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PMID:19279310
Citation |
Ito, YA, Footz, TK, Berry, FB, Mirzayans, F, Yu, M, Khan, AO and Walter, MA (2009) Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest. Ophthalmol. Vis. Sci. 50:3573-9 |
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Abstract |
FOXC1 mutations result in Axenfeld-Rieger syndrome, a disorder characterized by a broad spectrum of malformations of the anterior segment of the eye and an elevated risk for glaucoma. A novel FOXC1 W152G mutation was identified in a patient with aniridia. Molecular analysis was conducted to determine the functional consequences of the FOXC1 W152G mutation. |
Links |
PubMed Online version:10.1167/iovs.08-3032 |
Keywords |
Animals; Aniridia/genetics; Aryl Hydrocarbon Hydroxylases; COS Cells; Cell Culture Techniques; Cercopithecus aethiops; Cornea/abnormalities; Corneal Opacity/genetics; Cytochrome P-450 CYP1B1; Cytochrome P-450 Enzyme System/genetics; Electrophoretic Mobility Shift Assay; Eye Proteins/genetics; Fluorescent Antibody Technique, Indirect; Forkhead Transcription Factors/genetics; Gene Expression; Glaucoma/congenital; HeLa Cells; Homeodomain Proteins/genetics; Humans; Immunoblotting; Infant, Newborn; Male; Mutagenesis, Site-Directed; Mutation, Missense; PAX6 Transcription Factor; Paired Box Transcription Factors/genetics; Phenotype; Plasmids; Polymerase Chain Reaction; Repressor Proteins/genetics |
Significance
Annotations
Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
---|---|---|---|---|---|---|---|---|
located_in |
GO:0005634: nucleus |
ECO:0000314: direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0000976: transcription regulatory region sequence-specific DNA binding |
ECO:0000314: direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634: nucleus |
ECO:0000314: direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0044212: transcription regulatory region DNA binding |
ECO:0000314: direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0003700: DNA-binding transcription factor activity |
ECO:0000315: mutant phenotype evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0045944: positive regulation of transcription by RNA polymerase II |
ECO:0000315: mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
Notes
See also
References
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