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Stem Cell Research, ISSN 1873-5061, 12/2018, Volume 33, pp. 274 - 277
Ocular albinism type 1 is a genetic eye disease caused by mutations in the gene. Little is known about the molecular pathways involved in this disease and no... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Genetic aspects | Research | G proteins | Albinism | Gene mutations | Stem cells | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, p. e76240
Ocular Albinism type 1 (OA1) is a disease caused by mutations in the OA1 gene and characterized by the presence of macromelanosomes in the retinal pigment... 
Analysis | Genetic aspects | Epithelium
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2011, Volume 6, Issue 9, p. e24376
Ocular albinism type 1, an X-linked disease characterized by the presence of enlarged melanosomes in the retinal pigment epithelium (RPE) and abnormal crossing... 
Genetic aspects | Skin | G proteins | Epithelium | Membrane proteins
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e50417 - e50417
Cell-derived microvesicles (MVs), recognized as important components of cell-cell communication, contain mRNAs, miRNAs, proteins and lipids and transfer their... 
HORIZONTAL TRANSFER | PROGENITOR | NEURITE OUTGROWTH | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | GANGLION-CELLS | NEURAL REGENERATION | MICRORNAS | MODEL | DIFFERENTIATION | GLIA | Embryonic Stem Cells - metabolism | Retina - metabolism | Cell Proliferation | Embryonic Stem Cells - cytology | Oligonucleotide Array Sequence Analysis | Humans | MicroRNAs - metabolism | Cytoplasmic Vesicles - chemistry | RNA, Messenger - metabolism | SOXB1 Transcription Factors - metabolism | Octamer Transcription Factor-3 - genetics | Retina - cytology | SOXB1 Transcription Factors - genetics | Cell Shape | Cytoplasmic Vesicles - metabolism | Cell Differentiation | Eye Proteins - genetics | Biomarkers - metabolism | Cell Line | Pluripotent Stem Cells - cytology | Signal Transduction | RNA, Messenger - genetics | Gene Expression Regulation | Pluripotent Stem Cells - metabolism | Animals | Eye Proteins - metabolism | Octamer Transcription Factor-3 - metabolism | Mice | MicroRNAs - genetics | Photoreceptor Cells, Vertebrate - metabolism | Regulators | Intercellular signalling | Immunocytochemistry | Genes | Gene regulation | Oct-4 protein | Differentiation (biology) | Embryo cells | Stem cell transplantation | Retina | Lipids | Cell interactions | Proteins | Allografts | Cell cycle | Extracellular matrix | Markers | MiRNA | Zebrafish | Gene expression | DNA microarrays | Ribonucleic acids | MicroRNAs | Morphology | Stem cells | Photoreceptors | Light microscopy | Molecular biology | Pluripotency | Index Medicus
Journal Article
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 08/1999, Volume 40, Issue 9, pp. 1906 - 1911
Journal Article
Experimental Eye Research, ISSN 0014-4835, 2010, Volume 90, Issue 5, pp. 641 - 641
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2016, Volume 11, Issue 9, pp. e0162273 - e0162273
Ocular albinism type 1 (OA), caused by mutations in the OA1 gene, encodes a G-protein coupled receptor, OA1, localized in melanosomal membranes of the retinal... 
RNA-BINDING PROTEINS | CELLS | ELEMENTS | HETEROTRIMERIC G-PROTEIN | OA1 GENE | MULTIDISCIPLINARY SCIENCES | SEQUENCE | REGIONS | MISSENSE MUTATION | TYPE-1 | REVEALS | Albinism, Ocular - genetics | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Introns - genetics | Genetic Association Studies | Humans | 3' Untranslated Regions - genetics | Albinism, Ocular - diagnosis | Models, Molecular | Exons - genetics | 5' Untranslated Regions - genetics | Genetic Loci | Mutation - genetics | Sequence Analysis, DNA | GTP-Binding Protein alpha Subunits, Gi-Go - chemistry | Homozygote | Base Pairing - genetics | Base Sequence | Polymorphism, Single Nucleotide - genetics | Heterozygote | Genetic aspects | Nucleotide sequencing | Albinism | Genes | DNA sequencing | Brain | Membranes | G protein-coupled receptors | Control methods | Laboratories | Melanosomes | Computational neuroscience | Optic chiasm | Exons | Frameshift mutation | Retina | Ocular albinism | Genomes | Retinal pigment epithelium | Gene sequencing | Proteins | Coding | Evolution | Deoxyribonucleic acid--DNA | Filtration | Introns | Epithelium | Patients | Medicine | Axons | Computer applications | Sampling methods | Mutation | Genetic testing | Molecular biology | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 06/2009, Volume 50, Issue 6, p. 2591
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 04/2006, Volume 47, Issue 4, pp. 1293 - 1301
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, pp. e76240 - e76240
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 07/2008, Volume 49, Issue 7, p. 3245
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2012, Volume 7, Issue 5, pp. e35317 - e35317
Zbed4, a member of the BED subclass of Zinc-finger proteins, is expressed in cone photoreceptors and glial Muller cells of human retina whereas it is only... 
