Associated Papers
Structural basis of urate transport by glucose transporter 9.
Matsushita D et al.
Cell Reports, 2025
APF2: an improved ensemble method for pharmacogenomic variant effect prediction.
Zhou Y et al.
The Pharmacogenomics Journal, 2024
38802404 (PubMed )
Supplement: 41397_2024_338_MOESM2_ESM.xlsx › Sheet1
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout.
Vávra J et al.
Disease Markers, 2024
Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.
Stiburkova B 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
Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.
Zhou Z et al.
Molecular Genetics & Genomic Medicine, 2019
An optimized prediction framework to assess the functional impact of pharmacogenetic variants.
Zhou Y et al.
The Pharmacogenomics Journal, 2019
30206299 (PubMed )
Supplement: 41397_2018_44_MOESM5_ESM.xlsx › Sheet1
The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients.
Stiburkova B et al.
Arthritis Research & Therapy, 2019
A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
Vidanapathirana DM et al.
Bmc Pediatrics, 2018
Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.
Ruiz A et al.
Frontiers in Physiology, 2018
Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.
Mancikova A et al.
Clinical and Experimental Nephrology, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0EM-01A.domain
Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.
Hurba O et al.
Plos One, 2014
Acute kidney injury in two children caused by renal hypouricaemia type 2.
Stiburkova B et al.
Pediatric Nephrology (berlin, Germany), 2012
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.
Kaneko H et al.
Human Genetics, 2011
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
Vitart V et al.
Nature Genetics, 2008
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