| 1 | A homozygous missense mutation in SCNN1A is responsib le for a transient neonatal form of pseudohypoaldosteronism type 1. (21653223) | Dirlewanger M.... Schwitzgebel V.M. | 2011 | SCNN1A |
| 2 | Identification of a novel WNK4 mutation in Chinese pa tients with pseudohypoaldosteronism type II. (21196779) | Zhang C.... Chen N. | 2011 | SLC12A3, WNK4 |
| 3 | Mineralocorticoid receptor mutations differentially a ffect individual gene expression profiles in pseudohypoaldosteronism type 1. (21159846) | Fernandes-Rosa F.L.... Zennaro M.C. | 2011 | NR3C2 |
| 4 | Pseudohypoaldosteronism type 1 due to a novel mutatio n in the mineralocorticoid receptor gene. (20453518) | Loomba-Albrecht L.A.... Bremer A.A. | 2010 | NR3C2 |
| 5 | Truncated beta epithelial sodium channel (ENaC) subun its responsible for multi-system pseudohypoaldosteronism support partial activi ty of ENaC. (20064610) | Edelheit O.... Hanukoglu A. | 2010 | SCNN1A, SCNN1B, SCNN1G |
| 6 | A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1. (19344080) | Uchida N.... Mori T. | 2009 | NR3C2, SCNN1G |
| 7 | Autosomal dominant pseudohypoaldosteronism type 1 wit h a novel splice site mutation in MR gene. (19912655) | Kanda K.... Matsuo M. | 2009 | NR3C2 |
| 8 | Renin-aldosterone response, urinary Na/K ratio and growth in pseudohypoaldosteronism patients with mutations in epithelial sodium channel (ENaC) subunit genes. (18634878) | Hanukoglu A.... Hanukoglu I. | 2008 | SCNN1A, SCNN1B |
| 9 | Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. (16972228) | Pujo L.... Zennaro M.-C. | 2007 | NR3C2 |
| 10 | Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families. (17317952) | Riepe F.G.... Holterhus P.M. | 2007 | SGK1, SCNN1A, EPHA3 |
| 11 | Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1. (17287415) | Balsamo A.... Riepe F.G. | 2007 | NR3C2 |
| 12 | Mineralocorticoid resistance: pseudohypoaldosteronism type 1 (17546235) | Fernandes-Rosa F.L.... Antonini S.R. | 2007 | SCNN1G |
| 13 | 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. (16757525) | Fernandes-Rosa F.L.... Antonini S.R. | 2006 | SCNN1G |
| 14 | Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. (16611713) | Geller D.S.... Lifton R.P. | 2006 | NR3C2 |
| 15 | No evidence of hearing loss in pseudohypoaldosteronism type 1 patients. (16618647) | Peters T.A.... Monnens L.A. | 2006 | NR3C2 |
| 16 | A new kindred with pseudohypoaldosteronism type II and a novel mutation (564D>H) in the acidic motif of the WNK4 gene. (15998707) | Golbang A.P.... O'Shaughnessy K.M. | 2005 | KCNJ1, SLC12A3, WNK4 |
| 17 | Normal CFTR Activity and Reversed Skin Potentials in Pseudohypoaldosteronism. (15986094) | Reddy M.M.... Quinton P.M. | 2005 | CFTR |
| 18 | Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism. (15853823) | Edelheit O.... Hanukoglu A. | 2005 | SCNN1A, SCNN1B |
| 19 | Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism. (15134810) | Sartorato P.... Zennaro M.C. | 2004 | REN, NR3C2 |
| 20 | Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene. (15126534) | Riepe F.G.... Partsch C.J. | 2004 | SCNN1G |
| 21 | Pseudohypoaldosteronism type 1 and the genes encoding prostasin, alpha-spectrin, and Nedd4. (15547682) | Ludwig M.... Reissinger A. | 2004 | NEDD4, PRSS8, NR3C2 |
| 22 | Genetic heterogeneity in autosomal dominant pseudohypoaldosteronism type I: exclusion of claudin-8 as a candidate gene. (15345917) | Huey C.L.... Yu A.S. | 2004 | NR3C2, CLDN8 |
| 23 | Pseudohypoaldosteronism presenting as acute gastroenteritis: report of one case. (12800385) | Yu M.C.... Hou J.W. | 2003 | REN |
| 24 | Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism. (12788847) | Sartorato P.... Zennaro M.-C. | 2003 | NR4A1, NR3C2 |
| 25 | 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. (12679457) | Riepe F.G.... Partsch C.J. | 2003 | NR3C2 |
