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NR3C2
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
NR3C2
gene.
Chen SY, Bhargava A, Mastroberardino L, Meijer OC, Wang J, Buse P, Firestone GL, Verrey F, Pearce D. Epithelial sodium channel regulated by aldosterone-induced protein sgk. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2514-9.
PubMed citation
Entrez
Gene
Geller DS, Farhi A, Pinkerton N, Fradley M, Moritz M, Spitzer A, Meinke G, Tsai FT, Sigler PB, Lifton RP. Activating mineralocorticoid receptor mutation in hypertension exacerbated by pregnancy. Science. 2000 Jul 7;289(5476):119-23.
PubMed citation
Kolla V, Litwack G. Transcriptional regulation of the human Na/K ATPase via the human mineralocorticoid receptor. Mol Cell Biochem. 2000 Jan;204(1-2):35-40.
PubMed citation
Martinez F, Mansego ML, Escudero JC, Redon J, Chaves FJ. Association of a mineralocorticoid receptor gene polymorphism with hypertension in a Spanish population. Am J Hypertens. 2009 Jun;22(6):649-55. doi: 10.1038/ajh.2009.39. Epub 2009 Mar 26.
PubMed citation
OMIM:
NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER
2
Pujo L, Fagart J, Gary F, Papadimitriou DT, Claës A, Jeunemaître X, Zennaro MC. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat. 2007 Jan;28(1):33-40.
PubMed citation
Rafestin-Oblin ME, Souque A, Bocchi B, Pinon G, Fagart J, Vandewalle A. The severe form of hypertension caused by the activating S810L mutation in the mineralocorticoid receptor is cortisone related. Endocrinology. 2003 Feb;144(2):528-33.
PubMed citation
Riepe FG, Finkeldei J, de Sanctis L, Einaudi S, Testa A, Karges B, Peter M, Viemann M, Grötzinger J, Sippell WG, Fejes-Toth G, Krone N. Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 2006 Nov;91(11):4552-61. Epub 2006 Sep 5.
PubMed citation
van Leeuwen N, Caprio M, Blaya C, Fumeron F, Sartorato P, Ronconi V, Giacchetti G, Mantero F, Fernandes-Rosa FL, Simian C, Peyrard S, Zitman FG, Penninx BW, de Kloet ER, Azizi M, Jeunemaitre X, Derijk RH, Zennaro MC. The functional c.-2G>C variant of the mineralocorticoid receptor modulates blood pressure, renin, and aldosterone levels. Hypertension. 2010 Nov;56(5):995-1002. doi: 10.1161/HYPERTENSIONAHA.110.155630. Epub 2010 Sep 20.
PubMed citation
Viengchareun S, Le Menuet D, Martinerie L, Munier M, Pascual-Le Tallec L, Lombès M. The mineralocorticoid receptor: insights into its molecular and (patho)physiological biology. Nucl Recept Signal. 2007 Nov 30;5:e012. doi: 10.1621/nrs.05012. Review.
PubMed citation
Reviewed: December 2011
Published: June 17, 2013