ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload

A common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility

(2013) Akiyoshi Nakayama et al.   Human Cell

Common dysfunctional variants in ABCG2 are a major cause of early-onset gout

(2013) Hirotaka Matsuo et al.   Scientific Reports

Decreased extra-renal urate excretion is a common cause of hyperuricemia

(2012) Kimiyoshi Ichida et al.   Nature Communications

Genome-wide association study of hematological and biochemical traits in a Japanese population

(2010) Yoichiro Kamatani et al.   NATURE GENETICS

Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

(2009) D. Dinour et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout

(2009) O. M. Woodward et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Common Defects of ABCG2, a High-Capacity Urate Exporter, Cause Gout: A Function-Based Genetic Analysis in a Japanese Population

(2009) H. Matsuo et al.   Science Translational Medicine

Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations

(2009) Melanie Kolz et al.   PLoS Genetics

Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia

(2008) Hirotaka Matsuo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rapid Diagnosis of MEN2B Using Unlabeled Probe Melting Analysis and the LightCycler 480 Instrument

(2008) Rebecca L. Margraf et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The breast cancer resistance protein transporter ABCG2 is expressed in the human kidney proximal tubule apical membrane

(2007) M. Huls et al.   KIDNEY INTERNATIONAL