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10.1167/iovs.14-15247 http://scihub22266oqcxt.onion/10.1167/iovs.14-15247 C4184387!4184387!25190660     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Invest+Ophthalmol+Vis+Sci 2014 ; 55 (10): 6159-66 Nephropedia Template TP {{tp|p=25190660|t=2014. Functional Impact of ZEB1 Mutations Associated With Posterior Polymorphous and Fuchs Endothelial Corneal Dystrophies |pdf=|usr=}}{{25190660}} gab.com Text Functional Impact of ZEB1 Mutations Associated With Posterior Polymorphous and Fuchs Endothelial Corneal Dystrophies JO: Invest Ophthalmol Vis Sci http://www.kidney.de/pget.php?&tw=1&pmid=25190660 #FOAvip Purpose.To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous corneal dystrophy 3 (PPCD3) and Fuchs' endothelial corneal dystrophy (FECD). Methods.Thirteen of the 27 previously reported ZEB1 truncating mutations associated with PPCD3 and the six previously reported ZEB1 missense mutations associated with FECD were generated and transiently transfected into a corneal endothelial cell line. Protein abundance was determined by immunoblotting, while intracellular localization was determined by fluorescence confocal microscopy. Results.Three of the 13 ZEB1 truncated mutants, and none of the missense mutants, showed significant decrease in mutant ZEB1 protein levels. Predominant nuclear localization was observed for truncated ZEB1 mutant proteins with a predicted molecular weight of less than 92 kilodaltons. The two largest mutant proteins that lacked a putative nuclear localization signal (NLS), p.(Ser638Cysfs*5) and p.(Gln884Argfs*37), primarily localized to the cytoplasm, while the NLS-containing mutant proteins, p.(Glu997Alafs*7) and p.(Glu1039Glyfs*6), primarily localized to the nucleus. All the missense ZEB1 mutant proteins were exclusively present in the nucleus. Conclusions.ZEB1 truncating mutations result in a significant decrease and/or impaired nuclear localization of the encoded protein, indicating that ZEB1 haploinsufficiency in PPCD3 may result from decreased protein production and/or impaired cellular localization. Conversely, as the reported ZEB1 missense mutations do not significantly impact protein abundance or nuclear localization, the effect of these mutations on ZEB1 function and their relationship to FECD, if any, remain to be elucidated. Twit Text FOAVip Functional Impact of ZEB1 Mutations Associated With Posterior Polymorphous and Fuchs Endothelial Corneal Dystrophies ????Invest Ophthalmol Vis Sci http://www.kidney.de/pget.php?&tw=1&pmid=25190660 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25190660 #FOAvip English Wikipedia <ref>{{Cite pmid|25190660}}</ref> Functional Impact of ZEB1 Mutations Associated With Posterior Polymorphous and Fuchs Endothelial Corneal Dystrophies #MMPMID25190660 Chung DWD; Frausto RF; Ann LB; Jang MS; Aldave AJ Invest Ophthalmol Vis Sci 2014[Oct]; 55 (10): 6159-66 PMID25190660show ga Purpose.To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous corneal dystrophy 3 (PPCD3) and Fuchs' endothelial corneal dystrophy (FECD). Methods.Thirteen of the 27 previously reported ZEB1 truncating mutations associated with PPCD3 and the six previously reported ZEB1 missense mutations associated with FECD were generated and transiently transfected into a corneal endothelial cell line. Protein abundance was determined by immunoblotting, while intracellular localization was determined by fluorescence confocal microscopy. Results.Three of the 13 ZEB1 truncated mutants, and none of the missense mutants, showed significant decrease in mutant ZEB1 protein levels. Predominant nuclear localization was observed for truncated ZEB1 mutant proteins with a predicted molecular weight of less than 92 kilodaltons. The two largest mutant proteins that lacked a putative nuclear localization signal (NLS), p.(Ser638Cysfs*5) and p.(Gln884Argfs*37), primarily localized to the cytoplasm, while the NLS-containing mutant proteins, p.(Glu997Alafs*7) and p.(Glu1039Glyfs*6), primarily localized to the nucleus. All the missense ZEB1 mutant proteins were exclusively present in the nucleus. Conclusions.ZEB1 truncating mutations result in a significant decrease and/or impaired nuclear localization of the encoded protein, indicating that ZEB1 haploinsufficiency in PPCD3 may result from decreased protein production and/or impaired cellular localization. Conversely, as the reported ZEB1 missense mutations do not significantly impact protein abundance or nuclear localization, the effect of these mutations on ZEB1 function and their relationship to FECD, if any, remain to be elucidated. äFunctional Impact of ZEB1 Mutations Associated With Posterior Polymorp(epmc).pdf DeepDyve Pubget Overpricing