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Volumn 5, Issue 6, 1996, Pages 297-307

Genetic background of constitutional unconjugated hyperbilirubinemia

Author keywords

Crigler Najjar syndrome; Gilbert's syndrome; Gunn rat; heredity; UDP glucuronosyltransferase

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE; MESSENGER RNA;

EID: 0030271906     PISSN: 09284346     EISSN: None     Source Type: Journal    
DOI: 10.1016/0928-4346(96)00313-1     Document Type: Short Survey
Times cited : (17)

References (58)
  • 1
    • 0025773294 scopus 로고
    • The UDP glucuronosyltransferase gene superfamily: Suggested nomenclature based on evolutionary divergence
    • [1] Burchell B, Nebert DW, Nelson DR, et al. The UDP glucuronosyltransferase gene superfamily: suggested nomenclature based on evolutionary divergence. DNA Cell Biol 1991; 10: 487-494.
    • (1991) DNA Cell Biol , vol.10 , pp. 487-494
    • Burchell, B.1    Nebert, D.W.2    Nelson, D.R.3
  • 2
    • 0002893959 scopus 로고
    • Bilirubin metabolism and hyperbilirubinemia
    • Isselbacher KJ, Braunwald E, Wilson JD, Martin JB, Fauci AS, Kasper DL, eds. New York: McGraw-Hill
    • [2] Isselbacher KJ. Bilirubin metabolism and hyperbilirubinemia. In: Isselbacher KJ, Braunwald E, Wilson JD, Martin JB, Fauci AS, Kasper DL, eds. Harrison's principles of internal medicine, 13th edn. New York: McGraw-Hill, 1994; 1453-1458.
    • (1994) Harrison's Principles of Internal Medicine, 13th Edn. , pp. 1453-1458
    • Isselbacher, K.J.1
  • 4
    • 0023226094 scopus 로고
    • Membrane-membrane interactions associated with rapid transfer of liposomal bilirubin to microsomal UDP-glucuronyl-transferase. Relevance for hepatocellular transport and biotransformation of hydrophobic substrates
    • [4] Whitmer DI, Russell P, Gollan JL. Membrane-membrane interactions associated with rapid transfer of liposomal bilirubin to microsomal UDP-glucuronyl-transferase. Relevance for hepatocellular transport and biotransformation of hydrophobic substrates. Biochem J 1987; 244: 41-47.
    • (1987) Biochem J , vol.244 , pp. 41-47
    • Whitmer, D.I.1    Russell, P.2    Gollan, J.L.3
  • 5
    • 0028858409 scopus 로고
    • Influence of glutathione S-transferase B (ligandin) on the intermembrane transfer of bilirubin
    • [5] Zucker SD, Goessling W, Ransil BJ, Gollan JL. Influence of glutathione S-transferase B (ligandin) on the intermembrane transfer of bilirubin. J Clin Invest 1995; 96: 1927-1935.
    • (1995) J Clin Invest , vol.96 , pp. 1927-1935
    • Zucker, S.D.1    Goessling, W.2    Ransil, B.J.3    Gollan, J.L.4
  • 6
    • 0028063395 scopus 로고
    • Function and regulation of UDP-glucuronosyltransferase genes in health and liver disease: Report of the Seventh International Workshop on Glucuronidation, September 1993, Pitlochry, Scotland
    • [6] Burchell B, Coughtrie MWH, Jansen PLM. Function and regulation of UDP-glucuronosyltransferase genes in health and liver disease: report of the Seventh International Workshop on Glucuronidation, September 1993, Pitlochry, Scotland. Hepatology 1994; 20: 1622-1630.
    • (1994) Hepatology , vol.20 , pp. 1622-1630
    • Burchell, B.1    Coughtrie, M.W.H.2    Jansen, P.L.M.3
  • 7
    • 0027412988 scopus 로고
    • Assignment of the human UDP-glucuronosyltransferase gene (UGT1a1) to chromosome 2q7
    • [7] Van Es HHG, Bout A, Liu J. et al. Assignment of the human UDP-glucuronosyltransferase gene (UGT1a1) to chromosome 2q7. Cytogenet Cell Genet 1993; 63: 114-116.
