Uric acid, the end product of purine metabolism, plays a key role in the pathogenesis of gout
and other disease processes. The circulating serum uric acid concentration is governed by …

Over the last decade, there have been major advances in the understanding of the genetic
basis of hyperuricaemia and gout as well as of the pharmacogenetics of urate-lowering …

Objectives MicroRNAs (miRNAs) are short single-stranded RNAs that play a role in the post-
transcriptional regulation of gene expression. Their deregulation can be associated with …

ATP-binding cassette subfamily G member 2 (ABCG2) is a physiologically important urate
transporter. Accumulating evidence demonstrates that congenital dysfunction of ABCG2 is …

SLC2A9 or Glut9 is a voltage sensitive urate transporter, mainly expressed in the kidneys,
the liver, and the intestine. Human Glut9 loss-of-function mutations were identified in familial …

Urate transporters, which are located in the kidneys, significantly affect the level of uric acid
in the body. We looked at genetic variants of genes encoding the major reabsorption …

Background ABCG2 is a high-capacity urate transporter that plays a crucial role in renal
urate overload and extra-renal urate underexcretion. Previous studies have suggested an …

Background Renal hypouricemia (RHUC), a rare inherited disorder characterized by
impaired uric acid (UA) reabsorption in the proximal tubule, is caused by mutations in …

The ABCG2 gene is a well-established hyperuricemia/gout risk locus encoding a urate
transporter that plays a crucial role in renal and intestinal urate excretion. Hitherto, p. Q141K …

The OAT1 (SLC22A6) and OAT3 (SLC22A8) urate transporters are located on the
basolateral membrane of the proximal renal tubules, where they ensure the uptake of uric …