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Volumn 36, Issue 1, 2006, Pages 91-97

Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes

Author keywords

Crigler Najjar syndrome; Gilbert syndrome; Hyperbilirubinemia; Mutations; UGT1A1

Indexed keywords

DNA FRAGMENT; GLUCURONOSYLTRANSFERASE; PRIMER DNA;

EID: 30344450837     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2005.09.002     Document Type: Article
Times cited : (34)

References (39)
  • 1
    • 0005026640 scopus 로고
    • Some aspects of the bile pigment metabolism
    • R. Schmid Some aspects of the bile pigment metabolism Clin. Chem. 3 1957 394 400
    • (1957) Clin. Chem. , vol.3 , pp. 394-400
    • Schmid, R.1
  • 2
    • 0002679775 scopus 로고
    • Direct-reacting bilirubin glucuronide, in serum, bile, and urine
    • R. Schmid Direct-reacting bilirubin glucuronide, in serum, bile, and urine Science 124 1956 76 77
    • (1956) Science , vol.124 , pp. 76-77
    • Schmid, R.1
  • 3
    • 0001140275 scopus 로고
    • The excretion of bilirubin as diglucuronide giving the direct van den Bergh reaction
    • B.H. Biling, P.G. Cole, and G.H. Lathe The excretion of bilirubin as diglucuronide giving the direct van den Bergh reaction Biochem. J. 65 1957 774 784
    • (1957) Biochem. J. , vol.65 , pp. 774-784
    • Biling, B.H.1    Cole, P.G.2    Lathe, G.H.3
  • 6
    • 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
    • P.J. Bosma, N.R. Chowdhury, and B.G. Goldhoorn 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 15 1992 941 947
    • (1992) Hepatology , vol.15 , pp. 941-947
    • Bosma, P.J.1    Chowdhury, N.R.2    Goldhoorn, B.G.3
  • 7
    • 0028867826 scopus 로고
    • The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome
    • P.J. Bosma, J.R. Chowdhury, C. Bakker, and S. Gantla The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome N. Engl. J. Med. 333 1995 1171 1175
    • (1995) N. Engl. J. Med. , vol.333 , pp. 1171-1175
    • Bosma, P.J.1    Chowdhury, J.R.2    Bakker, C.3    Gantla, S.4
  • 8
    • 0032847365 scopus 로고    scopus 로고
    • Molecular genetic basis of Gilbert's syndrome
    • B. Burchell, and R. Hume Molecular genetic basis of Gilbert's syndrome J. Gastroenterol. Hepatol. 14 1999 960 966
    • (1999) J. Gastroenterol. Hepatol. , vol.14 , pp. 960-966
    • Burchell, B.1    Hume, R.2
  • 9
    • 0032493441 scopus 로고    scopus 로고
    • Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: A balanced polymorphism for regulation of bilirubin metabolism?
    • E. Beutler, T. Gelbart, and A. Demina Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc. Natl. Acad. Sci. U. S. A. 95 1998 8170 8174
    • (1998) Proc. Natl. Acad. Sci. U. S. A. , vol.95 , pp. 8170-8174
    • Beutler, E.1    Gelbart, T.2    Demina, A.3
  • 10
    • 0032860652 scopus 로고    scopus 로고
    • Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndrome
    • M. Sampietro, and A. Iolascon Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndrome Haematologica 84 1999 150 157
    • (1999) Haematologica , vol.84 , pp. 150-157
    • Sampietro, M.1    Iolascon, A.2
  • 11
    • 0001484712 scopus 로고
    • Bilirubin glucuronide formation in vitro; Demonstration of a defect in Gilbert's disease
    • I.M. Arias, and I.M. London Bilirubin glucuronide formation in vitro; demonstration of a defect in Gilbert's disease Science 126 1957 563 564
