The epithelial sodium channel (ENaC) is composed of three homologous subunits and
allows the flow of Na+ ions across high resistance epithelia, maintaining body salt and water …

The identification of genes causing inherited kidney diseases yielded crucial insights in the
molecular basis of disease and improved our understanding of physiological processes that …

Background In protein engineering, site-directed mutagenesis methods are used to
generate DNA sequences with mutated codons, insertions or deletions. In a widely used …

The acid‐sensing ion channels (ASICs) and epithelial sodium channels (ENaC) are
members of a superfamily of channels that play critical roles in mechanosensation …

A major function of the skin is the regulation of body temperature by sweat secretions. Sweat
glands secrete water and salt, especially NaCl. Excreted water evaporates, cooling the skin …

Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid
resistance causing insufficient potassium and hydrogen secretion. PHA type 1 (PHA1) …

Spermatogenesis starts within the seminiferous tubules of the testis by mitotic division of
spermatogonia that produces spermatocytes. Meiotic division of these spermatocytes …

Aldosterone plays an essential role in the maintenance of fluid and electrolyte homeostasis
in the distal nephron. Loss-of-function mutations in two key components of the aldosterone …

Aldosterone is crucial for regulating sodium conservation in the kidney, salivary glands,
sweat glands, and colon. This adrenal steroid hormone acts via the mineralocorticoid …

Introduction Gitelman syndrome (GS) is a tubulopathy caused by SLC12A3 gene mutations,
which lead to hypokalaemic alkalosis, secondary hyperaldosteronism, hypomagnesaemia …