Associated Papers
Type II Crigler-Najjar syndrome: a case report and literature review.
He T et al.
Frontiers in Medicine, 2024
Mild Crigler-Najjar Syndrome with Progressive Liver Disease-A Multicenter Retrospective Cohort Study.
Junge N et al.
Children (basel, Switzerland), 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation.
Abuduxikuer K et al.
Medicine, 2018
Liver Cirrhosis in a Patient with Crigler Najjar Syndrome.
Barış Z et al.
Fetal and Pediatric Pathology, 2018
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.
Maruo Y et al.
Journal of Gastroenterology and Hepatology, 2016
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
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
Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.
Ranjan P et al.
Journal of Clinical and Experimental Hepatology, 2011
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
Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.
Di YM et al.
The Aaps Journal, 2009
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.
Maruo Y et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism.
Baudhuin LM et al.
Clinical Biochemistry, 2007
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 II caused by a homozygous triple mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.
Maruo Y et al.
Journal of Pediatric Gastroenterology and Nutrition, 2006
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
Implication of genetic variation at the promoter and exon1 of UGT1A1 in occurrence of cholelithiasis in Tunisia.
Chaouch L et al.
Annales De Biologie Clinique, 0