Cheek DB, Perry JW: A salt wasting syndrome in infancy. Arch Dis Child. 1958, 33 (169): 252-256. 10.1136/adc.33.169.252.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hanukoglu A: Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects. J Clin Endocrinol Metab. 1991, 73 (5): 936-944. 10.1210/jcem-73-5-936.
Article
CAS
PubMed
Google Scholar
Chang SS, Grunder S, Hanukoglu A, Rosler A, Mathew PM, Hanukoglu I, Schild L, Lu Y, Shimkets RA, Nelson-Williams C, et al: Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet. 1996, 12 (3): 248-253. 10.1038/ng0396-248.
Article
CAS
PubMed
Google Scholar
Strautnieks SS, Thompson RJ, Gardiner RM, Chung E: A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet. 1996, 13 (2): 248-250. 10.1038/ng0696-248.
Article
CAS
PubMed
Google Scholar
Geller DS, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang SS, Lifton RP: Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I. Nat Genet. 1998, 19 (3): 279-281. 10.1038/966.
Article
CAS
PubMed
Google Scholar
Zennaro MC, Keightley MC, Kotelevtsev Y, Conway GS, Soubrier F, Fuller PJ: Human mineralocorticoid receptor genomic structure and identification of expressed isoforms. J Biol Chem. 1995, 270 (36): 21016-21020. 10.1074/jbc.270.36.21016.
Article
CAS
PubMed
Google Scholar
Sartorato P, Lapeyraque AL, Armanini D, Kuhnle U, Khaldi Y, Salomon R, Abadie V, Di Battista E, Naselli A, Racine A, et al: Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. J Clin Endocrinol Metab. 2003, 88 (6): 2508-2517. 10.1210/jc.2002-021932.
Article
CAS
PubMed
Google Scholar
Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K: A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2000, 85 (12): 4690-4694. 10.1210/jc.85.12.4690.
Article
CAS
PubMed
Google Scholar
Viemann M, Peter M, Lopez-Siguero JP, Simic-Schleicher G, Sippell WG: 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. J Clin Endocrinol Metab. 2001, 86 (5): 2056-2059. 10.1210/jc.86.5.2056.
Article
CAS
PubMed
Google Scholar
Riepe FG, Krone N, Morlot M, Ludwig M, Sippell WG, Partsch CJ: Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity. J Clin Endocrinol Metab. 2003, 88 (4): 1683-1686. 10.1210/jc.2002-021556.
Article
CAS
PubMed
Google Scholar
Nystrom AM, Bondeson ML, Skanke N, Martensson J, Stromberg B, Gustafsson J, Anneren G: A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1). J Clin Endocrinol Metab. 2004, 89 (1): 227-231. 10.1210/jc.2003-030762.
Article
PubMed
Google Scholar
Riepe FG, Krone N, Morlot M, Peter M, Sippell WG, Partsch CJ: Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. J Clin Endocrinol Metab. 2004, 89 (5): 2150-2152. 10.1210/jc.2003-031555.
Article
CAS
PubMed
Google Scholar
Sartorato P, Khaldi Y, Lapeyraque AL, Armanini D, Kuhnle U, Salomon R, Caprio M, Viengchareun S, Lombes M, Zennaro MC: Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. Mol Cell Endocrinol. 2004, 217 (1-2): 119-125. 10.1016/j.mce.2003.10.017.
Article
CAS
PubMed
Google Scholar
Geller DS, Zhang J, Zennaro MC, Vallo-Boado A, Rodriguez-Soriano J, Furu L, Haws R, Metzger D, Botelho B, Karaviti L, et al: Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol. 2006, 17 (5): 1429-1436. 10.1681/ASN.2005111188.
Article
CAS
PubMed
Google Scholar
Pujo L, Fagart J, Gary F, Papadimitriou DT, Claes A, Jeunemaitre X, Zennaro MC: Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007, 28 (1): 33-40. 10.1002/humu.20371.
Article
CAS
PubMed
Google Scholar
Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grotzinger J, Sippell WG, et al: Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2006, 91 (11): 4552-4561. 10.1210/jc.2006-1161.
Article
CAS
PubMed
Google Scholar
Balsamo A, Cicognani A, Gennari M, Sippell WG, Menabo S, Baronio F, Riepe FG: Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. Eur J Endocrinol. 2007, 156 (2): 249-256. 10.1530/eje.1.02330.
Article
CAS
PubMed
Google Scholar
Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, Shibasaki T: Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Hum Genet. 2003, 112 (1): 91-97. 10.1007/s00439-002-0855-7.
Article
PubMed
Google Scholar
Riepe FG: Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm Res. 2009, 72 (1): 1-9. 10.1159/000224334.
Article
CAS
PubMed
Google Scholar
Kuzmiak HA, Maquat LE: Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med. 2006, 12 (7): 306-316. 10.1016/j.molmed.2006.05.005.
Article
CAS
PubMed
Google Scholar
Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV: Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. Kidney Int. 2000, 58 (2): 520-527. 10.1046/j.1523-1755.2000.00198.x.
Article
CAS
PubMed
Google Scholar
Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Suminaga R, Ishida A, Iijima K, et al: Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome. Pediatr Res. 2007, 61 (4): 502-505. 10.1203/01.pdr.0000265051.26718.b5.
Article
PubMed
Google Scholar
Iida K, Nozu K, Takahashi Y, Okimura Y, Kaji H, Matsuo M, Chihara K: Characterization of a splicing abnormality in Gitelman syndrome. Am J Kidney Dis. 2008, 51 (6): 1077-1078. 10.1053/j.ajkd.2008.03.031.
Article
PubMed
Google Scholar
Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, et al: Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome. Nephrol Dial Transplant. 2008, 23 (8): 2525-2530. 10.1093/ndt/gfn005.
Article
CAS
PubMed
Google Scholar