Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype
about
Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vectorPharmGKB summary: very important pharmacogene information for UGT1A1Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of functionUGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancerInduction of bilirubin clearance by the constitutive androstane receptor (CAR)Inherited disorders of bilirubin clearanceClinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir PrescribingNew insights in bilirubin metabolism and their clinical implicationsThe role of transporters in toxicity and diseaseAssociation study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjectsGeneration of Ugt1-deficient murine liver cell lines using TALEN technologySpectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type IIGenetic variations and haplotype diversity of the UGT1 gene cluster in the Chinese populationEarly complication in sickle cell anemia children due to A(TA)nTAA polymorphism at the promoter of UGT1A1 geneRescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transferAdaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymesCharacteristics of the heme catabolic pathway in mild unconjugated hyperbilirubinemia and their associations with inflammation and disease preventionModulation of Mrp1 (ABCc1) and Pgp (ABCb1) by bilirubin at the blood-CSF and blood-brain barriers in the Gunn rat.Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.Bilirubin uridine diphosphate-glucuronosyltransferase variation is a genetic basis of breast milk jaundice.Bilirubin glucuronidation revisited: proper assay conditions to estimate enzyme kinetics with recombinant UGT1A1.Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilbert's syndromeCorrelation between bilirubin glucuronidation and estradiol-3-gluronidation in the presence of model UDP-glucuronosyltransferase 1A1 substrates/inhibitors.Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type IIPharmacogenomics of human UDP-glucuronosyltransferase enzymes.Quantification of human uridine-diphosphate glucuronosyl transferase 1A isoforms in liver, intestine, and kidney using nanobore liquid chromatography-tandem mass spectrometry.Association of Neonatal Hyperbilirubinemia with UGT1A1 Gene Polymorphisms: A Meta-Analysis.Serum bilirubin concentration is modified by UGT1A1 haplotypes and influences risk of type-2 diabetes in the Norfolk Island genetic isolate.Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.Transport and metabolism at blood-brain interfaces and in neural cells: relevance to bilirubin-induced encephalopathy.Pharmacokinetics and pharmacodynamics of orally administered acetylenic tricyclic bis(cyanoenone), a highly potent Nrf2 activator with a reversible covalent mode of action.RNA-sequencing quantification of hepatic ontogeny and tissue distribution of mRNAs of phase II enzymes in mice.Stem cell therapy for inherited metabolic disorders of the liver.Management of pregnancy in Crigler Najjar syndrome type 2.A systems approach implicates nuclear receptor targeting in the Atp7b(-/-) mouse model of Wilson's disease.PhRMA white paper on ADME pharmacogenomics.A translationally optimized AAV-UGT1A1 vector drives safe and long-lasting correction of Crigler-Najjar syndrome.Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.UGT1A1 gene polymorphism: impact on toxicity and efficacy of irinotecan-based regimens in metastatic colorectal cancer.Developmental onset of bilirubin-induced neurotoxicity involves Toll-like receptor 2-dependent signaling in humanized UDP-glucuronosyltransferase1 mice.
P2860
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P2860
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype
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2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
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2000年論文
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2000年论文
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name
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@ast
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@en
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@nl
type
label
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@ast
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@en
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@nl
prefLabel
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@ast
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@en
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@nl
P2093
P2860
P3181
P1433
P1476
Genetic lesions of bilirubin u ...... ation of genotype to phenotype
@en
P2093
B S Sappal
J R Chowdhury
N R Chowdhury
P2860
P304
P3181
P356
10.1002/1098-1004(200010)16:4<297::AID-HUMU2>3.0.CO;2-Z
P407
P577
2000-10-01T00:00:00Z