| Autor: |
Teo, Ada, Garg, Sumedha, Shaikh, Lalarukh Haris, Zhou, Junhua, Karet, Fiona, Gurnell, Mark, Happerfield, Lisa, Marker, Alison, Bienz, Mariann, Azizan, Elena AB, Brown, Morris J |
| Přispěvatelé: |
Teo, Ada [0000-0002-8832-0409], Karet, Fiona [0000-0002-2457-2869], Gurnell, Mark [0000-0001-5745-6832], Apollo - University of Cambridge Repository |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Popis: |
Recent discoveries of somatic mutations permit the recognition of sub-types of aldosterone-producing adenomas (APA) with different clinical presentations and pathology. Here we describe two women who presented in pregnancy, and one woman who presented post-menopause, with hyperaldosteronism. Their APAs harbored activating mutations of CTNNB1, encoding β-catenin in the Wnt cell-differentiation pathway, and expressed >100-fold higher levels of LHCGR and GNRHR, encoding gonadal receptors, than other APAs. The mutations stimulate Wnt activation and cause adrenocortical cells to de-differentiate towards their common gonad-adrenal precursor cell-type. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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