Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.
Kim B et al.
Translational and Clinical Pharmacology, 2021
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C et al.
Human Mutation, 2015
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
Li L et al.
Plos One, 2015
Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients.
Dabke PS et al.
Hematology (amsterdam, Netherlands), 2014
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
Phenotype prediction of nonsynonymous single nucleotide polymorphisms in human phase II drug/xenobiotic metabolizing enzymes: perspectives on molecular evolution.
Hao D et al.
Science China. Life Sciences, 2010
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
Gilbert-Meulengracht's syndrome and pharmacogenetics: is jaundice just the tip of the iceberg?
Strassburg CP
Drug Metabolism Reviews, 2010
Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.
Sneitz N et al.
Human Mutation, 2010
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
Crigler-Najjar syndrome type 2.
Huang CS et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.
McConnell RS et al.
Journal of Medical Genetics, 2001
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
Required buried alpha-helical structure in the bilirubin UDP-glucuronosyltransferase, UGT1A1, contains a nonreplaceable phenylalanine.
Ciotti M et al.
Biochemistry, 1998
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.
Yamamoto K 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
Genetic defects at the UGT1 locus associated with Crigler-Najjar type I disease, including a prenatal diagnosis.
Ciotti M et al.
American Journal of Medical Genetics, 1997