    • (1957) Science , vol.126 , pp. 563-564
    • Arias, I.M.1    London, I.M.2
  • 12
    • 0014664802 scopus 로고
    • Hepatic bilirubin UDP-glucuronosyltransferase activity in liver disease and Gilbert's syndrome
    • M. Black, and B.H. Billing Hepatic bilirubin UDP-glucuronosyltransferase activity in liver disease and Gilbert's syndrome N. Engl. J. Med. 280 1969 1266 1271
    • (1969) N. Engl. J. Med. , vol.280 , pp. 1266-1271
    • Black, M.1    Billing, B.H.2
  • 14
    • 0016784220 scopus 로고
    • Population studies on Gilbert's syndrome
    • D. Owens, and J. Evans Population studies on Gilbert's syndrome J. Med. Genet. 12 1975 152 156
    • (1975) J. Med. Genet. , vol.12 , pp. 152-156
    • Owens, D.1    Evans, J.2
  • 15
    • 0033054393 scopus 로고    scopus 로고
    • Contribution of the TATA-box genotype (Gilbert syndrome) to serum bilirubin concentrations in Italian population
    • M.L. Biondi, O. Turri, D. Dilillo, G. Stival, and E. Guagnellini Contribution of the TATA-box genotype (Gilbert syndrome) to serum bilirubin concentrations in Italian population Clin. Chem. 45 1999 897 898
    • (1999) Clin. Chem. , vol.45 , pp. 897-898
    • Biondi, M.L.1    Turri, O.2    Dilillo, D.3    Stival, G.4    Guagnellini, E.5
  • 16
    • 0033961560 scopus 로고    scopus 로고
    • Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome
    • D. Pirulli, M. Giordano, D. Puzzer, S. Crovella, I. Rigato, and C. Tiribelli Rapid method for detection of extra (TA) in the promoter of the bilirubin-UDP-glucuronosyl transferase 1 gene associated with Gilbert syndrome Clin. Chem. 46 2000 129 131
    • (2000) Clin. Chem. , vol.46 , pp. 129-131
    • Pirulli, D.1    Giordano, M.2    Puzzer, D.3    Crovella, S.4    Rigato, I.5    Tiribelli, C.6
  • 17
    • 0036546068 scopus 로고    scopus 로고
    • TATA-box polymorphism in the uridine diphosphate glucuronosyl transferase gene in Portuguese patients with a clinical diagnosis of Gilbert's syndrome
    • E. Costa, E. Vieira, and E. Santos-Siva TATA-box polymorphism in the uridine diphosphate glucuronosyl transferase gene in Portuguese patients with a clinical diagnosis of Gilbert's syndrome Haematologica 87 04 2002 ELT21
    • (2002) Haematologica , vol.87 , Issue.4 , pp. 21
    • Costa, E.1    Vieira, E.2    Santos-Siva, E.3
  • 18
    • 0031423835 scopus 로고    scopus 로고
    • Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome
    • H. Ueyama, O. Koiwai, Y. Soeda, H. Sato, Y. Satoh, I. Ohkubo, and Y. Doida Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert's syndrome Hepatol. Res. 9 1997 152 163
    • (1997) Hepatol. Res. , vol.9 , pp. 152-163
    • Ueyama, H.1    Koiwai, O.2    Soeda, Y.3    Sato, H.4    Satoh, Y.5    Ohkubo, I.6    Doida, Y.7
  • 19
    • 0030900812 scopus 로고    scopus 로고
    • Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert type genetic defect
    • N. Chalasani, N.R. Chowdhury, J.R. Chowdhury, and T.D. Boyer Kernicterus in an adult who is heterozygous for Crigler-Najjar syndrome and homozygous for Gilbert type genetic defect Gastroenterology 112 1997 2099 2103
    • (1997) Gastroenterology , vol.112 , pp. 2099-2103
    • Chalasani, N.1    Chowdhury, N.R.2    Chowdhury, J.R.3    Boyer, T.D.4
  • 20
    • 0031616354 scopus 로고    scopus 로고
    • Analysis of bilirubin uridine 5′-diphosphate (UDP)- glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II
