154 related articles for article (PubMed ID: 12204893)
1. 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]
2. 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]
3. 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]
4. Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.
Saxena A; Hanukoglu I; Saxena D; Thompson RJ; Gardiner RM; Hanukoglu A
J Clin Endocrinol Metab; 2002 Jul; 87(7):3344-50. PubMed ID: 12107247
[TBL] [Abstract][Full Text] [Related]
5. Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype.
McDonald FJ; Yang B; Hrstka RF; Drummond HA; Tarr DE; McCray PB; Stokes JB; Welsh MJ; Williamson RA
Proc Natl Acad Sci U S A; 1999 Feb; 96(4):1727-31. PubMed ID: 9990092
[TBL] [Abstract][Full Text] [Related]
6. 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]
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. Pseudohypoaldosteronism type 1 and respiratory distress syndrome.
Akçay A; Yavuz T; Semiz S; Bundak R; Demirdöven M
J Pediatr Endocrinol Metab; 2002; 15(9):1557-61. PubMed ID: 12503866
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. Systemic Pseudohypoaldosteronism Type 1 due to 3 Novel Mutations in SCNN1Aand SCNN1BGenes.
Cayir A; Demirelli Y; Yildiz D; Kahveci H; Yarali O; Kurnaz E; Vuralli D; Demirbilek H
Horm Res Paediatr; 2019; 91(3):175-185. PubMed ID: 31018202
[TBL] [Abstract][Full Text] [Related]
14. Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?
Arai K; Zachman K; Shibasaki T; Chrousos GP
J Clin Endocrinol Metab; 1999 Jul; 84(7):2434-7. PubMed ID: 10404817
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1.
Oh YS; Warnock DG
Exp Nephrol; 2000; 8(6):320-5. PubMed ID: 11014928
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Compound heterozygous mutations in the gamma subunit gene of ENaC (1627delG and 1570-1G-->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1.
Adachi M; Tachibana K; Asakura Y; Abe S; Nakae J; Tajima T; Fujieda K
J Clin Endocrinol Metab; 2001 Jan; 86(1):9-12. PubMed ID: 11231969
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A mouse model for the renal salt-wasting syndrome pseudohypoaldosteronism.
Hummler E; Barker P; Talbot C; Wang Q; Verdumo C; Grubb B; Gatzy J; Burnier M; Horisberger JD; Beermann F; Boucher R; Rossier BC
Proc Natl Acad Sci U S A; 1997 Oct; 94(21):11710-5. PubMed ID: 9326675
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
