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265 related items for PubMed ID: 14987413

  • 21. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.
    Cregeen DP, Williams EL, Hulton S, Rumsby G.
    Hum Mutat; 2003 Dec; 22(6):497. PubMed ID: 14635115
    [Abstract] [Full Text] [Related]

  • 22. [From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].
    van Woerden CS, Groothof JW, Wanders RJ, Waterham HR, Wijburg FR.
    Ned Tijdschr Geneeskd; 2006 Jul 29; 150(30):1669-72. PubMed ID: 16922352
    [Abstract] [Full Text] [Related]

  • 23. Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.
    Oppici E, Montioli R, Cellini B.
    Biochim Biophys Acta; 2015 Sep 29; 1854(9):1212-9. PubMed ID: 25620715
    [Abstract] [Full Text] [Related]

  • 24. Identification of new mutations in primary hyperoxaluria type 1 (PH1).
    von Schnakenburg C, Rumsby G.
    J Nephrol; 1998 Sep 29; 11 Suppl 1():15-7. PubMed ID: 9604803
    [Abstract] [Full Text] [Related]

  • 25. Hydroxyproline metabolism in mouse models of primary hyperoxaluria.
    Knight J, Holmes RP, Cramer SD, Takayama T, Salido E.
    Am J Physiol Renal Physiol; 2012 Mar 15; 302(6):F688-93. PubMed ID: 22189945
    [Abstract] [Full Text] [Related]

  • 26. In vivo base editing rescues primary hyperoxaluria type 1 in rats.
    Chen Z, Zhang D, Zheng R, Yang L, Huo Y, Zhang D, Fang X, Li Y, Xu G, Li D, Geng H.
    Kidney Int; 2024 Mar 15; 105(3):496-507. PubMed ID: 38142039
    [Abstract] [Full Text] [Related]

  • 27. Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.
    M'dimegh S, Omezzine A, Hamida-Rebai MB, Aquaviva-Bourdain C, M'barek I, Sahtout W, Zellama D, Souche G, Achour A, Abroug S, Bouslama A.
    Transpl Immunol; 2016 Nov 15; 39():60-65. PubMed ID: 27568336
    [Abstract] [Full Text] [Related]

  • 28. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria.
    Amoroso A, Pirulli D, Florian F, Puzzer D, Boniotto M, Crovella S, Zezlina S, Spanò A, Mazzola G, Savoldi S, Ferrettini C, Berutti S, Petrarulo M, Marangella M.
    J Am Soc Nephrol; 2001 Oct 15; 12(10):2072-2079. PubMed ID: 11562405
    [Abstract] [Full Text] [Related]

  • 29. The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.
    Mesa-Torres N, Fabelo-Rosa I, Riverol D, Yunta C, Albert A, Salido E, Pey AL.
    PLoS One; 2013 Oct 15; 8(8):e71963. PubMed ID: 24205397
    [Abstract] [Full Text] [Related]

  • 30. A Putative Mutation Hotspot of the AGXT Gene Associated with Primary Hyperoxaluria Type 1 in the Chinese Population.
    Li X, Gu J, Yang Y, Li J, Li Y.
    Tohoku J Exp Med; 2018 Dec 15; 246(4):233-241. PubMed ID: 30541997
    [Abstract] [Full Text] [Related]

  • 31. Alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting in human hereditary kidney stone disease.
    Danpure CJ, Lumb MJ, Birdsey GM, Zhang X.
    Biochim Biophys Acta; 2003 Apr 11; 1647(1-2):70-5. PubMed ID: 12686111
    [Abstract] [Full Text] [Related]

  • 32. Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.
    Fargue S, Knight J, Holmes RP, Rumsby G, Danpure CJ.
    Biochim Biophys Acta; 2016 Jun 11; 1862(6):1055-62. PubMed ID: 26854734
    [Abstract] [Full Text] [Related]

  • 33. Glyoxylate reductase activity in blood mononuclear cells and the diagnosis of primary hyperoxaluria type 2.
    Knight J, Holmes RP, Milliner DS, Monico CG, Cramer SD.
    Nephrol Dial Transplant; 2006 Aug 11; 21(8):2292-5. PubMed ID: 16597637
    [Abstract] [Full Text] [Related]

  • 34. A double mutation in AGXT gene in families with primary hyperoxaluria type 1.
    Kanoun H, Jarraya F, Hadj Salem I, Mahfoudh H, Chaabouni Y, Makni F, Hachicha J, Fakhfakh F.
    Gene; 2013 Dec 01; 531(2):451-6. PubMed ID: 24012869
    [Abstract] [Full Text] [Related]

  • 35. Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1.
    Dutta C, Avitahl-Curtis N, Pursell N, Larsson Cohen M, Holmes B, Diwanji R, Zhou W, Apponi L, Koser M, Ying B, Chen D, Shui X, Saxena U, Cyr WA, Shah A, Nazef N, Wang W, Abrams M, Dudek H, Salido E, Brown BD, Lai C.
    Mol Ther; 2016 Apr 01; 24(4):770-8. PubMed ID: 26758691
    [Abstract] [Full Text] [Related]

  • 36. Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.
    Lage MD, Pittman AM, Roncador A, Cellini B, Tucker CL.
    PLoS One; 2014 Apr 01; 9(4):e94338. PubMed ID: 24718375
    [Abstract] [Full Text] [Related]

  • 37. The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
    Dindo M, Mandrile G, Conter C, Montone R, Giachino D, Pelle A, Costantini C, Cellini B.
    Mol Genet Metab; 2020 Apr 01; 131(1-2):171-180. PubMed ID: 32792227
    [Abstract] [Full Text] [Related]

  • 38. Primary hyperoxaluria in Coton de Tulear.
    Vidgren G, Vainio-Siukola K, Honkasalo S, Dillard K, Anttila M, Vauhkonen H.
    Anim Genet; 2012 Jun 01; 43(3):356-61. PubMed ID: 22486513
    [Abstract] [Full Text] [Related]

  • 39. Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis.
    Coulter-Mackie MB, Rumsby G.
    Mol Genet Metab; 2004 Jun 01; 83(1-2):38-46. PubMed ID: 15464418
    [Abstract] [Full Text] [Related]

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