Article
Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function.
Human molecular genetics - 15 Sept 2017
Berthon A, Faucz F R, Espiard S, Drougat L, Bertherat J, Stratakis C A
Abstract excerpt
Inactivating mutations in the Armadillo repeat-containing 5 (ARMC5) gene have recently been discovered in primary macronodular adrenal hyperplasia (PMAH), a cause of Cushing syndrome. Biallelic ARMC5 inactivation in PMAH suggested that ARMC5 may have tumor suppressor functions in the adrenal cortex. We generated and characterized a new mouse model of Armc5 deficiency. Almost all Armc5 knockout mice died during...
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