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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 10 HPS/aBS patients for mutations in the ROMK gene by single-strand conformation polymorphism analysis (SSCA) and direct...

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Identifiers

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

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

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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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