The molecular physiology of uric acid homeostasis

AK Mandal, DB Mount - Annual review of physiology, 2015 - annualreviews.org
Uric acid, generated from the metabolism of purines, has proven and emerging roles in
human disease. Serum uric acid is determined by production and the net balance of …

The genetics of hyperuricaemia and gout

AM Reginato, DB Mount, I Yang, HK Choi - Nature Reviews …, 2012 - nature.com
Gout is a common and very painful inflammatory arthritis caused by hyperuricaemia. This
Review provides an update on the genetics of hyperuricaemia and gout, including findings …

Epidemiology of gout and hyperuricaemia in Italy during the years 2005–2009: a nationwide population-based study

G Trifirò, P Morabito, L Cavagna, C Ferrajolo… - Annals of the …, 2013 - ard.bmj.com
Objective To assess the epidemiology of gout and hyperuricaemia in the Italian general
population during the years 2005–2009. Methods Using the Italian primary care database …

Gout: a review of nonmodifiable and modifiable risk factors

LA MacFarlane, SC Kim - Rheumatic Disease Clinics, 2014 - rheumatic.theclinics.com
Gout is one of the most common inflammatory arthritides, caused by hyperuricemia, with an
increasing prevalence. Hyperuricemia is often a consequence of renal underexcretion of …

The gouty tophus: a review

A Chhana, N Dalbeth - Current Rheumatology Reports, 2015 - Springer
The tophus is the cardinal feature of advanced gout. This review summarises recent
research into the biology, impact and treatment of tophaceous gout. Microscopically, tophi …

Molecular pathophysiology of uric acid homeostasis

C Estiverne, AK Mandal, DB Mount - Seminars in nephrology, 2020 - Elsevier
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 …

[HTML][HTML] Human mutations in SLC2A9 (Glut9) affect transport capacity for urate

A Ruiz, I Gautschi, L Schild, O Bonny - Frontiers in physiology, 2018 - frontiersin.org
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 …

[HTML][HTML] The genetics of gout: towards personalised medicine?

N Dalbeth, LK Stamp, TR Merriman - BMC medicine, 2017 - Springer
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 …

[HTML][HTML] Urate transporters in the kidney: what clinicians need to know

S Chung, GH Kim - Electrolytes & Blood Pressure: E & BP, 2021 - ncbi.nlm.nih.gov
Urate is produced in the liver by the degradation of purines from the diet and nucleotide
turnover and excreted by the kidney and gut. The kidney is the major route of urate removal …

[HTML][HTML] Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration

B Stibůrková, M Pavlíková, J Sokolová, V Kožich - PloS one, 2014 - journals.plos.org
Objective Uric acid is the end product of purine metabolism in humans, and increased serum
uric acid concentrations lead to gout. The objective of the current study was to identify factors …