Correlation of mutational analysis to clinical features in taiwanese patients with gilbert's syndrome

American Journal of Gastroenterology

Volumn 96, Issue 4, 2001, Pages 1188-1193

  Hsieh, S Y ^a   Wu, Y H ^b   Lin, D Y ^b   Chu, C M ^b   Wu, M ^b   Liaw, Y F ^b  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GENE MUTATION; GENETIC ANALYSIS; GILBERT DISEASE; HUMAN; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TAIWAN; TATA BOX;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; GILBERT DISEASE; GLUCURONOSYLTRANSFERASE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TAIWAN; TATA BOX;

EID: 0035053747     PISSN: 00029270     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9270(01)02262-6     Document Type: Article

References (42)

1. Sequence of exon and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a person with Crigler-Najjar syndrome, type I
2. A novel complex locus UGT1 encodes human bilirubin, phenol and other UDP-glucuronosyltransferase isoenzymes with identical carboxyl termini
3. Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-hemolytic unconjugated hyperbilirubinemias
4. Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in Cos-1 cells
5. Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronosyltransferase isoform in man
6. The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: Implication for multiple nonhemolytic familial hyperbilirubinemia phenotypes
7. Does Gilbert's syndrome exist?
8. Pathogenesis of Gilbert's syndrome
9. Decreased glucuronidation and increased bioactivation of acetaminophen in Gilbert's syndrome
10. Bilirubin glucuronide formation in vitro: Demonstration of a defect in Gilbert's syndrome
11. Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome): A study of 42 families
12. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyltrasferase deficiency: Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity
13. Hepatic bilirubin UDP-glucuronyl transferase activity in liver disease and Gilbert's syndrome
14. New genetics of inheritable jaundice and cholestatic liver disease
15. Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I
16. Identification of a genetic alteration in the code for bilirubin UDP-glucuronosltrasferase in the UGT1 gene complex of a Crigler-Najjar type I patient
17. Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: Implication in carrier detection and prenatal diagnosis
18. A phenylanaline codon deletion at the UGT1 gene complex locus of a Crigler-Najjar syndrome type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase
19. Heme and bile pigment metabolism
20. Genetic heterogeneity of Crigler-Najjar syndrome type I: A study of 14 cases
21. Identification of the two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro
22. A mutation in bilirubin uridine 5′-diphosphate-glucurononsyltransferse isoform I causing Crigler-Najjar syndrome type II
23. Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2
24. Discrimination between Crigler-Najjar syndrome type I, and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase
25. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
26. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome
27. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: A balanced polymorphism for regulation of bilirubin metabolism?
28. Gilbert's syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene
29. The UGT1A1*28 allele is relatively rare in a Japanese population
30. Molecular genetic basis of Gilbert's syndrome
31. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome
32. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
33. Predicted homozygous missense mutation in Gilbert's syndrome
34. The genetic basis of Gilbert's syndrome
35. A preserved leukocyte preparation for quality control
36. High prevalence of TT virus infection in healthy children and adults and in patients with liver disease in Taiwan
37. Cloning and characterization of the extreme 5′-terminal sequences of the RNA genome of GB virus C/hepatitis G virus
38. TATA-box promoter mutant in the promoter of UDP-glucuronosyltransferase 1 gene in Italian patients with Gilbert's syndrome
39. UDP-glucuronosyltransferase (UGT1A1*28, and UGT1A6*2) polymorphism in Caucasians, and Asians: Relationship to serum bilirubin concentrations
40. Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene: A common missense mutation among Japanese, Korean and Chinese
41. Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDPglucuronosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler Najjar syndrome type II