201 related articles for article (PubMed ID: 15690192)
1. A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome.
Freundlich M; Ludwig M
Pediatr Nephrol; 2005 Apr; 20(4):512-5. PubMed ID: 15690192
[TBL] [Abstract][Full Text] [Related]
2. Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report.
Kozina AA; Trofimova TA; Okuneva EG; Baryshnikova NV; Obuhova VA; Krasnenko AY; Tsukanov KY; Klimchuk OI; Surkova EI; Shatalov PA; Ilinsky VV
BMC Nephrol; 2019 Oct; 20(1):389. PubMed ID: 31655555
[TBL] [Abstract][Full Text] [Related]
3. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.
Polfus LM; Boerwinkle E; Gibbs RA; Metcalf G; Muzny D; Veeraraghavan N; Grove M; Shete S; Wallace S; Milewicz D; Hanchard N; Lupski JR; Hashmi SS; Gupta-Malhotra M
Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001255. PubMed ID: 27900368
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Genetic analysis of the epithelial sodium channel in Liddle's syndrome.
Uehara Y; Sasaguri M; Kinoshita A; Tsuji E; Kiyose H; Taniguchi H; Noda K; Ideishi M; Inoue J; Tomita K; Arakawa K
J Hypertens; 1998 Aug; 16(8):1131-5. PubMed ID: 9794716
[TBL] [Abstract][Full Text] [Related]
6. Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.
Jeunemaitre X; Bassilana F; Persu A; Dumont C; Champigny G; Lazdunski M; Corvol P; Barbry P
J Hypertens; 1997 Oct; 15(10):1091-100. PubMed ID: 9350583
[TBL] [Abstract][Full Text] [Related]
7. Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel--a report of five affected family members.
Gao PJ; Zhang KX; Zhu DL; He X; Han ZY; Zhan YM; Yang LW
J Hypertens; 2001 May; 19(5):885-9. PubMed ID: 11393671
[TBL] [Abstract][Full Text] [Related]
8. The epithelial sodium channel in hypertension: genetic heterogeneity and implications for treatment with amiloride.
Swift PA; MacGregor GA
Am J Pharmacogenomics; 2004; 4(3):161-8. PubMed ID: 15174897
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Liddle syndrome: genetics and mechanisms of Na+ channel defects.
Warnock DG
Am J Med Sci; 2001 Dec; 322(6):302-7. PubMed ID: 11780687
[TBL] [Abstract][Full Text] [Related]
11. A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.
Hansson JH; Schild L; Lu Y; Wilson TA; Gautschi I; Shimkets R; Nelson-Williams C; Rossier BC; Lifton RP
Proc Natl Acad Sci U S A; 1995 Dec; 92(25):11495-9. PubMed ID: 8524790
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Liddle syndrome in a Serbian family and literature review of underlying mutations.
Bogdanović R; Kuburović V; Stajić N; Mughal SS; Hilger A; Ninić S; Prijić S; Ludwig M
Eur J Pediatr; 2012 Mar; 171(3):471-8. PubMed ID: 21956615
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case.
Yang KQ; Lu CX; Xiao Y; Liu YX; Jiang XJ; Zhang X; Zhou XL
Clin Endocrinol (Oxf); 2015 Apr; 82(4):611-4. PubMed ID: 25378078
[TBL] [Abstract][Full Text] [Related]
18. A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome.
Mareš Š; Filipovský J; Vlková K; Pešta M; Černá V; Hrabák J; Mlíková Seidlerová J; Mayer O
Blood Press; 2021 Oct; 30(5):291-299. PubMed ID: 34223773
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Liddle syndrome: Pathogenesis, pathophysiology, and therapy].
Ohta A; Sasaki S
Nihon Rinsho; 2006 Feb; 64 Suppl 2():513-6. PubMed ID: 16523945
[No Abstract] [Full Text] [Related]
[Next] [New Search]