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

doi:10.1046/j.1523-1755.2003.00153.x

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Article

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

Kidney international - 1 Sept 2003

Peters Melanie, Ermert Saskia, Jeck Nikola, Derst Christian, Pechmann Ulla, Weber Stefanie, Schlingmann Karl P, Seyberth Hannsjoerg W, Waldegger Siegfried, Konrad Martin

Abstract excerpt

BACKGROUND: Mutations in the renal K+ channel ROMK (Kir 1.1) cause hyperprostaglandin E syndrome/antenatal Bartter syndrome (HPS/aBS), a severe tubular disorder leading to renal salt and water wasting. Several studies confirmed the predominance of alterations of current properties in ROMK mutants. However, in most of these studies, analysis was restricted to nonmammalian cells and electrophysiologic methods....

Topics

Animals
Bartter Syndrome
Cell Line
Codon, Terminator
DNA Mutational Analysis
Electrophysiology
Fetal Diseases
Gentamicins
Humans
Immunohistochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Oocytes

Potassium Channels

Potassium Channels, Inwardly Rectifying

Prostaglandins E

Rats

Staining and Labeling

Syndrome

Source

Open in PubMed

Identifiers

PMID: 12911542
DOI: 10.1046/j.1523-1755.2003.00153.x

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Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome.PMID 12911542Read ↗

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

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Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.Semantic proximity Read ↗

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