{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Schlingmann KP"],"funding":["BLRD VA","Swiss National Science Foundation","UKGM Forschungsfoerderung","Deutsche Forschungsgemeinschaft","National Heart, Lung, and Blood Institute","NHLBI NIH HHS","University Research Priority Program (UFSP) ITINERARE","National Centre of Competence in Research","European Reference Network for Rare Kidney Diseases","National Institutes of Health"],"pagination":["1498-1512"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8259640"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["32(6)"],"pubmed_abstract":["<h4>Background</h4>The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na<sup>+</sup>,K<sup>+</sup>-ATPase function but are also involved in potassium and pH sensing. Genetic defects in <i>KCNJ10</i> cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness.<h4>Methods</h4>A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeo"],"journal":["Journal of the American Society of Nephrology : JASN"],"pubmed_title":["Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness."],"pmcid":["PMC8259640"],"funding_grant_id":["189044","R35 HL135749","I01 BX004024","387509280 SFB 1350","310030","310030_189044","21/2015MR"],"pubmed_authors":["Devuyst O","Gillion V","Knebelmann B","Renigunta A","Vargas-Poussou R","Mahendran S","Barakat TS","Lugtenberg D","Bockenhauer D","Staruschenko A","Brooks AS","Zdebik AA","Houillier P","Renigunta V","de Baaij JHF","Debaix H","Lake J","Kleta R","Hoorn EJ","Godefroid N","Schlingmann KP","Konrad M","Warth R","Rudin C","Palygin O","Tellier S","Viering D","Rousset-Rouviere C","Weber S","Forst AL","Atanasov V"],"additional_accession":[]},"is_claimable":false,"name":"Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.","description":"<h4>Background</h4>The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na<sup>+</sup>,K<sup>+</sup>-ATPase function but are also involved in potassium and pH sensing. Genetic defects in <i>KCNJ10</i> cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness.<h4>Methods</h4>A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeo","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jun","modification":"2025-04-19T20:44:45.461Z","creation":"2025-04-19T20:44:45.461Z"},"accession":"S-EPMC8259640","cross_references":{"pubmed":["33811157"],"doi":["10.1681/ASN.2020111587","10.1681/asn.2020111587"]}}