(Q46825406)

25 December 2017

title

Comparative genomics analysis of human sequence variation in the UGT1A gene cluster (English)

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25 December 2017

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M L Maitland

1

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25 December 2017

C Grimsley

2

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25 December 2017

H Kuttab-Boulos

3

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25 December 2017

D Witonsky

4

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25 December 2017

K E Kasza

5

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25 December 2017

L Yang

6

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25 December 2017

B A Roe

7

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25 December 2017

A Di Rienzo

8

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25 December 2017

publication date

1 January 2006

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25 December 2017

The Pharmacogenomics Journal

published in

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25 December 2017

volume

6

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25 December 2017

issue

1

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25 December 2017

page(s)

52-62

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25 December 2017

Human UDP-glucuronosyltransferases: metabolism, expression, and disease

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Nomenclature update for the mammalian UDP glycosyltransferase (UGT) gene superfamily

21 January 2018

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Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus

21 January 2018

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Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation

21 January 2018

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Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults

21 January 2018

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Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity

21 January 2018

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The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Haplotype structure of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene and its relationship to serum total bilirubin concentration in a male Korean population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

UGT1A1 variation and gallstone formation in sickle cell disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Pharmacokinetic and pharmacodynamic evaluation of the topoisomerase inhibitor irinotecan in cancer patients.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Relationship of baseline serum bilirubin to efficacy and toxicity of single-agent irinotecan in patients with metastatic colorectal cancer

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Genetic predisposition to the metabolism of irinotecan (CPT-11). Role of uridine diphosphate glucuronosyltransferase isoform 1A1 in the glucuronidation of its active metabolite (SN-38) in human liver microsomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Common human UGT1A polymorphisms and the altered metabolism of irinotecan active metabolite 7-ethyl-10-hydroxycamptothecin (SN-38).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Irinotecan dosing: does the CPT in CPT-11 stand for "Can't Predict Toxicity"?

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

A Gilbert's syndrome UGT1A1 variant confers susceptibility to tranilast-induced hyperbilirubinemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Identification of a pharmacogenetic effect by linkage disequilibrium mapping

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Evolutionary conservation predicts function of variants of the human organic cation transporter, OCT1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Natural variation in human membrane transporter genes reveals evolutionary and functional constraints

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Placental mammal diversification and the Cretaceous-Tertiary boundary

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Toward a phylogenetic classification of Primates based on DNA evidence complemented by fossil evidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

The phenobarbital response enhancer module in the human bilirubin UDP-glucuronosyltransferase UGT1A1 gene and regulation by the nuclear receptor CAR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

On the number of segregating sites in genetical models without recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Understanding human disease mutations through the use of interspecific genetic variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Characterization of single-nucleotide polymorphisms in coding regions of human genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Advances in pharmacogenomics and individualized drug therapy: exciting challenges that lie ahead

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Six novel UDP-glucuronosyltransferase (UGT1A3) polymorphisms with varying activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Accounting for human polymorphisms predicted to affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Linkage disequilibrium in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Linkage disequilibrium patterns vary substantially among populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Results of Prevention of REStenosis with Tranilast and its Outcomes (PRESTO) trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Pharmacogenetics and drug development: the path to safer and more effective drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Genetic variants in the UGT1A6 enzyme, aspirin use, and the risk of colorectal adenoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

UDP glucuronosyltransferase (UGT1A7) gene polymorphisms increase the risk of chronic pancreatitis and pancreatic cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Genetic polymorphisms in UDP-glucuronosyltransferases and glutathione S-transferases and colorectal cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Functional polymorphisms of UDP-glucuronosyltransferases 1A1, 1A6 and 1A8 are not involved in chronic pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

UDP-glucuronosyltransferase 1A7 genetic polymorphisms are associated with hepatocellular carcinoma in japanese patients with hepatitis C virus infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Tobacco carcinogen-detoxifying enzyme UGT1A7 and its association with orolaryngeal cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Whole-genome patterns of common DNA variation in three human populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

MultiPipMaker and supporting tools: Alignments and analysis of multiple genomic DNA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Estimation of linkage disequilibrium in randomly mating populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Polymorphisms of the human UDP-glucuronosyltransferase (UGT) 1A7 gene in colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Genetic link of hepatocellular carcinoma with polymorphisms of the UDP-glucuronosyltransferase UGT1A7 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Glucose-6-phosphate dehydrogenase deficiency, the UDP-glucuronosyl transferase 1A1 gene, and neonatal hyperbilirubinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

Phenotype-genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in human liver tissue with UGT1A1 promoter polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

7 January 2021

Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

7 January 2021

Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

7 January 2021

Comprehensive UGT1A1 genotyping in a Japanese population by pyrosequencing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

7 January 2021

The genetic basis of Gilbert's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

7 January 2021

Predicted homozygous mis-sense mutation in Gilbert's syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

7 January 2021

Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

7 January 2021

Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.TPJ.6500351

7 January 2021

Identifiers

DOI

10.1038/SJ.TPJ.6500351

1 reference

25 December 2017

1 reference

25 December 2017