    • K. Yamamoto, Y. Soeda, and T. Kamisako Analysis of bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II J. Hum. Genet. 43 1998 111 114
    • (1998) J. Hum. Genet. , vol.43 , pp. 111-114
    • Yamamoto, K.1    Soeda, Y.2    Kamisako, T.3
  • 21
    • 3042766499 scopus 로고    scopus 로고
    • A new case of (TA)8 allele in the UGTA1 gene promoter in a Caucasian girl with Gilbert's syndrome
    • H. Coelho, E. Costa, E. Vieira, R. Branca, R. dos Santos, and J. Barbot A new case of (TA)8 allele in the UGTA1 gene promoter in a Caucasian girl with Gilbert's syndrome Pediatr. Hematol. Oncol. 21 2004 371 374
    • (2004) Pediatr. Hematol. Oncol. , vol.21 , pp. 371-374
    • Coelho, H.1    Costa, E.2    Vieira, E.3    Branca, R.4    Dos Santos, R.5    Barbot, J.6
  • 23
    • 0242362227 scopus 로고    scopus 로고
    • Thalassemia minor, the Gilbert mutation, and risk of gallstones
    • C. Borgna-Pignatti, F. Rigon, and L. Merlo Thalassemia minor, the Gilbert mutation, and risk of gallstones Haematologica 88 2003 1106 1109
    • (2003) Haematologica , vol.88 , pp. 1106-1109
    • Borgna-Pignatti, C.1    Rigon, F.2    Merlo, L.3
  • 24
    • 0034760144 scopus 로고    scopus 로고
    • Influence of bilirubin uridine diphosphate glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and colelithiasis in children with sickle cell anemia
    • R.G. Passon, T.A. Howard, S.A. Zimmerman, W.H. Schultz, and R.E. Ware Influence of bilirubin uridine diphosphate glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and colelithiasis in children with sickle cell anemia J. Pediatr. Hematol. Oncol. 23 2001 448 451
    • (2001) J. Pediatr. Hematol. Oncol. , vol.23 , pp. 448-451
    • Passon, R.G.1    Howard, T.A.2    Zimmerman, S.A.3    Schultz, W.H.4    Ware, R.E.5
  • 25
    • 0034686969 scopus 로고    scopus 로고
    • Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible
    • M. Kaplan, C. Hammarman, P. Renbaum, G. Klein, and E. Levy-Lahad Gilbert's syndrome and hyperbilirubinaemia in ABO-incompatible Lancet 356 2000 652 653
    • (2000) Lancet , vol.356 , pp. 652-653
    • Kaplan, M.1    Hammarman, C.2    Renbaum, P.3    Klein, G.4    Levy-Lahad, E.5
  • 27
    • 0036869792 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome
    • E. Costa, E. Vieira, and E. Cleto Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome Acta Med. Port. 15 2002 409 412
    • (2002) Acta Med. Port. , vol.15 , pp. 409-412
    • Costa, E.1    Vieira, E.2    Cleto, E.3
  • 29
    • 0008435402 scopus 로고    scopus 로고
    • Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis
    • E.M. Giudice, S. Perrota, B. Nobili, C. Specchia, G. d'Urzo, and A. Iolascon Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis Blood 94 1999 2259 2262
    • (1999) Blood , vol.94 , pp. 2259-2262
    • Giudice, E.M.1    Perrota, S.2    Nobili, B.3    Specchia, C.4    D'Urzo, G.5    Iolascon, A.6
  • 30
    • 0031566815 scopus 로고    scopus 로고
    • Sherocytosis, splenectomy, stroke, and heart attacks
    • R.F. Schilling Sherocytosis, splenectomy, stroke, and heart attacks Lancet 350 1997 1677 1678
    • (1997) Lancet , vol.350 , pp. 1677-1678
    • Schilling, R.F.1
  • 31
    • 0036943589 scopus 로고    scopus 로고
    • Influence of Gilbert's syndrome on serum bilirubin levels and gallstone formation in children with chronic hemolytic disease
