Article
Genome mining yields putative disease-associated ROMK variants with distinct defects.
PLoS genetics - 1 Nov 2023
Nguyen Nga H, Sarangi Srikant, McChesney Erin M, Sheng Shaohu, Durrant Jacob D, Porter Aidan W, Kleyman Thomas R, Pitluk Zachary W, Brodsky Jeffrey L
Abstract excerpt
Bartter syndrome is a group of rare genetic disorders that compromise kidney function by impairing electrolyte reabsorption. Left untreated, the resulting hyponatremia, hypokalemia, and dehydration can be fatal, and there is currently no cure. Bartter syndrome type II specifically arises from mutations in KCNJ1, which encodes the renal outer medullary potassium channel, ROMK. Over 40 Bartter syndrome-associated...
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