| 1 | UGT1A1, UGT1A6
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| The development of UDP-glucuronosyltransferases 1A1 and 1A6 in the pediatric liver.
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| Miyagi SJ, Collier AC.
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| Drug Metab Dispos 39(5):912-9. doi: 10.1124/dmd.110.037192. Epub 2011 Jan 25.
2011
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| 2 | UGT1A1
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| Pegvisomant-induced liver injury is related to the UGT1A1*28 polymorphism of Gilbert's syndrome.
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| Bernabeu I, Marazuela M, Lucas T, Loidi L, Alvarez-Escolá C, Luque-Ramírez M, Fernandez-Rodriguez E, Paniagua AE, Quinteiro C, Casanueva FF.
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| J Clin Endocrinol Metab 95(5):2147-54. Epub 2010 Mar 5.
2010
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| 3 | UGT1A1
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| Dose-dependent association between UGT1A1 *28 polymorphism and irinotecan-induced diarrhoea: A meta-analysis.
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| Hu ZY, Yu Q, Zhao YS.
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| Eur J Cancer ur J Cancer. 2010 Mar 22. [Epub ahead of print]
2010
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| 4 | UGT1A1
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| Genetic polymorphism in the conjugating enzyme UGT1A1 and the risk of head and neck cancer.
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| Lacko M, Roelofs HM, Te Morsche RH, Voogd AC, Oude Ophuis MB, Peters WH, Manni JJ.
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| Int J Cancer nt J Cancer. 2010 Mar 3. [Epub ahead of print]
2010
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| 5 | UGT1A1
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| Modulation of the human glucuronosyltransferase UGT1A pathway by splice isoform polypeptides is mediated through protein-protein interactions.
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| Bellemare J, Rouleau M, Harvey M, Guillemette C.
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| J Biol Chem 285(6):3600-7. Epub 2009 Dec 8.
2010
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| 6 | UGT1A1
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| The association between TA-repeat polymorphism in the promoter region of UGT1A1 and breast cancer risk: a meta-analysis.
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| Yao L, Qiu LX, Yu L, Yang Z, Yu XJ, Zhong Y, Yu L.
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| Breast Cancer Res Treat reast Cancer Res Treat. 2010 Jan 20. [Epub ahead of print]
2010
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| 7 | UGT1A1
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| A polymorphic mutation, c.-3279T>G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population.
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| Yusoff S, Takeuchi A, Ashi C, Tsukada M, Maʼamor NH, Alwi Zilfalil B, Mohd Yusoff N, Nakamura T, Hirai M, Sari Kusuma Harahap I, Gunadi, Jin Lee M, Yutaka Takaoka NN, Morikawa S, Morioka I, Yokoyama N, Matsuo M, Nishio H, van Rostenberghe H.
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| Pediatr Res ediatr Res. 2010 Jan 6. [Epub ahead of print]
2010
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| 8 | UGT1A1, UGT1A6
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| Combined UGT1A1 and UGT1A6 genotypes together with a stressful life event increase breast cancer risk.
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| Justenhoven C, Winter S, Dünnebier T, Hamann U, Baisch C, Rabstein S, Spickenheuer A, Harth V, Pesch B, Brüning T, Ko YD, Brauch H.
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| Breast Cancer Res Treat 124(1):289-92. doi: 10.1007/s10549-010-1093-7. Epub 2010 Aug 5. No abstract available.
2010
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| 9 | UGT1A1
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| Genome-wide association meta-analysis for total serum bilirubin levels.
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| Johnson AD, Kavousi M, Smith AV, Chen MH, Dehghan A, Aspelund T, Lin JP, van Duijn CM, Harris TB, Cupples LA, Uitterlinden AG, Launer L, Hofman A, Rivadeneira F, Stricker B, Yang Q, O'Donnell CJ, Gudnason V, Witteman JC.
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| Hum Mol Genet 18(14):2700-10. Epub 2009 May 4.
2009
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| 10 | UGT1A1, UGT1A9
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| UGT1A1 and UGT1A9 functional variants, meat intake, and colon cancer, among Caucasians and African-Americans.
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| Girard H, Butler LM, Villeneuve L, Millikan RC, Sinha R, Sandler RS, Guillemette C.
