Article
Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.
PloS one - 1 Jan 2012
Åkerström Tobias, Crona Joakim, Delgado Verdugo Alberto, Starker Lee F, Cupisti Kenko, Willenberg Holger S, Knoefel Wolfram T, Saeger Wolfgang, Feller Alfred, Ip Julian, Soon Patsy, Anlauf Martin, Alesina Pier F, Schmid Kurt W, Decaussin Myriam, Levillain Pierre, Wängberg Bo, Peix Jean-Louis, Robinson Bruce, Zedenius Jan, Bäckdahl Martin, Caramuta Stefano, Iwen K Alexander, Botling Johan, Stålberg Peter, Kraimps Jean-Louis, Dralle Henning, Hellman Per, Sidhu Stan, Westin Gunnar, Lehnert Hendrik, Walz Martin K, Åkerström Göran, Carling Tobias, Choi Murim, Lifton Richard P, Björklund Peyman
Abstract excerpt
BACKGROUND: Aldosterone producing lesions are a common cause of hypertension, but genetic alterations for tumorigenesis have been unclear. Recently, either of two recurrent somatic missense mutations (G151R or L168R) was found in the potassium channel KCNJ5 gene in aldosterone producing adenomas. These mutations alter the channel selectivity filter and result in Na(+) conductance and cell depolarization,...
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