Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.

Proceedings of the National Academy of Sciences of the United States of America - 26 May 1998

Karet F E, Gainza F J, Györy A Z, Unwin R J, Wrong O, Tanner M J, Nayir A, Alpay H, Santos F, Hulton S A, Bakkaloglu A, Ozen S, Cunningham M J, di Pietro A, Walker W G, Lifton R P

Abstract excerpt

Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either autosomal dominant or recessive transmission are described. Mutations in the ch...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Genes, Dominant

Share to Genes, Recessive

Share to Infant

Share to Infant, Newborn

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 9600966
DOI: 10.1073/pnas.95.11.6337
PMCID: PMC27686

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9600966-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.PMID 9600966Read ↗

Hereditary distal renal tubular acidosis: new understandings.Semantic proximity Read ↗

Inherited renal tubular acidosis.Semantic proximity Read ↗

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.Semantic proximity Read ↗

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.Semantic proximity Read ↗

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.Semantic proximity Read ↗

Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.Semantic proximity Read ↗

Familial renal tubular acidosis.Semantic proximity Read ↗

A Novel Missense Mutation in AE1 Causing Autosomal Dominant Distal Renal Tubular Acidosis Retains Normal Transport Function but Is Mistargeted in Polarized Epithelial CellsSemantic proximity Read ↗

A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.Semantic proximity Read ↗

Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis.Semantic proximity Read ↗

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.Semantic proximity Read ↗

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.