PMC Links for Gene (Select 6337) - PMC

Result Filters

Links from Gene

Items: 1 to 20 of 97

<< First< Prev

Page of 5

Select item 82077101.

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

Gregorio Serra, Vincenzo Antona, Maria Michela D’Alessandro, Maria Cristina Maggio, Vincenzo Verde, Giovanni Corsello

Ital J Pediatr. 2021; 47: 138. Published online 2021 Jun 16. doi: 10.1186/s13052-021-01080-x

PMCID:: PMC8207710

Abstract Article PDF–1.5M

Select item 78783492.

Epithelial Sodium Channel and Salt-Sensitive Hypertension

Stephanie M. Mutchler, Annet Kirabo, Thomas R. Kleyman

Hypertension. Author manuscript; available in PMC 2022 Mar 3.

Published in final edited form as: Hypertension. 2021 Mar 3; 77(3): 759–767. Published online 2021 Jan 25. doi: 10.1161/HYPERTENSIONAHA.120.14481

PMCID:: PMC7878349

Abstract Article PDF–1.0M

Select item 61978573.

Structure of the human epithelial sodium channel by cryo-electron microscopy

Sigrid Noreng, Arpita Bharadwaj, Richard Posert, Craig Yoshioka, Isabelle Baconguis

eLife. 2018; 7: e39340. Published online 2018 Sep 25. doi: 10.7554/eLife.39340

PMCID:: PMC6197857

Abstract Article PDF–4.4M

Select item 56612754.

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome

Mahdi Salih, Ivan Gautschi, Miguel X. van Bemmelen, Michael Di Benedetto, Alice S. Brooks, Dorien Lugtenberg, Laurent Schild, Ewout J. Hoorn

J Am Soc Nephrol. 2017 Nov; 28(11): 3291–3299. Published online 2017 Jul 14. doi: 10.1681/ASN.2016111163

PMCID:: PMC5661275

Abstract Article

Select item 46614235.

Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome

Wang Li, Chen Long, Li Renjun, Hu Zhangxue, Hu Yin, Li Wanwei, Ma Juan, Shi Yuan

Sci Rep. 2015; 5: 17317. Published online 2015 Nov 27. doi: 10.1038/srep17317

PMCID:: PMC4661423

Abstract Article PDF–256K

Select item 46136266.

Evaluation of the relationship between T663A polymorphism in the alpha-epithelial sodium channel gene and essential hypertension

Wenchao Yang, Zhenmin Zhu, Jin Wang, Wei Ye, Yong Ding

Saudi Med J. 2015 Sep; 36(9): 1039–1045. doi: 10.15537/smj.2015.9.11822

PMCID:: PMC4613626

Abstract Article PDF–888K

Select item 45944207.

A long isoform of the epithelial sodium channel alpha subunit forms a highly active channel

Jonathan M Berman, Cristin Brand, Mouhamed S Awayda

Channels (Austin) 2015 Jan-Feb; 9(1): 30–43. Published online 2015 Feb 3. doi: 10.4161/19336950.2014.985478

PMCID:: PMC4594420

Abstract Article PDF–1.2M

Select item 36750838.

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

Jian Wang, Tingting Yu, Lei Yin, Jing Li, Li Yu, Ye Shen, Yongguo Yu, Yongnian Shen, Qihua Fu

PLoS One. 2013; 8(6): e65676. Published online 2013 Jun 6. doi: 10.1371/journal.pone.0065676

PMCID:: PMC3675083

Abstract Article PDF–816K

Select item 35015949.

Genetic Variation of SCNN1A Influences Lung Diffusing Capacity in Cystic Fibrosis

Sarah E. Baker, Eric C. Wong, Courtney M. Wheatley, William T. Foxx-Lupo, Marina G. Martinez, Mary A. Morgan, Ryan Sprissler, Wayne J. Morgan, Eric M. Snyder

Med Sci Sports Exerc. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Med Sci Sports Exerc. 2012 Dec; 44(12): 2315–2321. doi: 10.1249/MSS.0b013e318266ebc3

PMCID:: PMC3501594

Abstract Article PDF–441K

Select item 340458610.

Multiple residues in the distal C terminus of the α-subunit have roles in modulating human epithelial sodium channel activity

Gunhild M. Mueller, Wusheng Yan, Lawrence Copelovitch, Susan Jarman, Zhijian Wang, Carol L. Kinlough, Michael A. Tolino, Rebecca P. Hughey, Thomas R. Kleyman, Ronald C. Rubenstein

Am J Physiol Renal Physiol. 2012 Jul 15; 303(2): F220–F228. Published online 2012 May 9. doi: 10.1152/ajprenal.00493.2011

PMCID:: PMC3404586

Abstract Article

Select item 321591611.

Genetic Variation of the Alpha Subunit of the Epithelial Na⁺ Channels Influences Exhaled Na⁺ in Healthy Humans

William T. Foxx-Lupo, Courtney M. Wheatley, Sarah E. Baker, Nicholas A. Cassuto, Nicholas A. Delamere, Eric M. Snyder

Respir Physiol Neurobiol. Author manuscript; available in PMC 2012 Dec 15.

Published in final edited form as: Respir Physiol Neurobiol. 2011 Dec 15; 179(2-3): 205–211. Published online 2011 Aug 26. doi: 10.1016/j.resp.2011.08.008

PMCID:: PMC3215916

Abstract Article PDF–466K

Select item 321590712.

Genetic Variation of αENaC Influences Lung Diffusion During Exercise in Humans

Sarah E. Baker, Courtney M. Wheatley, Nicholas A. Cassuto, William T. Foxx-Lupo, Ryan Sprissler, Eric M. Snyder

Respir Physiol Neurobiol. Author manuscript; available in PMC 2012 Dec 15.

Published in final edited form as: Respir Physiol Neurobiol. 2011 Dec 15; 179(2-3): 212–218. Published online 2011 Aug 26. doi: 10.1016/j.resp.2011.08.007

PMCID:: PMC3215907

Abstract Article PDF–452K

Select item 299309113.

Acute Regulation of the Epithelial Sodium Channel in Airway Epithelia by Proteases and Trafficking

Michael M. Myerburg, Peter R. Harvey, Elisa M. Heidrich, Joseph M. Pilewski, Michael B. Butterworth

Am J Respir Cell Mol Biol. 2010 Dec; 43(6): 712–719. doi: 10.1165/rcmb.2009-0348OC

PMCID:: PMC2993091

Abstract Article PDF–1.1M

Select item 287272814.

A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na⁺ self inhibition

Robert Rauh, Alexei Diakov, Anja Tzschoppe, Judit Korbmacher, Abul Kalam Azad, Harry Cuppens, Jean-Jaques Cassiman, Jörg Dötsch, Heinrich Sticht, Christoph Korbmacher

J Physiol. 2010 Apr 15; 588(Pt 8): 1211–1225. Published online 2010 Mar 1. doi: 10.1113/jphysiol.2009.180224