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2. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. Edelheit O; Hanukoglu I; Gizewska M; Kandemir N; Tenenbaum-Rakover Y; Yurdakök M; Zajaczek S; Hanukoglu A Clin Endocrinol (Oxf); 2005 May; 62(5):547-53. PubMed ID: 15853823 [TBL] [Abstract][Full Text] [Related]
3. A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. Gründer S; Firsov D; Chang SS; Jaeger NF; Gautschi I; Schild L; Lifton RP; Rossier BC EMBO J; 1997 Mar; 16(5):899-907. PubMed ID: 9118951 [TBL] [Abstract][Full Text] [Related]
4. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Chang SS; Grunder S; Hanukoglu A; Rösler A; Mathew PM; Hanukoglu I; Schild L; Lu Y; Shimkets RA; Nelson-Williams C; Rossier BC; Lifton RP Nat Genet; 1996 Mar; 12(3):248-53. PubMed ID: 8589714 [TBL] [Abstract][Full Text] [Related]
5. Increasing concentration of inhaled saline with or without amiloride: effect on mucociliary clearance in normal subjects. Sood N; Bennett WD; Zeman K; Brown J; Foy C; Boucher RC; Knowles MR Am J Respir Crit Care Med; 2003 Jan; 167(2):158-63. PubMed ID: 12411282 [TBL] [Abstract][Full Text] [Related]
6. Role of gammaENaC subunit in lung liquid clearance and electrolyte balance in newborn mice. Insights into perinatal adaptation and pseudohypoaldosteronism. Barker PM; Nguyen MS; Gatzy JT; Grubb B; Norman H; Hummler E; Rossier B; Boucher RC; Koller B J Clin Invest; 1998 Oct; 102(8):1634-40. PubMed ID: 9788978 [TBL] [Abstract][Full Text] [Related]
7. Clinical and molecular features of type 1 pseudohypoaldosteronism. Riepe FG Horm Res; 2009; 72(1):1-9. PubMed ID: 19571553 [TBL] [Abstract][Full Text] [Related]
8. Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. Riepe FG; van Bemmelen MX; Cachat F; Plendl H; Gautschi I; Krone N; Holterhus PM; Theintz G; Schild L Clin Endocrinol (Oxf); 2009 Feb; 70(2):252-8. PubMed ID: 18547339 [TBL] [Abstract][Full Text] [Related]
9. No evidence of hearing loss in pseudohypoaldosteronism type 1 patients. Peters TA; Levtchenko E; Cremers CW; Curfs JH; Monnens LA Acta Otolaryngol; 2006 Mar; 126(3):237-9. PubMed ID: 16618647 [TBL] [Abstract][Full Text] [Related]
11. Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. Pradervand S; Barker PM; Wang Q; Ernst SA; Beermann F; Grubb BR; Burnier M; Schmidt A; Bindels RJ; Gatzy JT; Rossier BC; Hummler E Proc Natl Acad Sci U S A; 1999 Feb; 96(4):1732-7. PubMed ID: 9990093 [TBL] [Abstract][Full Text] [Related]
12. Expression of the epithelial sodium channel in airway epithelium of newborn infants depends on gestational age. Helve O; Janér C; Pitkänen O; Andersson S Pediatrics; 2007 Dec; 120(6):1311-6. PubMed ID: 18055681 [TBL] [Abstract][Full Text] [Related]
13. The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism. Schild L Nephrologie; 1996; 17(7):395-400. PubMed ID: 8987044 [TBL] [Abstract][Full Text] [Related]
14. Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. Hanukoglu A; Edelheit O; Shriki Y; Gizewska M; Dascal N; Hanukoglu I J Steroid Biochem Mol Biol; 2008 Sep; 111(3-5):268-74. PubMed ID: 18634878 [TBL] [Abstract][Full Text] [Related]
15. Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Hummler E; Barker P; Gatzy J; Beermann F; Verdumo C; Schmidt A; Boucher R; Rossier BC Nat Genet; 1996 Mar; 12(3):325-8. PubMed ID: 8589728 [TBL] [Abstract][Full Text] [Related]
16. Immature epithelial Na+ channel expression is one of the pathogenetic mechanisms leading to human neonatal respiratory distress syndrome. O'Brodovich HM Proc Assoc Am Physicians; 1996 Sep; 108(5):345-55. PubMed ID: 8902878 [TBL] [Abstract][Full Text] [Related]
17. Effects of ozone on airway epithelial permeability and ion transport. Bromberg PA; Ranga V; Stutts MJ Res Rep Health Eff Inst; 1991 Dec; (48):1-22; discussion 23-32. PubMed ID: 1799414 [TBL] [Abstract][Full Text] [Related]
18. Role of the amiloride-sensitive epithelial Na+ channel in the pathogenesis and as a therapeutic target for cystic fibrosis lung disease. Mall MA Exp Physiol; 2009 Feb; 94(2):171-4. PubMed ID: 19060118 [TBL] [Abstract][Full Text] [Related]
19. Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit. Thomas CP; Zhou J; Liu KZ; Mick VE; MacLaughlin E; Knowles M Am J Respir Cell Mol Biol; 2002 Sep; 27(3):314-9. PubMed ID: 12204893 [TBL] [Abstract][Full Text] [Related]
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