279 related articles for article (PubMed ID: 16972228)
1. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.
Pujo L; Fagart J; Gary F; Papadimitriou DT; Claës A; Jeunemaître X; Zennaro MC
Hum Mutat; 2007 Jan; 28(1):33-40. PubMed ID: 16972228
[TBL] [Abstract][Full Text] [Related]
2. Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.
Sartorato P; Khaldi Y; Lapeyraque AL; Armanini D; Kuhnle U; Salomon R; Caprio M; Viengchareun S; Lombès M; Zennaro MC
Mol Cell Endocrinol; 2004 Mar; 217(1-2):119-25. PubMed ID: 15134810
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Mineralocorticoid resistance.
Zennaro MC; Lombès M
Trends Endocrinol Metab; 2004 Aug; 15(6):264-70. PubMed ID: 15358279
[TBL] [Abstract][Full Text] [Related]
5. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.
Riepe FG; Finkeldei J; de Sanctis L; Einaudi S; Testa A; Karges B; Peter M; Viemann M; Grötzinger J; Sippell WG; Fejes-Toth G; Krone N
J Clin Endocrinol Metab; 2006 Nov; 91(11):4552-61. PubMed ID: 16954160
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.
Tajima T; Kitagawa H; Yokoya S; Tachibana K; Adachi M; Nakae J; Suwa S; Katoh S; Fujieda K
J Clin Endocrinol Metab; 2000 Dec; 85(12):4690-4. PubMed ID: 11134129
[TBL] [Abstract][Full Text] [Related]
8. Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene.
Fernandes-Rosa FL; de Castro M; Latronico AC; Sippell WG; Riepe FG; Antonini SR
J Clin Endocrinol Metab; 2006 Sep; 91(9):3671-5. PubMed ID: 16757525
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Genetic disorders caused by gain or loss of function of the mineralocorticoid receptor].
Arai K; Shibasaki T
Nihon Rinsho; 2002 Feb; 60(2):361-6. PubMed ID: 11857927
[TBL] [Abstract][Full Text] [Related]
11. 30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.
Zennaro MC; Fernandes-Rosa F
J Endocrinol; 2017 Jul; 234(1):T93-T106. PubMed ID: 28348114
[TBL] [Abstract][Full Text] [Related]
12. Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.
Sartorato P; Lapeyraque AL; Armanini D; Kuhnle U; Khaldi Y; Salomon R; Abadie V; Di Battista E; Naselli A; Racine A; Bosio M; Caprio M; Poulet-Young V; Chabrolle JP; Niaudet P; De Gennes C; Lecornec MH; Poisson E; Fusco AM; Loli P; Lombès M; Zennaro MC
J Clin Endocrinol Metab; 2003 Jun; 88(6):2508-17. PubMed ID: 12788847
[TBL] [Abstract][Full Text] [Related]
13. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds.
Viemann M; Peter M; López-Siguero JP; Simic-Schleicher G; Sippell WG
J Clin Endocrinol Metab; 2001 May; 86(5):2056-9. PubMed ID: 11344206
[TBL] [Abstract][Full Text] [Related]
14. Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.
Riepe FG; Krone N; Morlot M; Peter M; Sippell WG; Partsch CJ
J Clin Endocrinol Metab; 2004 May; 89(5):2150-2. PubMed ID: 15126534
[TBL] [Abstract][Full Text] [Related]
15. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.
Geller DS; Zhang J; Zennaro MC; Vallo-Boado A; Rodriguez-Soriano J; Furu L; Haws R; Metzger D; Botelho B; Karaviti L; Haqq AM; Corey H; Janssens S; Corvol P; Lifton RP
J Am Soc Nephrol; 2006 May; 17(5):1429-36. PubMed ID: 16611713
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.
Fernandes-Rosa FL; Hubert EL; Fagart J; Tchitchek N; Gomes D; Jouanno E; Benecke A; Rafestin-Oblin ME; Jeunemaitre X; Antonini SR; Zennaro MC
J Clin Endocrinol Metab; 2011 Mar; 96(3):E519-27. PubMed ID: 21159846
[TBL] [Abstract][Full Text] [Related]
18. [Mineralocorticoid resistance: pseudohypoaldosteronism type 1].
Fernandes-Rosa FL; Antonini SR
Arq Bras Endocrinol Metabol; 2007 Apr; 51(3):373-81. PubMed ID: 17546235
[TBL] [Abstract][Full Text] [Related]
19. Aldosterone resistance: structural and functional considerations and new perspectives.
Zennaro MC; Hubert EL; Fernandes-Rosa FL
Mol Cell Endocrinol; 2012 Mar; 350(2):206-15. PubMed ID: 21664233
[TBL] [Abstract][Full Text] [Related]
20. A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1).
Nyström AM; Bondeson ML; Skanke N; Mårtensson J; Strömberg B; Gustafsson J; Annerén G
J Clin Endocrinol Metab; 2004 Jan; 89(1):227-31. PubMed ID: 14715854
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
