261 related articles for article (PubMed ID: 1568736)
1. 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; Hofker MH; Oude Elferink RP; Jansen PL; Chowdhury JR
Hepatology; 1992 May; 15(5):941-7. PubMed ID: 1568736
[TBL] [Abstract][Full Text] [Related]
2. Altered coding for a strictly conserved di-glycine in the major bilirubin UDP-glucuronosyltransferase of a Crigler-Najjar type I patient.
Ciotti M; Yeatman MT; Sokol RJ; Owens IS
J Biol Chem; 1995 Feb; 270(7):3284-91. PubMed ID: 7852413
[TBL] [Abstract][Full Text] [Related]
3. A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.
Ritter JK; Yeatman MT; Kaiser C; Gridelli B; Owens IS
J Biol Chem; 1993 Nov; 268(31):23573-9. PubMed ID: 8226884
[TBL] [Abstract][Full Text] [Related]
4. Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.
Bosma PJ; Chowdhury JR; Huang TJ; Lahiri P; Elferink RP; Van Es HH; Lederstein M; Whitington PF; Jansen PL; Chowdhury NR
FASEB J; 1992 Jul; 6(10):2859-63. PubMed ID: 1634050
[TBL] [Abstract][Full Text] [Related]
5. Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
Ritter JK; Yeatman MT; Ferreira P; Owens IS
J Clin Invest; 1992 Jul; 90(1):150-5. PubMed ID: 1634606
[TBL] [Abstract][Full Text] [Related]
6. Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.
Maruo Y; Poon KK; Ito M; Iwai M; Takahashi H; Mori A; Sato H; Takeuchi Y
Clin Genet; 2003 Nov; 64(5):420-3. PubMed ID: 14616765
[TBL] [Abstract][Full Text] [Related]
7. A new type of defect in the gene for bilirubin uridine 5'-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I.
Aono S; Yamada Y; Keino H; Sasaoka Y; Nakagawa T; Onishi S; Mimura S; Koiwai O; Sato H
Pediatr Res; 1994 Jun; 35(6):629-32. PubMed ID: 7936809
[TBL] [Abstract][Full Text] [Related]
8. Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.
Gantla S; Bakker CT; Deocharan B; Thummala NR; Zweiner J; Sinaasappel M; Roy Chowdhury J; Bosma PJ; Roy Chowdhury N
Am J Hum Genet; 1998 Mar; 62(3):585-92. PubMed ID: 9497253
[TBL] [Abstract][Full Text] [Related]
9. Three Japanese patients with Crigler-Najjar syndrome type I carry an identical nonsense mutation in the gene for UDP-glucuronosyltransferase.
Koiwai O; Yasui Y; Hasada K; Aono S; Sato H; Fujikake M; Aoki T
Jpn J Hum Genet; 1995 Sep; 40(3):253-7. PubMed ID: 8527799
[No Abstract] [Full Text] [Related]
10. Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
Aono S; Yamada Y; Keino H; Hanada N; Nakagawa T; Sasaoka Y; Yazawa T; Sato H; Koiwai O
Biochem Biophys Res Commun; 1993 Dec; 197(3):1239-44. PubMed ID: 8280139
[TBL] [Abstract][Full Text] [Related]
11. The novel UGT1 gene complex links bilirubin, xenobiotics, and therapeutic drug metabolism by encoding UDP-glucuronosyltransferase isozymes with a common carboxyl terminus.
Owens IS; Ritter JK; Yeatman MT; Chen F
J Pharmacokinet Biopharm; 1996 Oct; 24(5):491-508. PubMed ID: 9131487
[TBL] [Abstract][Full Text] [Related]
12. Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.
Yamamoto K; Soeda Y; Kamisako T; Hosaka H; Fukano M; Sato H; Fujiyama Y; Adachi Y; Satoh Y; Bamba T
J Hum Genet; 1998; 43(2):111-4. PubMed ID: 9621515
[TBL] [Abstract][Full Text] [Related]
13. Genetic defects at the UGT1 locus associated with Crigler-Najjar type I disease, including a prenatal diagnosis.
Ciotti M; Obaray R; MartÃn MG; Owens IS
Am J Med Genet; 1997 Jan; 68(2):173-8. PubMed ID: 9028453
[TBL] [Abstract][Full Text] [Related]
14. Bilirubin UDP-glucuronosyltransferase 1 is the only relevant bilirubin glucuronidating isoform in man.
Bosma PJ; Seppen J; Goldhoorn B; Bakker C; Oude Elferink RP; Chowdhury JR; Chowdhury NR; Jansen PL
J Biol Chem; 1994 Jul; 269(27):17960-4. PubMed ID: 8027054
[TBL] [Abstract][Full Text] [Related]
15. A novel missense mutation of the bilirubin UDP-glucuronosyltransferase gene in a Turkish patient with Crigler-Najjar syndrome type 1.
Maruo Y; Serdaroglu E; Iwai M; Takahashi H; Mori A; Bak M; Calkavur S; Sato H; Takeuchi Y
J Pediatr Gastroenterol Nutr; 2003 Nov; 37(5):627-30. PubMed ID: 14581810
[No Abstract] [Full Text] [Related]
16. Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.
Rosatelli MC; Meloni A; Faa V; Saba L; Crisponi G; Clemente MG; Meloni G; Piga MT; Cao A
J Med Genet; 1997 Feb; 34(2):122-5. PubMed ID: 9039987
[TBL] [Abstract][Full Text] [Related]
17. Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
Costa E
Blood Cells Mol Dis; 2006; 36(1):77-80. PubMed ID: 16386929
[TBL] [Abstract][Full Text] [Related]
18. Retrovirus-mediated expression of HUG Br1 in Crigler-Najjar syndrome type I human fibroblasts and correction of the genetic defect in Gunn rat hepatocytes.
Askari F; Hitomi E; Thiney M; Wilson JM
Gene Ther; 1995 May; 2(3):203-8. PubMed ID: 7614251
[TBL] [Abstract][Full Text] [Related]
19. Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.
Servedio V; d'Apolito M; Maiorano N; Minuti B; Torricelli F; Ronchi F; Zancan L; Perrotta S; Vajro P; Boschetto L; Iolascon A
Hum Mutat; 2005 Mar; 25(3):325. PubMed ID: 15712364
[TBL] [Abstract][Full Text] [Related]
20. [Genetic defect of the hyperbilirubinemic Gunn rat, a model for Crigler-Najjar syndrome type I].
Sato H; Aono S; Koiwai O
Nihon Rinsho; 1993 Feb; 51(2):501-6. PubMed ID: 8096554
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]