|
Contact Dermatitis
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genes specifically modulated in sensitized skins allow the detection of sensitizers in a reconstructed human skin model. Development of the SENS-IS assay.
|
25724174 |
2015 |
|
Contact hypersensitivity
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Genes specifically modulated in sensitized skins allow the detection of sensitizers in a reconstructed human skin model. Development of the SENS-IS assay.
|
25724174 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.210 |
GeneticVariation
|
disease |
BEFREE |
In summary, a pedigree-based GWAS of blood-based clinical traits in the Norfolk Island population has identified variants within the UDPGT family directly associated with serum bilirubin levels, which is in turn implicated with reduced risk of developing type-2 diabetes within this population.
|
26628212 |
2015 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.210 |
Biomarker
|
disease |
RGD |
Dysregulations of intestinal and colonic UDP-glucuronosyltransferases in rats with type 2 diabetes.
|
23545594 |
2013 |
|
Gilbert Disease (disorder)
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Effect of UDP-glucuronosyltransferase 1A1 activity on risk for developing Gilbert's syndrome.
|
31017737 |
2019 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Three-dimensional polyacrylamide gel-based DNA microarray method effectively identifies UDP-glucuronosyltransferase 1A1 gene polymorphisms for the correct diagnosis of Gilbert's syndrome.
|
26781906 |
2016 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
|
26697581 |
2015 |
|
Gilbert Disease (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Although Gilbert's syndrome is usually quite benign UGT1A1(TA)n genotyping is important in exclusion of more serious causes of hyperbilirubinemia and since it has significant implications for personalised medicine.
|
24785582 |
2014 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
|
23403257 |
2013 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
UDP-glucuronosyltransferase 1A1 (UGT1A1) is the only enzyme involved in the conjugation of bilirubin and the common UGT1A1*28 allele in the UGT1A1 gene, which is strongly associated with Gilbert's syndrome in Caucasians, results in elevated plasma bilirubin levels.
|
22398043 |
2012 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most common genotype of Gilbert syndrome is the homozygous polymorphism A(TA)7TAA in the promoter of the gene for UDP-glucuronosyltransferase 1A1 (UGT1A1), which is a TA insertion into the promoter designated UGT1A1*28.
|
22160004 |
2012 |
|
Gilbert Disease (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Irinotecan's active metabolite is inactivated by UDP-glucuronosyltransferase 1A1 (UGT1A1), which is deficient in Gilbert's syndrome.
|
20177420 |
2011 |
|
Gilbert Disease (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Patients with co-existing hereditary spherocytosis (HS) and UDP-glucuronosyltransferase 1A1 (UGT1A1) deficiency as Gilbert's syndrome (GS) have been reported, and previous studies have demonstrated an increased risk for developing gallstones in patients with co-inheritance of GS and HS.
|
21319362 |
2011 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Variation of a short (TA)(n) repeat sequence (rs8175347) covering the TATA box of UGT1A1 (UDP-glucuronosyltransferase1A1) is associated with hyperbilirubinaemia (Gilbert's syndrome) and adverse drug reactions, and is used for dosage advice for irinotecan.
|
21309756 |
2011 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Now, examination of the UGT1 gene structure in hyperbilirubinemic patients has revealed more than 100 different genetic defects in Crigler-Najjar syndromes and one genetic alternation that accounts for the majority of Gilbert's syndrome cases.
|
19845429 |
2010 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Because the most common clinical condition associated with jaundice in adults is Gilbert's syndrome, which is characterized by an allelic polymorphism in the UGT1A1 promoter, hyperbilirubinemia was monitored in humanized UGT1 mice that expressed either the Gilbert's UGT1A1*28 allele [Tg(UGT1(A1*28))Ugt1(-/-) mice] or the normal UGT1A1*1 allele [Tg(UGT1(A1*1))Ugt1(-/-) mice].
|
20194756 |
2010 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Now, examination of the UGT1 gene structure in hyperbilirubinemic patients has revealed more than 100 different genetic defects in Crigler-Najjar syndromes and one genetic alternation that accounts for the majority of Gilbert's syndrome cases.
|
19845429 |
2010 |
|
Gilbert Disease (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Rapid UGT1A1 (TA)(n) genotyping by high resolution melting curve analysis for Gilbert's syndrome diagnosis.
|
19932091 |
2010 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The role of co-inheriting Gilbert's syndrome genotype was investigated studying the promoter region of the UGT1-A1 gene by automated sequencing.
|
19021734 |
2009 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The result of extreme unconjugated bilirubin in Ugt1(-/-) mice, comparable to the induced levels noted in patients with Crigler-Najjar type 1 disease, is fatal in neonatal Ugt1(-/-) mice within 2 weeks following birth.
|
18180294 |
2008 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most common genotype of Gilbert's syndrome is the homozygous polymorphism, A(TA)7TAA, in the promoter of the gene for UDP-glucuronosyltransferase 1A1 (UGT1A1), with a thymine adenine insertion in the TATA-box-like sequence, which results in a decrease in UGT1A1 activity.
|
17496722 |
2007 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
|
15712364 |
2005 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous G > A transition at the 5' splicing donor consensus sequence in intron 14 leading to exon 14 skipping (IVS14+1 G > A, DPYD*2A) with partial loss of enzyme activity may be partly responsible for 5FU induced toxicity, whereas irinotecan associated toxicity may in part be explained by an aberrant UGT1A1 promoter (TA)(n) genotype underlying Gilbert's syndrome with reduced liver glucuronidation activity.
|
15858133 |
2005 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
As individuals with HS who co-inherit Gilbert syndrome have a greater risk of developing gallstones, uridine diphosphate-glucuronyl transferase (UGT-1A) gene polymorphism was also determined.
|
14663278 |
2003 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Frequent co-occurrence of the TATA box mutation associated with Gilbert's syndrome (UGT1A1*28) with other polymorphisms of the UDP-glucuronosyltransferase-1 locus (UGT1A6*2 and UGT1A7*3) in Caucasians and Egyptians.
|
12732365 |
2003 |