The T300R mutation in ROMK abolishes channel currents.

(A) Top panel: Currents recorded by two-electrode voltage clamps (TEVC) in X. laevis oocytes. Oocytes from female Xenopus laevis were injected with 1 ng of the indicated cRNAs, or the equivalent volume of water. 20–30 hr following cRN...

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Bibliographic Details
Main Author:	Nga H. Nguyen (2075920) (author)
Other Authors:	Srikant Sarangi (56020) (author), Erin M. McChesney (17382924) (author), Shaohu Sheng (17382927) (author), Jacob D. Durrant (177210) (author), Aidan W. Porter (17382930) (author), Thomas R. Kleyman (12116581) (author), Zachary W. Pitluk (17382933) (author), Jeffrey L. Brodsky (351261) (author)
Published:	2023
Subjects:	Biochemistry Medicine Cell Biology Genetics Cancer Biological Sciences not elsewhere classified Mathematical Sciences not elsewhere classified rare genetic disorders might similarly lead impairing electrolyte reabsorption clinical features consistent associated alleles linked predicts mutation pathogenicity one mutation uncovered verified computational algorithm identify individuals carrying examined genomic data compromise kidney function premature degradation via div >< p 40 bartter syndrome er associated degradation two parallel approaches associated romk variants premature degradation bartter syndrome another mutation phenotypic data new computational function relationship er ), identify disease associated mutations x </ uk biobank turn results romk structure romk biogenesis results outline potassium channels nih topmed mostly uncharacterized left untreated laevis </ kcnj1 </ experimental pipeline endoplasmic reticulum destabilized romk clinvar databases channel activity apparent based analyzed using
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The T300R mutation in ROMK abolishes channel currents.

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