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

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout.

Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2016

Petru Lenka, Pavelcova Katerina, Sebesta Ivan, Stiburkova Blanka

Abstract excerpt

Hyperuricemia depends on the balance of endogenous production and renal excretion of uric acid. Transporters for urate are located in the proximal tubule where uric acid is secreted and extensively reabsorbed: secretion is principally ensured by the highly variable ABCG2 gene. Enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) plays a central role in purine metabolism and its deficiency is an X-linked...

Read the complete abstract on PubMed

Topics

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

Share to ATP Binding Cassette Transporter, Subfamily G, Member 2
Share to Chronic Disease

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

Share to Genetic Background

Share to Hypoxanthine Phosphoribosyltransferase

Share to Neoplasm Proteins

Share to Organic Anion Transporters

Share to Uric Acid

Source

Identifiers

PMID: 27288985
DOI: 10.1016/j.cca.2016.06.007

Genes

ABCG2
HPRT1

Variants

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

Genetic background of uric acid metabolism in a patient with severe chronic tophaceous gout.PMID 27288985Read ↗

New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout.Semantic proximity Read ↗

Metabolic Interactions of Purine Derivatives with Human ABC Transporter ABCG2: Genetic Testing to Assess Gout RiskSemantic proximity Read ↗

Genetic background of selected hyperuricemia causing gout with pediatric onset.Semantic proximity Read ↗

GLUT9 influences uric acid concentration in patients with Lesch-Nyhan disease.Semantic proximity Read ↗

Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.Semantic proximity Read ↗

ABCG2 polymorphisms in gout: insights into disease susceptibility and treatment approachesSemantic proximity Read ↗

Genetic polymorphisms and decreased protein expression of ABCG2 urate transporters are associated with susceptibility to gout, disease severity and renal-overload hyperuricemia.Semantic proximity Read ↗

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.Semantic proximity Read ↗

[ROLE OF SLC2A9 AND ABCG2 GENE POLYMORPHISMS IN ORIGIN OF HYPERURICEMIA AND GOUT].Semantic proximity Read ↗

Gout, genetics and ABC transportersSemantic proximity Read ↗

Hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with a Madrid II mutation.Semantic proximity Read ↗

Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.Semantic proximity Read ↗

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