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
Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.
Kawamoto R et al.
Journal of Nephrology, 2025
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Annual change in eGFR in renal hypouricemia: a retrospective pilot study.
Sugihara S et al.
Clinical and Experimental Nephrology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Genetic Rare Variants Affecting Multiple Pathways in Japanese Patients with Palindromic Rheumatism.
Kawara T et al.
The Kobe Journal of Medical Sciences, 2024
Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.
Mou L et al.
Molecular Diagnosis & Therapy, 2024
[Uric Acid Metabolism, Uric Acid Transporters and Dysuricemia].
Ichida K
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 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
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.
Choi J et al.
Science Advances, 2023
Characterization of Urate Metabolism and Complications of Patients with Renal Hypouricemia.
Miyazaki S et al.
Internal Medicine (tokyo, Japan), 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
Impact of Hyper- and Hypo-Uricemia on Kidney Function.
Miake J et al.
Biomedicines, 2023
Altered Serum Uric Acid Levels in Kidney Disorders.
Kim GH et al.
Life (basel, Switzerland), 2022
Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia.
Hakoda M et al.
Biomedicines, 2022
Renal hypouricemia in a recipient of living-donor kidney transplantation: a case report and literature review.
Miyauchi T et al.
Cen Case Reports, 2022
Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
Nakayama A et al.
Rheumatology (oxford, England), 2022
Hereditary renal hypouricemia with SLC22A12 mutation: A case report.
Yim J et al.
Pediatrics and Neonatology, 2022
Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.
Choe EK et al.
Scientific Reports, 2022
Emerging Roles of the Human Solute Carrier 22 Family.
Yee SW et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2021
Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
Toyoda Y et al.
Rheumatology (oxford, England), 2021
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.
Stiburkova B et al.
Biomedicines, 2021
The impact of an URAT1 polymorphism on the losartan treatment of hypertension and hyperuricemia.
Wu L et al.
Journal of Clinical Laboratory Analysis, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.
Yoon J et al.
Biomedicines, 2021
A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals.
Kawamura Y et al.
Biomedicines, 2021
Urate Transporters in the Kidney: What Clinicians Need to Know.
Chung S et al.
Electrolyte & Blood Pressure : E & Bp, 2021
Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.
Kawamura Y et al.
Rheumatology (oxford, England), 2020
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
Polygenic analysis of the effect of common and low-frequency genetic variants on serum uric acid levels in Korean individuals.
Cho SK et al.
Scientific Reports, 2020
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
Sekiya M et al.
Bmc Medical Genetics, 2020
Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels.
Misawa K et al.
Genetics, 2020
Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation.
Teng L et al.
Annals of Translational Medicine, 2020
Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels.
Higashino T et al.
Annals of the Rheumatic Diseases, 2020
A population-specific low-frequency variant of SLC22A12 (p.W258*) explains nearby genome-wide association signals for serum uric acid concentrations among Koreans.
Im SW et al.
Plos One, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report.
Furuto Y et al.
Bmc Nephrology, 2019
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.
Cha DH et al.
Scientific Reports, 2019
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J et al.
Physiological Reviews, 2019
Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.
Zhou Z et al.
Molecular Genetics & Genomic Medicine, 2019
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018