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

Human molecular genetics - 1 Jun 1998

Schwalbe R A, Bianchi L, Accili E A, Brown A M

Abstract excerpt

The antenatal variant of Bartter's syndrome is an autosomal recessive kidney disease characterized by polyhydramnios, premature delivery, hypokalemic alkalosis and hypercalciuria. It is genetically heterogeneous, having been linked recently to mutations in an ATP-sensitive, renal outer medullary...

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Potassium Channels

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PMID: 9580661
DOI: 10.1093/hmg/7.6.975

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-9580661-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

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

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Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment.PMID 9580661Read ↗

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

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

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

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

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

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

Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome.Semantic proximity Read ↗

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.Semantic proximity Read ↗

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A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect.Semantic proximity Read ↗

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