Associated Papers
Kernicterus caused by a rare genetic variant of Crigler-Najjar Syndrome (c.826G>C).
Agarwal S et al.
Indian Journal of Pediatrics, 2024
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.
Kim B et al.
Translational and Clinical Pharmacology, 2021
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults.
Kumar P et al.
Journal of Clinical and Diagnostic Research : Jcdr, 2017
Allele and genotype frequencies of genes relevant to anti-epileptic drug therapy in Mexican-Mestizo healthy volunteers.
Fricke-Galindo I et al.
Pharmacogenomics, 2016
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C et al.
Human Mutation, 2015
UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.
Skierka JM et al.
The Journal of Pediatrics, 2013
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
Canu G et al.
Blood Cells, Molecules & Diseases, 2013
Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.
Galehdari H et al.
International Journal of Molecular Epidemiology and Genetics, 2013
Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.
Rahim F et al.
Genetics Research International, 2013
A molecular model of the human UDP-glucuronosyltransferase 1A1, its membrane orientation, and the interactions between different parts of the enzyme.
Laakkonen L et al.
Molecular Pharmacology, 2010
Takashi Iyanagi: UGT1 gene complex: from Gunn rat to human.
Ikushiro S
Drug Metabolism Reviews, 2010
Gilbert-Meulengracht's syndrome and pharmacogenetics: is jaundice just the tip of the iceberg?
Strassburg CP
Drug Metabolism Reviews, 2010
Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.
Di YM et al.
The Aaps Journal, 2009
Family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A): from Gilbert's syndrome to genetic organization and variability.
Strassburg CP et al.
Archives of Toxicology, 2008
Variability and function of family 1 uridine-5'-diphosphate glucuronosyltransferases (UGT1A).
Strassburg CP et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes.
Li C et al.
Bmc Evolutionary Biology, 2007
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
Kadakol A et al.
Human Mutation, 2000
Biochemical and molecular aspects of genetic disorders of bilirubin metabolism.
Iyanagi T et al.
Biochimica Et Biophysica Acta, 1998
The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.
Mackenzie PI et al.
Pharmacogenetics, 1997
Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient.
Ciotti M et al.
The Journal of Biological Chemistry, 1995