These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 17317952)

  • 1. 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]  

  • 2. 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]  

  • 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 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.
    Gopal-Kothandapani JS; Doshi AB; Smith K; Christian M; Mushtaq T; Banerjee I; Padidela R; Ramakrishnan R; Owen C; Cheetham T; Dimitri P
    J Pediatr Endocrinol Metab; 2019 Sep; 32(9):959-967. PubMed ID: 31301676
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Mineralocorticoid resistance.
    Zennaro MC; Lombès M
    Trends Endocrinol Metab; 2004 Aug; 15(6):264-70. PubMed ID: 15358279
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.