|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Genome-wide association scans for genes regulating serum urate concentrations have identified two major regulators of hyperuricaemia- the renal urate transporters SLC2A9 and ABCG2.
|
20472486 |
2011 |
|
Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Effects of Chicory on Serum Uric Acid, Renal Function, and GLUT9 Expression in Hyperuricaemic Rats with Renal Injury and <i>In Vitro</i> Verification with Cells.
|
30622589 |
2018 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
In hyperuricemic rats, high EU (400 mg/kg) significantly reduced SUA levels to 253.85 μmol/L, and increased OAT1 and OAT3 levels, but decreased URAT1 and GLUT9, compared to the hyperuricaemia group (p < 0.05).
|
30843748 |
2019 |
|
Hyperuricemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Moreover, we found the significant decrease in protein expression of URAT1 and GLUT9, and the significant increase in protein expression of OAT1 in the kidney in AFPR treated groups compared to the model groups of hyperuricemia.
|
29490297 |
2018 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
However, compared to the hyperuricemia control, OAT1 was elevated remarkably in mice drugged with GAE and GAW, while GLUT9 was significantly decreased.
|
29379442 |
2017 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Type 2 renal hyperuricemia (RHUC2) is caused by a mutation in the SLC2A9 gene, which encodes a high‑capacity glucose and urate transporter, glucose transporter (GLUT)9.
|
31638209 |
2019 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
For rare variants, six single nucleotide variations (SNVs) p.T21I and p.G13D in SLC2A9, p.W50fs, p.Q382L, p.V547L and p.E458K in SLC22A12, occurred in totally six hypouricemia subjects and were absent in HUA and normal controls.
|
31131560 |
2019 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results highlight a possible role of sex hormones in the regulation of ABCG2 urate transporter and its potential implications for the prevention, diagnosis, and treatment of hyperuricemia and gout.
|
23552988 |
2013 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
CLA ameliorates hyperuricemia along with insulin resistance and renal inflammatory, which may be associated with the suppression of renal GLUT9 and URAT1 in fructose-fed rats.
|
30913372 |
2019 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Systematic analysis of Glut9 mutants confirms Glut9 as putative target for the treatment of hyperuricemia and brings new insights in Glut9 structure - function.
|
29967582 |
2018 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Furthermore, phloretin partly inhibited renal glucose transporter 9 (GLUT9) and promoted urinary UA excretion in HUA mice.
|
31790902 |
2020 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two important pathways determining hyperuricemia have been confirmed (renal and gut excretion of uric acid with glycolysis now firmly implicated).Major urate loci are SLC2A9 and ABCG2.
|
25889045 |
2015 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we set to investigate whether the exon 9 of SLC2A9 gene variations is associated with HUA complicated with Type 2 DM (T2DM) in the Chinese male Han population.
|
25476142 |
2015 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The polymorphism rs6855911 in SLC2A9 may be a genetic marker to assess risk of hyperuricemia among Chinese male Han population.
|
20972595 |
2011 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In turn, some of these single nucleotide polymorphisms in SLC2A9 may increase the risk of hyperuricemia.
|
31016517 |
2019 |
|
Hypouricemia
|
0.180 |
GeneticVariation
|
phenotype |
BEFREE |
The renal hypouricemia type 1 (OMIM 220150) is characterized by loss-of-function mutations in the SLC22A12 gene which encodes URAT 1 transporter, and the hypouricemia type 2 (OMIM 612076) is caused by defects in the SLC2A9 gene.
|
30704753 |
2020 |
|
Hypouricemia
|
0.180 |
GeneticVariation
|
phenotype |
BEFREE |
With the large health-examination database of the Japan Maritime Self-Defense Force, we found two missense mutations (R198C and R380W) of GLUT9/SLC2A9 in hypouricemia patients.
|
22132964 |
2011 |
|
Hypouricemia
|
0.180 |
GeneticVariation
|
phenotype |
BEFREE |
Our findings indicate that even a nonsense mutation responsible for the heterozygous status of SLC2A9 did not cause severe hypouricemia, and they lend support to previous speculation that mutations of both SLC2A9 alleles cause severe hypouricemia.
|
21536615 |
2011 |
|
Hypouricemia
|
0.180 |
GeneticVariation
|
phenotype |
BEFREE |
Human Glut9 loss-of-function mutations were identified in familial hypouricemia, and several single nucleotide polymorphisms (SNPs) were associated with lower serum urate, further indicating that Glut9 is a major determinant of serum uric acid level.
|
29967582 |
2018 |
|
Hypouricemia
|
0.180 |
GeneticVariation
|
phenotype |
BEFREE |
Mutational screening of the SLC2A9 gene is necessary for the diagnosis of iRHUC, and homozygous mutations of the SLC2A9 alleles can cause severe hypouricemia.
|
24628802 |
2014 |
|
Hypouricemia
|
0.180 |
GeneticVariation
|
phenotype |
BEFREE |
A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.
|
27116386 |
2016 |
|
Hypouricemia
|
0.180 |
GeneticVariation
|
phenotype |
BEFREE |
We performed mutational analyses of GLUT9 exon 6 (for R198C) and exon 10 (for R380W) in 50 Japanese hypouricemia patients.
|
24940677 |
2014 |
|
Hypouricemia
|
0.180 |
GeneticVariation
|
phenotype |
BEFREE |
Allelic and genotypic frequency distributions of the six SNVs differed significantly between the hypouricemia and normal controls even after multiple testing correction, and p.G13D in SLC2A9 and p.V547L in SLC22A12 were newly reported.
|
31131560 |
2019 |
|
Arthritis, Gouty
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of ABCG2 and SLC2A9 gene polymorphisms in gouty arthritis in a Korean population.
|
26552468 |
2015 |
|
Arthritis, Gouty
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Associations of a non-synonymous variant in SLC2A9 with gouty arthritis and uric acid levels in Han Chinese subjects and Solomon Islanders.
|
19723617 |
2010 |