Further insights into GPR179: Expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 13, 2013, Pages 8041-8050

  Orhan, Elise ^a,b,c   Prézeau, Laurent ^d   Shamieh, Said El ^a,b,c   Bujakowska, Kinga M ^a,b,c   Michiels, Christelle ^a,b,c   Zagar, Yvrick ^a,b,c   Vol, Claire ^d   Bhattacharya, Shomi S ^e,f   Sahel, José Alain ^a,b,c,e,g,h   Sennlaub, Florian ^a,b,c   Audo, Isabelle ^a,b,c,e   Zeitz, Christina ^a,b,c  

^a INSERM   (France)

^b CNRS   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d INSTITUT DE GÉNOMIQUE FONCTIONNELLE   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f CABIMER Andalusian Center for Molecular Biology and Regenerative Medicine CSIC University of Seville UPO   (Spain)

^g FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD   (France)

^h Académie des Sciences Institut de France Paris   (France)

Author keywords

cCSNB; Expression and localization; GPR179; Mini gene approach; Pathogenicity; Trafficking defect

Indexed keywords

CELL SURFACE RECEPTOR; G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 179; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; CELL CULTURE; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC TRANSFECTION; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOLOCALIZATION; IN SITU HYBRIDIZATION; MISSENSE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RETINA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION;

CCSNB; EXPRESSION AND LOCALIZATION; GPR179; MINI-GENE APPROACH; PATHOGENICITY; TRAFFICKING DEFECT;

ANIMALS; DISEASE MODELS, ANIMAL; ELECTRORETINOGRAPHY; ENZYME-LINKED IMMUNOSORBENT ASSAY; EYE DISEASES, HEREDITARY; FEMALE; GENE EXPRESSION REGULATION; GENETIC DISEASES, X-LINKED; HUMANS; IN SITU HYBRIDIZATION; MICE; MICE, INBRED C57BL; MYOPIA; NIGHT BLINDNESS; POLYMERASE CHAIN REACTION; RECEPTORS, G-PROTEIN-COUPLED; RETINAL BIPOLAR CELLS; RNA;

EID: 84890064346     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-12610     Document Type: Article

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