Article
Somatic ATP1A1, ATP2B3, and KCNJ5 mutations in aldosterone-producing adenomas.
Hypertension (Dallas, Tex. : 1979) - 1 Jan 2014
Williams Tracy Ann, Monticone Silvia, Schack Vivien R, Stindl Julia, Burrello Jacopo, Buffolo Fabrizio, Annaratone Laura, Castellano Isabella, Beuschlein Felix, Reincke Martin, Lucatello Barbara, Ronconi Vanessa, Fallo Francesco, Bernini Giampaolo, Maccario Mauro, Giacchetti Gilberta, Veglio Franco, Warth Richard, Vilsen Bente, Mulatero Paolo
Abstract excerpt
Aldosterone-producing adenomas (APAs) cause a sporadic form of primary aldosteronism and somatic mutations in the KCNJ5 gene, which encodes the G-protein-activated inward rectifier K(+) channel 4, GIRK4, account for ≈40% of APAs. Additional somatic APA mutations were identified recently in 2 other genes, ATP1A1 and ATP2B3, encoding Na(+)/K(+)-ATPase 1 and Ca(2+)-ATPase 3, respectively, at a combined prevalence of...
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