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A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium.
Kuppusamy M, Caroccia B, Stindl J, Bandulik S, Lenzini L, Gioco F, Fishman V, Zanotti G, Gomez-Sanchez C, Bader M, Warth R, Rossi GP. Kuppusamy M, et al. J Clin Endocrinol Metab. 2014 Sep;99(9):E1765-73. doi: 10.1210/jc.2014-1927. Epub 2014 Jul 24. J Clin Endocrinol Metab. 2014. PMID: 25057880 Free PMC article.
Pathophysiology of adrenal hypertension.
Moneva MH, Gomez-Sanchez CE. Moneva MH, et al. Semin Nephrol. 2002 Jan;22(1):44-53. Semin Nephrol. 2002. PMID: 11785068 Review.
Activating mutations in CTNNB1 in aldosterone producing adenomas.
Åkerström T, Maharjan R, Sven Willenberg H, Cupisti K, Ip J, Moser A, Stålberg P, Robinson B, Alexander Iwen K, Dralle H, Walz MK, Lehnert H, Sidhu S, Gomez-Sanchez C, Hellman P, Björklund P. Åkerström T, et al. Sci Rep. 2016 Jan 27;6:19546. doi: 10.1038/srep19546. Sci Rep. 2016. PMID: 26815163 Free PMC article.
416 results