Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy
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چکیده
منابع مشابه
Repeat-Associated Non-ATG (RAN) Translation in Fuchs' Endothelial Corneal Dystrophy
Elisabetta Soragni, Lina Petrosyan, Tommy A. Rinkoski, Eric D. Wieben, Keith H. Baratz, Michael P. Fautsch, and Joel M. Gottesfeld Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California, United States Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, United States Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, U...
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Well-established rules of translational initiation have been used as a cornerstone in molecular biology to understand gene expression and to frame fundamental questions on what proteins a cell synthesizes, how proteins work and to predict the consequences of mutations. For a group of neurological diseases caused by the abnormal expansion of short segments of DNA (e.g. CAG•CTG repeats), mutation...
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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...
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Fuchs endothelial corneal dystrophy (FECD) is the most common corneal dystrophy and frequently results in vision loss. Hallmarks of the disease include loss of corneal endothelial cells and formation of excrescences of Descemet's membrane. Later stages involve all layers of the cornea. Impairment of endothelial barrier and pump function and cell death from oxidative and unfolded protein stress ...
متن کاملCorneal Hydration Control in Fuchs' Endothelial Corneal Dystrophy
Purpose To assess corneal hydration control across a range of severity of Fuchs' endothelial corneal dystrophy (FECD) by measuring the percent recovery per hour (PRPH) of central corneal thickness after swelling the cornea and to determine its association with corneal morphologic parameters. Methods Twenty-three corneas of 23 phakic FECD patients and 8 corneas of 8 healthy control participant...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2018
ISSN: 1552-5783
DOI: 10.1167/iovs.17-23265