Associated Papers
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Pathogenic Signal Sequence Mutations in Progranulin Disrupt SRP Interactions Required for mRNA Stability.
Pinarbasi ES et al.
Cell Reports, 2018
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
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
Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.
Di YM et al.
The Aaps Journal, 2009
A homozygous mutation in a Chinese man with Crigler-Najjar syndrome type II and a family genetic analysis.
Wu JX et al.
Journal of Digestive Diseases, 2008
Biological implications of SNPs in signal peptide domains of human proteins.
Jarjanazi H et al.
Proteins, 2008
A pharmacogenomics study of the human estrogen glucuronosyltransferase UGT1A3.
Caillier B et al.
Pharmacogenetics and Genomics, 2007
Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism.
Baudhuin LM et al.
Clinical Biochemistry, 2007
Crigler-Najjar syndrome type 2.
Huang CS et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
Six novel UDP-glucuronosyltransferase (UGT1A3) polymorphisms with varying activity.
Iwai M et al.
Journal of Human Genetics, 2004
Rapid proteasomal degradation of translocation-deficient UDP-glucuronosyltransferase 1A1 proteins in patients with Crigler-Najjar type II.
Ohnishi A et al.
Biochemical and Biophysical Research Communications, 2003
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
Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.
Sampietro M et al.
Haematologica, 1999
The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.
Mackenzie PI et al.
Pharmacogenetics, 1997
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