review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | J R Chowdhury | |
N R Chowdhury | |||
G Sharma | |||
S S Ghosh | |||
A Kadakol | |||
B S Sappal | |||
P2860 | cites work | Cloning and stable expression of a new member of the human liver phenol/bilirubin: UDP-glucuronosyltransferase cDNA family | Q24310174 |
The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence | Q24311466 | ||
The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): cloning, characterization, and assignment to human chromosome 4, band q26 | Q24318535 | ||
Functional expression of zeaxanthin glucosyltransferase from Erwinia herbicola and a proposed uridine diphosphate binding site | Q24563687 | ||
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? | Q24670527 | ||
A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. | Q52216548 | ||
Chromosomal assignment of human phenol and bilirubin UDP-glucuronosyltransferase genes (UGT1A-subfamily) | Q28251692 | ||
Chromosomal localization, structure, and regulation of the UGT2B17 gene, encoding a C19 steroid metabolizing enzyme | Q28254205 | ||
Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2 | Q28258092 | ||
Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II | Q28258225 | ||
Characterization of a cloned human dihydrotestosterone/androstanediol UDP-glucuronosyltransferase and its comparison to other steroid isoforms | Q28263969 | ||
Assignment of the human UDP glucuronosyltransferase gene (UGT1A1) to chromosome region 2q37 | Q28267837 | ||
Treatment of the Crigler-Najjar syndrome type I with hepatocyte transplantation | Q28270302 | ||
Isolation of a human YAC contig encompassing a cluster of UGT2 genes and its regional localization to chromosome 4q13 | Q28306279 | ||
Two distinct mechanisms for bilirubin glucuronide transport by rat bile canalicular membrane vesicles. Demonstration of defective ATP-dependent transport in rats (TR-) with inherited conjugated hyperbilirubinemia | Q28317256 | ||
Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I | Q31145683 | ||
Foreword: prospects of liver cell transplantation and liver-directed gene therapy | Q33647640 | ||
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I | Q33678402 | ||
Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults | Q34026356 | ||
The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome | Q34057969 | ||
Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase | Q34062140 | ||
Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro | Q34124730 | ||
Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1. | Q34384716 | ||
Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient | Q35603726 | ||
Correction of the UDP-glucuronosyltransferase gene defect in the gunn rat model of crigler-najjar syndrome type I with a chimeric oligonucleotide | Q35620922 | ||
Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase | Q35824577 | ||
Unconjugated Bilirubin and an Increased Proportion of Bilirubin Monoconjugates in the Bile of Patients with Gilbert's Syndrome and Crigler-Najjar Disease | Q37047879 | ||
Induction of central tolerance by intrathymic inoculation of adenoviral antigens into the host thymus permits long-term gene therapy in Gunn rats | Q37361947 | ||
Oral tolerization to adenoviral antigens permits long-term gene expression using recombinant adenoviral vectors | Q37364744 | ||
Distribution of UDPglucuronosyltransferase in rat tissue | Q37686872 | ||
Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity | Q39983485 | ||
The role of the canalicular multispecific organic anion transporter in the disposal of endo- and xenobiotics | Q40585888 | ||
Long term correction of bilirubin-UDP-glucuronosyltransferase deficiency in Gunn rats by administration of a recombinant adenovirus during the neonatal period | Q41157449 | ||
A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II. | Q41182775 | ||
Carrier-mediated transport of intact UDP-glucuronic acid into the lumen of endoplasmic-reticulum-derived vesicles from rat liver | Q42091520 | ||
An investigation of the transverse topology of bilirubin UDP-glucuronosyltransferase in rat hepatic endoplasmic reticulum | Q42836063 | ||
Long-term reduction of serum bilirubin levels in Gunn rats by retroviral gene transfer in vivo | Q45885418 | ||