    • E. Costa, R. Pinto, and E. Vieira Influence of Gilbert's syndrome on serum bilirubin levels and gallstone formation in children with chronic hemolytic disease An. Esp. Pediatr. 57 2002 529 533
    • (2002) An. Esp. Pediatr. , vol.57 , pp. 529-533
    • Costa, E.1    Pinto, R.2    Vieira, E.3
  • 32
    • 0031949264 scopus 로고    scopus 로고
    • Gilbert syndrome accelerates development of neonatal jaundice
    • J.D. Bancroft, B. Kreamer, and G.R. Gourley Gilbert syndrome accelerates development of neonatal jaundice J. Pediatr. 132 1998 656 660
    • (1998) J. Pediatr. , vol.132 , pp. 656-660
    • Bancroft, J.D.1    Kreamer, B.2    Gourley, G.R.3
  • 34
    • 0032880196 scopus 로고    scopus 로고
    • (TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome
    • A. Iolascon, M.F. Faienza, M. Centra, and S. Storelli (TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome Haematologica 84 1999 106 109
    • (1999) Haematologica , vol.84 , pp. 106-109
    • Iolascon, A.1    Faienza, M.F.2    Centra, M.3    Storelli, S.4
  • 35
    • 0034085045 scopus 로고    scopus 로고
    • A Caucasian boy with Gilbet's syndrome heterozygous for the (TA)8 allele
    • A. Tsezou, M. Tzetis, and S. Kitsiou A Caucasian boy with Gilbet's syndrome heterozygous for the (TA)8 allele Haematologica 85 2000 319
    • (2000) Haematologica , vol.85 , pp. 319
    • Tsezou, A.1    Tzetis, M.2    Kitsiou, S.3
  • 36
    • 0028208939 scopus 로고
    • Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro
    • L.T. Erps, J.K. Ritter, J.H. Hersh, D. Blossom, N.C. Martin, and I.S. Owens Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro J. Clin. Invest. 93 1994 564 570
    • (1994) J. Clin. Invest. , vol.93 , pp. 564-570
    • Erps, L.T.1    Ritter, J.K.2    Hersh, J.H.3    Blossom, D.4    Martin, N.C.5    Owens, I.S.6
  • 37
    • 0033832351 scopus 로고    scopus 로고
    • Crigler Najjar type II due to three different mutations in the bilirubin uridine 5′-diphosphate glucuronosyltransferase (UGT1A) gene
    • A. Iolascon, A. Meloni, B. Coppola, and M.C. Rosatelli Crigler Najjar type II due to three different mutations in the bilirubin uridine 5′-diphosphate glucuronosyltransferase (UGT1A) gene J. Med. Genet. 37 2000 712 713
    • (2000) J. Med. Genet. , vol.37 , pp. 712-713
    • Iolascon, A.1    Meloni, A.2    Coppola, B.3    Rosatelli, M.C.4
  • 38
    • 0031686082 scopus 로고    scopus 로고
    • Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease
    • M. Ciotti, F. Chen, F.F. Rubaltelli, and I.S. Owens Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease Biochim. Biophys. Acta 1407 1998 40 50
    • (1998) Biochim. Biophys. Acta , vol.1407 , pp. 40-50
    • Ciotti, M.1    Chen, F.2    Rubaltelli, F.F.3    Owens, I.S.4
  • 39
    • 0033799997 scopus 로고    scopus 로고
    • Genetic lesions of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype
    • A. Kadakol, S.S. Ghosh, B.S. Sappal, G. Sharma, J.R. Chowdhury, and N.R. Chowdhury Genetic lesions of bilirubin uridine diphosphate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype Hum. Mutat. 16 2000 297 307
    • (2000) Hum. Mutat. , vol.16 , pp. 297-307
    • Kadakol, A.1    Ghosh, S.S.2    Sappal, B.S.3    Sharma, G.4    Chowdhury, J.R.5    Chowdhury, N.R.6


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