    • (1993) Cytogenet Cell Genet , vol.63 , pp. 114-116
    • Van Es, H.H.G.1    Bout, A.2    Liu, J.3
  • 8
    • 0028957796 scopus 로고
    • Mapping of rat bilirubin UDP-glucuronosyltransferase gene (Ugt 1a1) to chromosome region 9q35-q36
    • [8] Nagai F, Satoh H, Mori S, et al. Mapping of rat bilirubin UDP-glucuronosyltransferase gene (Ugt 1a1) to chromosome region 9q35-q36. Cytogenet Cell Genet 1995; 69: 185-186.
    • (1995) Cytogenet Cell Genet , vol.69 , pp. 185-186
    • Nagai, F.1    Satoh, H.2    Mori, S.3
  • 9
    • 0026736260 scopus 로고
    • Localization of a bile acid UDP-glucuronosyltransferase gene (UGT2B) to chromosome 4 using the polymerase chain reaction
    • [9] Monaghan G, Povey S, Burchell B, Boxer M. Localization of a bile acid UDP-glucuronosyltransferase gene (UGT2B) to chromosome 4 using the polymerase chain reaction. Genomics 1992; 13: 908-909.
    • (1992) Genomics , vol.13 , pp. 908-909
    • Monaghan, G.1    Povey, S.2    Burchell, B.3    Boxer, M.4
  • 10
    • 0027511218 scopus 로고
    • Regional assignment of rat androsterone UDP-glucuronosyltransferase gene (UGT2B2) to chromosome 14p21.2-p22
    • [10] Satoh H, Nagai F, Homma H, Mori S, Matsui M, Regional assignment of rat androsterone UDP-glucuronosyltransferase gene (UGT2B2) to chromosome 14p21.2-p22. Cytogenet Cell Genet 1993; 62: 49-51.
    • (1993) Cytogenet Cell Genet , vol.62 , pp. 49-51
    • Satoh, H.1    Nagai, F.2    Homma, H.3    Mori, S.4    Matsui, M.5
  • 11
    • 0024566868 scopus 로고
    • An investigation of the transverse topology of bilirubin UDP-glucuronosyltransferase in rat hepatic endoplasmic reticulum
    • [11] Shepherd SRP, Baird SJ, Hallinan T, Burchell B. An investigation of the transverse topology of bilirubin UDP-glucuronosyltransferase in rat hepatic endoplasmic reticulum. Biochem J 1989; 259: 617-620.
    • (1989) Biochem J , vol.259 , pp. 617-620
    • Shepherd, S.R.P.1    Baird, S.J.2    Hallinan, T.3    Burchell, B.4
  • 12
    • 0026879233 scopus 로고
    • The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: Implications for multiple nonhemolytic familial hyperbilirubinemia
    • [12] Owens IS, Ritter JK. The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia. Pharmacogenetics 1992; 2: 93-108.
    • (1992) Pharmacogenetics , vol.2 , pp. 93-108
    • Owens, I.S.1    Ritter, J.K.2
  • 13
    • 0028276410 scopus 로고
    • Bilirubin UDP-glucuronosyltransferase I is the only relevant bilirubin glucuronidating isoform in man
    • [13] Bosma PJ, Seppen J, Goldhoorn B. Bilirubin UDP-glucuronosyltransferase I is the only relevant bilirubin glucuronidating isoform in man. J Biol Chem 1994; 269: 17960-17964.
    • (1994) J Biol Chem , vol.269 , pp. 17960-17964
    • Bosma, P.J.1    Seppen, J.2    Goldhoorn, B.3
  • 14
    • 0021133988 scopus 로고
    • The molecular weights of UDP-glucuronosyltransferase determined with radiation-inactivation analysis
    • [14] Peters WHM, Jansen PLM, Nauto H. The molecular weights of UDP-glucuronosyltransferase determined with radiation-inactivation analysis. J Biol Chem 1984; 259: 11 701-11 705.
    • (1984) J Biol Chem , vol.259 , pp. 11701-11705
    • Peters, W.H.M.1    Jansen, P.L.M.2    Nauto, H.3
  • 15
    • 0028904620 scopus 로고
    • Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome
    • [15] Aono S, Adachi Y, Uyama E, et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet 1995; 345: 958-959.
