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

Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Sept 1997

Rysavá R, Tesar V, Jirsa M, Brabec V, Jarolím P

Abstract excerpt

BACKGROUND: Band 3 (anion exchanger 1, AE1) is one of the most abundant proteins of the erythrocyte membrane. We have previously characterized twenty AE1 gene defects underlying spherocytic haemolytic anaemia with band 3 deficiency. Since AE1 is also expressed in the intercalated cells of renal cortical collecting ducts where it is thought to participate in urine acidification, we asked whether the...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Anion Exchange Protein 1, Erythrocyte

Share to Erythrocytes

Share to Hydrogen-Ion Concentration

Share to Kidney Diseases

Share to Mutation

Share to Sulfates

Source

Identifiers

PMID: 9306337
DOI: 10.1093/ndt/12.9.1869

Provenance

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene.PMID 9306337Read ↗

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

The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene.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 ↗

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.Semantic proximity Read ↗

The structure and function of band 3 (AE1): Recent developments (Review)Semantic proximity Read ↗

Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.Semantic proximity Read ↗

Band 3 function and dysfunction in a structural context.Semantic proximity Read ↗

Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.Semantic proximity Read ↗

A novel SLC4A1 mutation in a 7 years-old Italian boy with hereditary spherocytosis and distal renal tubular acidosisSemantic 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 ↗

Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene.Semantic proximity Read ↗

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

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