• A cross-sectional examination of visual acuity by specific type of albinism
• A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus
• A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis
• A global view of the OCA2-HERC2 region and pigmentation
• A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice
• A potential benefit of albinism in Astyanax cavefish: downregulation of the oca2 gene increases tyrosine and catecholamine levels as an alternative to melanin synthesis
• Abnormal foveal morphology in carriers of oculocutaneous albinism
• Albinism
• Albinism and disease causing pathogens in Tanzania: are alleles that are associated with OCA2 being maintained by balancing selection?
• An intracellular anion channel critical for pigmentation
• Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II
• Association between Variants in the <em>OCA2-HERC2</em> Region and Blue Eye Colour in <em>HERC2</em> rs12913832 AA and AG Individuals
• Association study confirms the role of two OCA2 polymorphisms in normal skin pigmentation variation in East Asian populations
• Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population
• Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases
• Behavioural changes controlled by catecholaminergic systems explain recurrent loss of pigmentation in cavefish
• Black Piedra in an Amerindian Girl with Oculocutaneous Albinism Type 2
• Change in visual acuity in albinism in the early school years
• Characterization of a bystander effect induced by the endocrine-disrupting chemical 6-propyl-2-thiouracil in zebrafish embryos
• Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review
• Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
• Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/betathal genotype in an individual from the Democratic Republic of Congo
• Co-occurrence of oculocutaneous albinism type 2 and mild sickle cell disease explained by HbS/βthal genotype in an individual from the Democratic Republic of Congo
• Comparative transcriptome analysis reveals growth and molecular pathway of body color regulation in turbot (Scophthalmus maximus) exposed to different light spectrum
• Computational screening of disease-associated mutations in OCA2 gene
• Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration
• Cytoplasmic Control of Sense-Antisense mRNA Pairs
• Delineating Novel and Known Pathogenic Variants in <em>TYR</em>, <em>OCA2</em> and <em>HPS-1</em> Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families
• Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families
• Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3
• Effects of body-color mutations on vitality: an attempt to establish easy-to-breed see-through medaka strains by outcrossing
• Effects of silica-rich water on systemic and peritoneal inflammation in rats exposed to chronic low-level (900-MHz) microwave radiation
• Evaluation of polyesteramide (PEA) and polyester (PLGA) microspheres as intravitreal drug delivery systems in albino rats
• Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction
• Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II
• Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
• Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations
• Genetic analyses of Vietnamese patients with oculocutaneous albinism
• Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family
• Genetic architecture of skin and eye color in an African-European admixed population
• Genetic landscape of forensic DNA phenotyping markers among Mediterranean populations
• Genetic modulation of the iris transillumination defect: a systems genetics analysis using the expanded family of BXD glaucoma strains
• Genetic variation in regulatory DNA elements: the case of OCA2 transcriptional regulation
• Genome editing using TALENs in blind Mexican Cavefish, Astyanax mexicanus
• Genome of the Malawi golden cichlid fish (Melanochromis auratus) reveals exon loss of oca2 in an amelanistic morph
• Genotype-phenotype associations and human eye color
• Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study
• Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis
• Hermansky-Pudlak Syndrome: Identification of <em>Novel</em> Variants in the Genes <em>HPS3</em>, <em>HPS5,</em> and <em>DTNBP1</em> (HPS-7)
• Hermansky-Pudlak Syndrome: Spectrum in Oman
• Heterochromia iridum in a case of partial type 2 oculocutaneous albinism: Case report
• High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients
• Homology modelling and virtual screening of P-protein in a quest for novel antimelanogenic agent and in vitro assessments
• Identification of Candidate Genes for Red-Eyed (Albinism) Domestic Guppies Using Genomic and Transcriptomic Analyses
• Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families
• Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema
• In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants
• Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans
• Interactions between ultraviolet light and MC1R and OCA2 variants are determinants of childhood nevus and freckle phenotypes
• Intravital imaging of SRF and Notch signalling identifies a key role for EZH2 in invasive melanoma cells
• Intravitreal administration of small molecule read-through agents demonstrate functional activity in a nonsense mutation mouse model
• Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets
• l-tyrosine induces melanocyte differentiation in novel pink-eyed dilution castaneus mouse mutant showing age-related pigmentation
• Long-term vision outcomes for patients with albinism and diabetic retinopathy
• Loss of Oca2 disrupts the unfolded protein response and increases resistance to endoplasmic reticulum stress in melanocytes
• Low-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India
• Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. A Single-center Experience
• Molecular analysis of Korean patients with oculocutaneous albinism
• Molecular genetic characterization of Congolese patients with oculocutaneous albinism
• Mutational analysis of a Chinese family with oculocutaneous albinism type 2
• Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism
• NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism
• Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
• Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
• Novel human pathological mutations. Gene symbol: OCA2. Disease: albinism, oculocutaneous II
• OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism
• Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
• Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues
• Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
• Oral medicine case book 51: actinic cheilitis in a patient with oculocutaneous albinism
• Positive selection with diversity in oculocutaneous albinisms type 2 gene (OCA2) among Japanese
• Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity
• Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type
• Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ
• Prenatal genetic diagnosis of oculocutaneous albinism type II through mutation detection combined with SNPs linkage analysis
• Protective effect of geraniin against carbon tetrachloride induced acute hepatotoxicity in Swiss albino mice
• Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants
• QTL Mapping for Age-Related Eye Pigmentation in the Pink-Eyed Dilution Castaneus Mutant Mouse
• Reading skills in children and adults with albinism: the role of visual impairment
• Refractive development in individuals with ocular and oculocutaneous albinism
• Refractive errors, visual impairment, and the use of low-vision devices in albinism in Malawi
• Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree
• Runs of Homozygosity Detection and Selection Signature Analysis for Local Goat Breeds in Yunnan, China
• Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism
• Structural insights into pink-eyed dilution protein (Oca2)
• The distinctive geographic patterns of common pigmentation variants at the OCA2 gene
• The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
• Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
• Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
• Visual acuity improvement in children with albinism beyond the first decade of life