    • (1995) Lancet , vol.345 , pp. 958-959
    • Aono, S.1    Adachi, Y.2    Uyama, E.3
  • 16
    • 0027991904 scopus 로고
    • Investigation of the substrate specificity of a cloned expressed human bilirubin UDP-glucuronosyltransferase: UDP-sugar specificity and involvement in steroid and xenobiotic glucuronidation
    • [16] Senafi SB, Clarke DJ, Burchell B. Investigation of the substrate specificity of a cloned expressed human bilirubin UDP-glucuronosyltransferase: UDP-sugar specificity and involvement in steroid and xenobiotic glucuronidation. Biochem J 1994; 303: 233-240.
    • (1994) Biochem J , vol.303 , pp. 233-240
    • Senafi, S.B.1    Clarke, D.J.2    Burchell, B.3
  • 17
    • 0027235464 scopus 로고
    • Glucuronidation of thyroid hormone by human bilirubin and phenol UDP-glucuronosyltransferase isozymes
    • [17] Visser TJ, Kaptein E, Gijzel AL, De Herder WW, Ebner R, Burchell B. Glucuronidation of thyroid hormone by human bilirubin and phenol UDP-glucuronosyltransferase isozymes. FEBS Lett 1993; 324: 358-360.
    • (1993) FEBS Lett , vol.324 , pp. 358-360
    • Visser, T.J.1    Kaptein, E.2    Gijzel, A.L.3    De Herder, W.W.4    Ebner, R.5    Burchell, B.6
  • 18
    • 0029039045 scopus 로고
    • Cloning and stable expression of a cDNA encoding a rat liver UDP-glucuronosyltransferase (UDP-glucuronosyltransferase 1.1) that catalyzes the glucuronidation of opioids and bilirubin
    • [18] Coffman BL, Green MD, King CD, Tephly TR. Cloning and stable expression of a cDNA encoding a rat liver UDP-glucuronosyltransferase (UDP-glucuronosyltransferase 1.1) that catalyzes the glucuronidation of opioids and bilirubin. Mol Pharmacol 1995; 47: 1101-1105.
    • (1995) Mol Pharmacol , vol.47 , pp. 1101-1105
    • Coffman, B.L.1    Green, M.D.2    King, C.D.3    Tephly, T.R.4
  • 19
    • 0001036382 scopus 로고
    • Cloning and substrate specificity of a human phenol UDP-glucuronosyltransferase expressed in COS-7 cells
    • [19] Harding D, Fournel-Gigleuz S, Jackson MR, Burchell B. Cloning and substrate specificity of a human phenol UDP-glucuronosyltransferase expressed in COS-7 cells. Proc Natl Acad Sci USA 1988; 85: 8381-8385.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 8381-8385
    • Harding, D.1    Fournel-Gigleuz, S.2    Jackson, M.R.3    Burchell, B.4
  • 20
    • 0025861217 scopus 로고
    • Cloning and stable expression of a new member of the human liver phenol/bilirubin: UDP-glucuronosyltransferase cDNA family
    • [20] Wooster R, Sutherland L, Ebner T, et al. Cloning and stable expression of a new member of the human liver phenol/bilirubin: UDP-glucuronosyltransferase cDNA family. Biochem J 1991; 278: 465-469.
    • (1991) Biochem J , vol.278 , pp. 465-469
    • Wooster, R.1    Sutherland, L.2    Ebner, T.3
  • 21
    • 0028948889 scopus 로고
    • Expressed human UGT1.4 protein catalyzes the formation of quaternary ammonium-linked glucuronides
    • [21] Green MD, Bishop WP, Tephly TR. Expressed human UGT1.4 protein catalyzes the formation of quaternary ammonium-linked glucuronides. Drug Metab Dispos 1995; 23: 299-302.
    • (1995) Drug Metab Dispos , vol.23 , pp. 299-302
    • Green, M.D.1    Bishop, W.P.2    Tephly, T.R.3
  • 22
    • 0025871840 scopus 로고
    • Roles of UDP-glucuronosyltransferases in chemical carcinogenesis
    • [22] Bock KW. Roles of UDP-glucuronosyltransferases in chemical carcinogenesis. Crit Rev Biochem Mol Biol 1991; 26: 129-150.
