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Items: 1 to 20 of 24

1.

ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1.

Vasiliou V, Sandoval M, Backos DS, Jackson BC, Chen Y, Reigan P, Lanaspa MA, Johnson RJ, Koppaka V, Thompson DC.

Chem Biol Interact. 2013 Feb 25;202(1-3):22-31. doi: 10.1016/j.cbi.2012.12.018. Epub 2013 Jan 21.

2.

Recent insights into the pathogenesis of hyperuricaemia and gout.

Riches PL, Wright AF, Ralston SH.

Hum Mol Genet. 2009 Oct 15;18(R2):R177-84. doi: 10.1093/hmg/ddp369. Review.

3.

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Yamada Y.

Nihon Rinsho. 2008 Apr;66(4):687-93. Review. Japanese.

PMID:
18409516
4.

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

Torres RJ, Puig JG.

Orphanet J Rare Dis. 2007 Dec 8;2:48. Review.

5.

The role of the HPRT gene in human disease.

Jolly DJ.

Horiz Biochem Biophys. 1986;8:123-68. Review.

PMID:
2875930
6.

The hypoxanthine phosphoribosyltransferase gene: a model for the study of mutation in mammalian cells.

Chinault AC, Caskey CT.

Prog Nucleic Acid Res Mol Biol. 1984;31:295-313. Review. No abstract available.

PMID:
6397773
7.

Genetic factors associated with gout and hyperuricemia.

Bleyer AJ, Hart TC.

Adv Chronic Kidney Dis. 2006 Apr;13(2):124-30. Review.

PMID:
16580613
8.

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. Review.

9.

[Genetic testing and gene-based testing for hyperuricemia and gout].

Taniguchi A, Kamatani N.

Nihon Rinsho. 2005 Dec;63 Suppl 12:285-9. Review. Japanese. No abstract available.

PMID:
16416809
10.

The HPRT locus.

Caskey CT, Kruh GD.

Cell. 1979 Jan;16(1):1-9. Review. No abstract available.

PMID:
369702
11.

Genetics of gout.

Choi HK, Zhu Y, Mount DB.

Curr Opin Rheumatol. 2010 Mar;22(2):144-51. doi: 10.1097/BOR.0b013e32833645e8. Review.

PMID:
20110790
12.

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.

Mutat Res. 2000 Oct;463(3):309-26. Review.

PMID:
11018746
13.

Uric acid transport and disease.

So A, Thorens B.

J Clin Invest. 2010 Jun;120(6):1791-9. doi: 10.1172/JCI42344. Epub 2010 Jun 1. Review.

14.

The genetic basis of hyperuricaemia and gout.

Merriman TR, Dalbeth N.

Joint Bone Spine. 2011 Jan;78(1):35-40. doi: 10.1016/j.jbspin.2010.02.027. Epub 2010 May 15. Review.

PMID:
20472486
15.

Hereditary hyperuricemia and renal disease.

Cameron JS, Simmonds HA.

Semin Nephrol. 2005 Jan;25(1):9-18. Review.

PMID:
15660329
16.

Genetics of hyperuricemia and gout: implications for the present and future.

George RL, Keenan RT.

Curr Rheumatol Rep. 2013 Feb;15(2):309. doi: 10.1007/s11926-012-0309-8. Review.

PMID:
23307580
17.

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.

Sculley DG, Dawson PA, Emmerson BT, Gordon RB.

Hum Genet. 1992 Nov;90(3):195-207. Review.

PMID:
1487231
18.
19.

[Physiology and dynamics of uric acid in hyperuricemia].

Takagi K, Nakamura T, Ueda T.

Nihon Rinsho. 2008 Apr;66(4):669-74. Review. Japanese.

PMID:
18409512
20.

[Alcohol ingestion and hyperuricemia].

Yamanaka H.

Nihon Rinsho. 1996 Dec;54(12):3369-73. Review. Japanese.

PMID:
8976122
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