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10.1167/iovs.14-16222 http://scihub22266oqcxt.onion/10.1167/iovs.14-16222 C4373545!4373545!25722209     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Invest+Ophthalmol+Vis+Sci 2015 ; 56 (3): 2003-11 Nephropedia Template TP {{tp|p=25722209|t=2015. TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs Endothelial Corneal Dystrophy |pdf=|usr=}}{{25722209}} gab.com Text TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs Endothelial Corneal Dystrophy JO: Invest Ophthalmol Vis Sci http://www.kidney.de/pget.php?&tw=1&pmid=25722209 #FOAvip Purpose.Expansion of the intronic CTG18.1 triplet repeat locus within TCF4 contributes significant risk to the development of Fuchs' endothelial corneal dystrophy (FECD) in Eurasian populations, but the mechanisms by which the expanded repeats result in degeneration of the endothelium have been hitherto unknown. The purpose of this study was to examine FECD endothelial samples for the presence of RNA nuclear foci, the hallmark of toxic RNA, as well as evidence of haploinsufficiency of TCF4. Methods.Using fluorescence in situ hybridization, we examined for the presence of nuclear RNA foci containing expanded CUG transcripts in corneal endothelial samples from FECD subjects with CTG18.1 expansion. We also examined for any changes in expression levels of TCF4 by quantitative real-time PCR. Results.Numerous discrete nuclear RNA foci were identified in endothelial samples of FECD subjects (n = 8) harboring the CTG18.1 expansion, but not in controls lacking the expansion (n = 5) (P = 7.8 × 10?4). Percentage of cells with foci in expansion-positive endothelial samples ranged from 33% to 88%. RNA foci were absent in endothelial samples from an FECD subject without CTG18.1 expansion and a subject with endothelial dysfunction without FECD. Expression of the constitutive TCF4 exon encoding the basic helix-loop-helix domain was unaltered with CTG18.1 expansion. Conclusions.Our findings suggest that the RNA nuclear foci are pathognomonic for CTG18.1 expansion-mediated endothelial disease. The RNA nuclear foci have been previously found only in rare neurodegenerative disorders caused by repeat expansions. Our detection of abundant ribonuclear foci in FECD implicates a role for toxic RNA in this common disease. Twit Text FOAVip TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs Endothelial Corneal Dystrophy ????Invest Ophthalmol Vis Sci http://www.kidney.de/pget.php?&tw=1&pmid=25722209 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25722209 #FOAvip English Wikipedia <ref>{{Cite pmid|25722209}}</ref> TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs Endothelial Corneal Dystrophy #MMPMID25722209 Mootha VV; Hussain I; Cunnusamy K; Graham E; Gong X; Neelam S; Xing C; Kittler R; Petroll WM Invest Ophthalmol Vis Sci 2015[Mar]; 56 (3): 2003-11 PMID25722209show ga Purpose.Expansion of the intronic CTG18.1 triplet repeat locus within TCF4 contributes significant risk to the development of Fuchs' endothelial corneal dystrophy (FECD) in Eurasian populations, but the mechanisms by which the expanded repeats result in degeneration of the endothelium have been hitherto unknown. The purpose of this study was to examine FECD endothelial samples for the presence of RNA nuclear foci, the hallmark of toxic RNA, as well as evidence of haploinsufficiency of TCF4. Methods.Using fluorescence in situ hybridization, we examined for the presence of nuclear RNA foci containing expanded CUG transcripts in corneal endothelial samples from FECD subjects with CTG18.1 expansion. We also examined for any changes in expression levels of TCF4 by quantitative real-time PCR. Results.Numerous discrete nuclear RNA foci were identified in endothelial samples of FECD subjects (n = 8) harboring the CTG18.1 expansion, but not in controls lacking the expansion (n = 5) (P = 7.8 × 10?4). Percentage of cells with foci in expansion-positive endothelial samples ranged from 33% to 88%. RNA foci were absent in endothelial samples from an FECD subject without CTG18.1 expansion and a subject with endothelial dysfunction without FECD. Expression of the constitutive TCF4 exon encoding the basic helix-loop-helix domain was unaltered with CTG18.1 expansion. Conclusions.Our findings suggest that the RNA nuclear foci are pathognomonic for CTG18.1 expansion-mediated endothelial disease. The RNA nuclear foci have been previously found only in rare neurodegenerative disorders caused by repeat expansions. Our detection of abundant ribonuclear foci in FECD implicates a role for toxic RNA in this common disease. äTCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs Endotheli(epmc).pdf DeepDyve Pubget Overpricing