Associated Papers
Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.
Chen S et al.
Investigative Ophthalmology & Visual Science, 2025
41025874 (PubMed )
Supplement: iovs-66-12-69_s005.xlsx › Sheet1
GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.
Aneja A et al.
Genes, 2025
40869959 (PubMed )
Supplement: genes-16-00911-s001.zip › genes-3754796-supplementary.xlsx › Sheet2
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.
Zhong J et al.
Ophthalmic Genetics, 2021
Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells.
Masukawa D et al.
Journal of Pharmacological Sciences, 2019
The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis.
Schiaffino MV et al.
Pigment Cell Research, 2005
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.
Hegde M et al.
Genetic Testing, 2002
Ocular albinism type 1: more than meets the eye.
Shen B et al.
Pigment Cell Research, 2001
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
Bassi MT et al.
Human Genetics, 2001
Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1.
d'Addio M et al.
Human Molecular Genetics, 2000
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