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Year Number of Results
1991 2
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2006 1
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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 …
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 …
[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.
Acquired forms are associated with salt wasting of urinary (nephropathy) or digestive (colon resection + ileostomy) origin. Congenital neonatal forms are either sporadic or autosomal dominant or recessive. Sporadic or autosomal dominant forms are cause …
Acquired forms are associated with salt wasting of urinary (nephropathy) or digestive (colon resection + ileostomy) origin. Congenital neona …
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 …
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 …
Mechanisms and controversies in mutant Cul3-mediated familial hyperkalemic hypertension.
Ferdaus MZ, McCormick JA. Ferdaus MZ, et al. Am J Physiol Renal Physiol. 2018 May 1;314(5):F915-F920. doi: 10.1152/ajprenal.00593.2017. Epub 2018 Jan 17. Am J Physiol Renal Physiol. 2018. PMID: 29361671 Free PMC article. Review.
Autosomal dominant mutations in cullin-3 ( Cul3) cause the most severe form of familial hyperkalemic hypertension (FHHt). ...We recently directly tested this model but found that other dominant effects of CUL3-9 must contribute to the development of FHHt. ...
Autosomal dominant mutations in cullin-3 ( Cul3) cause the most severe form of familial hyperkalemic hypertension (FHHt). ...W …
WNK signalling pathways in blood pressure regulation.
Murthy M, Kurz T, O'Shaughnessy KM. Murthy M, et al. Cell Mol Life Sci. 2017 Apr;74(7):1261-1280. doi: 10.1007/s00018-016-2402-z. Epub 2016 Nov 4. Cell Mol Life Sci. 2017. PMID: 27815594 Free PMC article. Review.
One in particular is Familial hyperkalemic hypertension (FHHt), an autosomal dominant monogenic form of hypertension characterised by high blood pressure, hyperkalemia, hyperchloremic metabolic acidosis, and hypercalciuria. ...
One in particular is Familial hyperkalemic hypertension (FHHt), an autosomal dominant monogenic form of hypertension character …
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 …
[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. Stimulation of sodium reabsorption by aldosterone is normal but without influence on hyperkalemia. An extrarenal dis …
Mutations in the serine-threonine kinases WNK1 or WNK4 cause pseudohypoaldosteronism type II. WNK1 and WNK4 are expressed in the dist …
26 results