Article
Novel Insertion Mutation in KCNJ5 Channel Produces Constitutive Aldosterone Release From H295R Cells.
Molecular endocrinology (Baltimore, Md.) - 1 Oct 2015
Hardege Iris, Xu Shengxin, Gordon Richard D, Thompson Andrew J, Figg Nichola, Stowasser Michael, Murrell-Lagnado Ruth, O'Shaughnessy Kevin M
Abstract excerpt
Primary aldosteronism accounts for 5%-10% of hypertension and in a third of cases is caused by autonomous aldosterone production by adenomas (APA). Somatic mutations in the potassium channel encoded by KCNJ5 have been detected in surgically removed APAs. To better understand the role of these mutations, we resequenced the KCNJ5 channel in a large Australian primary aldosteronism cohort. KCNJ5 mutations were...
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