메뉴 건너뛰기




Volumn 16, Issue 7, 2008, Pages 848-853

The Tunisian population history through the Crigler-Najjar type I syndrome

Author keywords

[No Author keywords available]

Indexed keywords

GLUCURONOSYLTRANSFERASE 1A1;

EID: 45849141290     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201989     Document Type: Article
Times cited : (14)

References (23)
  • 1
    • 0026701911 scopus 로고
    • A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isoenzymes with identical carboxyl termini
    • Ritter JK, Chen F, Sheen YY et al: A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isoenzymes with identical carboxyl termini. J Biol Chem 1992; 267: 3257-3261.
    • (1992) J Biol Chem , vol.267 , pp. 3257-3261
    • Ritter, J.K.1    Chen, F.2    Sheen, Y.Y.3
  • 2
    • 0034966656 scopus 로고    scopus 로고
    • Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus
    • Gong QH, Cho JW, Huang T et al: Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus. Pharmacogenetics 2001; 11: 357-368.
    • (2001) Pharmacogenetics , vol.11 , pp. 357-368
    • Gong, Q.H.1    Cho, J.W.2    Huang, T.3
  • 3
    • 33846442350 scopus 로고    scopus 로고
    • Regulation of the UGT1A1 bilirubin-conjugating pathway: Role of a new splicing event at the UGT1A locus
    • Lévesque E, Girard H, Journault K, Lépine J, Guillemette C: Regulation of the UGT1A1 bilirubin-conjugating pathway: Role of a new splicing event at the UGT1A locus. Hepatology 2007; 45: 128-138.
    • (2007) Hepatology , vol.45 , pp. 128-138
    • Lévesque, E.1    Girard, H.2    Journault, K.3    Lépine, J.4    Guillemette, C.5
  • 4
    • 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
    • Bosma PJ, Chowdhury NR, 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    Chowdhury, N.R.2    Goldhoorn, B.G.3
  • 5
    • 0026764632 scopus 로고
    • Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Naijar type I patient
    • 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-Naijar type I patient. J Clin Invest 1992b; 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
  • 6
    • 0033799997 scopus 로고    scopus 로고
    • Genetic lesions of bilirubin uridine-diphospho-glucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype
    • Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR: Genetic lesions of bilirubin uridine-diphospho-glucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: Correlation of genotype to phenotype. Hum Mutat 2000; 16: 297-306.
    • (2000) Hum Mutat , vol.16 , pp. 297-306
    • Kadakol, A.1    Ghosh, S.S.2    Sappal, B.S.3    Sharma, G.4    Chowdhury, J.R.5    Chowdhury, N.R.6
  • 7
    • 18344368430 scopus 로고    scopus 로고
    • Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene
    • Francoual J, Rivierre A, Mokrani C et al: Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene. Hum Mutat 2002; 19: 570-571.
    • (2002) Hum Mutat , vol.19 , pp. 570-571
    • Francoual, J.1    Rivierre, A.2    Mokrani, C.3
  • 8
    • 4344670750 scopus 로고    scopus 로고
    • Crigler-Naijar syndrome type 1 associated with combined 1070A>G, Q357R and (TA)7 mutation in Kuwaiti Bedouin families indicate a founder effect in Arabs
    • Koshy A, Bosma PJ, Oude-Elferink RP: Crigler-Naijar syndrome type 1 associated with combined 1070A>G, Q357R and (TA)7 mutation in Kuwaiti Bedouin families indicate a founder effect in Arabs. J Clin Gastroenterol 2004; 38: 465-467.
    • (2004) J Clin Gastroenterol , vol.38 , pp. 465-467
    • Koshy, A.1    Bosma, P.J.2    Oude-Elferink, R.P.3
  • 9
    • 0023853921 scopus 로고    scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN, Youssoufian H: The CpG dinucleotide and human genetic disease. Hum Genet 1998; 78: 151-155.
    • (1998) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 10
    • 0001761726 scopus 로고
    • The distribution of the sickle-cell trait in East Africa and elsewhere, and its apparent relationship to the incidence of subtertian malaria
