ArticlePloS one2011
Clinical and functional characterization of URAT1 variants.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 60 citations in OpenAlex.
- Gene-environment interaction modifies the association between hyperinsulinemia and serum urate levels through SLC22A12.The Journal of clinical investigation · 2025Trial
- A case of renal hypouricemia type 1 associated with compound heterozygous URAT1/SLC22A12 variants A209V and F379L: clinical evidence for their pathogenic significance.CEN case reports · 2026Article
- ABCG2 transporter: Structural and functional associations with gout (Review).International journal of molecular medicine · 2026Review
- Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.International journal of molecular sciences · 2026Review
- Glycemic burden-adjusted urinary glucose excretion deficit is associated with hyperuricemia in patients with type 2 diabetes.Frontiers in endocrinology · 2026Article
- Comprehensive gene heritability estimation reveals the genetic architecture of rare coding variants underlying complex traits.bioRxiv : the preprint server for biology · 2025Article
- Discovery of multi-target anti-gout agents from Eurycoma longifolia Jack through phenotypic screening and structural optimization.Nature communications · 2025Article
- Molecular mechanism of drug inhibition of URAT1.Nature communications · 2025Article
- Transport mechanism and structural pharmacology of human urate transporter URAT1.Cell research · 2024Article
- Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.Molecular diagnosis & therapy · 2024Article
- Pathogenic Variants ofInternational journal of molecular sciences · 2023Article
- Loss of the Kidney Urate Transporter, Urat1, Leads to Disrupted Redox Homeostasis in Mice.Antioxidants (Basel, Switzerland) · 2023Article
- The in-silico evaluation of important GLUT9 residue for uric acid transport based on renal hypouricemia type 2.Chemico-biological interactions · 2023Article
- Hypouricemia and Urate Transporters.Biomedicines · 2022Review
- Article
- Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.Kidney international reports · 2021Article
- Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.Biomedicines · 2021Article
- Evaluation of the Influence of Genetic Variants ofJournal of clinical medicine · 2020Article
- Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report.BMC nephrology · 2020Article
- Genetics of kidney stone disease.Nature reviews. Urology · 2020Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Idiopathic renal hypouricaemia is an inherited form of hypouricaemia, associated with abnormal renal handling of uric acid. There is excessive urinary wasting of uric acid resulting in hypouricaemia. Patients may be asymptomatic, but the persistent urinary abnormalities may manifest as renal stone disease, and hypouricaemia may manifest as exercise induced acute kidney injury. Here we have identified Macedonian and British patients with hypouricaemia, who presented with a variety of renal symptoms and signs including renal stone disease, hematuria, pyelonephritis and nephrocalcinosis. We have identified heterozygous missense mutations in SLC22A12 encoding the urate transporter protein URAT1 and correlate these genetic findings with functional characterization. Urate handling was determined using uptake experiments in HEK293 cells. This data highlights the importance of the URAT1 renal urate transporter in determining serum urate concentrations and the clinical phenotypes, including nephrolithiasis, that should prompt the clinician to suspect an inherited form of renal hypouricaemia.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.