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| (especial para SIIC © Derechos reservados) |
| Carina De Fátima Rodrigues* Autora invitada por SIIC |
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 Profundizar Referencias bibliográficas |
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Deocharan, et al., Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type1, Am J Hum Genet. 62 (1998) 585-92. [6] A. Iolascon, A. Meloni, B. Coppola, M.C. Rosatelli, Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene, J Med Genet. 37 (2000) 712-713. [7] E. Costa, Hematologically important mutations: Bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes, Blood Cell Mol. Dis. 36 (2006) 77-80. [8] Q.H. Gong, J.W. Cho, T. Huang, et al., Thirteen UDPglucuronosyltransferase genes are encoded at the human UGT1 gene complex locus, Pharmacogenetics 11 (2001) 357-368. [9] P.J. Bosma, J.R. Chowdhury, C. Bakker, et al., The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert‘s syndrome, N. Engl. J. Med. 333 (1995) 1171-1185. [10] E. Beutler, T. Gelbart, A. Bemina, Racial variability in the UDPglucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?, Proc. Nat.l Acad. Sci. USA. 95 (1998) 8170-8174. [11] Y. Maruo, C. D'Addario, A. Mori, et al., Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide, Drug. Metab. Dispos. 33 (2005) 458-465. [12] Y. Maruo, C. D'Addario, A. Mori, et al., Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene, Dig. Liver Dis. 39 (2007) 351-355. [13] J. Sugatani, K. Yamakawa, K. Yoshinari, et al., Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia, Biochem. Biophys. Res. Commun. 292 (2002) 492-497. [14] Y. Maruo, C. D'Addario, A. Mori, et al., Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert Syndrome, Hum. Genet. 115 (2004) 525-526. [15] V. Servedio, M. d'Apolito, N. Maiorano, et al., A polymorphic mutation, c.-3279T>G, in the UGT1A1 promoter is a risk factor for neonatal jaundice in the Malay population, Pediatr. Res. 67 (2010) 401-406. [16] E. Costa, E. Vieira, R. dos Santos, The polymorphism c.-3279T>G in the phenobarbital-responsive enhancer module of the bilirubin UDP-glucuronosyltransferase gene is associated with Gilbert syndrome, Clin. Chem. 51 (2005) 2204-2206. [17] M. Sanpietro, A. Iolascon, Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes, Haematologica. 84 (1999) 150-157. [18] D.G. Nathan, S.H. Orking, N. Oski’s, Haematology of Infancy and Childhood, 5th edition, RWB Sanders Company, Philadelphia, 1998, pp. 103-146. [19] S.A. Miller, D.D. Dykes, H.F..Polesky, A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res. 16 (1988) 1215. [20] E. Costa, E. Vieira, M. Martins, et al., Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes, Blood Cells Mol. Dis. 36 (2006) 91-97. [21] J.D. Bancroft, B. Kreamer, G.R. Gourley, Gilbert syndrome accelerates development of neonatal jaundice, J. Pediat. 132 (1998) 656-660. [22] V Ramensky, P. Bork, S. Sunyaev, Human non-synonymous SNPs: server and survey, Nucleic Acids Res. 30 (2002) 3894-3900. [23] P.C. Ng, S. Henikoff, SIFT. Predicting amino acid changes that affect protein function, Nucleic Acids Res. 31 (2003) 3812-3814. [24] S.V. Tavtigian, A.M. Deffenbaugh, L. Yin, et al., Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral, J. Med. Genet. 43 (2006) 295-305. [25] R. Grantham, Amino acid difference formula to help explain protein evolution, Science 185 (1985) 862-864. [26] S. Henikoff, J.G. Henikoff, Position-based sequence weights, J. Mol. Biol. 243 (1994) 574-578. [27] T.R. Gaunt, S. Rodriguez, I.N. Day, Cubic exact solutions for the estimation of pairwise haplotype frequencies: implications for linkage disequilibrium analyses and a web tool ‘CubeX’, BMC Bioinf. 8 (2007) 428-436. [28] T. Erps, J.K. Ritter, J.H. Hersh, et al., 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. [29] C. Rodrigues, E. Costa, E. Vieira, et al., Bilirubin is mainly dependent on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index, Am. J. Med. Sci. (2011) in press. [30] K. Borucki, C. Weikert, E. Fisher, et al., Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers, Clin. Biochem. 