|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Multi-exon deletion in the XDH gene as a cause of classical xanthinuria.
|
23249873 |
2013 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
In this report, a case of xanthinuria type I with mutations of XDH was identified and characterized by expression studies.
|
22981351 |
2012 |
|
Xanthinuria, Type I
|
0.760 |
Biomarker
|
disease |
BEFREE |
Type I xanthinuria involves XOR deficiency due to genetic defect of XOR, whereas type II xanthinuria involves dual deficiency of XOR and aldehyde oxidase (AO, a molybdoflavo enzyme similar to XOR) due to genetic defect in the molybdenum cofactor sulfurase.
|
23203137 |
2012 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria.
|
14551354 |
2003 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
In a Turkish family, we identified a novel point mutation in the XDH gene responsible for classical type I xanthinuria.
|
14551354 |
2003 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.
|
11379872 |
2001 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I xanthinuria.
|
11379872 |
2001 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
These results reinforce the notion that mutations in the XDH gene are the underlying cause of classical xanthinuria type I.
|
10844591 |
2000 |
|
Xanthinuria, Type I
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities.
|
9153281 |
1997 |
|
Xanthinuria, Type I
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities.
|
9153281 |
1997 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Classical xanthinuria type I lacks only xanthine dehydrogenase activity, while type II and molybdenum cofactor deficiency also lack one or two additional enzyme activities.
|
9153281 |
1997 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria.
|
9153281 |
1997 |
|
Xanthinuria, Type I
|
0.760 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Xanthinuria, Type I
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Xanthinuria, Type I
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Hyperuricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Topiroxostat is a selective xanthine oxidoreductase (XOR) inhibitor for the management of hyperuricemia in patients with or without gout.
|
31733581 |
2020 |
|
Hyperuricemia
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Plasma XOR activity has been shown to be associated with obesity, smoking, liver dysfunction, hyperuricemia, dyslipidemia and insulin resistance.
|
30516339 |
2019 |
|
Hyperuricemia
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
These data demonstrate that hepatocyte XOR activity is a critical determinant of systemic UA homeostasis, that deletion of hepatocyte <i>Xdh</i> is sufficient to prevent systemic HyUA of obesity, and that neither prevention nor correction of HyUA improves insulin resistance/dyslipidemia in obesity.
|
30936145 |
2019 |
|
Hyperuricemia
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Xanthine oxidase (XO) is a form of xanthine oxidoreductase, a type of enzyme that plays a key role in the induction of hyperuricemia and raising superoxide radical level in blood.
|
31639647 |
2019 |
|
Hyperuricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Despite the availability of different drugs to inhibit in vivo XOR activity, the complexity of XOR inhibition effects should be carefully considered before clinical application, save in the case of symptomatic hyperuricemia.
|
30576922 |
2019 |
|
Hyperuricemia
|
0.600 |
Biomarker
|
disease |
CTD_human |
Potential cow milk xanthine oxidase inhibitory and antioxidant activity of selected phenolic acid derivatives.
|
29071757 |
2018 |
|
Hyperuricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Human Xanthine oxidoreductase (HsXOR) is considered to be a pharmacological target for the treatment of hyperuricemia.
|
29906649 |
2018 |
|
Hyperuricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
The Excited-UA study would provide novel evidence for the clinical relevancy of xanthine oxidoreductase inhibitor treatment in patients with chronic heart failure and hyperuricemia.
|
29916098 |
2018 |
|
Hyperuricemia
|
0.600 |
Biomarker
|
disease |
BEFREE |
We attempted to examine the uric acid-lowering effect and the renoprotective effect of topiroxostat, a selective xanthine oxidoreductase inhibitor, in patients with diabetic nephropathy and hyperuricemia in this pilot study.
|
29372470 |
2018 |
|
Hyperuricemia
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
ALLO can significantly decrease serum uric acid levels (P<0.01) and raise XDH/XO mRNA expression levels in the liver tissue of tree shrews with HUA.
|
28302963 |
2017 |