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Items: 1 to 20 of 99

1.

Increased Na reabsorption via the Na-Cl cotransporter in autosomal recessive pseudohypoaldosteronism.

Adachi M, Asakura Y, Muroya K, Tajima T, Fujieda K, Kuribayashi E, Uchida S.

Clin Exp Nephrol. 2010 Jun;14(3):228-32. doi: 10.1007/s10157-010-0277-0. Epub 2010 Apr 8.

PMID:
20376516
2.

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene.

Lee SE, Jung YH, Han KH, Lee HK, Kang HG, Ha IS, Choi Y, Cheong HI.

Korean J Pediatr. 2011 Feb;54(2):90-3. doi: 10.3345/kjp.2011.54.2.90. Epub 2011 Feb 28.

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.

PMID:
9662404
4.

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. doi: 10.1093/ndt/gfm862.

5.

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

Fernandes-Rosa FL, Antonini SR.

Arq Bras Endocrinol Metabol. 2007 Apr;51(3):373-81. Review. Portuguese.

6.

A homozygous missense mutation in SCNN1A is responsible for a transient neonatal form of pseudohypoaldosteronism type 1.

Dirlewanger M, Huser D, Zennaro MC, Girardin E, Schild L, Schwitzgebel VM.

Am J Physiol Endocrinol Metab. 2011 Sep;301(3):E467-73. doi: 10.​1152/​ajpendo.​00066.​2011. Epub 2011 Jun 7.

7.

A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.

Uchida N, Shiohara M, Miyagawa S, Yokota I, Mori T.

J Pediatr Endocrinol Metab. 2009 Jan;22(1):91-5.

PMID:
19344080
9.

Clinical and molecular features of type 1 pseudohypoaldosteronism.

Riepe FG.

Horm Res. 2009;72(1):1-9. doi: 10.1159/000224334. Epub 2009 Jun 30. Review.

10.

Differential expression of Na+-Cl- cotransporter and Na+-K+-Cl- cotransporter 2 in the distal nephrons of euryhaline and seawater pufferfishes.

Kato A, Muro T, Kimura Y, Li S, Islam Z, Ogoshi M, Doi H, Hirose S.

Am J Physiol Regul Integr Comp Physiol. 2011 Feb;300(2):R284-97. doi: 10.1152/ajpregu.00725.2009. Epub 2010 Nov 17.

11.

Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model.

Yang SS, Morimoto T, Rai T, Chiga M, Sohara E, Ohno M, Uchida K, Lin SH, Moriguchi T, Shibuya H, Kondo Y, Sasaki S, Uchida S.

Cell Metab. 2007 May;5(5):331-44.

12.

Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.

Hatta Y, Nakamura A, Hara S, Kamijo T, Iwata J, Hamajima T, Abe M, Okada M, Ushio M, Tsuyuki K, Tajima T.

Endocr J. 2013;60(3):299-304. Epub 2012 Nov 30.

13.

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. doi: 10.1111/j.1365-2265.2008.03314.x.

PMID:
18547339
14.

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 Apr 15;168(5):707-15. doi: 10.1530/EJE-12-1000. Print 2013 May.

15.

Mineralocorticoid resistance.

Zennaro MC, Lombès M.

Trends Endocrinol Metab. 2004 Aug;15(6):264-70. Review.

PMID:
15358279
16.
17.

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.

Kanda K, Nozu K, Yokoyama N, Morioka I, Miwa A, Hashimura Y, Kaito H, Iijima K, Matsuo M.

BMC Nephrol. 2009 Nov 14;10:37. doi: 10.1186/1471-2369-10-37.

18.

Expression of the thiazide-sensitive Na-Cl cotransporter by rabbit distal convoluted tubule cells.

Bachmann S, Velázquez H, Obermüller N, Reilly RF, Moser D, Ellison DH.

J Clin Invest. 1995 Nov;96(5):2510-4.

19.

Reduced urinary excretion of thiazide-sensitive Na-Cl cotransporter in Gitelman syndrome: preliminary data.

Joo KW, Lee JW, Jang HR, Heo NJ, Jeon US, Oh YK, Lim CS, Na KY, Kim J, Cheong HI, Han JS.

Am J Kidney Dis. 2007 Nov;50(5):765-73.

PMID:
17954289
20.

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.

PMID:
16972228
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