• A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associated with white coat colour in a red deer (Cervus elaphus) population
• After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report
• Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase
• Clinical and molecular genetic analysis of Angelman syndrome with oculocutaneous albinism type 2: A case report and literature review
• Does Early Glasses Wear Improve Visual Outcome in OCA1A?
• Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation
• Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)
• Functional <em>in silico</em> analysis of human tyrosinase and OCA1 associated mutations
• Generation and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease
• Genotypic spectrum of albinism in Mali
• Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
• Hermansky-Pudlak syndrome presenting with paranoid delusion
• Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism
• Hermansky-Pudlak syndrome: Gene therapy for pulmonary fibrosis
• Hermansky-Pudlak Syndrome: Spectrum in Oman
• Heterochromia
• Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1
• Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1
• Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families
• In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants
• In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium
• Low-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India
• Membrane-associated human tyrosinase is an enzymatically active monomeric glycoprotein
• Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <em>TYR</em> gene
• Modeling human point mutation diseases in <em>Xenopus tropicalis</em> with a modified CRISPR/Cas9 system
• Molecular genetic characterization of Congolese patients with oculocutaneous albinism
• 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
• 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
• Reduction of lens size in PAX6-related aniridia
• The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A
• The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
• The structure and function of the mouse tyrosinase locus
• Visual acuity improvement in children with albinism beyond the first decade of life