ROMK mutations from TOPMed and ClinVar show varying growth defects in yeast in low potassium medium.

<p>(A) Schematic of a yeast-based assay to assess the activity of a human potassium channel. A yeast strain lacking endogenous potassium transporters, Trk1 and Trk2, is viable, yet unable to grow on medium containing low potassium, unless a human potassium channel (e.g., Kir2.1 or ROMK) is exp...

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التفاصيل البيبلوغرافية
المؤلف الرئيسي:	Nga H. Nguyen (2075920) (author)
مؤلفون آخرون:	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)
منشور في:	2023
الموضوعات:	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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ROMK mutations from TOPMed and ClinVar show varying growth defects in yeast in low potassium medium.

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