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

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

Human genetics - 1 Nov 2004

Maruo Yoshihiro, D'Addario Carlos, Mori Asami, Iwai Masaru, Takahashi Hiroko, Sato Hiroshi, Takeuchi Yoshihiro

Abstract excerpt

Gilbert syndrome is a mild hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). The mutation, A(TA)7TAA, is thought to be the sole cause of the syndrome in Caucasians, but an enhancer polymorphism (T-3279G) that lowers transcriptional activity has recently been reported. We have tested the linkage of the two mutations in 11 Caucasians and 12...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Gilbert Disease

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

Share to Glucuronosyltransferase

Share to Homozygote

Share to Polymorphism, Genetic

Share to Syndrome

Share to Transcription, Genetic

Share to White People

Source

Identifiers

PMID: 15378351
DOI: 10.1007/s00439-004-1183-x

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

Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome.PMID 15378351Read ↗

Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndromeSemantic proximity Read ↗

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

Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.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 study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome].Semantic proximity Read ↗

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

Gilbert’s syndrome: High frequency of the (TA)7TAA allele in India and its interaction with a novel CAT insertion in promoter of the gene for bilirubin UDP-glucuronosyltransferase 1 geneSemantic proximity Read ↗

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

Correlation of mutational analysis to clinical features in Taiwanese patients with Gilbert's syndrome.Semantic proximity Read ↗

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

(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome.Semantic proximity Read ↗

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

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