Disease: Ocular Albinism type 1
- <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>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
- 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 insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene
- 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