Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias (Q74066972)

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8 November 2019

title

Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9435989%20AND%20SRC:MED&resulttype=core&format=json

bilirubin metabolic disorder

8 November 2019

main subject

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1

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8 November 2019

Andrew J. Cassidy

4

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8 November 2019

author name string

N Moghrabi

2

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8 November 2019

G Monaghan

3

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8 November 2019

M Boxer

5

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8 November 2019

R Hume

6

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8 November 2019

B Burchell

7

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8 November 2019

publication date

1 October 1997

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8 November 2019

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8 November 2019

volume

266

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8 November 2019

issue

1

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8 November 2019

page(s)

63-74

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cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats

8 November 2019

cites work

1 reference

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

7 January 2021

1 reference

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The differential diagnosis of Crigler-Najjar disease, types 1 and 2, by bile pigment analysis

7 January 2021

1 reference

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Investigation of the substrate specificity of a cloned expressed human bilirubin UDP-glucuronosyltransferase: UDP-sugar specificity and involvement in steroid and xenobiotic glucuronidation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Predicted homozygous mis-sense mutation in Gilbert's syndrome

7 January 2021

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

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

7 January 2021

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The genetic basis of Gilbert's syndrome

7 January 2021

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Genetic inheritance of Gilbert's syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait

7 January 2021

1 reference

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Ethanol increases liver uridine-diphosphate-glucuronyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

Regulation of the human bilirubin UDP-glucuronosyltransferase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

UGT1*1 genotyping in a Canadian Inuit population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-8981%2897%2900167-8

10.1016/S0009-8981(97)00167-8

7 January 2021

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9435989%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

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