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Fall 2015
Congenital Hereditary Endothelial Dystrophy, Harboyan Syndrome and Fuchs’ Endothelial Corneal Dystrophy are three forms of heterogeneous, genetic corneal blindness. Mutations in the membrane protein SLC4A11 have been found to cause cases of these diseases. Most mutations in SLC4A11 cause the...
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Identification of Protein-Protein Interactors of the Corneal Dystrophy-Causing Protein, SLC4A11
DownloadSpring 2022
Endothelial corneal dystrophies are eye diseases characterized by dysfunction of the innermost layer of the cornea, resulting in disruption of the regulation and homeostasis of corneal deturgescence and, ultimately, impaired visual acuity. Gene mutations are responsible for many corneal...
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SLC4A11 in Blinding Endothelial Corneal Dystrophies: Characterization, Molecular Defect and Potential Therapeutic Strategy
DownloadFall 2019
Endothelial Corneal Dystrophies (ECD), genetic blinding diseases with a heterogeneous pathophysiology, are the leading cause of endothelial keratopathy (corneal transplants). Patients manifest symptoms, including corneal edema with increased corneal thickness and loss of corneal endothelial cells...