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Article

Characterization of a mutated KCNJ5 gene, G387R, in unilateral primary aldosteronism.

Journal of molecular endocrinology - 28 Sept 2021

Chueh Jeff S, Peng Kang-Yung, Wu Vin-Cent, Wang Shuo-Meng, Chan Chieh-Kai, Chen Yung-Ming, Ke Yi-Yu, Pan Chien-Yuan, Liao Hung-Wei

Abstract excerpt

Somatic mutation in the KCNJ5 gene is a common driver of autonomous aldosterone overproduction in aldosterone-producing adenomas (APA). KCNJ5 mutations contribute to a loss of potassium selectivity, and an inward Na+ current could be detected in cells transfected with mutated KCNJ5. Among 223 unilateral primary aldosteronism (uPA) individuals with a KCNJ5 mutation, we identified 6 adenomas with a KCNJ5...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 34463641
DOI: 10.1530/JME-20-0282

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