    • Allison AC: The distribution of the sickle-cell trait in East Africa and elsewhere, and its apparent relationship to the incidence of subtertian malaria. Trans R Soc Trop Med Hyg 1954; 48: 312-318.
    • (1954) Trans R Soc Trop Med Hyg , vol.48 , pp. 312-318
    • Allison, A.C.1
  • 12
    • 0034535132 scopus 로고    scopus 로고
    • Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population
    • Colombo R, Bignamini AA, Carobene A et al: Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. Hum Genet 2000; 107: 559-567.
    • (2000) Hum Genet , vol.107 , pp. 559-567
    • Colombo, R.1    Bignamini, A.A.2    Carobene, A.3
  • 13
    • 0029150074 scopus 로고
    • A comparison of linkage disequilibrium. measures for fine-scale mapping
    • Delvin B, Risch N: A comparison of linkage disequilibrium. measures for fine-scale mapping. Genomics 1995; 29: 311-322.
    • (1995) Genomics , vol.29 , pp. 311-322
    • Delvin, B.1    Risch, N.2
  • 14
    • 0028819262 scopus 로고
    • Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
    • Risch N, de Leon D, Ozelius L et al: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995; 9: 152-159.
    • (1995) Nat Genet , vol.9 , pp. 152-159
    • Risch, N.1    de Leon, D.2    Ozelius, L.3
  • 15
    • 0028170575 scopus 로고
    • Genetic heterogeneity of Crigler-Najjar syndrome type I a study of 14 cases
    • Labrune P, Myara A, Hadchouel 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    Hadchouel, M.3
  • 16
    • 0031054718 scopus 로고    scopus 로고
    • Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I
    • Rosatelli MC, Meloni A, Faa V et al: Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I. J Med Genet 1997; 34: 122-125.
    • (1997) J Med Genet , vol.34 , pp. 122-125
    • Rosatelli, M.C.1    Meloni, A.2    Faa, V.3
  • 18
    • 0033771417 scopus 로고    scopus 로고
    • Gilbert syndrome: Analysis of the promoter region of the uridine diphosphate-glucuronosyltransferase 1 gene in the Greek population
    • Kavazarakis E, Tsezou A, Tzetis M et al: Gilbert syndrome: analysis of the promoter region of the uridine diphosphate-glucuronosyltransferase 1 gene in the Greek population. Eur J Pediatr 2000; 159: 873-874.
    • (2000) Eur J Pediatr , vol.159 , pp. 873-874
    • Kavazarakis, E.1    Tsezou, A.2    Tzetis, M.3
  • 19
    • 0036300303 scopus 로고    scopus 로고
    • Living-related liver transplantation for Crigler-Najjar syndrome in Saudi Arabia
    • Al Shurafa H, Wali S, Chehab MS et al: Living-related liver transplantation for Crigler-Najjar syndrome in Saudi Arabia. Clin Transplant 2002; 16: 222-226.
    • (2002) Clin Transplant , vol.16 , pp. 222-226
    • Al Shurafa, H.1    Wali, S.2    Chehab, M.S.3
  • 20
    • 9444275905 scopus 로고    scopus 로고
    • Allelic heterogeneity of Crigler-Najjar type I syndrome: A study of 24 cases
    • Petit FM, Gajdos V, Francoual J et al: Allelic heterogeneity of Crigler-Najjar type I syndrome: A study of 24 cases. Clin Genet 2004; 66: 571-572.
    • (2004) Clin Genet , vol.66 , pp. 571-572
    • Petit, F.M.1    Gajdos, V.2    Francoual, J.3
  • 21
    • 33748445757 scopus 로고    scopus 로고
    • The inverse association of elevated serum bilirubin levels with subclinical carotid atherosclerosis
    • Vitek L, Novotný L, Sperl M, Holaj R, Spácil J: The inverse association of elevated serum bilirubin levels with subclinical carotid atherosclerosis. Cerebrovasc Dis 2006; 21: 408-414.
    • (2006) Cerebrovasc Dis , vol.21 , pp. 408-414
    • Vitek, L.1    Novotný, L.2    Sperl, M.3    Holaj, R.4    Spácil, J.5
  • 23
    • 33845532124 scopus 로고    scopus 로고
    • Further evidence that the UGT1A1 28 allele is not associated with coronary heart disease: The ECTIM Study
    • Gajdos V, Petit FM, Perret C et al: Further evidence that the UGT1A1 28 allele is not associated with coronary heart disease: The ECTIM Study. Clin Chem 2006; 52: 2313-2314.
    • (2006) Clin Chem , vol.52 , pp. 2313-2314
    • Gajdos, V.1    Petit, F.M.2    Perret, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.