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| Mutat Res 644(1-2):56-63. Epub 2008 Jul 16.
2008
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| 11 | UGT1A1
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| Pharmacogenetics of Gilbert's syndrome.
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| Strassburg CP.
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| Pharmacogenomics 9(6):703-15. Review.
2008
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| 12 | UGT1A1, UGT1A7
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| Combined UGT1A1 and UGT1A7 variant alleles are associated with increased risk of Gilbert's syndrome in Taiwanese adults.
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| Teng HC, Huang MJ, Tang KS, Yang SS, Tseng CS, Huang CS.
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| Clin Genet 72(4):321-8. 2007
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| 13 | UGT1A1, UGT1A4, UGT1A6
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| Interactions between human UGT1A1, UGT1A4, and UGT1A6 affect their enzymatic activities.
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| Fujiwara R, Nakajima M, Yamanaka H, Katoh M, Yokoi T.
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| Drug Metab Dispos 35(10):1781-7. Epub 2007 Jul 9.
2007
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| 14 | UGT1A1
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| Genetic diversity at the UGT1 locus is amplified by a novel 3' alternative splicing mechanism leading to nine additional UGT1A proteins that act as regulators of glucuronidation activity.
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| Girard H, Lévesque E, Bellemare J, Journault K, Caillier B, Guillemette C.
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| Pharmacogenet Genomics 17(12):1077-89.
2007
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| 15 | CNS2, UGT1A1
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| Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.
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| Petit F, Gajdos V, Capel L, Parisot F, Myara A, Francoual J, Labrune P.
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| Clin Genet 69(6):525-7. No abstract available. 2006
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| 16 | UGT1A1, CNS1
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| Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
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| Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, Tachdjian G, Pous C, Labrune P.
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| Eur J Hum Genet 13(3):278-82. 2005
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| 17 | UGT1A1
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| Role of cysteine residues in the function of human UDP glucuronosyltransferase isoform 1A1 (UGT1A1).
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| Ghosh SS, Lu Y, Lee SW, Wang X, Guha C, Roy-Chowdhury J, Roy-Chowdhury N.
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| Biochem J 392(Pt 3):685-92. 2005
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| 18 | GBTS, UGT1A1
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| Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome.
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| Maruo Y, D Addario C, Mori A, Iwai M, Takahashi H, Sato H, Takeuchi Y.
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| Hum Genet 115(6):525-6. Epub 2004 Nov. 2004
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| 19 | UGT1A1
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| The functional UGT1A1 promoter polymorphism decreases endometrial cancer risk.
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| Duguay Y, McGrath M, Lepine J, Gagne JF, Hankinson SE, Colditz GA, Hunter DJ, Plante M, Tetu B, Belanger A, Guillemette C, De Vivo I.
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| Cancer Res 64(3):1202-7. 2004
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| 20 | UGT1A1
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| Differential and special properties of the major human UGT1-encoded gastrointestinal UDP-glucuronosyltransferases enhance potential to control chemical uptake.
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| Basu NK, Ciotti M, Hwang MS, Kole L, Mitra PS, Cho JW, Owens IS.
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| J Biol Chem 279(2):1429-41. Epub 2003 Oct 13.
2004
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| 21 | UGT1A1
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| Evidence for a gene influencing serum bilirubin on chromosome 2q telomere: a genomewide scan in the Framingham study.
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| Lin JP, Cupples LA, Wilson PW, Heard-Costa N, O'Donnell CJ.
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| Am J Hum Genet 72(4):1029-34. Epub 2003 Feb 28. 2003
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| 22 | CNS1, UGT1A1
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| A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1.
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| Sappal BS, Ghosh SS, Shneider B, Kadakol A, Chowdhury JR, Chowdhury NR.
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| Mol Genet Metab 75(2):134-42. 2002
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| 23 | GBTS, UGT1A1
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| Frequencies of UDP-glucuronosyltransferase 1 (UGT1A1) gene promoter polymorphisms among distinct ethnic groups from Brazil.
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| Fertrin KY, Goncalves MS, Saad ST, Costa FF.
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| Am J Med Genet 108(2):117-9. 2002
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| 24 | UGT1A1, GBTS
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| Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.
