Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 8, 2009, Pages 3573-3579

  Ito, Yoko A ^a   Footz, Tim K ^a   Berry, Fred B ^a   Mirzayans, Farideh ^a   Yu, May ^a   Khan, Arif O ^b   Walter, Michael A ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR PAX6; CYP1B1 PROTEIN, HUMAN; CYTOCHROME P450; EYE PROTEIN; FORKHEAD TRANSCRIPTION FACTOR; FOXC1 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

AGGRESOME; ANIMAL CELL; ANIRIDIA; ARTICLE; CASE REPORT; CONGENITAL GLAUCOMA; CONTROLLED STUDY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MALE; NEWBORN; NONHUMAN; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DNA BINDING; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; TRANSACTIVATION; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; CONGENITAL MALFORMATION; CORNEA; CORNEA OPACITY; CULTURE TECHNIQUE; FLUORESCENT ANTIBODY TECHNIQUE; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GENETICS; GLAUCOMA; HELA CELL; IMMUNOBLOTTING; MISSENSE MUTATION; PHENOTYPE; PLASMID; POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS;

ANIMALS; ANIRIDIA; CELL CULTURE TECHNIQUES; CERCOPITHECUS AETHIOPS; CORNEA; CORNEAL OPACITY; COS CELLS; CYTOCHROME P-450 ENZYME SYSTEM; ELECTROPHORETIC MOBILITY SHIFT ASSAY; EYE PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; FORKHEAD TRANSCRIPTION FACTORS; GENE EXPRESSION; GLAUCOMA; HELA CELLS; HOMEODOMAIN PROTEINS; HUMANS; IMMUNOBLOTTING; INFANT, NEWBORN; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; PLASMIDS; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS;

EID: 68349093935     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-3032     Document Type: Article

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