Article

Genome mining yields new disease-associated ROMK variants with distinct defects

2023-05-08

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. Although there is no cure for this disease, specific genes that lead to different Bartter syndrome subtypes have been identified. Bartter syndrome type II specifically arises from mutations in the KCNJ1 g...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a982840a-083f-5b65-a546-90214dde01fb
DOI: 10.1101/2023.05.05.539609

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genome mining yields new disease-associated ROMK variants with distinct defectsDOI 10.1101/2023.05.05.539609Read

Genome mining yields putative disease-associated ROMK variants with distinct defects.Semantic proximity Read

Characterization of hyperactive mutations in the renal potassium channel ROMK uncovers unique effects on channel biogenesis and ion conductance.Semantic proximity Read

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.Semantic proximity Read

Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.Semantic proximity Read

Complementary computational and experimental evaluation of missense variants in the ROMK potassium channel.Semantic proximity Read

Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.Semantic proximity Read

Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment.Semantic proximity Read

Identification of Rare Variants Causing Early-Onset Bartter Syndrome: a Clinical, Genetic, and Biophysical StudySemantic proximity Read

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.Semantic proximity Read

Identification and functional characterization of two novel mutations in <i>KCNJ10</i> and <i>PI4KB</i> in SeSAME syndrome without electrolyte imbalanceSemantic proximity Read

Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome.Semantic proximity Read

Disease Associated Mutations in KIR Proteins Linked to Aberrant Inward Rectifier Channel Trafficking.Semantic proximity Read