42 (2009) 1635-1641. [31] F. Innocenti, C. Grimsley, S. Das, J et al., Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups, Pharmacogenetics 12 (2002) 725-733. [32] M. Jirsa, J. Petrasek, L. Vitek, Linkage between A(TA)7TAA and -3279TNG mutations in UGT1A1 is not essential for pathogenesis of Gilbert syndrome, Liver Int. 26 (2006) 1302-1303. [33] A. Ferraris, G. D'Amato, V. Nobili, et al., Combined test for UGT1A1-3279TNG and A(TA)nTAA polymorphisms best predicts Gilbert's syndrome in Italian pediatric patients, Genet Test. 10 (2006) 121-125. [34] K. Matsui, Y. Maruo, H. Sato, Y. Takeuchi, Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome, BMC, Gastroenterol. 10 (2010) 57-68. [35] N. Kaniwa, K. Kurose, H. Jinno, et al., Racial variability in haplotype frequencies of UGT1A1 and glucuronidation activity of a novel single nucleotide polymorphism 686CNT (P229L) found in an African-American, Drug Metab. Dispos. 33 (2005) 458-465. [36] H. Sato, Y. Adachi, O. Koiwai, The genetic basis of Gilbert's syndrome, Lancet 34 (1996) 557-558. [37] P. Labrune, A. Myara, J. et al., Association of a homozygous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome, Hum. Mutat. 20 (2002) 399-401. [38] V. Servedio, M. d'Apolito, N. Maiorano, et al., Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: Identification of twelve novel alleles and genotype-phenotype correlation, Hum. Mutat. 25 (2005) 325-334. [39] S.V. Tavtigan, M.S. Greenblatt, F. Lesueur, et al., In silico analysis of missense substitutions using sequence-alignment based methods, Hum. Mutat. 29 (2008) 1327-1336. [40] Y.M. Di, E. Chan, M.Q. Wei, Liu JP, et al., Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes, AAPS J. 11 (2009) 469-480. |
| Otros artículos de Carina De Fátima Rodrigues |
| C. Rodrigues, E. Costa, E. Vieira, et al., in press. Bilirubin is mainly dependent on UGT1A1 polymorphisms, hemoglobin, fasting time and body mass index, Am. J. Med. Sci.Am J Med Sci. 2012(2):114-8. |
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Acerca del trabajo completo |
| VARIANTES NO GENE UGT1A1 QUE CONDICIONAM OS NÍVEIS DE BILIRRUBINA |
| Título original en castellano IMPORTÂNCIA DAS VARIANTES DO GENE UGT1A1 NOS NÍVEIS TOTAIS DE BILIRRUBINA EM DOENTES COM SÍNDROMA DE GILBERT E INDIVÍDUOS SAUDÁVEIS |
| Autores Carina De Fátima Rodrigues1, Emília Vieira2, Rosário Santos3, João Carvalho4, Alice Santos-Silva5, Elísio Costa6, Elsa Bronze-Da-rocha7 |
| 1 Professora, Instituto Politécnico de Bragança, Assistente 2 Técnica de Diagnóstico e Terap, Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães Insarj, Porto, Portugal, Técnica 3 Genéticista, Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães Insarj, Porto, Portugal, Chefe da Unidade 4 Médico, Serviço de Gastrenterologia, Centro Hospitalar de Vila Nova de Gaia, Portugal, Médico Especialista 5 Professora, Departamento de Ciências Biológicas, Laboratório de Bioquímica, Faculdade de Farmácia da Universidade Do Porto, Portugal e Instituto de Biologia Molecular e Celular da Universidade Do Porto, Portugal, Professor Associado 6 Professor, Instituto de Ciências da Saúde da Universidade Católica Do Porto, Portugal, Professor Auxiliar 7 Professora, Instituto de Biologia Molecular e Celular da Universidade Do Porto, Portugal e Instituto de Biologia Molecular e Celular da Universidade Do Porto, Portugal e Instituto de Biologia Molecular e Celular da Universidade Do Porto, Portugal, Professor Auxiliar |
| Acceso a la fuente original Blood Cells, Molecules & Diseases |
| http://www.elsevier.com/wps/find/journaldescription.cws_home/622796/description#description |
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Acceso al resumen/abstract original |
| El artículo se relaciona estrictamente con las especialidades de siicsalud | |
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