Oral tolerization to adenoviral proteins permits repeated adenovirus-mediated gene therapy in rats with pre-existing immunity to adenoviruses | Q45887065 | ||
Human hepatocyte transplantation: gene therapy and more? | Q45889187 | ||
Short cytoplasmic sequences serve as retention signals for transmembrane proteins in the endoplasmic reticulum | Q46051539 | ||
Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases | Q46740035 | ||
Required buried alpha-helical structure in the bilirubin UDP-glucuronosyltransferase, UGT1A1, contains a nonreplaceable phenylalanine | Q47732343 | ||
Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease | Q47928550 | ||
Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert-type genetic defect. | Q50156621 | ||
The Reciprocal Relation between Caloric Intake and the Degree of Hyperbilirubinemia in Gilbert's Syndrome | Q51683925 | ||
Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. | Q52208919 | ||
P433 | issue | 4 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | phenotype | Q104053 |
P304 | page(s) | 297-306 | |
P577 | publication date | 2000-10-01 | |
P1433 | published in | Human Mutation | Q5937269 |
P1476 | title | Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype | |
P478 | volume | 16 |
Q44675167 | A Gilbert's syndrome UGT1A1 variant confers susceptibility to tranilast-induced hyperbilirubinemia. |
Q90115014 | A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I |
Q36964471 | A systems approach implicates nuclear receptor targeting in the Atp7b(-/-) mouse model of Wilson's disease |
Q37313599 | A translationally optimized AAV-UGT1A1 vector drives safe and long-lasting correction of Crigler-Najjar syndrome |
Q33283468 | Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes |
Q96954325 | An ultra-sensitive and easy-to-use assay for sensing human UGT1A1 activities in biological systems |
Q58558363 | Antioxidant bilirubin works in multiple ways to reduce risk for obesity and its health complications |
Q98613207 | Application of pharmacogenetics in oncology |
Q35807302 | Association of Neonatal Hyperbilirubinemia with UGT1A1 Gene Polymorphisms: A Meta-Analysis. |
Q78434081 | Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome |
Q28240269 | Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects |
Q47895958 | Beyond drug-drug interactions: effects of transporter inhibition on endobiotics, nutrients and toxins |
Q34257505 | Bilirubin Glucuronidation Revisited: Proper Assay Conditions to Estimate Enzyme Kinetics with Recombinant UGT1A1 |
Q34011206 | Bilirubin uridine diphosphate-glucuronosyltransferase variation is a genetic basis of breast milk jaundice |
Q57034510 | Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome |
Q39549524 | Case-controlled study on indirect hyperbilirubinemia in exclusively breast fed neonates and mutations of the bilirubin Uridine Diphosphate-Glucuronyl transferase gene 1A1. |
Q33677943 | Characteristics of the heme catabolic pathway in mild unconjugated hyperbilirubinemia and their associations with inflammation and disease prevention |
Q44614894 | Characterization of bropirimine O-glucuronidation in human liver microsomes |
Q92604974 | Circadian Clock Gene Bmal1 Regulates Bilirubin Detoxification: A Potential Mechanism of Feedback Control of Hyperbilirubinemia |
Q26784507 | Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing |
Q46825406 | Comparative genomics analysis of human sequence variation in the UGT1A gene cluster |
Q34551930 | Correlation between bilirubin glucuronidation and estradiol-3-gluronidation in the presence of model UDP-glucuronosyltransferase 1A1 substrates/inhibitors |
Q92845907 | Coupling AAV-mediated promoterless gene targeting to SaCas9 nuclease to efficiently correct liver metabolic diseases |
Q43261006 | Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants |
Q54571855 | Crigler-Najjar syndrome type 2. |
Q43968197 | Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene |
Q43976043 | Crigler-Najjar syndrome type II in a caucasian patient resulting from two mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene |
Q37596306 | Developmental onset of bilirubin-induced neurotoxicity involves Toll-like receptor 2-dependent signaling in humanized UDP-glucuronosyltransferase1 mice. |
Q39173495 | Developmental, Genetic, Dietary, and Xenobiotic Influences on Neonatal Hyperbilirubinemia |
