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
GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.
Aneja A et al.
Genes, 2025
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
Wang XF et al.
Frontiers in Cell and Developmental Biology, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
GPR143 mutations in Chinese patients with ocular albinism type 1.
Jia X et al.
Molecular Medicine Reports, 2017
A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus.
Kim US et al.
International Journal of Ophthalmology, 2016
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
Hu J et al.
Molecular Vision, 2011
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.
Peng Y et al.
Molecular Vision, 2009
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.
Fang S et al.
Molecular Vision, 2008
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
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
Oetting WS
Human Mutation, 2002
Ocular albinism type 1: more than meets the eye.
Shen B et al.
Pigment Cell Research, 2001
Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis.
Shen B et al.
Traffic (copenhagen, Denmark), 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
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
OA1 mutations and deletions in X-linked ocular albinism.
Schnur RE et al.
American Journal of Human Genetics, 1998