نتایج جستجو برای: fuchs endothelial dystrophy

تعداد نتایج: 155710  

Journal: :Molecular Vision 2009
V.V. Mootha J.M. Kanoff J. Shankardas S. Dimitrijevich

PURPOSE To identify differentially expressed genes in keratoconus (KC) corneal fibroblasts. METHODS Stromal keratocytes (having a fibroblast morphology) from KC keratoplasty specimens and eye bank donor corneas were isolated and expanded using a serum containing medium. RNA was isolated from three KC fibroblast cultures and five eye bank donor cornea fibroblast cultures. The targets from the ...

2013
Gonzalo L. Vilas Sampath K. Loganathan Jun Liu Andri K. Riau James D. Young Jodhbir S. Mehta Eranga N. Vithana Joseph R. Casey

Three genetic corneal dystrophies [congenital hereditary endothelial dystrophy type 2 (CHED2), Harboyan syndrome and Fuchs endothelial corneal dystrophy] arise from mutations of the SLC4a11 gene, which cause blindness from fluid accumulation in the corneal stroma. Selective transmembrane water conductance controls cell size, renal fluid reabsorption and cell division. All known water-channellin...

2017
V. Vinod Mootha Brock Hansen Ziye Rong Pradeep P. Mammen Zhengyang Zhou Chao Xing Xin Gong

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...

2017
V. Vinod Mootha Brock Hansen Ziye Rong Pradeep P. Mammen Zhengyang Zhou Chao Xing Xin Gong

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...

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