• <em>GPR143</em> genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism
• <em>GPR143</em> mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China
• A constitutively active Gαi3 protein corrects the abnormal retinal pigment epithelium phenotype of Oa1-/- mice
• A new gene mutation in a family with idiopathic infantile nystagmus
• A novel GPR143 mutation in a Chinese family with X-linked ocular albinism type 1
• A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1
• A novel mutation, c.494C&gt;A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient
• A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree
• A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1
• Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides
• Advances in research of synergistic divergence
• Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4)
• An unconventional dileucine-based motif and a novel cytosolic motif are required for the lysosomal and melanosomal targeting of OA1
• Analysis of P gene variations among fourteen patients with oculocutaneous albinism type II
• Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations
• Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases
• Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers
• Changes in refractive errors in albinism: a longitudinal study over the first decade of life
• Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
• 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
• Coupling between GPR143 and dopamine D2 receptor is required for selective potentiation of dopamine D2 receptor function by L-3,4-dihydroxyphenylalanine in the dorsal striatum
• CRISPR-AsCas12a Efficiently Corrects a <em>GPR143</em> Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient
• Decreased CREB phosphorylation impairs embryonic retinal neurogenesis in the <em>Oa1-/-</em> mouse model of Ocular albinism
• Dopamine signaling regulates the projection patterns in the mouse chiasm
• Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes
• Eight previously unidentified mutations found in the OA1 ocular albinism gene
• Evaluation of the iris thickness changes for the Chinese families with GPR143 gene mutations
• Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
• Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO) of Macular Pigment
• Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143
• Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs)
• Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism
• GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism
• GPR143 gene mutation analysis in pediatric patients with albinism
• GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus
• GPR143 mutational analysis in two Italian families with X-linked ocular albinism
• GPR143 mutations in Chinese patients with ocular albinism type 1
• Hermansky-Pudlak Syndrome: Identification of <em>Novel</em> Variants in the Genes <em>HPS3</em>, <em>HPS5,</em> and <em>DTNBP1</em> (HPS-7)
• Heterochromia
• Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1
• Identification of a novel <em>GPR143</em> mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability
• Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism
• Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia
• Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism
• Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay
• In vitro disease modeling of oculocutaneous albinism type 1 and 2 using human induced pluripotent stem cell-derived retinal pigment epithelium
• INADVERTENT GLOBE PENETRATION AND SUBRETINAL INJECTION OF BOTULINUM TOXIN IN A PATIENT WITH OCULOCUTANEOUS ALBINISM
• Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1
• Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation
• L-DOPA-Induced Neurogenesis in the Hippocampus Is Mediated Through GPR143, a Distinct Mechanism of Dopamine
• Long-term vision outcomes for patients with albinism and diabetic retinopathy
• Low-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India
• Macular Findings in Carriers of Ocular Albinism With a Novel GPR143 Mutation
• Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis
• Melanosome-autonomous regulation of size and number: the OA1 receptor sustains PMEL expression
• Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <em>TYR</em> gene
• Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3
• Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6
• Mud-splattered fundus
• MULTIMODAL IMAGING OF MOSAIC RETINOPATHY IN CARRIERS OF HEREDITARY X-LINKED RECESSIVE DISEASES
• Mutation of GPR143 Associated With Ocular Albinism Type 1, Intellectual Disability, and Schizophrenia: The Complex Biological and Social Interactions Between Genetic Syndromes and Mental Illness
• Mutational analysis of the OA1 gene in ocular albinism
• Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence
• New mutations identified in the ocular albinism type 1 gene
• Ocular Albinism Type 1 Regulates Deltamethrin Tolerance in <em>Lymantria dispar</em> and <em>Drosophila melanogaster</em>
• Ocular Albinism Type 1 Regulates Deltamethrin Tolerance in Lymantria dispar and Drosophila melanogaster
• Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes
• Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway
• Ocular albinism with infertility and late-onset sensorineural hearing loss
• Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
• Oculocutaneous and ocular albinism
• Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells
• Phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism
• Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease
• Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism
• Recovery of stereopsis after strabismus surgery in X-linked ocular albinism
• Refractive errors, visual impairment, and the use of low-vision devices in albinism in Malawi
• Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7
• Retrospective analysis of low vision assistive products - A 6-year review
• Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes
• Silencing of GPNMB by siRNA inhibits the formation of melanosomes in melanocytes in a MITF-independent fashion
• Single-nucleotide polymorphisms responsible for pseudo-albinism and hypermelanosis in Japanese flounder (Paralichthys olivaceus) and reveal two genes related to malpigmentation
• SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies
• Specific interaction of Gαi3 with the Oa1 G-protein coupled receptor controls the size and density of melanosomes in retinal pigment epithelium
• Structural insights into human GPCR protein OA1: a computational perspective
• Suspected pathogenic mutation identified in two cases with oculocutaneous albinism
• The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor
• The melanosomal/lysosomal protein OA1 has properties of a G protein-coupled receptor
• The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis
• The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition
• The ocular albinism type 1 (OA1) gene controls melanosome maturation and size
• The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function
• The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis
• The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times
• The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells
• The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells
• The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
• Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness
• Two Variants in <em>SLC24A5</em> Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses
• TYPES OF ALBINISM IN THE BLACK SOUTHERN AFRICA POPULATION