    • (1991) Crit Rev Biochem Mol Biol , vol.26 , pp. 129-150
    • Bock, K.W.1
  • 23
    • 0029559174 scopus 로고
    • Identification and analysis of drug-responsive expression of UDP-glucuronosyltransferase family 1 (UGT1) isozyme in rat hepatic microsomes using antipeptide antibodies
    • [23] Ikushiro S, Emi Y, Iyanagi T. Identification and analysis of drug-responsive expression of UDP-glucuronosyltransferase family 1 (UGT1) isozyme in rat hepatic microsomes using antipeptide antibodies. Arch Biochem Biophys 1995; 324: 267-272.
    • (1995) Arch Biochem Biophys , vol.324 , pp. 267-272
    • Ikushiro, S.1    Emi, Y.2    Iyanagi, T.3
  • 24
    • 0030044294 scopus 로고    scopus 로고
    • Xenobiotic responsive element-mediated transcriptional activation in the UDP-glucuronosyltransferase family 1 gene complex
    • [24] Emi Y, Ikushiro S, Iyanagi T. Xenobiotic responsive element-mediated transcriptional activation in the UDP-glucuronosyltransferase family 1 gene complex. J Biol Chem 1996; 271: 3952-3958.
    • (1996) J Biol Chem , vol.271 , pp. 3952-3958
    • Emi, Y.1    Ikushiro, S.2    Iyanagi, T.3
  • 25
    • 0030071042 scopus 로고    scopus 로고
    • Opposite regulation of bilirubin and 4-nitrophenol UDP-glucuronosyltransferase mRNA levels by 3,3′,5-triiodo-L-thyronine in rat liver
    • [25] Masmoudi T, Flanells R, Mouni J, Artur Y, Magdalour J, Goudonnet H. Opposite regulation of bilirubin and 4-nitrophenol UDP-glucuronosyltransferase mRNA levels by 3,3′,5-triiodo-L-thyronine in rat liver. FEBS Lett 1996; 379: 181-185.
    • (1996) FEBS Lett , vol.379 , pp. 181-185
    • Masmoudi, T.1    Flanells, R.2    Mouni, J.3    Artur, Y.4    Magdalour, J.5    Goudonnet, H.6
  • 26
    • 0028796027 scopus 로고
    • Membrane translocation and regulation of uridine diphosphate-glucuronic acid uptake in rat liver microsomal vesicles
    • [26] Berg Cl, Radominska A, Lester R, Gollan JL. Membrane translocation and regulation of uridine diphosphate-glucuronic acid uptake in rat liver microsomal vesicles. Gastroenterology 1995; 108: 183-192.
    • (1995) Gastroenterology , vol.108 , pp. 183-192
    • Berg, C.1    Radominska, A.2    Lester, R.3    Gollan, J.L.4
  • 27
    • 0028094741 scopus 로고
    • Carrier-mediated transport of intact UDP-glucuronic acid into the lumen of endoplasmic reticulum-derived vesicles from rat liver
    • [27] Bossuyt X, Blankaert N. Carrier-mediated transport of intact UDP-glucuronic acid into the lumen of endoplasmic reticulum-derived vesicles from rat liver. Biochem J 1994; 302: 261-269.
    • (1994) Biochem J , vol.302 , pp. 261-269
    • Bossuyt, X.1    Blankaert, N.2
  • 28
    • 0017911441 scopus 로고
    • The glutathione S-transferases: A group of multifunctional detoxification protein
    • [28] Jakoby WB. The glutathione S-transferases: a group of multifunctional detoxification protein. Adv Enzymol 1978; 46: 383-414.
    • (1978) Adv Enzymol , vol.46 , pp. 383-414
    • Jakoby, W.B.1
  • 29
    • 0029331808 scopus 로고
    • Evidence for glucuronide (small molecule) sorting by human hepatic endoplasmic reticulum
    • [29] Waddell ID, Robertson K, Burchell A, Hume R, Burchell B. Evidence for glucuronide (small molecule) sorting by human hepatic endoplasmic reticulum. Mol Membr Biol 1995; 12: 283-288.
    • (1995) Mol Membr Biol , vol.12 , pp. 283-288
    • Waddell, I.D.1    Robertson, K.2    Burchell, A.3    Hume, R.4    Burchell, B.5
  • 30
    • 0023019287 scopus 로고
    • Cloning and characterization of cDNA encoding 3-methylchloranthrene inducible rat mRNA for UDP-glucuronosyltransferase
    • [30] Iyanagi T, Haniu M, Sogawa K, et al. Cloning and characterization of cDNA encoding 3-methylchloranthrene inducible rat mRNA for UDP-glucuronosyltransferase. J Biol Chem 1986; 261: 15 607-15 613.
