Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 2025
Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.
Hao C et al.
Communications Medicine, 2025
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
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Annual change in eGFR in renal hypouricemia: a retrospective pilot study.
Sugihara S et al.
Clinical and Experimental Nephrology, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Donor-Derived Hereditary Renal Hypouricemia.
Sulaiman S et al.
Kidney International Reports, 2024
Genotype and Phenotype of Renal Hypouricemia: A Single-Center Study from China.
Mou L et al.
Molecular Diagnosis & Therapy, 2024
Renal hypouricemia complicated with kidney stone: a case report.
Yang Y et al.
Frontiers in Medicine, 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
Characterization of Urate Metabolism and Complications of Patients with Renal Hypouricemia.
Miyazaki S et al.
Internal Medicine (tokyo, Japan), 2023
Impact of Hyper- and Hypo-Uricemia on Kidney Function.
Miake J et al.
Biomedicines, 2023
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
Genetic Basis of the Epidemiological Features and Clinical Significance of Renal Hypouricemia.
Hakoda M et al.
Biomedicines, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk.
Fu R et al.
Translational Lung Cancer Research, 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
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
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
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
Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report.
Tsuji K et al.
Bmc Nephrology, 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
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
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
Vidanapathirana DM et al.
Bmc Pediatrics, 2018
An update on the genetics of hyperuricaemia and gout.
Major TJ et al.
Nature Reviews. Rheumatology, 2018
Genetic Heterogeneity of SLC22 Family of Transporters in Drug Disposition.
Lozano E et al.
Journal of Personalized Medicine, 2018
Acute kidney injury due to rotavirus gastroenteritis-associated obstructive uric acid stones in a Japanese infant harboring a heterozygous W258X mutation.
Fujinaga S et al.
Pediatric Nephrology (berlin, Germany), 2016
Prevalence of URAT1 allelic variants in the Roma population.
Stiburkova B et al.
Nucleosides, Nucleotides & Nucleic Acids, 2016
The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.
Sakiyama M et al.
Scientific Reports, 2016