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Article

Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.

Kidney international - 1 May 2001

Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth H W, Daut J, Karschin A, Konrad M

Abstract excerpt

BACKGROUND: The renal K(+) channel ROMK (Kir1.1) controls salt reabsorption in the kidney. Loss-of-function mutations in this channel cause hyperprostaglandin E syndrome/antenatal Bartter syndrome (HPS/aBS), which is characterized by severe renal salt and fluid wasting. METHODS: We investigated 1...

Topics

Animals
Bartter Syndrome
Base Sequence
Child, Preschool
Codon, Nonsense
DNA Primers
Exons
Female
Genetic Linkage
Humans
In Vitro Techniques
Infant
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Mutation, Missense

Oocytes

Pedigree

Potassium Channels

Source

Identifiers

PMID: 11318951
DOI: 10.1046/j.1523-1755.2001.0590051803.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11318951-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome.PMID 11318951Read ↗

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

Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function.Semantic proximity Read ↗

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

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

Genome mining yields new disease-associated ROMK variants with distinct defectsSemantic 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 ↗

A Bartter's syndrome mutation of ROMK1 exerts dominant negative effects on K(+) conductance.Semantic proximity Read ↗

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 ↗

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

The Kir channel immunoglobulin domain is essential for Kir1.1 (ROMK) thermodynamic stability, trafficking and gating.Semantic proximity Read ↗

Absence of small conductance K+ channel (SK) activity in apical membranes of thick ascending limb and cortical collecting duct in ROMK (Bartter's) knockout mice.Semantic proximity Read ↗

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