    • (1986) J Biol Chem , vol.261 , pp. 15607-15613
    • Iyanagi, T.1    Haniu, M.2    Sogawa, K.3
  • 31
    • 0024833864 scopus 로고
    • The 3-methylcholanthrene-inducible UDP-glucuronosyltransferase deficiency in the hyperbilirubinemic rat (Gunn rat) is caused by a -1 frameshift mutation
    • [31] Iyanagi T, Watanabe T, Uchiyama Y. The 3-methylcholanthrene-inducible UDP-glucuronosyltransferase deficiency in the hyperbilirubinemic rat (Gunn rat) is caused by a -1 frameshift mutation. J Biol Chem 1989; 264: 21302-21307.
    • (1989) J Biol Chem , vol.264 , pp. 21302-21307
    • Iyanagi, T.1    Watanabe, T.2    Uchiyama, Y.3
  • 32
    • 0025370878 scopus 로고
    • Isolation and sequencing of rat liver bilirubin UDP-glucuronosyltransferase cDNA: Possible alternative splicing of a common primary transcript
    • [32] Sato H, Koiwai O, Tanabe K, Kashiwamata S. Isolation and sequencing of rat liver bilirubin UDP-glucuronosyltransferase cDNA: possible alternative splicing of a common primary transcript. Biochem Biophys Res Commun 1990; 169: 260-264.
    • (1990) Biochem Biophys Res Commun , vol.169 , pp. 260-264
    • Sato, H.1    Koiwai, O.2    Tanabe, K.3    Kashiwamata, S.4
  • 33
    • 0025744087 scopus 로고
    • Genetic defect of bilirubin UDP-glucuronosyltransferase in the hyperbilirubinemic Gunn rat
    • [33] Sato H, Aono S, Kashiwamata S, Koiwai O. Genetic defect of bilirubin UDP-glucuronosyltransferase in the hyperbilirubinemic Gunn rat. Biochem Biophys Res Commun 1991; 177: 1161-1164.
    • (1991) Biochem Biophys Res Commun , vol.177 , pp. 1161-1164
    • Sato, H.1    Aono, S.2    Kashiwamata, S.3    Koiwai, O.4
  • 34
    • 0026335219 scopus 로고
    • Molecular basis of multiple UDP-glucuronosyltransferase isoenzyme deficiencies in the hyperbilirubinemic rat (Gunn rat)
    • [34] Iyanagi T. Molecular basis of multiple UDP-glucuronosyltransferase isoenzyme deficiencies in the hyperbilirubinemic rat (Gunn rat). J Biol Chem 1991; 266: 24048-24052.
    • (1991) J Biol Chem , vol.266 , pp. 24048-24052
    • Iyanagi, T.1
  • 35
    • 0027370170 scopus 로고
    • A phenylalanine codon deletion at UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase
    • [35] Ritter JK, Yeatman MT, Kaiser C, Gridelli B, Owens IS. A phenylalanine codon deletion at UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase. J Biol Chem 1993; 268: 23573-23579.
    • (1993) J Biol Chem , vol.268 , pp. 23573-23579
    • Ritter, J.K.1    Yeatman, M.T.2    Kaiser, C.3    Gridelli, B.4    Owens, I.S.5
  • 36
    • 0028830211 scopus 로고
    • Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient
    • [36] Ciotti M, Yeatman T, Sokol RJ, Owens IS. Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient. J Biol Chem 1995; 270: 3284-3291.
    • (1995) J Biol Chem , vol.270 , pp. 3284-3291
    • Ciotti, M.1    Yeatman, T.2    Sokol, R.J.3    Owens, I.S.4
  • 37
    • 0028287482 scopus 로고
    • A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I
    • [37] Aono S, Yamada Y, Keino H, et al. A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. Pediatr Res 1994; 35: 629-632.
    • (1994) Pediatr Res , vol.35 , pp. 629-632
    • Aono, S.1    Yamada, Y.2    Keino, H.3
  • 38
    • 0026764632 scopus 로고
    • Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient
    • [38] Ritter JK, Yeatman MT, Ferreira P, Owens IS. Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. J Clin Invest 1992; 90: 150-155.
