TCF4Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy
نویسندگان
چکیده
منابع مشابه
Cornea Fuchs’ Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy
V. Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P. Mammen, Zhengyang Zhou, Chao Xing, and Xin Gong Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, Texas, United States McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, United States Department of Internal Medicine, University of Texas Southwe...
متن کاملFuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy
Purpose The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DM...
متن کاملCorrelation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.
IMPORTANCE The CTG18.1 triplet repeat expansion in TCF4 has recently been found to be a common functional variant contributing significant risk to the development of Fuchs endothelial corneal dystrophy (FECD) in Eurasian populations. OBJECTIVES To determine the effect of the expanded CTG18.1 allele of TCF4 on FECD severity and to correlate CTG triplet repeat allele length to the severity of F...
متن کاملSLC4A11 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 کاملFuchs endothelial corneal dystrophy: current perspectives.
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 ...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2015
ISSN: 1552-5783
DOI: 10.1167/iovs.14-16222