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KMID : 1141520170320030332
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Endocrinology and Metabolism
2017 Volume.32 No. 3 p.332 ~ p.338
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CTNNB1 Mutation in Aldosterone Producing Adenoma
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Wang Jian Jhong
Peng Kang Yung
Wu Vin Cent
Tseng Fen Yu
Wu Kwan Dun
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Abstract
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Discoveries of somatic mutations permit the recognition of subtypes of aldosterone-producing adenomas (APAs) with distinct clinical presentations and pathological features. Catenin β1 (CTNNB1) mutation in APAs has been recently described and discussed in the literature. However, significant knowledge gaps still remain regarding the prevalence, clinical characteristics, pathophysiology, and outcomes in APA patients harboring CTNNB1 mutations. Aberrant activation of the Wnt/β-catenin signaling pathway will further modulate tumorigenesis. We also discuss the recent knowledge of CTNNB1 mutation in adrenal adenomas.
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KEYWORD
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CBTNN1, KCNJ5, Primary aldosteronism, Aldosterone producing adenomas, Taiwan Primary Aldosteronism Investigator
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