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10.1152/ajprenal.00426.2016 http://scihub22266oqcxt.onion/10.1152/ajprenal.00426.2016 C5130461!5130461!27582106     free     free     free Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Physiol+Renal+Physiol 2016 ; 311 (5): F908-14 Nephropedia Template TP {{tp|p=27582106|t=2016. Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity |pdf=|usr=}}{{27582106}} gab.com Text Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity JO: Am J Physiol Renal Physiol http://www.kidney.de/pget.php?&tw=1&pmid=27582106 #FOAvip Mutations in genes encoding subunits of the epithelial Na+ channel (ENaC) can cause early onset familial hypertension, demonstrating the importance of this channel in modulating blood pressure. It remains unclear whether other genetic variants resulting in subtler alterations of channel function result in hypertension or altered sensitivity of blood pressure to dietary salt. This study sought to identify functional human ENaC variants to examine how these variants alter channel activity and to explore whether these variants are associated with altered sensitivity of blood pressure to dietary salt. Six-hundred participants of the Genetic Epidemiology Network of Salt Sensitivity (GenSalt) study with salt-sensitive or salt-resistant blood pressure underwent sequencing of the genes encoding ENaC subunits. Functional effects of identified variants were examined in a Xenopus oocyte expression system. Variants that increased channel activity included three in the gene encoding the ?-subunit (?S115N, ?R476W, and ?V481M), one in the ?-subunit (?S635N), and one in the ?-subunit (?L438Q). One ?-subunit variant (?A334T) and one ?-subunit variant (?D31N) decreased channel activity. Several ?-subunit extracellular domain variants altered channel inhibition by extracellular Na+ (Na+ self-inhibition). One variant (?A334T) decreased and one (?V481M) increased cell surface expression. Association between these variants and salt sensitivity did not reach statistical significance. This study identifies novel functional human ENaC variants and demonstrates that some variants alter channel cell surface expression and/or Na+ self-inhibition. Twit Text FOAVip Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity ????Am J Physiol Renal Physiol http://www.kidney.de/pget.php?&tw=1&pmid=27582106 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27582106 #FOAvip English Wikipedia <ref>{{Cite pmid|27582106}}</ref> Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity #MMPMID27582106 Ray EC; Chen J; Kelly TN; He J; Hamm LL; Gu D; Shimmin LC; Hixson JE; Rao DC; Sheng S; Kleyman TR Am J Physiol Renal Physiol 2016[Nov]; 311 (5): F908-14 PMID27582106show ga Mutations in genes encoding subunits of the epithelial Na+ channel (ENaC) can cause early onset familial hypertension, demonstrating the importance of this channel in modulating blood pressure. It remains unclear whether other genetic variants resulting in subtler alterations of channel function result in hypertension or altered sensitivity of blood pressure to dietary salt. This study sought to identify functional human ENaC variants to examine how these variants alter channel activity and to explore whether these variants are associated with altered sensitivity of blood pressure to dietary salt. Six-hundred participants of the Genetic Epidemiology Network of Salt Sensitivity (GenSalt) study with salt-sensitive or salt-resistant blood pressure underwent sequencing of the genes encoding ENaC subunits. Functional effects of identified variants were examined in a Xenopus oocyte expression system. Variants that increased channel activity included three in the gene encoding the ?-subunit (?S115N, ?R476W, and ?V481M), one in the ?-subunit (?S635N), and one in the ?-subunit (?L438Q). One ?-subunit variant (?A334T) and one ?-subunit variant (?D31N) decreased channel activity. Several ?-subunit extracellular domain variants altered channel inhibition by extracellular Na+ (Na+ self-inhibition). One variant (?A334T) decreased and one (?V481M) increased cell surface expression. Association between these variants and salt sensitivity did not reach statistical significance. This study identifies novel functional human ENaC variants and demonstrates that some variants alter channel cell surface expression and/or Na+ self-inhibition. äHuman epithelial Na+ channel missense variants identified in the GenSa(epmc).pdf DeepDyve Pubget Overpricing