A Meta-Analysis of Somatic KCNJ5 K+ Channel Mutations In 1636 Patients With an Aldosterone-Producing Adenoma

L Lenzini, G Rossitto, G Maiolino… - The Journal of …, 2015 - academic.oup.com
Context: Due to selection biases and inadequate statistical power, individual studies may fail
to identify the clinical features of patients with an aldosterone-producing adenoma (APA) …

Primary aldosteronism: changing definitions and new concepts of physiology and pathophysiology both inside and outside the kidney

M Stowasser, RD Gordon - Physiological reviews, 2016 - journals.physiology.org
In the 60 years that have passed since the discovery of the mineralocorticoid hormone
aldosterone, much has been learned about its synthesis (both adrenal and extra-adrenal) …

Targeted molecular characterization of aldosterone-producing adenomas in white Americans

K Nanba, K Omata, T Else, PCC Beck… - The Journal of …, 2018 - academic.oup.com
Context Somatic mutations have been identified in more than half of aldosterone-producing
adenomas (APAs) through mutation hotspot sequencing. The underlying pathogenesis of …

Genetic characteristics of aldosterone-producing adenomas in blacks

K Nanba, K Omata, CE Gomez-Sanchez… - …, 2019 - Am Heart Assoc
Somatic mutations have been identified in aldosterone-producing adenomas (APAs) in
genes that include KCNJ5, ATP1A1, ATP2B3, and CACNA1D. Based on independent …

Primary aldosteronism: molecular medicine meets public health

EAB Azizan, WM Drake, MJ Brown - Nature Reviews Nephrology, 2023 - nature.com
Primary aldosteronism is the most common single cause of hypertension and is potentially
curable when only one adrenal gland is the culprit. The importance of primary aldosteronism …

Clinical characteristics of somatic mutations in Chinese patients with aldosterone-producing adenoma

FF Zheng, LM Zhu, AF Nie, XY Li, JR Lin, K Zhang… - …, 2015 - Am Heart Assoc
Recent studies have shown that somatic mutations in the KCNJ5, ATP1A1, ATP2B3, and
CACNA1D genes are associated with the pathogenesis of aldosterone-producing adenoma …

The Biology of Normal Zona Glomerulosa and Aldosterone-Producing Adenoma: Pathological Implications

TM Seccia, B Caroccia, EP Gomez-Sanchez… - Endocrine …, 2018 - academic.oup.com
The identification of several germline and somatic ion channel mutations in aldosterone-
producing adenomas (APAs) and detection of cell clusters that can be responsible for …

Genetic causes of functional adrenocortical adenomas

MC Zennaro, S Boulkroun… - Endocrine …, 2017 - academic.oup.com
Aldosterone and cortisol, the main mineralocorticoid and glucocorticoid hormones in
humans, are produced in the adrenal cortex, which is composed of three concentric zones …

The roles of Gβγ and Gα in gating and regulation of GIRK channels

N Dascal, U Kahanovitch - International review of neurobiology, 2015 - Elsevier
Abstract G protein-gated K+(GIRK, or Kir3) channels mediate inhibitory neurotransmission
via G protein-coupled receptors (GPCRs) in heart and brain. The signaling cascade involves …

Sodium permeable and “hypersensitive” TREK‐1 channels cause ventricular tachycardia

N Decher, B Ortiz‐Bonnin, C Friedrich… - EMBO molecular …, 2017 - embopress.org
In a patient with right ventricular outflow tract (RVOT) tachycardia, we identified a
heterozygous point mutation in the selectivity filter of the stretch‐activated K2P potassium …