|
Hypouricemia, Renal, 2
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, to the best of our knowledge, this is the first report of a RHUC2 patient with a GLUT9 mutation, p.W286X, which may be a pathogenic mutation of RHUC2.
|
31638209 |
2019 |
|
Hypouricemia, Renal, 2
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
This is the second report indicating RHUC2 patient due to GLUT9 mutation R380W.
|
24940677 |
2014 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia.
|
29486147 |
2018 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Homozygous SLC2A9 mutations cause severe renal hypouricemia.
|
19926891 |
2010 |
|
Renal hypouricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Urate transporter 1 (URAT1/SLC22A12), a urate transporter gene, is a causative gene for renal hypouricemia type 1.
|
26821810 |
2016 |
|
Renal hypouricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
The in vivo role of GLUT9 is supported by the fact that a renal hypouricemia patient without any mutations in SLC22A12 was found to have a missense mutation in SLC2A9, which reduced urate transport activity in vitro.
|
18701466 |
2008 |
|
Renal hypouricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
The currently known genes responsible for RHUC are SLC22A12 and SLC2A9.
|
31771519 |
2019 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Thus our report identifies two novel loss-of-function mutations (c.151delG in URAT1 and p.P516T in GLUT9) which cause RHUC and renal dysfunction in two independent RHUC pedigrees.
|
23043931 |
2013 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We suggest that PRES is not due to severe hypouricemia caused by SLC2A9 mutation but is a manifestation of severe EIAKI associated with renal hypouricemia.
|
23525542 |
2013 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the case of a girl with severe RHU (serum urate: 5.9 μmol/L [0.1 mg/dL]) associated with recurrent EIARF in whom the disease was caused by a compound heterozygous mutation in SLC2A9, a nonsense mutation in the paternal allele (p.G207X in exon 7), and a large duplication (c.1-2981_1204+16502) in the maternal allele detected by reverse-transcription polymerase chain reaction (PCR), semiquantitative PCR, long PCR, and direct sequencing.
|
21536615 |
2011 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.
|
21256783 |
2011 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our finding of the defects in SLC22A12 and SLC2A9 genes gives further evidence of the causative genes of primary renal hypouricemia and supports their important role in regulation of serum urate levels in humans.
|
22132965 |
2011 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Fourteen (82.4%) patients showed hypouricemia, and all of the patients with hypouricemia had either homozygous or compound heterozygous mutations in SLC22A12 or SLC2A9, which confirmed that all of them had renal hypouricemia.
|
24107611 |
2013 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).
|
22132964 |
2011 |
|
Renal hypouricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
We have previously reported that urate transporter 1 (URAT1/SLC22A12) and glucose transporter 9 (GLUT9/SLC2A9) are causative genes for renal hypouricemia type 1 (RHUC1) and renal hypouricemia type 2 (RHUC2), respectively.
|
24940677 |
2014 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, we described severe renal hypouricemia in Israeli patients with uric acid transporter GLUT9 (SLC2A9) loss-of-function mutations.
|
21148271 |
2011 |
|
Renal hypouricemia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Functional studies were performed for these novel variants and for previously reported variants p.I118HfsX27, p.G216R and p.N333S in GLUT9 responsible for renal hypouricemia in three probands from Czech Republic and United Kingdom.
|
26500098 |
2016 |
|
Renal hypouricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.
|
24397858 |
2014 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Phloretin attenuates hyperuricemia-induced endothelial dysfunction through co-inhibiting inflammation and GLUT9-mediated uric acid uptake.
|
28402018 |
2017 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Population-specific influence of SLC2A9 genotype on the acute hyperuricaemic response to a fructose load.
|
23349133 |
2013 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
G. pensylvanicum extract showed activity in reducing serum uric acid (Sur) through effect renal glucose transporter 9 (GLUT9), organic anion transporter 1 (OAT1) and urate transporter 1 (URAT1) mainly and inhibited XO activity in vivo of mice with PO induced hyperuricemia.
|
28623927 |
2017 |
|
Hyperuricemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Research on the pharmacodynamics and mechanism of Fraxini Cortex on hyperuricemia based on the regulation of URAT1 and GLUT9.
|
29990831 |
2018 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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.
|
25268603 |
2014 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The SLC2A9 mutation increases the risk for T2DM complicated HUA in Chinese population, which suggested that intron variants between two relatively conserved exons could also be associated with diseases.
|
30087870 |
2018 |
|
Hyperuricemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The multidrug ATP-binding cassette, subfamily G, 2 (ABCG2) transporter was recently identified as an important human urate transporter, and a common mutation, a Gln to Lys substitution at position 141 (Q141K), was shown to cause hyperuricemia and gout.
|
23493553 |
2013 |