DOMAIN | MULTIDISCIPLINARY SCIENCES | ZINC-FINGER | RESPONSE ELEMENTS | ESCHERICHIA-COLI | GC-BOX | RECEPTOR | SECONDARY STRUCTURE | IDENTIFICATION | BETA-SUBUNIT GENE | HUMAN RETINA | Retina - metabolism | Humans | Molecular Sequence Data | Substrate Specificity | Cytoplasm - metabolism | Trans-Activators - chemistry | Promoter Regions, Genetic - genetics | DNA-Binding Proteins - metabolism | Base Sequence | HEK293 Cells | Trans-Activators - genetics | Transcription, Genetic | Binding Sites | Recombinant Proteins - metabolism | Amino Acid Sequence | Protein Structure, Secondary | Gene Expression Regulation | Protein Refolding | Models, Molecular | Recombinant Proteins - chemistry | Nuclear Proteins - metabolism | Recombinant Proteins - genetics | DNA - metabolism | DNA-Binding Proteins - genetics | DNA-Binding Proteins - chemistry | Protein Transport | DNA - genetics | Animals | Escherichia coli - genetics | Cell Line, Tumor | Trans-Activators - metabolism | Mice | Proteins | RNA | Genes | Escherichia coli | DNA | Myosin | Amino acids | Genetic aspects | Genetic transcription | Immunoprecipitation | Target recognition | Transcription | Estrogens | Oligonucleotides | Estrogen | Retina | Helices | Nucleotides | Boxes | E coli | Fingers & toes | Dichroism | Zinc finger proteins | Localization | Deoxyribonucleic acid--DNA | Recombinant | Binding | Spectroscopy | Nucleotide sequence | Retinoblastoma cells | Mass spectroscopy | RNA polymerase | Gene expression | Secondary structure | Ribonucleic acid--RNA | Zinc | Promoters | Circular dichroism | Medicine | Electrophoretic mobility | Photoreceptors | Ligands | Retinoblastoma | Mass spectrometry | Protein structure | Structure-function relationships | Index Medicus | Deoxyribonucleic acid | Ribonucleic acid
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2011, Volume 6, Issue 9, pp. e24376 - e24376
Background: Ocular albinism type 1, an X-linked disease characterized by the presence of enlarged melanosomes in the retinal pigment epithelium (RPE) and... 
HETEROTRIMERIC G-PROTEIN | ACTIVATION | FUSION | BIOGENESIS | CYTOPLASMIC DOMAINS | BIOLOGY | LINKED OCULAR ALBINISM | SIGNAL-TRANSDUCTION SYSTEM | TRIMERIC G-PROTEINS | EXPRESSION | GENE-PRODUCT | Retinal Pigment Epithelium - metabolism | Melanosomes - ultrastructure | Membrane Glycoproteins - metabolism | Receptors, G-Protein-Coupled - metabolism | Humans | Membrane Glycoproteins - chemistry | Adenosine Diphosphate Ribose - metabolism | Eye Proteins - chemistry | Molecular Sequence Data | Organelle Size | GTP-Binding Protein alpha Subunits, Gi-Go - chemistry | Retinal Pigment Epithelium - ultrastructure | Mass Spectrometry | Retinal Pigment Epithelium - physiology | Chromatography, Liquid | Electroretinography | Amino Acid Sequence | GTP-Binding Protein alpha Subunits, Gi-Go - deficiency | Mice, Inbred C57BL | Blotting, Western | Mice, Knockout | Animals | Receptors, G-Protein-Coupled - deficiency | Eye Proteins - metabolism | Models, Biological | Protein Binding | Mice | GTP-Binding Protein alpha Subunits, Gi-Go - metabolism | Melanosomes - metabolism | Organelle Shape | Membrane Glycoproteins - deficiency | Receptors, G-Protein-Coupled - chemistry | Neurosciences | Animal models | Membranes | Immunoprecipitation | G protein-coupled receptors | Melanosomes | Optic chiasm | Downstream effects | Melanocytes | Homology | Retina | Biosynthesis | Ocular albinism | Retinal pigment epithelium | Western blotting | Proteins | Signal transduction | Rodents | Evolution | Heparan sulfate | Albinism | Epithelium | Studies | Axons | Signaling | Ligands | Skin | Mutation | Molecular biology | Index Medicus
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 05/2007, Volume 91, Issue 5, p. 699
Journal Article
Ophthalmology, ISSN 0161-6420, 2005, Volume 112, Issue 1, pp. 159 - 166
To identify genes responsible for cone dystrophies and determine the functional consequences of their underlying mutations. Case–control study. Two hundred... 
RETINAL DEGENERATION | OVEREXPRESSION | RD MOUSE | MESSENGER-RNA | DISEASE | RECESSIVE RETINITIS-PIGMENTOSA | OPHTHALMOLOGY | MUTATIONS | IDENTIFICATION | BETA-SUBUNIT | ROD PHOSPHODIESTERASE | Protein Biosynthesis