Q34306168 | Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilbert's syndrome |
Q47119625 | Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II. |
Q64063291 | Does elevated bilirubin aid weight control by preventing development of hypothalamic leptin resistance? |
Q30448607 | Early complication in sickle cell anemia children due to A(TA)nTAA polymorphism at the promoter of UGT1A1 gene |
Q41078858 | Effect of UDP-Glucuronosyltransferase (UGT) 1A Polymorphism (rs8330 and rs10929303) on Glucuronidation Status of Acetaminophen |
Q44219233 | Expression and characterization of recombinant human UDP-glucuronosyltransferases (UGTs). UGT1A9 is more resistant to detergent inhibition than other UGTs and was purified as an active dimeric enzyme. |
Q38134859 | Gender-dependent differences in uridine 5'-diphospho-glucuronosyltransferase have implications in metabolism and clearance of xenobiotics |
Q45882803 | Gene therapy for inherited hyperbilirubinemias |
Q28541860 | Generation of Ugt1-deficient murine liver cell lines using TALEN technology |
Q39717544 | Genetic modulators of sickle cell disease in French Guiana: Markers of the slave trade |
Q54706365 | Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. |
Q28730582 | Genetic variations and haplotype diversity of the UGT1 gene cluster in the Chinese population |
Q59504056 | Germline oncopharmacogenetics, a promising field in cancer therapy |
Q37997047 | Gilbert syndrome: the UGT1A1*28 promoter polymorphism as a biomarker of multifactorial diseases and drug metabolism |
Q34635472 | Hereditary spherocytosis coexisting with UDP-glucuronosyltransferase deficiency highly suggestive of Crigler-Najjar syndrome type II |
Q43730391 | Homodimerization of human bilirubin-uridine-diphosphoglucuronate glucuronosyltransferase-1 (UGT1A1) and its functional implications |
Q35881663 | Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia. |
Q24683238 | Induction of bilirubin clearance by the constitutive androstane receptor (CAR) |
Q26776470 | Inherited disorders of bilirubin clearance |
Q28217356 | Inherited disorders of bilirubin metabolism |
Q39499591 | Inhibitory effect of 5β-pregnane-3α,20β-diol on transcriptional activity and enzyme activity of human bilirubin UDP-glucuronosyltransferase |
Q79294924 | Intra-ethnic differences in genetic variants of the UGT-glucuronosyltransferase 1A1 gene in Chinese populations |
Q47145460 | Life-Threatening Irinotecan-Induced Toxicity in an Adult Patient with Alveolar Rhabdomyosarcoma: The Role of a UGT1A1 Polymorphism |
Q24555782 | Lifelong elimination of hyperbilirubinemia in the Gunn rat with a single injection of helper-dependent adenoviral vector |
Q48178898 | Long-term correction of bilirubin UDPglucuronyltransferase deficiency in rats by in utero lentiviral gene transfer |
Q36799263 | Management of pregnancy in Crigler Najjar syndrome type 2. |
Q24564082 | Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function |
Q33812983 | Modulation of Mrp1 (ABCc1) and Pgp (ABCb1) by bilirubin at the blood-CSF and blood-brain barriers in the Gunn rat. |
Q37709064 | Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II. |
Q26863145 | New insights in bilirubin metabolism and their clinical implications |
Q38267499 | Nuclear hormone receptors PXR and CAR and metabolic diseases |
Q45178769 | Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome. |
Q37182212 | PhRMA white paper on ADME pharmacogenomics. |
Q24562836 | PharmGKB summary: very important pharmacogene information for UGT1A1 |
Q23919667 | Pharmacogenetics, pharmacogenomics, and individualized medicine |
Q35157993 | Pharmacogenomics of human UDP-glucuronosyltransferase enzymes |
Q36051913 | Pharmacokinetics and pharmacodynamics of orally administered acetylenic tricyclic bis(cyanoenone), a highly potent Nrf2 activator with a reversible covalent mode of action. |
Q46938510 | Polymorphisms of the uridine-diphosphoglucuronosyltransferase 1A1 gene and coronary artery disease. |
Q37378051 | Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes |
Q39010529 | Prenatal diagnosis of Crigler-Najjar syndrome type I by single-strand conformation polymorphism (SSCP). |
Q37707406 | Prevalence of UDP-glucuronosyltransferase polymorphisms (UGT1A6∗2, 1A7∗12, 1A8∗3, 1A9∗3, 2B7∗2, and 2B15∗2) in a Saudi population |
