005