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Genetic defects at the UGT1 locus associated with Crigler-Najjar type I disease, including a prenatal diagnosis

Autor: M, Ciotti, R, Obaray, M G, Martín, I S, Owens

Publikováno v: American journal of medical genetics. 68(2)

Characterization of the UGT1 gene complex locus encoding both multiple bilirubin and phenol UDP-glucuronosyltransferases (transferases) has been critical in identifying mutations in the bilirubin isoforms. This study utilizes this information to iden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5d450e5b19744fd5860479c9712c3596
https://pubmed.ncbi.nlm.nih.gov/9028453

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Gene structure at the human UGT1 locus creates diversity in isozyme structure, substrate specificity, and regulation

Autor: I S, Owens, J K, Ritter

Publikováno v: Progress in nucleic acid research and molecular biology. 51

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a32c914786c810c2a9184a8b19c50e6c
https://pubmed.ncbi.nlm.nih.gov/7659777

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Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro

Autor: L T Erps, D Blossom, J H Hersh, I S Owens, J K Ritter, N C Martin

Publikováno v: The Journal of clinical investigation. 93(2)

Accumulating evidence indicates that mutations in the human UGT1 gene locus abolish hepatic bilirubin UDP-glucuronosyltransferase activity and cause the subsequent accumulation of bilirubin to toxic levels in patients with Crigler-Najjar type 1 (CN-I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f22498c80c78502d611d1353bd79b14e
https://pubmed.ncbi.nlm.nih.gov/7906695

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A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase

Autor: J K, Ritter, M T, Yeatman, C, Kaiser, B, Gridelli, I S, Owens

Publikováno v: The Journal of biological chemistry. 268(31)

The characterization (Ritter, J. K., Chen, F., Sheen, Y. Y., Tran, H. M., Kimura, S., Yeatman, M. T., and Owens, I. S. (1992) J. Biol. Chem. 267, 3257-3261) of the single-copy UGT1 gene complex encoding both bilirubin and phenol UDP-glucuronosyltrans

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::87189824bde1b2d254e7d3879d07c471
https://pubmed.ncbi.nlm.nih.gov/8226884

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Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient

Autor: I S Owens, Matthew T. Yeatman, Joseph K. Ritter, P Ferreira

Publikováno v: The Journal of clinical investigation. 90(1)

Patients with Crigler-Najjar syndrome (CN) type I inherit an autosomal recessive trait for hyperbilirubinemia, which is characterized by the total absence of bilirubin UDP-glucuronosyltransferase (transferase) activity. The recent identification of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12b2120a2f612005c2426ff2abbb8a31
https://pubmed.ncbi.nlm.nih.gov/1634606

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A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini

Autor: J K, Ritter, F, Chen, Y Y, Sheen, H M, Tran, S, Kimura, M T, Yeatman, I S, Owens

Publikováno v: The Journal of biological chemistry. 267(5)

Two human liver UDP-glucuronosyltransferase (transferase) cDNAs, HUG-Br1 and HUG-Br2, were previously isolated (Ritter, J. K., Crawford, J. M., and Owens, I. S. (1991) J. Biol. Chem. 266, 1043-1047), and each was shown to encode a bilirubin transfera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::493a0808ad1c88428ee298d0f74f33ad
https://pubmed.ncbi.nlm.nih.gov/1339448

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Cloning of two human liver bilirubin UDP-glucuronosyltransferase cDNAs with expression in COS-1 cells

Autor: J K, Ritter, J M, Crawford, I S, Owens

Publikováno v: The Journal of biological chemistry. 266(2)

We report the isolation and characterization of two human liver cDNA clones, HUG-Br1 and HUG-Br2; each encodes a UDP-glucuronosyltransferase enzyme which glucuronidates bilirubin IX alpha to form both the IX alpha C8 and IX alpha C12 monoconjugates a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2ae59aebcaeb6045f65031f6e84b158c
https://pubmed.ncbi.nlm.nih.gov/1898728

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Cloning and expression of human liver UDP-glucuronosyltransferase in COS-1 cells. 3,4-catechol estrogens and estriol as primary substrates

Autor: J K, Ritter, Y Y, Sheen, I S, Owens

Publikováno v: The Journal of biological chemistry. 265(14)

The human cDNA clone, UDPGTh-2, encoding a liver UDP-glucuronosyltransferase (transferase) was isolated from a lambda gt11 cDNA library by hybridization to the mouse transferase cDNA clone, UDPGTm-1 (Kimura, T., and Owens, I. S. (1987) Eur. J. Bioche

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b7576e1b27582a2ab1b64d44987c685
https://pubmed.ncbi.nlm.nih.gov/2159463

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Genetic regulation of UDP-glucuronosyltransferase induction by polycyclic aromatic compounds in mice. Co-segregation with aryl hydrocarbon (benzo(alpha)pyrene) hydroxylase induction

Autor: I S Owens

Publikováno v: Journal of Biological Chemistry. 252:2827-2833

Induction of hepatic 4-methylumbelliferone UDP-glucuronosyltransferase (EC 2.4.1.17) by polycyclic aromatic compounds, such as 3-methylcholanthrene or beta-naphthoflavone, occurs in C57BL/6N, A/J, PL/J, C3HeB/FeJ, and BALB/cJ but not in DBA/2N, AU/Ss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4d4a21de9f51c00f1b36928c8285125a
https://doi.org/10.1016/s0021-9258(17)40437-6

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