SLC4A11 Three-Dimensional Model Explains Structural Basis for Endothelial Corneal Dystrophy-Causing Mutations
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چکیده
These abstracts are licensed under a Creative Commons Attribution-NonCommercial-No Derivatives 4.0 International License. Go to http://iovs.arvojournals.org/ to access the versions of record. 438 Corneal Genetics and Myopia Wednesday, May 04, 2016 11:00 AM–12:45 PM Exhibit/Poster Hall Poster Session Program #/Board # Range: 4820–4840/A0036–A0056 Organizing Section: Genetics Group Contributing Section(s): Anatomy/Pathology, Clinical/ Epidemiologic Research
منابع مشابه
SLC4A11 mutations in Fuchs endothelial corneal dystrophy.
The endothelial (posterior) corneal dystrophies, which result from primary endothelial dysfunction, include Fuchs endothelial corneal dystrophy (FECD), posterior polymorphous corneal dystrophy (PPCD) and congenital hereditary endothelial dystrophy (CHED). Mutations in SLC4A11 gene have been recently identified in patients with recessive CHED (CHED2). In this study, we show that heterozygous mut...
متن کاملThe Genetic Basis of Fuchs Endothelial Corneal Dystrophy
Fuchs endothelial corneal dystrophy (FECD) is characterized by pleomorphic, attenuated, dysfunctional, and degenerated corneal endothel ium together with progressive formation of corneal guttae. The condition may show familial clustering but is usually sporadic and predominantly affects women. Family based studies have mapped late onset FECD susceptibility to 13ptel-13q12.13 and 18q21.2-q21.32....
متن کاملCongenital Hereditary Endothelial Dystrophy Caused by SLC4A11 Mutations Progresses to Harboyan Syndrome
PURPOSE Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting of corneal dystrophy and sensorineural hearing loss. In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. In this report, we investigate whether...
متن کاملSLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy
Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth. Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its mutations in the pathophysiology and clinical presentation of CHED. Individuals with CHED have mutati...
متن کاملConditionally Immortal Slc4a11−/− Mouse Corneal Endothelial Cell Line Recapitulates Disrupted Glutaminolysis Seen in Slc4a11−/− Mouse Model
Purpose To establish conditionally immortal mouse corneal endothelial cell lines with genetically matched Slc4a11+/+ and Slc4a11-/- mice as a model for investigating pathology and therapies for SLC4A11 associated congenital hereditary endothelial dystrophy (CHED) and Fuchs' endothelial corneal dystrophy. Methods We intercrossed H-2Kb-tsA58 mice (Immortomouse) expressing an IFN-γ dependent and...
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تاریخ انتشار 2016