|
Crigler Najjar syndrome, type 1
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic and biochemical criteria are required to link CN-I with mutations in UGT1.
|
7906695 |
1994 |
|
Crigler Najjar syndrome, type 1
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Crigler-Najjar syndrome type I (CN-I) is caused by an inherited absence of UDP-glucuronosyltransferase activity toward bilirubin (B-UGT), resulting in severe non-hemolytic unconjugated hyperbilirubinemia.
|
8027054 |
1994 |
|
Crigler Najjar syndrome, type 1
|
0.100 |
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
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the DNA sequence of the bilirubin UGT genes in a 5-year-old Japanese male patient with CN type II, who had consanguineous parents.
|
8280139 |
1993 |
|
Crigler Najjar syndrome, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
The total absence of all phenol/bilirubin UGT proteins and their activities in liver homogenate of a CN-1 patient was determined by enzymological and immunochemical analysis.
|
8102509 |
1993 |