|
Hypouricemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Furthermore, the etiology of hypouricemia may be associated with certain medications prescribed by the practicing rheumatologists, such as the following: urate-lowering drugs (allopurinol and febuxostat); recombinant uricase (pegloticase); uricosuric agents (probenecid, benzbromarone); urate transporter URAT1 inhibitor (lesinurad); angiotensin II receptor blocker (losartan); fenofibrate; high-dose trimethoprim-sulfamethoxazole; some NSAID; and high-dose salicylate therapy.
|
31650389 |
2020 |
|
Hypouricemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
Contribution of SLC22A12 on hypouricemia and its clinical significance for screening purposes.
|
31591475 |
2019 |
|
Hypouricemia
|
0.200 |
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 |
|
Hypouricemia
|
0.200 |
AlteredExpression
|
phenotype |
BEFREE |
UA transporter 1 (URAT1) encoded by SLC22A12 is expressed in the kidney and vessels and its loss of function causes hypouricemia.
|
25739858 |
2015 |
|
Hypouricemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
This case-control study was designed to analyse whether hURAT1 might also be a candidate gene for hyperuricaemia or hypouricaemia.
|
26603249 |
2015 |
|
Hypouricemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Simple and rapid detection method for the mutations in SLC22A12 that cause hypouricemia by allele-specific real-time polymerase chain reaction.
|
23148994 |
2013 |
|
Hypouricemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Two patients had heterozygous mutations of SLC22A12, and they were not accompanied by hypouricemia.
|
24107611 |
2013 |
|
Hypouricemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The net balance between renal urate absorption and secretion is a major determinant of serum uric acid concentration and loss-of-function mutations in SLC2A9 and SLC22A12 cause hereditary hypouricaemia due to reduced urate absorption and unopposed urate secretion.
|
22945592 |
2012 |
|
Hypouricemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect.
|
19926891 |
2010 |
|
Hypouricemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
The W258X and/or R90H mutations in the SLC22A12 gene are one of the major factors responsible for hypouricaemia, and one-third of the hypouricaemic subjects had one or both of the mutant alleles.
|
19019168 |
2008 |
|
Hypouricemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
No previously reported mutation of URAT1 was associated with primary renal hypouricaemia in Greek subjects.
|
17891652 |
2007 |
|
Hypouricemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Since the discovery of the human urate transporter 1 (hURAT1) gene, the number of patients diagnosed with renal hypouricaemia caused by hURAT1 gene mutation(s) has increased.
|
17362586 |
2007 |
|
Hypouricemia
|
0.200 |
GeneticVariation
|
phenotype |
BEFREE |
Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature.
|
16703794 |
2006 |
|
Hypouricemia
|
0.200 |
Biomarker
|
phenotype |
BEFREE |
SLC22A12 is a major gene for hypouricemia but not hyperuricemia in Japanese.
|
15327384 |
2004 |
|
Hypouricemia
|
0.200 |
Biomarker
|
phenotype |
HPO |
|
|
|