Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.

Biochemical and biophysical research communications - 29 Mar 2002

Sugatani Junko, Yamakawa Kasumi, Yoshinari Kouich, Machida Takashi, Takagi Hitoshi, Mori Masatomo, Kakizaki Satoru, Sueyoshi Tatsuya, Negishi Masahiko, Miwa Masao

Abstract excerpt

The UDP-glucuronosyltransferase UGT1A1 plays a critical role in the detoxification of potentially neurotoxic bilirubin by conjugating it with glucuronic acid. We identified a polymorphism that results in a T to G substitution at nucleotide number -3263 of the phenobarbital-responsive enhancer module of the UGT1A1 gene, thereby significantly decreasing transcriptional activity as indicated by the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bilirubin
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glucuronosyltransferase

Share to Hyperbilirubinemia

Share to Pedigree

Share to Polymorphism, Single Nucleotide

Share to Promoter Regions, Genetic

Share to Transcription, Genetic

Source

Identifiers

PMID: 11906189
DOI: 10.1006/bbrc.2002.6683

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.PMID 11906189Read ↗

Function, Genetic Polymorphism, and Transcriptional Regulation of Human UDP-glucuronosyltransferase (UGT) 1A1Semantic proximity Read ↗

The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.Semantic proximity Read ↗

Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome.Semantic proximity Read ↗

Molecular pathogenesis of Gilbert's syndrome: decreased TATA-binding protein binding affinity of UGT1A1 gene promoterSemantic proximity Read ↗

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.Semantic proximity Read ↗

Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome.Semantic proximity Read ↗

[A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome].Semantic proximity Read ↗

UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: a quantitative analysis.Semantic proximity Read ↗

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.Semantic proximity Read ↗

Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene.Semantic proximity Read ↗

A polymorphic mutation, c.-3279T>G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population.Semantic proximity Read ↗

Severe neonatal hyperbilirubinemia and UGT1A1 promoter polymorphism.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.