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

scientific article (publication date: October 2000)

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z
P3181OpenCitations bibliographic resource ID4468487
P698PubMed publication ID11013440

P2093author name stringJ R Chowdhury
N R Chowdhury
G Sharma
S S Ghosh
A Kadakol
B S Sappal
P2860cites workCloning and stable expression of a new member of the human liver phenol/bilirubin: UDP-glucuronosyltransferase cDNA familyQ24310174
The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergenceQ24311466
The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): cloning, characterization, and assignment to human chromosome 4, band q26Q24318535
Functional expression of zeaxanthin glucosyltransferase from Erwinia herbicola and a proposed uridine diphosphate binding siteQ24563687
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?Q24670527
A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I.Q52216548
Chromosomal assignment of human phenol and bilirubin UDP-glucuronosyltransferase genes (UGT1A-subfamily)Q28251692
Chromosomal localization, structure, and regulation of the UGT2B17 gene, encoding a C19 steroid metabolizing enzymeQ28254205
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2Q28258092
Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type IIQ28258225
Characterization of a cloned human dihydrotestosterone/androstanediol UDP-glucuronosyltransferase and its comparison to other steroid isoformsQ28263969
Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37Q28267837
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantationQ28270302
Isolation of a human YAC contig encompassing a cluster of UGT2 genes and its regional localization to chromosome 4q13Q28306279
Two distinct mechanisms for bilirubin glucuronide transport by rat bile canalicular membrane vesicles. Demonstration of defective ATP-dependent transport in rats (TR-) with inherited conjugated hyperbilirubinemiaQ28317256
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 IQ31145683
Foreword: prospects of liver cell transplantation and liver-directed gene therapyQ33647640
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type IQ33678402
Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adultsQ34026356
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndromeQ34057969
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferaseQ34062140
Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitroQ34124730
Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.Q34384716
Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patientQ35603726
Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotideQ35620922
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferaseQ35824577
Unconjugated Bilirubin and an Increased Proportion of Bilirubin Monoconjugates in the Bile of Patients with Gilbert's Syndrome and Crigler-Najjar DiseaseQ37047879
Induction of central tolerance by intrathymic inoculation of adenoviral antigens into the host thymus permits long-term gene therapy in Gunn ratsQ37361947
Oral tolerization to adenoviral antigens permits long-term gene expression using recombinant adenoviral vectorsQ37364744
Distribution of UDPglucuronosyltransferase in rat tissueQ37686872
Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneityQ39983485
The role of the canalicular multispecific organic anion transporter in the disposal of endo- and xenobioticsQ40585888
Long term correction of bilirubin-UDP-glucuronosyltransferase deficiency in Gunn rats by administration of a recombinant adenovirus during the neonatal periodQ41157449
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.Q41182775
Carrier-mediated transport of intact UDP-glucuronic acid into the lumen of endoplasmic-reticulum-derived vesicles from rat liverQ42091520
An investigation of the transverse topology of bilirubin UDP-glucuronosyltransferase in rat hepatic endoplasmic reticulumQ42836063
Long-term reduction of serum bilirubin levels in Gunn rats by retroviral gene transfer in vivoQ45885418
Oral tolerization to adenoviral proteins permits repeated adenovirus-mediated gene therapy in rats with pre-existing immunity to adenovirusesQ45887065
Human hepatocyte transplantation: gene therapy and more?Q45889187
Short cytoplasmic sequences serve as retention signals for transmembrane proteins in the endoplasmic reticulumQ46051539
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 casesQ46740035
Required buried alpha-helical structure in the bilirubin UDP-glucuronosyltransferase, UGT1A1, contains a nonreplaceable phenylalanineQ47732343
Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I diseaseQ47928550
Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect.Q50156621
The Reciprocal Relation between Caloric Intake and the Degree of Hyperbilirubinemia in Gilbert's SyndromeQ51683925
Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome.Q52208919
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectphenotypeQ104053
P304page(s)297-306
P577publication date2000-10-01
P1433published inHuman MutationQ5937269
P1476titleGenetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype
P478volume16

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