Q93025034 | Prolonged central apnoea after intravenous morphine administration in a 12-year-old male with a UGT1A1 loss-of-function polymorphism |
Q41876346 | Promoterless gene targeting without nucleases rescues lethality of a Crigler-Najjar syndrome mouse model |
Q35675171 | Quantification of human uridine-diphosphate glucuronosyl transferase 1A isoforms in liver, intestine, and kidney using nanobore liquid chromatography-tandem mass spectrometry. |
Q36717163 | RNA-sequencing quantification of hepatic ontogeny and tissue distribution of mRNAs of phase II enzymes in mice |
Q93015043 | Recent progress and challenges in screening and characterization of UGT1A1 inhibitors |
Q40190741 | Regulation of the UGT1A1 bilirubin-conjugating pathway: role of a new splicing event at the UGT1A locus |
Q30515514 | Rescue of bilirubin-induced neonatal lethality in a mouse model of Crigler-Najjar syndrome type I by AAV9-mediated gene transfer |
Q43529994 | Risk factors associated with unconjugated neonatal hyperbilirubinemia in Malaysian neonates |
Q40679326 | Role of cysteine residues in the function of human UDP glucuronosyltransferase isoform 1A1 (UGT1A1) |
Q35858211 | Serum bilirubin concentration is modified by UGT1A1 haplotypes and influences risk of type-2 diabetes in the Norfolk Island genetic isolate |
Q45884216 | Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China |
Q28547377 | Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II |
Q36744280 | Stem cell therapy for inherited metabolic disorders of the liver |
Q40342200 | Successful treatment of UGT1A1 deficiency in a rat model of Crigler-Najjar disease by intravenous administration of a liver-specific lentiviral vector |
Q48006787 | Systemic regulation of bilirubin homeostasis: Potential benefits of hyperbilirubinemia |
Q41818263 | The MDR1 C3435T polymorphism: effects on P-glycoprotein expression/function and clinical significance |
Q39352088 | The Tunisian population history through the Crigler-Najjar type I syndrome |
Q40222201 | The incidence and risk factors of febrile neutropenia in chemotherapy-naïve lung cancer patients receiving etoposide plus platinum. |
Q53455133 | The inhibition study of human UDP-glucuronosyltransferases with cytochrome P450 selective substrates and inhibitors. |
Q39048488 | The molecular basis of jaundice: An old symptom revisited. |
Q24317368 | The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts |
Q26999452 | The role of transporters in toxicity and disease |
Q35969947 | Transport and metabolism at blood-brain interfaces and in neural cells: relevance to bilirubin-induced encephalopathy. |
Q33826934 | Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene |
Q52614377 | UGT1A1 Genetic Variations and a Haplotype Associated with Neonatal Hyperbilirubinemia in Indonesian Population. |
Q90640155 | UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays |
Q43122090 | UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population |
Q42181720 | UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation. |
Q44919227 | UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias |
Q37402459 | UGT1A1 gene polymorphism: impact on toxicity and efficacy of irinotecan-based regimens in metastatic colorectal cancer |
Q24648015 | UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer |
Q60961698 | UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation |
Q92142442 | UGT1A1 mutations and psychoses: towards understanding the relationship with unconjugated bilirubin |
Q43849188 | UGT1A1 polymorphism predicts irinotecan toxicity: evolving proof. |
Q37682812 | UGT1A1 polymorphisms in cancer: impact on irinotecan treatment |
Q85987864 | UGT1A1 promoter polymorphism associated with serum bilirubin level in Saudi patients with sickle cell disease |
Q43284930 | UGT1A1, UGT1A6 and UGT1A7 genetic analysis: repercussion for irinotecan pharmacogenetics in the São Miguel Island Population (Azores, Portugal). |
Q90751255 | Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria |
Q54987110 | Yinchenhao Decoction Ameliorates Alpha-Naphthylisothiocyanate Induced Intrahepatic Cholestasis in Rats by Regulating Phase II Metabolic Enzymes and Transporters. |
Q82060668 | [Crigler-Najjar syndrome] |
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