254 related articles for article (PubMed ID: 18547339)
1. 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]
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. 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]
4. Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.
Welzel M; Akin L; Büscher A; Güran T; Hauffa BP; Högler W; Leonards J; Karges B; Kentrup H; Kirel B; Senses EE; Tekin N; Holterhus PM; Riepe FG
Eur J Endocrinol; 2013 May; 168(5):707-15. PubMed ID: 23416952
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation of the epithelial Na+ channel causes type 1 pseudohypoaldosteronism.
Bonny O; Knoers N; Monnens L; Rossier BC
Pediatr Nephrol; 2002 Oct; 17(10):804-8. PubMed ID: 12376807
[TBL] [Abstract][Full Text] [Related]
6. Liddle's syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit.
Rossi E; Farnetti E; Debonneville A; Nicoli D; Grasselli C; Regolisti G; Negro A; Perazzoli F; Casali B; Mantero F; Staub O
J Hypertens; 2008 May; 26(5):921-7. PubMed ID: 18398334
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.
Strautnieks SS; Thompson RJ; Gardiner RM; Chung E
Nat Genet; 1996 Jun; 13(2):248-50. PubMed ID: 8640238
[TBL] [Abstract][Full Text] [Related]
9. A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the
Efthymiadou A; Gautschi I; van Bemmelen MX; Sertedaki A; Giannakopoulos A; Chrousos G; Schild L; Chrysis D
Am J Physiol Endocrinol Metab; 2023 Jul; 325(1):E1-E9. PubMed ID: 37134141
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.
Geller DS; Rodriguez-Soriano J; Vallo Boado A; Schifter S; Bayer M; Chang SS; Lifton RP
Nat Genet; 1998 Jul; 19(3):279-81. PubMed ID: 9662404
[TBL] [Abstract][Full Text] [Related]
12. A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.
Dirlewanger M; Huser D; Zennaro MC; Girardin E; Schild L; Schwitzgebel VM
Am J Physiol Endocrinol Metab; 2011 Sep; 301(3):E467-73. PubMed ID: 21653223
[TBL] [Abstract][Full Text] [Related]
13. Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families.
Riepe FG; Holterhus PM
Am J Nephrol; 2007; 27(2):164-9. PubMed ID: 17317952
[TBL] [Abstract][Full Text] [Related]
14. A novel splice site mutation of the beta subunit gene of epithelial sodium channel (ENaC) in one Turkish patient with a systemic form of pseudohypoaldosteronism Type 1.
Dogan CS; Erdem D; Mesut P; Merve A; Sema A; Iffet B; Afig B
J Pediatr Endocrinol Metab; 2012; 25(9-10):1035-9. PubMed ID: 23426840
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease.
Azad AK; Rauh R; Vermeulen F; Jaspers M; Korbmacher J; Boissier B; Bassinet L; Fichou Y; des Georges M; Stanke F; De Boeck K; Dupont L; Balascáková M; Hjelte L; Lebecque P; Radojkovic D; Castellani C; Schwartz M; Stuhrmann M; Schwarz M; Skalicka V; de Monestrol I; Girodon E; Férec C; Claustres M; Tümmler B; Cassiman JJ; Korbmacher C; Cuppens H
Hum Mutat; 2009 Jul; 30(7):1093-103. PubMed ID: 19462466
[TBL] [Abstract][Full Text] [Related]
16. Novel mutations in the SCNN1A gene causing Pseudohypoaldosteronism type 1.
Wang J; Yu T; Yin L; Li J; Yu L; Shen Y; Yu Y; Shen Y; Fu Q
PLoS One; 2013; 8(6):e65676. PubMed ID: 23762408
[TBL] [Abstract][Full Text] [Related]
17. Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town.
Serra G; Antona V; D'Alessandro MM; Maggio MC; Verde V; Corsello G
Ital J Pediatr; 2021 Jun; 47(1):138. PubMed ID: 34134742
[TBL] [Abstract][Full Text] [Related]
18. Pseudohypoaldosteronisms, report on a 10-patient series.
Belot A; Ranchin B; Fichtner C; Pujo L; Rossier BC; Liutkus A; Morlat C; Nicolino M; Zennaro MC; Cochat P
Nephrol Dial Transplant; 2008 May; 23(5):1636-41. PubMed ID: 18424465
[TBL] [Abstract][Full Text] [Related]
19. A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1.
Ekinci Z; Aytac MB; Cheong HI
J Pediatr Endocrinol Metab; 2013; 26(11-12):1197-200. PubMed ID: 23813355
[TBL] [Abstract][Full Text] [Related]
20. Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit.
Bonny O; Chraibi A; Loffing J; Jaeger NF; Gründer S; Horisberger JD; Rossier BC
J Clin Invest; 1999 Oct; 104(7):967-74. PubMed ID: 10510337
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
