Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 7, 2011, Pages 4497-4505

  Guziewicz, Karina E ^a   Slavik, Julianna ^a   Lindauer, Sarah J P ^a   Aguirre, Gustavo D ^a   Zangerl, Barbara ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; BEST1 PROTEIN, HUMAN; CHLORIDE CHANNEL; EYE PROTEIN;

ANIMAL CELL; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BESTROPHIN 1 GENE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DOG; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; RETINOPATHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; TRANSIENT TRANSFECTION; WESTERN BLOTTING; ANIMAL; BIOSYNTHESIS; CELL CULTURE; COMPARATIVE STUDY; DISEASE MODEL; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PROGNOSIS; RETINA; RETINA DISEASE;

ANIMALS; CELLS, CULTURED; CHLORIDE CHANNELS; DISEASE MODELS, ANIMAL; DOGS; EYE PROTEINS; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MICROSCOPY, CONFOCAL; MUTATION; PHENOTYPE; PROGNOSIS; RETINA; RETINAL DISEASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 80052381733     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6385     Document Type: Article

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