Publications by authors named "E Humberg"
Somatic mutations of the potassium channel KCNJ5 are found in 40% of aldosterone producing adenomas (APAs). APA-related mutations of KCNJ5 lead to a pathological Na(+) permeability and a rise in cytosolic Ca(2+), the latter presumably by depolarizing the membrane and activating voltage-gated Ca(2+) channels. The aim of this study was to further investigate the effects of mutated KCNJ5 channels on intracellular Na(+) and Ca(2+) homeostasis in human adrenocortical NCI-H295R cells.
View Article and Find Full Text PDFGenetically modified mice represent important models for elucidating renal pathophysiology, but gene deletions frequently cause severe failure to thrive. In such cases, the analysis of the phenotype is often limited to the first weeks of life when renal excretory function undergoes dramatic physiological changes. Here, we investigated the postnatal dynamics of urinary ion excretion in mice.
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- Mutations in the KCNJ10 gene lead to EAST syndrome, which includes symptoms such as epilepsy, ataxia (loss of coordination), sensorineural deafness, and issues with salt absorption in the kidneys.
- The salt-wasting problem in EAST syndrome arises due to defects in the kidneys' distal convoluted tubule, where the KCNJ10 gene is crucial for potassium transport.
- This review discusses the molecular physiology and pathophysiology of KCNJ10 in relation to the function of the distal convoluted tubule.