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Biomaterials 280 , 121302 (2022)

This phenomenon is thought to result from Wnt/-catenin pathway activation and the consequent dedifferentiation of adrenal cortical cells, permitting the ectopic expression of gonadal hormone receptors ( CTNNB1 mutations are not exclusive to female patients, as evidenced by their presence in male patients as well ( LHCGR and GNRHR expression has been detected in approximately 45% of APAs, suggesting a more complex underlying pathophysiology than initially proposed ( CTNNB1 co-existing with GNA11/GNAQ mutations at position Q209 in three subjects ( LHCGR expression, most of whom presented with PA during the first trimester of pregnancy ( Whole-exome sequencing of APAs also discovered CADM1 (encoding cell adhesion molecule 1) G379D and V380D somatic mutations in two hypertensive subjects with periodic presentation of PA, who were completely cured post-adrenalectomy ( CADM1 mutations inhibit gap junction intercellular communication between aldosterone-producing cells

[DOI] [PubMed] [Google Scholar] 49.Facciorusso A., Straus Takahashi M., Eyileten Postula C., Buccino V.R., Muscatiello N

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