Associated Papers
Acute Kidney Injury and Chronic Kidney Disease Associated with a Genetic Defect: A Report of Two Cases.
Zdravkova I et al.
International Journal of Molecular Sciences, 2025
Structural basis of urate transport by glucose transporter 9.
Matsushita D et al.
Cell Reports, 2025
Structural basis of disease mutation and substrate recognition by the human SLC2A9 transporter.
Khandelwal NK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Raised CK and acute kidney injury following intense exercise in three patients with a history of exercise intolerance due to homozygous mutations in SLC2A9.
Quinlivan R et al.
Neuromuscular Disorders : Nmd, 2024
Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review.
Zhou J et al.
Bmc Nephrology, 2023
Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M).
Perdomo-Ramirez A et al.
International Journal of Molecular Sciences, 2023
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank.
Wuttke M et al.
Nature Communications, 2023
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.
Yoon J et al.
Biomedicines, 2021
Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout.
Pavelcova K et al.
Journal of Clinical Medicine, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.
Ruiz A et al.
Frontiers in Physiology, 2018
Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review.
Shen H et al.
Bmc Pediatrics, 2014
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.
Jeannin G et al.
Bmc Medical Genetics, 2014
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
Dinour D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Significant association of serum uric acid levels with SLC2A9 rs11722228 among a Japanese population.
Hamajima N et al.
Molecular Genetics and Metabolism, 2011
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.
Stiburkova B et al.
Molecular Genetics and Metabolism, 2011
Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population.
Hamajima N et al.
Bmc Medical Genetics, 2011
The protein family of glucose transport facilitators: It's not only about glucose after all.
Augustin R
Iubmb Life, 2010
Homozygous SLC2A9 mutations cause severe renal hypouricemia.
Dinour D et al.
Journal of the American Society of Nephrology : Jasn, 2010