    • (1992) J Clin Invest , vol.90 , pp. 150-155
    • Ritter, J.K.1    Yeatman, M.T.2    Ferreira, P.3    Owens, I.S.4
  • 39
    • 0028208939 scopus 로고
    • Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyl-transferase activity in vitro
    • [39] Erps LT, Ritter JK, Hersh JE, Blossom D, Martin NC, Owens ID. Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyl-transferase activity in vitro. J Clin Invest 1994; 93: 564-570.
    • (1994) J Clin Invest , vol.93 , pp. 564-570
    • Erps, L.T.1    Ritter, J.K.2    Hersh, J.E.3    Blossom, D.4    Martin, N.C.5    Owens, I.D.6
  • 40
    • 0028170575 scopus 로고
    • Genetic heterogeneity of Crigler-Najjar syndrome type I: A study of 14 cases
    • [40] Labrune P, Myara A, Hadchousel M, et al. Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases. Hum Genet 1994; 94: 693-697.
    • (1994) Hum Genet , vol.94 , pp. 693-697
    • Labrune, P.1    Myara, A.2    Hadchousel, M.3
  • 41
    • 0026668559 scopus 로고
    • Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I
    • [41] Bosma PJ, Roy Chowdhury J, Huang T-J, et al. Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I. FASEB J 1992; 6: 2859-2863.
    • (1992) FASEB J , vol.6 , pp. 2859-2863
    • Bosma, P.J.1    Roy Chowdhury, J.2    Huang, T.-J.3
  • 42
    • 0027422955 scopus 로고
    • Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: Implications in carrier detection and prenatal diagnosis
    • [42] Morghrabi N, Clarke DJ, Burchell B, Boxer M. Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implications in carrier detection and prenatal diagnosis. Am J Hum Genet 1993; 53: 722-729.
    • (1993) Am J Hum Genet , vol.53 , pp. 722-729
    • Morghrabi, N.1    Clarke, D.J.2    Burchell, B.3    Boxer, M.4
  • 43
    • 0026505255 scopus 로고
    • 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
    • [43] Bosma PJ, Roy Chowdhury N, Goldhoorn BG, et al. 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. Hepatology 1992; 15: 941-947.
    • (1992) Hepatology , vol.15 , pp. 941-947
    • Bosma, P.J.1    Roy Chowdhury, N.2    Goldhoorn, B.G.3
  • 44
    • 0028081366 scopus 로고
    • Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase
    • [44] Seppen J, Bosma PJ, Goldhoorn BG, et al. Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. J Clin Invest 1994; 94: 2385-2391.
    • (1994) J Clin Invest , vol.94 , pp. 2385-2391
    • Seppen, J.1    Bosma, P.J.2    Goldhoorn, B.G.3
  • 45
    • 0028970607 scopus 로고
    • Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase
    • [45] Koiwai O, Yasui Y, Hasada K, et al. Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase. Jpn J Hum Genet 1995; 40: 253-257.
    • (1995) Jpn J Hum Genet , vol.40 , pp. 253-257
    • Koiwai, O.1    Yasui, Y.2    Hasada, K.3
  • 46
    • 0019927156 scopus 로고
    • Hepatic bilirubin-conjugating enzymes of man in the normal state and in liver disease
    • [46] Adachi Y, Yamamoto T. Hepatic bilirubin-conjugating enzymes of man in the normal state and in liver disease. Gastroenterol Jpn 1982; 17: 235-240.
    • (1982) Gastroenterol Jpn , vol.17 , pp. 235-240
    • Adachi, Y.1    Yamamoto, T.2
  • 47
    • 0027234052 scopus 로고
    • A mutation in bilirubin uridine 5′-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II
    • [47] Bosma PJ, Goldhoorn B, Oude Elferink RPJ, Sinaasappel M, Oostra BA, Jansen PLM. A mutation in bilirubin uridine 5′-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. Gastroenterology 1993; 105: 216-220.
    • (1993) Gastroenterology , vol.105 , pp. 216-220
    • Bosma, P.J.1    Goldhoorn, B.2    Oude Elferink, R.P.J.3    Sinaasappel, M.4    Oostra, B.A.5    Jansen, P.L.M.6
  • 48
    • 0027739943 scopus 로고
    • Identification of defect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II
    • [48] Aono S, Yamada Y, Keino H, et al. Identification of defect in the genes for bilirubin UDP-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type II. Biochem Biophys Res Commun 1993; 197: 1239-1244.
