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1991 2
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2004 3
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Page 1
Mineralocorticoid resistance.
Zennaro MC, Lombès M. Zennaro MC, et al. Trends Endocrinol Metab. 2004 Aug;15(6):264-70. doi: 10.1016/j.tem.2004.06.003. Trends Endocrinol Metab. 2004. PMID: 15358279 Review.
Mineralocorticoid resistance, also known as type I pseudohypoaldosteronism (PHA1), is a rare inherited disease characterized by salt wasting, dehydration and failure to thrive in the newborn. ...The generalized, recessive form of the disease is due to abnormalities in the …
Mineralocorticoid resistance, also known as type I pseudohypoaldosteronism (PHA1), is a rare inherited disease characterized by salt …
[Pseudo-hypoaldosteronisms].
Vantyghem MC, Perimenis P, Wemeau JL. Vantyghem MC, et al. Presse Med. 2004 Jan 31;33(2):123-9. doi: 10.1016/s0755-4982(04)98501-6. Presse Med. 2004. PMID: 15026708 Review. French.
Congenital neonatal forms are either sporadic or autosomal dominant or recessive. Sporadic or autosomal dominant forms are caused by mutations in the mineralocorticoid receptor gene and generally remit with age. Autosomal recessive forms are cau …
Congenital neonatal forms are either sporadic or autosomal dominant or recessive. Sporadic or autosomal dominant
Mechanisms of type I and type II pseudohypoaldosteronism.
Furgeson SB, Linas S. Furgeson SB, et al. J Am Soc Nephrol. 2010 Nov;21(11):1842-5. doi: 10.1681/ASN.2010050457. Epub 2010 Sep 9. J Am Soc Nephrol. 2010. PMID: 20829405 Review.
Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney. Autosomal recessive PHAI results from mutations in
Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together
A molecular update on pseudohypoaldosteronism type II.
Pathare G, Hoenderop JG, Bindels RJ, San-Cristobal P. Pathare G, et al. Am J Physiol Renal Physiol. 2013 Dec 1;305(11):F1513-20. doi: 10.1152/ajprenal.00440.2013. Epub 2013 Oct 9. Am J Physiol Renal Physiol. 2013. PMID: 24107425 Free article. Review.
Impairment of mineralocorticoid signal transduction results in resistance to aldosterone and mineralocorticoids, and, therefore, causes disturbances in electrolyte balance. Pseudohypoaldosteronism type II (PHAII) or familial hyperkalemic hypertension (FHHt) is a rare, a
Impairment of mineralocorticoid signal transduction results in resistance to aldosterone and mineralocorticoids, and, therefore, causes dist …
Insights into the diverse mechanisms and effects of variant CUL3-induced familial hyperkalemic hypertension.
Sharma P, Chatrathi HE. Sharma P, et al. Cell Commun Signal. 2023 Oct 16;21(1):286. doi: 10.1186/s12964-023-01269-z. Cell Commun Signal. 2023. PMID: 37845702 Free PMC article. Review.
Familial hyperkalemic hypertension (FHHt), also known as Pseudohypoaldosteronism type II (PHAII) or Gordon syndrome is a rare Mendelian disease classically characterized by hyperkalemia, hyperchloremic metabolic acidosis, and high systolic blood pressure. The most severe f …
Familial hyperkalemic hypertension (FHHt), also known as Pseudohypoaldosteronism type II (PHAII) or Gordon syndrome is a rare Mendeli …
Clinical and Molecular Perspectives of Monogenic Hypertension.
Levanovich PE, Diaczok A, Rossi NF. Levanovich PE, et al. Curr Hypertens Rev. 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. Curr Hypertens Rev. 2020. PMID: 30963979 Free PMC article. Review.
Geller syndrome is due to a point mutation in the hormone responsive element of the promotor for the mineralocorticoid receptor, rendering the receptor susceptible to activation by progesterone, leading to hypertension during pregnancy. Pseudohypoaldosteronism type II (PHA …
Geller syndrome is due to a point mutation in the hormone responsive element of the promotor for the mineralocorticoid receptor, rendering t …
[Monogenic hypertension].
Bähr V, Oelkers W, Diederich S. Bähr V, et al. Med Klin (Munich). 2003 Apr 15;98(4):208-17. doi: 10.1007/s00063-003-1245-1. Med Klin (Munich). 2003. PMID: 12715144 Review. German.
Mutations in the serine-threonine kinases WNK1 or WNK4 cause pseudohypoaldosteronism type II. WNK1 and WNK4 are expressed in the distal part of the nephron. ...An extrarenal disorder is suggested to be the cause of autosomal-dominant hypertension with brachyd …
Mutations in the serine-threonine kinases WNK1 or WNK4 cause pseudohypoaldosteronism type II. WNK1 and WNK4 are expressed in the dist …
Monogenic forms of human hypertension.
Toka HR, Luft FC. Toka HR, et al. Semin Nephrol. 2002 Mar;22(2):81-8. doi: 10.1053/snep.2002.30206. Semin Nephrol. 2002. PMID: 11891501 Review.
Loss-of-function mutations in all 3 subunits of ENaC cause hypotension (pseudohypoaldosteronism type I). Thus, all 3 subunits can be mutated, causing either hyper- or hypotension. ...Autosomal-dominant hypertension with brachydactyly features normal sodium an …
Loss-of-function mutations in all 3 subunits of ENaC cause hypotension (pseudohypoaldosteronism type I). Thus, all 3 subunits can be …
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations.
Bergaya S, Vidal-Petiot E, Jeunemaitre X, Hadchouel J. Bergaya S, et al. Curr Opin Nephrol Hypertens. 2012 Jan;21(1):39-45. doi: 10.1097/MNH.0b013e32834d2fde. Curr Opin Nephrol Hypertens. 2012. PMID: 22080857 Review.
PURPOSE OF REVIEW: Pseudohypoaldosteronism type 2 (PHA2) is a rare autosomal dominant form of human arterial hypertension, associated with hyperkalemia and hyperchloremic metabolic acidosis. ...
PURPOSE OF REVIEW: Pseudohypoaldosteronism type 2 (PHA2) is a rare autosomal dominant form of human arterial hypertensi …
Glucocorticoid and mineralocorticoid resistance/hypersensitivity syndromes.
Kino T, Chrousos GP. Kino T, et al. J Endocrinol. 2001 Jun;169(3):437-45. doi: 10.1677/joe.0.1690437. J Endocrinol. 2001. PMID: 11375113 Review.
Insensitivity to mineralocorticoids (which may also be caused by loss of function mutations of the MR gene) was found in one sporadic case and four autosomal dominant cases of Pseudohypoaldosteronism type 1. These included two frameshift mutatio …
Insensitivity to mineralocorticoids (which may also be caused by loss of function mutations of the MR gene) was found in one sporadic case a …
26 results