Articles with "kcnj5 gene" as a keyword



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Regulation of the KCNJ5 gene by SF-1 in the adrenal cortex: Complete genomic organization and promoter function

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Published in 2020 at "Molecular and Cellular Endocrinology"

DOI: 10.1016/j.mce.2019.110657

Abstract: Activating mutations in the KCNJ5 gene are responsible for the significant number of aldosterone-producing adenomas. To elucidate the molecular mechanisms underlying KCNJ5 expression, we characterized the entire human KCNJ5 gene. The gene spanned approximately 29.8 kb… read more here.

Keywords: kcnj5 gene; adrenal cortex; regulation kcnj5; promoter ... See more keywords
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Characterization of a mutated KCNJ5 gene, G387R, in unilateral primary aldosteronism.

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Published in 2021 at "Journal of molecular endocrinology"

DOI: 10.1530/jme-20-0282

Abstract: 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… read more here.

Keywords: kcnj5; mutated kcnj5; kcnj5 gene; kcnj5 mutations ... See more keywords