Population
A 62-year-old woman with primary aldosteronism and adrenal adenoma, and HAC15 adrenal cells in vitro.
Comparison
KCNJ5(Y152C) mutation vs Wild-type KCNJ5 channel
Design
Preclinical
Authors
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Reveals KCNJ5-driven aldosterone excess mechanism in familial hyperaldosteronism; leaves open therapeutic targeting in humans.
A novel germline KCNJ5 mutation (p.Y152C) causes familial hyperaldosteronism type III by altering channel permeability and increasing aldosterone synthase expression.
Monticone et al. (2013) studied this question.
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