|
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 |
|
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 |
|
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 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
As an initial step to correct the genetic defect in Crigler-Najjar type I, recombinant retroviruses were used to transduce an HUG Br1 gene into hepatocytes of a rat model of CN-I and CN-I fibroblasts.
|
7614251 |
1995 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic and biochemical criteria are required to link CN-I with mutations in UGT1.
|
7906695 |
1994 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study reports the molecular characterisation of the bilirubin UDP-glucuronosyl-transferase gene (UGT1) in a group of patients of Sardinian descent with Crigler-Najjar syndrome type I and their relatives.
|
9039987 |
1997 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
As we had previously shown that CN-I was, in Tunisia, associated with homozygosity for the Q357R mutation within the UGT1 gene, we were able to detect this mutation in both families and to show that it was easily recognized by single-strand conformation polymorphism (SSCP) analysis.
|
12378576 |
2002 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
Biomarker
|
disease |
BEFREE |
A rat model for Crigler-Najjar syndrome type I deficient in HUG Br1 (ie the Gunn rat) was injected with 5 X 10(9) plaque-forming units (p.f.u.) via the portal vein of either H5.010CMVhugBr1 or H5.010CMVlacZ.
|
9156798 |
1996 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Lesions in the gene encoding bilirubin-UGT(1), lead to complete or partial inactivation of the enzyme causing the rare autosomal recessively inherited conditions, Crigler-Najjar syndrome type-1 (CN-1) and type 2 (CN-2), respectively.
|
11013440 |
2000 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).
|
7989045 |
1994 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most severe syndrome, termed Crigler-Najjar syndrome type I, is mainly associated with mutations in exons 2 to 5 that affect all UGT1 enzymes and many of the mutations result in termination codons and frameshifts.
|
9435989 |
1997 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Crigler Najjar syndrome, type 1
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.
|
11182932 |
2000 |
|
Gilbert Disease (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The role of Gilbert's syndrome (GS) in neonatal hyperbilirubinemia, characterized by bilirubin levels higher than 223 microMol/L during the first seven days of life, has been investigated, evaluating the frequency of GS genotype (A(TA)7TAA polymorphism in the promoter of the gene encoding UGT1).
|
12012638 |
2002 |
|
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 |
CLINVAR |
|
|
|
|
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 |
|
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 |
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 |
Five beta-thalassaemia heterozygotes, who were homozygous for the extra (TA) bases in the A(TA)nTAA element of the promoter of UGT-1A, the configuration present in homozygosity in Gilbert's syndrome, had higher bilirubin levels compared to those with the (TA)6/(TA)7 or (TA)6/(TA)6 configurations.
|
9375768 |
1997 |