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A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
Fernandes-Rosa FL, Daniil G, Orozco IJ, Göppner C, El Zein R, Jain V, Boulkroun S, Jeunemaitre X, Amar L, Lefebvre H, Schwarzmayr T, Strom TM, Jentsch TJ, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: zennaro mc. Nat Genet. 2018 Mar;50(3):355-361. doi: 10.1038/s41588-018-0053-8. Epub 2018 Feb 5. Nat Genet. 2018. PMID: 29403012 Free article.
Mineralocorticoid receptor mutations differentially affect individual gene expression profiles in pseudohypoaldosteronism type 1.
Fernandes-Rosa FL, Hubert EL, Fagart J, Tchitchek N, Gomes D, Jouanno E, Benecke A, Rafestin-Oblin ME, Jeunemaitre X, Antonini SR, Zennaro MC. Fernandes-Rosa FL, et al. Among authors: zennaro mc. J Clin Endocrinol Metab. 2011 Mar;96(3):E519-27. doi: 10.1210/jc.2010-1486. Epub 2010 Dec 15. J Clin Endocrinol Metab. 2011. PMID: 21159846
Mutations in KCNJ5 gene cause hyperaldosteronism.
Zennaro MC, Jeunemaitre X. Zennaro MC, et al. Circ Res. 2011 Jun 10;108(12):1417-8. doi: 10.1161/RES.0b013e318224a359. Circ Res. 2011. PMID: 21659651 Free article. Review. No abstract available.
135 results