| 26 | Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. (12483305) | Arai K.... Shibasaki T. | 2003 | NR3C2, ASIC5 |
| 27 | Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit. (12204893) | Thomas C.P.... Knowles M. | 2002 | REN, SCNN1B |
| 28 | Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes. (12107247) | Saxena A.... Hanukoglu A. | 2002 | SCNN1A, SCNN1B, SCNN1G |
| 29 | 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. (11344206) | Viemann M.... Sippell W.G. | 2001 | NR3C2, SCNN1G |
| 30 | 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. (11231969) | Adachi M.... Fujieda K. | 2001 | SCNN1G |
| 31 | A new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertension. (10869238) | Disse-Nicodeme S.... Jeunemaitre X. | 2000 | REN, SCNN1A, WNK1 |
| 32 | Disorders of the epithelial Na(+) channel in Liddle's syndrome and autosomal recessive pseudohypoaldosteronism type 1. (11014928) | Oh Y.S.... Warnock D.G. | 2000 | SCNN1G |
| 33 | Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential? (10404817) | Arai K.... Chrousos G.P. | 1999 | SCNN1A, SCNN1B, NR3C2 |
| 34 | Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel. (10586178) | Schaedel C.... Holmberg L. | 1999 | SCNN1A |
| 35 | A mutation causing pseudohypoaldosteronism type 1 identifies a conserved glycine that is involved in the gating of the epithelial sodium channel. (9118951) | Grunder S.... Rossier B.C. | 1997 | SCNN1B |
| 36 | Pseudohypoaldosteronism due to renal and multisystem resistance to mineralocorticoids respond differently to carbenoxolone. (9182864) | Hanukoglu A.... Hanukoglu I. | 1997 | NR3C1, NR3C2 |
| 37 | Severe pseudohypoaldosteronism in a pair of twins not associated with hydramnios. (8865238) | Bistritzer T.... Aladjem M. | 1996 | REN |
| 38 | Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. (8589714) | Chang S.S.... Lifton R.P. | 1996 | SCNN1A, SCNN1B |
| 39 | A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. (8640238) | Strautnieks S.S.... Chung E. | 1996 | SCNN1B, SCNN1G |
| 40 | Pseudohypoaldosteronism: options for consideration. (7792807) | Komesaroff P.A. | 1995 | NR3C2 |
| 41 | Pseudohypoaldosteronism: evaluation of type I receptors by radioreceptor assay and by antireceptor antibodies. (7792805) | Armanini D.... Kuhnle U. | 1995 | NR3C2 |
| 42 | Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. (7593448) | Chung E.... Gardiner R.M. | 1995 | SCNN1G |
| 43 | Familial pseudohypoaldosteronism: a review on the heterogeneity of the syndrome. (7792804) | Kuhnle U.... Krozowski Z. | 1995 | REN |
| 44 | Immunofluorescence of mineralocorticoid receptors in peripheral lymphocytes: presence of receptor-like activity in patients with the autosomal dominant form of pseudohypoaldosteronism, and its absence in the recessive form. (7826888) | Kuhnle U.... Krozowski Z. | 1994 | NR3C2 |
| 45 | Physiological and molecular aspects of mineralocorticoid receptor action in pseudohypoaldosteronism: a responsiveness test and therapy. (7962269) | Arai K.... Chrousos G.P. | 1994 | NR3C2 |
| 46 | Reduced Na+, K(+)-ATPase activity in patients with pseudohypoaldosteronism. (8190530) | Bistritzer T.... Aladjem M. | 1994 | REN |
| 47 | Type II pseudohypoaldosteronism. Report of a case and review of the literature. (7930391) | Muhammad S.... Tucci J.R. | 1994 | REN |
| 48 | No alteration in the primary structure of the mineralocorticoid receptor in a family with pseudohypoaldosteronism. (8027248) | Zennaro M.C.... Soubrier F. | 1994 | NR3C2 |
| 49 | Pseudohypoaldosteronism: molecular characterization of the mineralocorticoid receptor. (8027241) | Komesaroff P.A.... Fuller P.J. | 1994 | NR3C2 |
| 50 | Apparent mineralocorticoid excess, pseudohypoaldosteronism, and urinary electrolyte excretion: toward a redefinition of mineralocorticoid action. (2172062) | Funder J.W.... Roy L.P. | 1990 | NR3C1, NR3C2 |
Kidney -> Distal Tubule -> 
