Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 6, 2009, Pages 2599-2606

  Footz, Tim ^a   Idrees, Faisal ^b   Acharya, Moulinath ^a   Kozlowsk, Kathy ^a   Walter, Michael A ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

^b KINGSTON HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

RECOMBINANT PITX2 PROTEIN; RECOMBINANT PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR PITX2;

ANIMAL CELL; ARTICLE; AXENFELD RIEGER SYNDROME; CARBOXY TERMINAL SEQUENCE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DNA BINDING; DNA PROTEIN COMPLEX; ENZYME METABOLISM; EYE DISEASE; GEL MOBILITY SHIFT ASSAY; HOMEOBOX; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN STABILITY; REPORTER GENE; TRANSACTIVATION; TRANSCRIPTION INITIATION; ANIMAL; ANTERIOR EYE SEGMENT; CELL STRAIN COS1; CERCOPITHECUS; CONGENITAL MALFORMATION; EYE MALFORMATION; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC TRANSFECTION; GENETICS; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PHYSIOLOGY; SYNDROME; TRABECULAR MESHWORK; WESTERN BLOTTING;

ABNORMALITIES, MULTIPLE; ANIMALS; ANTERIOR EYE SEGMENT; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; COS CELLS; ELECTROPHORETIC MOBILITY SHIFT ASSAY; EYE ABNORMALITIES; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GENES, REPORTER; HOMEODOMAIN PROTEINS; HUMANS; MUTATION, MISSENSE; SYNDROME; TRABECULAR MESHWORK; TRANSCRIPTION FACTORS; TRANSCRIPTIONAL ACTIVATION; TRANSFECTION;

EID: 66849143192     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.08-3251     Document Type: Article

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