Aldosterone is a steroid hormone synthesized in and secreted from the outer layer of the adrenal cortex, the zona glomerulosa. Aldosterone is responsible for regulating sodium …
FL Fernandes-Rosa, G Daniil, IJ Orozco, C Göppner… - Nature …, 2018 - nature.com
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary …
CE Gomez-Sanchez, X Qi, C Velarde-Miranda… - Molecular and cellular …, 2014 - Elsevier
The final enzymes in the biosynthesis of aldosterone and cortisol are by the cytochrome P450 CYP11B2 and CYP11B1, respectively. The enzymes are 93% homologous at the …
G Daniil, FL Fernandes-Rosa, J Chemin, I Blesneac… - …, 2016 - thelancet.com
Primary aldosteronism (PA) is the most common form of secondary hypertension. Mutations in KCNJ5, ATP1A1, ATP2B3 and CACNA1D are found in aldosterone producing adenoma …
E Le Floch, T Cosentino, CK Larsen… - Nature …, 2022 - nature.com
Primary aldosteronism affects up to 10% of hypertensive patients and is responsible for treatment resistance and increased cardiovascular risk. Here we perform a genome-wide …
UI Scholl, L Abriola, C Zhang… - The Journal of …, 2017 - Am Soc Clin Investig
Aldosterone-producing adenomas (APAs) are benign tumors of the adrenal gland that constitutively produce the salt-retaining steroid hormone aldosterone and cause millions of …
EN Reimer, G Walenda, E Seidel, UI Scholl - Endocrinology, 2016 - academic.oup.com
We recently demonstrated that a recurrent gain-of-function mutation in a T-type calcium channel, CACNA1HM1549V, causes a novel Mendelian disorder featuring early-onset …
R van der Pas, LJ Hofland, J Hofland… - Journal of …, 2012 - researchgate.net
The antifungal agent ketoconazole is often used to suppress cortisol production in patients with Cushing's syndrome (CS). However, ketoconazole has serious side effects and is …
Triple A syndrome is caused by mutations in AAAS encoding the protein ALADIN. We investigated the role of ALADIN in the human adrenocortical cell line NCI-H295R1 by either …