Splice-Site Mutations: A Novel Genetic Mechanism of Crigler-Najjar Syndrome Type 1
Tài liệu tham khảo
Arias, 1969, Chronic non-hemolytic unconjugated hyperbilirubinemia with glucuronyltransferase deficiency, Am J Med, 47, 395, 10.1016/0002-9343(69)90224-1
Bosma, 1992, Sequence of exons and the flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with the Crigler-Najjar syndrome type I, Hepatology, 15, 941, 10.1002/hep.1840150531
Bosma, 1992, Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome type I, FASEB J, 6, 2859, 10.1096/fasebj.6.10.1634050
Bosma, 1994, Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man, J Biol Chem, 269, 17960, 10.1016/S0021-9258(17)32403-1
Chomczynski, 1987, Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction, Anal Biochem, 162, 156, 10.1016/0003-2697(87)90021-2
Crigler, 1952, Congenital familial non-hemolytic jaundice with kernicterus, Pediatrics, 10, 169
Dutton, 1980
Goldsmith, 1983, Silent nucleotide substitution in a β-thalassaemia globin gene activates splice site in coding sequence RNA, Proc Natl Acad Sci USA, 80, 2318, 10.1073/pnas.80.8.2318
Krawczak, 1992, The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences, Hum Genet, 90, 41, 10.1007/BF00210743
Labrune, 1994, Genetic heterogeneity of Crigler-Najjar syndrome type 1: a study of 14 cases, Hum Genet, 94, 693, 10.1007/BF00206965
Lerner, 1980, Are snRNPs involved in splicing?, Nature, 283, 220, 10.1038/283220a0
Mackenzie, 1997, The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence, Pharmacogenetics, 7, 255, 10.1097/00008571-199708000-00001
Moghrabi, 1993, Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2, Genomics, 18, 171, 10.1006/geno.1993.1451
Moghrabi, 1993, Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type 1: implication in carrier detection and prenatal diagnosis, Am J Hum Genet, 53, 722
Orkin, 1984, Abnormal processing of βKnossos RNA, Blood, 64, 311, 10.1182/blood.V64.1.311.311
Orkin, 1982, Abnormal RNA processing due to the exon mutation of beta-E globin gene, Nature, 300, 768, 10.1038/300768a0
Ritter, 1992, A novel complex locus, UGT1, encodes human bilirubin, phenol and other UDP-glucuronosyltransferase isoenzymes with identical carboxytermini, J Biol Chem, 267, 3257, 10.1016/S0021-9258(19)50724-4
Ritter, 1992, Identification of a genetic alteration in the code for bilirubin-UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar syndrome type 1 patient, J Clin Invest, 90, 150, 10.1172/JCI115829
Rogers, 1980, A mechanism for RNA splicing, Proc Natl Acad Sci USA, 77, 1877, 10.1073/pnas.77.4.1877
Roy Chowdhury, 1985, Distribution of uridine diphosphoglucuronate glucuronosyl transferase in rat tissues, Proc Natl Acad Sci USA, 82, 2990, 10.1073/pnas.82.9.2990
Schmidt, 1958, Congenital jaundice in rats, due to a defect in glucuronide formation, J Clin Invest, 37, 1123, 10.1172/JCI103702
Seppen, 1994, Discrimination between Crigler-Najjar syndrome type I and type II by expression of mutant bilirubin uridinediphosphoglucuronate glucuronosyltransferase, J Clin Invest, 94, 2385, 10.1172/JCI117604
Steitz, 1988, Functions of the abundant U-sn RNPs, 115
Treisman, 1983, Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes, Nature, 302, 591, 10.1038/302591a0
Yamada, 1995, Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5′-splice site, Hum Mol Genet, 4, 651, 10.1093/hmg/4.4.651
Roy Chowdhury, 1986, Disorders of bilirubin conjugation, 317