Pathophysiology of mild hypercortisolism: from the bench to the bedside

V Favero, A Cremaschi, C Parazzoli, A Falchetti… - International Journal of …, 2022 - mdpi.com
Mild hypercortisolism is defined as biochemical evidence of abnormal cortisol secretion
without the classical detectable manifestations of overt Cushing's syndrome and, above all …

MicroRNAs and long non-coding RNAs in adrenocortical carcinoma

M Detomas, C Pivonello, B Pellegrini, LS Landwehr… - Cells, 2022 - mdpi.com
Non-coding RNAs (ncRNAs) are a type of genetic material that do not encode proteins but
regulate the gene expression at an epigenetic level, such as microRNAs (miRNAs) and long …

Mislocalization of protein kinase A drives pathology in Cushing's syndrome

MH Omar, DP Byrne, KN Jones, TM Lakey, KB Collins… - Cell reports, 2022 - cell.com
Mutations in the catalytic subunit of protein kinase A (PKAc) drive the stress hormone
disorder adrenal Cushing's syndrome. We define mechanisms of action for the PKAc-L205R …

Genomic classification of benign adrenocortical lesions

S Faillot, T Foulonneau, M Néou… - Endocrine-Related …, 2021 - erc.bioscientifica.com
Benign adrenal tumors cover a spectrum of lesions with distinct morphology and steroid
secretion. Current classification is empirical. Beyond a few driver mutations …

Targeted mutational analysis of cortisol-producing adenomas

J Rege, J Hoxie, CJ Liu, MN Cash… - The Journal of …, 2022 - academic.oup.com
Context Somatic gene mutations have been identified in only about half of cortisol-producing
adenomas (CPAs). Affected genes include PRKACA, GNAS, PRKAR1A, and CTNNB1 …

Identifying new potential biomarkers in adrenocortical tumors based on mRNA expression data using machine learning

A Marquardt, LS Landwehr, CL Ronchi, G Di Dalmazi… - Cancers, 2021 - mdpi.com
Simple Summary Using a visual-based clustering method on the TCGA RNA sequencing
data of a large adrenocortical carcinoma (ACC) cohort, we were able to classify these …

Mild autonomous cortisol secretion: pathophysiology, comorbidities and management approaches

A Prete, I Bancos - Nature Reviews Endocrinology, 2024 - nature.com
The majority of incidentally discovered adrenal tumours are benign adrenocortical
adenomas and the prevalence of adrenocortical adenomas is around 1–7% on cross …

Molecular mechanisms of functional adrenocortical adenoma and carcinoma: genetic characterization and intracellular signaling pathway

H Shimada, Y Yamazaki, A Sugawara, H Sasano… - Biomedicines, 2021 - mdpi.com
The adrenal cortex produces steroid hormones as adrenocortical hormones in the body,
secreting mineralocorticoids, glucocorticoids, and adrenal androgens, which are all …

Case Report: Consecutive Adrenal Cushing's Syndrome and Cushing's Disease in a Patient With Somatic CTNNB1, USP8, and NR3C1 Mutations

M Detomas, B Altieri, W Schlötelburg… - Frontiers in …, 2021 - frontiersin.org
The occurrence of different subtypes of endogenous Cushing's syndrome (CS) in single
individuals is extremely rare. We here present the case of a female patient who was …

Genotype-specific cortisol production associated with Cushing's syndrome adenoma with PRKACA mutations

R Baba, K Oki, CE Gomez-Sanchez, Y Otagaki… - Molecular and cellular …, 2021 - Elsevier
The intracellular molecular mechanisms underlying the genotype of cortisol-producing
adenoma (CPA) have not been fully determined. We analyzed gene expressions in CPA …