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 1239-1244
    • Aono, S.1    Yamada, Y.2    Keino, H.3
  • 49
    • 0027524805 scopus 로고
    • Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type II
    • [49] Morghrabi N, Clarke DJ, Boxer M, Burchell B. Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type II. Genomics 1993; 18: 171-173.
    • (1993) Genomics , vol.18 , pp. 171-173
    • Morghrabi, N.1    Clarke, D.J.2    Boxer, M.3    Burchell, B.4
  • 50
    • 0029972534 scopus 로고    scopus 로고
    • Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait
    • [50] Koiwai O, Aono S, Adachi Y, et al. Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait. Hum Mol Genet 1996; 5: 645-647.
    • (1996) Hum Mol Genet , vol.5 , pp. 645-647
    • Koiwai, O.1    Aono, S.2    Adachi, Y.3
  • 51
    • 0028862469 scopus 로고
    • Predicted homozygous missense mutation in Gilbert's syndrome
    • [51] Soeda Y, Yamamoto K, Adachi Y, et al. Predicted homozygous missense mutation in Gilbert's syndrome. Lancet 1995; 346: 1494.
    • (1995) Lancet , vol.346 , pp. 1494
    • Soeda, Y.1    Yamamoto, K.2    Adachi, Y.3
  • 52
    • 0028867826 scopus 로고
    • The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    • [52] Bosma PJ, Roy Chowdhury J, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. New Engl J Med 1995; 333: 1171-1175.
    • (1995) New Engl J Med , vol.333 , pp. 1171-1175
    • Bosma, P.J.1    Roy Chowdhury, J.2    Bakker, C.3
  • 53
    • 0030030762 scopus 로고    scopus 로고
    • Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome
    • [53] Monaghan G, Ryan M, Seddon R, Hume R, Burchell B. Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome. Lancet 1996; 347: 578-581.
    • (1996) Lancet , vol.347 , pp. 578-581
    • Monaghan, G.1    Ryan, M.2    Seddon, R.3    Hume, R.4    Burchell, B.5
  • 54
    • 0030053274 scopus 로고    scopus 로고
    • The genetic basis of Gilbert's syndrome
    • [54] Sato H, Adachi Y, Koiwai O. The genetic basis of Gilbert's syndrome. Lancet 1996; 347: 557-558.
    • (1996) Lancet , vol.347 , pp. 557-558
    • Sato, H.1    Adachi, Y.2    Koiwai, O.3
  • 55
    • 0029015847 scopus 로고
    • Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
    • [55] Koiwai O, Nishizawa M, Hasada K, et al. Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet 1995; 4: 1183-1186.
    • (1995) Hum Mol Genet , vol.4 , pp. 1183-1186
    • Koiwai, O.1    Nishizawa, M.2    Hasada, K.3
  • 56
    • 0028827696 scopus 로고
    • Gilbert's syndrome - A legitimate genetic anomaly?
    • [56] Schmid R. Gilbert's syndrome - a legitimate genetic anomaly? New Engl J Med 1995; 333: 1217-1218.
    • (1995) New Engl J Med , vol.333 , pp. 1217-1218
    • Schmid, R.1
  • 57
    • 0027692685 scopus 로고
    • Human UDP-glucuronosyl transferases: Chemical defence, jaundice and gene therapy
    • [57] Brierley CH, Burchell B. Human UDP-glucuronosyl transferases: chemical defence, jaundice and gene therapy. BioEssays 1993; 15: 749-754.
    • (1993) BioEssays , vol.15 , pp. 749-754
    • Brierley, C.H.1    Burchell, B.2
  • 58
    • 0028791598 scopus 로고
    • Molecular biology of bilirubin metabolism
    • Boyer JL, Ockner RK, eds. Philadelphia: WB Saunders
    • [58] Jansen PLM, Roy Chowdhury J. Molecular biology of bilirubin metabolism. In: Boyer JL, Ockner RK, eds. Progress in liver diseases, Vol. 13. Philadelphia: WB Saunders, 1995; 125-150.
    • (1995) Progress in Liver Diseases , vol.13 , pp. 125-150
    • Jansen, P.L.M.1    Roy Chowdhury, J.2


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