Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2
- PMID: 16306119
- DOI: 10.1373/clinchem.2005.058305
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2
Similar articles
-
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.Hum Mutat. 2003 Dec;22(6):497. doi: 10.1002/humu.9200. Hum Mutat. 2003. PMID: 14635115
-
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling.J Urol. 2009 May;181(5):2146-51. doi: 10.1016/j.juro.2009.01.045. Epub 2009 Mar 17. J Urol. 2009. PMID: 19296982
-
A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.Nephrol Dial Transplant. 2007 Aug;22(8):2371-4. doi: 10.1093/ndt/gfm271. Epub 2007 May 17. Nephrol Dial Transplant. 2007. PMID: 17510093 Free PMC article. No abstract available.
-
An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias.Urol Res. 2005 Nov;33(5):318-20. doi: 10.1007/s00240-005-0494-2. Epub 2005 Oct 6. Urol Res. 2005. PMID: 16208537 Review.
-
Molecular aetiology of primary hyperoxaluria and its implications for clinical management.Expert Rev Mol Med. 2004 Jan 9;6(1):1-16. doi: 10.1017/S1462399404007203. Expert Rev Mol Med. 2004. PMID: 14987413 Review.
Cited by
-
Recent advances in the identification and management of inherited hyperoxalurias.Urolithiasis. 2019 Feb;47(1):79-89. doi: 10.1007/s00240-018-1093-3. Epub 2018 Dec 10. Urolithiasis. 2019. PMID: 30535828 Review.
-
Modification of primers for GRHPR genotyping: avoiding allele dropout by single nucleotide polymorphisms and homology sequence.Urol Res. 2008 Dec;36(6):297-302. doi: 10.1007/s00240-008-0159-z. Epub 2008 Nov 4. Urol Res. 2008. PMID: 18982322
-
Nedosiran, a Candidate siRNA Drug for the Treatment of Primary Hyperoxaluria: Design, Development, and Clinical Studies.ACS Pharmacol Transl Sci. 2022 Sep 21;5(11):1007-1016. doi: 10.1021/acsptsci.2c00110. eCollection 2022 Nov 11. ACS Pharmacol Transl Sci. 2022. PMID: 36407951 Free PMC article. Review.
-
Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2.Nephrol Dial Transplant. 2006 Aug;21(8):2292-5. doi: 10.1093/ndt/gfl142. Epub 2006 Apr 5. Nephrol Dial Transplant. 2006. PMID: 16597637 Free PMC article. Clinical Trial.
-
Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.Urol Res. 2009 Jun;37(3):127-32. doi: 10.1007/s00240-009-0185-5. Epub 2009 Mar 13. Urol Res. 2009. PMID: 19283374
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources