146 related articles for article (PubMed ID: 31131300)
21. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
Tohyama J; Nanba E; Ohno K
Hum Genet; 1994 Feb; 93(2):175-81. PubMed ID: 8112742
[TBL] [Abstract][Full Text] [Related]
22. Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
Welin M; Egeblad L; Johansson A; Stenmark P; Wang L; Flodin S; Nyman T; Trésaugues L; Kotenyova T; Johansson I; Eriksson S; Eklund H; Nordlund P
FEBS J; 2010 Dec; 277(23):4920-30. PubMed ID: 21054786
[TBL] [Abstract][Full Text] [Related]
23. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Puig JG; Torres RJ; Mateos FA; Ramos TH; Arcas JM; Buño AS; O'Neill P
Medicine (Baltimore); 2001 Mar; 80(2):102-12. PubMed ID: 11307586
[TBL] [Abstract][Full Text] [Related]
24. Elevated UTP and CTP content in cultured neurons from HPRT-deficient transgenic mice.
Brosh S; Boer P; Sperling O; Zoref-Shani E
J Mol Neurosci; 2000; 14(1-2):87-91. PubMed ID: 10854040
[TBL] [Abstract][Full Text] [Related]
25. 1,3-butadiene: cancer, mutations, and adducts. Part III: In vivo mutation of the endogenous hprt genes of mice and rats by 1,3-butadiene and its metabolites.
Walker VE; Meng Q
Res Rep Health Eff Inst; 2000 Mar; (92):89-139; discussion 141-9. PubMed ID: 10925840
[TBL] [Abstract][Full Text] [Related]
26. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) expression in the central nervous system of HPRT-deficient mice following adenoviral-mediated gene transfer.
Plumb TJ; Bosch A; Roessler BJ; Shewach DS; Davidson BL
Neurosci Lett; 1996 Aug; 214(2-3):159-62. PubMed ID: 8878108
[TBL] [Abstract][Full Text] [Related]
27. Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
Nguyen KV; Naviaux RK; Paik KK; Nyhan WL
Mol Genet Metab; 2012 Aug; 106(4):498-501. PubMed ID: 22766437
[TBL] [Abstract][Full Text] [Related]
28. Hyperuricemia and gout due to deficiency of hypoxanthine-guanine phosphoribosyltransferase in female carriers: New insight to differential diagnosis.
Kostalova E; Pavelka K; Vlaskova H; Musalkova D; Stiburkova B
Clin Chim Acta; 2015 Feb; 440():214-7. PubMed ID: 25476133
[TBL] [Abstract][Full Text] [Related]
29. Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome.
Yeh J; Zheng S; Howard BD
J Neurosci Res; 1998 Jul; 53(1):78-85. PubMed ID: 9670994
[TBL] [Abstract][Full Text] [Related]
30. Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Torres RJ; Puente S; Menendez A; Fernandez-Garcia N
Clin Chim Acta; 2017 Sep; 472():136-138. PubMed ID: 28782500
[TBL] [Abstract][Full Text] [Related]
31. [Chinese hamster cells mutant for the hypoxanthine-guanine phosphoribosyltransferase locus. IV. The biochemical characteristics of the hypoxanthine-guanine phosphoribosyltransferase of hybrid clones obtained by intragenic complementation].
Moiseenko EV; Volkova LV; Luss EV; Baron EM; Petrova ON
Genetika; 1983 Jun; 19(6):965-74. PubMed ID: 6576964
[TBL] [Abstract][Full Text] [Related]
32. Cloning and expression of the hypoxanthine-guanine phosphoribosyltransferase gene from Trypanosoma brucei.
Allen TE; Ullman B
Nucleic Acids Res; 1993 Nov; 21(23):5431-8. PubMed ID: 8265360
[TBL] [Abstract][Full Text] [Related]
33. Intracellular activity of HPRT Cape Town: purine uptake and growth of cultured cells in selective media.
Steyn LM; Harley EH
J Inherit Metab Dis; 1985; 8(4):198-203. PubMed ID: 3939543
[TBL] [Abstract][Full Text] [Related]
34. Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.
Gordon RB; Emmerson BT; Stout JT; Caskey CT
Aust N Z J Med; 1987 Aug; 17(4):424-9. PubMed ID: 3435320
[TBL] [Abstract][Full Text] [Related]
35. Expression of human HPRT mRNA in brains of mice infected with a recombinant herpes simplex virus-1 vector.
Palella TD; Hidaka Y; Silverman LJ; Levine M; Glorioso J; Kelley WN
Gene; 1989 Aug; 80(1):137-44. PubMed ID: 2551779
[TBL] [Abstract][Full Text] [Related]
36. Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients.
Igarashi T; Minami M; Nishida Y
Acta Paediatr Jpn; 1989 Jun; 31(3):303-13. PubMed ID: 2572141
[TBL] [Abstract][Full Text] [Related]
37. Genotoxicity of 1,3-butadiene and its epoxy intermediates.
Walker VE; Walker DM; Meng Q; McDonald JD; Scott BR; Seilkop SK; Claffey DJ; Upton PB; Powley MW; Swenberg JA; Henderson RF;
Res Rep Health Eff Inst; 2009 Aug; (144):3-79. PubMed ID: 20017413
[TBL] [Abstract][Full Text] [Related]
38. Increased PRPP synthetase activity in cultured rat hepatoma cells containing mutations in the hypoxanthine-guanine phosphoribosyltransferase gene.
Graf LH; McRoberts JA; Harrison TM; Martin DW
J Cell Physiol; 1976 Jul; 88(3):331-42. PubMed ID: 178676
[TBL] [Abstract][Full Text] [Related]
39. Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
Davidson BL; Tarlé SA; Van Antwerp M; Gibbs DA; Watts RW; Kelley WN; Palella TD
Am J Hum Genet; 1991 May; 48(5):951-8. PubMed ID: 2018042
[TBL] [Abstract][Full Text] [Related]
40. Specific resistance to 8-azaguanine in cells with normal hypoxanthine phosphoribosyltransferase (HPRT) activity: the role of guanine deaminase.
Meyers MB; Shin S
Cytogenet Cell Genet; 1981; 30(2):118-28. PubMed ID: 7273856
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]