Why the study?
Does pharmacologic manipulation remedy reduced potassium-channel current caused by KCNK3 mutations in familial and idiopathic pulmonary arterial hypertension?
Does pharmacologic manipulation remedy reduced potassium-channel current caused by KCNK3 mutations in familial and idiopathic pulmonary arterial hypertension?
Identifies KCNK3 mutations as a novel genetic cause of familial and idiopathic pulmonary arterial hypertension, demonstrating functional defects that are pharmacologically reversible.
Our study identified the association of a novel gene, KCNK3, with familial and idiopathic pulmonary arterial hypertension. Mutations in this gene produced reduced potassium-channel current, which was successfully remedied by pharmacologic manipulation. (Funded by the National Institutes of Health.)
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Ma et al. (2013) studied this question.
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