IndraLab

Statements


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"As outlined above, somatic CACNA1D variants in APAs and APCCs cause excess aldosterone production and primary aldosteronism although they seem not to directly contribute to abnormal cell proliferation and adenoma formation [XREF_BIBR]."

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"CACNA1D mutation (V1153G) causes adrenal cortical proliferation and aldosterone (Ald)-producing adenoma [3]."

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"Today, somatic mutations in KCNJ5, CACNA1D, ATP1A1, ATP2B3, and CTNNB1 are well known to drive the excessive production of aldosterone [7]."

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"In contrast, CACNA1D mutated aldosterone producing micronodules or aldosterone producing nodules were frequently detected not only in primary aldosteronism patients but also in the zona glomerulosa of normal adrenal glands, which could eventually lead to an autonomous aldosterone production resulting in normotensive or overt primary aldosteronism, but their details have remained unknown."

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"Mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1 are thought to cause the excessive autonomous aldosterone secretion of aldosterone producing adenomas (APAs)."

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"Aldosterone-producing adenoma (APA) is a subtype of primary aldosteronism, and somatic mutations in KCNJ5, ATP1A1, ATP2B3, CACNA1D, CLCN2, or CTNNB1 were identified and recognized to drive aldosterone production and/or contribute to tumorigenesis in APA."

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"Unlike the discrete hotspots for somatic mutation in all other genes causing autonomous aldosterone production, >60 mutations have been reported in CACNA1D since our first report of seven in 2013, with up to four different mutations in the same adrenal ."