Associated Papers
Renal Hypouricemia Type 2 due to a Novel Homozygous SLC2A9 Variant: Exercise-Induced Acute Kidney Injury in One of Two Affected Siblings.
Pezantes I et al.
Nephrology (carlton, Vic.), 2026
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
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Structural basis for urate recognition and apigenin inhibition of human GLUT9.
Shen Z et al.
Nature Communications, 2024
Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review.
Zhou J et al.
Bmc Nephrology, 2023
New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions.
Perdomo-Ramírez A et al.
Genes, 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
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
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression.
Peces R et al.
Clinical Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
Claverie-Martin F et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
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