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Article

A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans.

Journal of the American Society of Nephrology : JASN - 1 Dec 1996

Su Y R, Rutkowski M P, Klanke C A, Wu X, Cui Y, Pun R Y, Carter V, Reif M, Menon A G

Abstract excerpt

The amiloride-sensitive sodium channel is responsible for the rate-limiting step of sodium reabsorption in the distal renal tubule, and thus may play a key role in the maintenance of sodium balance and blood pressure. In this study, a genetic variant that results in a change of threonine to methionine at amino acid 594 (T594 M) in the carboxy-terminus of the beta-subunit of the amiloride-sensitive sodium channel...

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Identifiers

PMID: 8989732
DOI: 10.1681/ASN.V7122543

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel variant of the beta-subunit of the amiloride-sensitive sodium channel in African Americans.PMID 8989732Read ↗

Genetic variation in the epithelial sodium channel: a risk factor for hypertension in people of African origin.Semantic proximity Read ↗

Epithelial sodium channel allele T594M is not associated with blood pressure or blood pressure response to amiloride.Semantic proximity Read ↗

The A563T variation of the renal epithelial calcium channel TRPV5 among African Americans enhances calcium influx.Semantic proximity Read ↗

T594M variant of the epithelial sodium channel beta-subunit gene and hypertension in individuals of African ancestry in South Africa.Semantic proximity Read ↗

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.Semantic proximity Read ↗

A single nucleotide polymorphism alters the activity of the renal Na+:Cl- cotransporter and reveals a role for transmembrane segment 4 in chloride and thiazide affinity.Semantic proximity Read ↗

Human epithelial Na+ channel missense variants identified in the GenSalt study alter channel activity.Semantic proximity Read ↗

Functional polymorphism in the carboxyl terminus of the alpha-subunit of the human epithelial sodium channel.Semantic proximity Read ↗

Multiple residues in the distal C terminus of the α-subunit have roles in modulating human epithelial sodium channel activity.Semantic proximity Read ↗

An Ile to Met polymorphism in the catalytic domain of adenylyl cyclase type 9 confers reduced beta2-adrenergic receptor stimulation.Semantic proximity Read ↗

T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension.Semantic proximity Read ↗

Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome.Semantic proximity Read ↗

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