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| Sugatani J, Yamakawa K, Yoshinari K, Machida T, Takagi H, Mori M, Kakizaki S, Sueyoshi T, Negishi M, Miwa M.
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| Biochem Biophys Res Commun 292(2):492-7. 2002
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| 25 | GBTS, UGT1A1
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| Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.
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| Kadakol A, Sappal BS, Ghosh SS, Lowenheim M, chowdhury A, Chowdhury S, Santra A, Arias IM, Chowdhury JR, Chowdhury NR.
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| J Med Genet 38 : 244-249. 2001
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| 26 | CNS2, UGT1A1
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| Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.
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| Iolascon A, Meloni A, Coppola B, Rosatelli MC.
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| J Med Genet 37(9):712-3. No abstract available. 2000
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| 27 | GBTS, UGT1A1
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| Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
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| Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M.
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| Pediatrics 106(5):E59. 2000
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| 28 | GBTS, UGT1A1
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| (TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome.
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| Iolascon A, et al.
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| Haematologica 84(2):106-9. 1999
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| 29 | CNS1, UGT1A1
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| Splice-site mutations : a novel genetic mechanism of Crigler-Najjar syndrome type 1.
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| Gantla S, et al.
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| Am J Hum Genet 62 : 585-592. 1998
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| 30 | GBTS, UGT1A1
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| Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.
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| Maruo Y, et al.
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| J Pediatr 132 : 1045-1047. 1998
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| 31 | CNS2, GBTS, UGT1A1
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| 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.
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| Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T.
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| Biochim Biophys Acta 1406 : 267-273. 1998
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| 32 | CNS1, UGT1A1
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| Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.
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| Ciotti M, Chen F, Rubaltelli FF, Owens IS.
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| Biochem Biophys Acta 1407 : 40-50. 1998
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| 33 | CNS1, UGT1A1
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| Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene : a common missense mutation among Japanese, Koreans and Chinese.
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| Akaba K, et al.
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| Biochem Mol Biol Int 46 : 21-26. 1998
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| 34 | CNS1, UGT1A1
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| Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.
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| Rosatelli MC, et al.
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| J Med Genet 34 : 122-125. 1997
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| 35 | G6PD, G6PDD, GBTS, UGT1A1
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| Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.
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| Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E.
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| Proc Natl Acad Sci U S A 94(22):12128-32. 1997
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| 36 | GBTS, UGT1A1
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| Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome.
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| Monaghan G, et al.
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| Lancet 347 : 578-581. 1996
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| 37 | CNS2, UGT1A1
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| Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait.
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| Koiwai O, et al.
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| Hum Mol Genet 5 : 645-647. 1996
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| 38 | CNS2, UGT1A1
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| 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.
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| Seppen J, et al.
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| FEBS Lett 390 : 294-298. 1996
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| 39 | UGT1A1
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| Three Japenese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase.
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| Koiwai O, et al.
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| Jpn J Hum Genet 40 : 253-257. 1995
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| 40 | GBTS, UGT1A1
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| Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.
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| Koiwai O, et al.
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| Hum Mol Genet 4 : 1183-1186. 1995
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| 41 | GBTS, UGT1A1
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| The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
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| Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al.
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| N Engl J Med 333(18):1171-5. 1995
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| 42 | CNS1, UGT1A1
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| Genetic heterogeneity of Crigler-Najjar syndrome type I : a study of 14 cases.
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| Labrune P, et al.
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| Hum Genet 94 : 693-697. 1994
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| 43 | CNS1, CNS2, UGT1A1
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| Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
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| Seppen J, et al.
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| J Clin Invest 94 : 2385-2391. 1994
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| 44 | CNS1, UGT1A1
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| A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.
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| Ritter JK, et al.
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| J Biol Chem 268 : 23573-23579. 1993
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| 45 | CNS2, UGT1A1
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| Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
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| Aono S, et al.
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| Biochem Biophys Res Commun 197 : 1239-1244. 1993
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| 46 | CNS1, UGT1A1
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| Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I : implication in carrier detection and prenatal diagnosis.
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| Moghrabi N, et al.
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| Am J Hum Genet 53 : 722-729. 1993
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| 47 | CNS2, UGT1A1
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| Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.
|
| Moghrabi N, Clarke DJ, Boxer M, Burchell B.
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| Genomics 18(1):171-3. No abstract available. 1993
|