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160 related items for PubMed ID: 38142039

  • 1. 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; 105(3):496-507. PubMed ID: 38142039
    [Abstract] [Full Text] [Related]

  • 2. Generation and characterization of a novel rat model of primary hyperoxaluria type 1 with a nonsense mutation in alanine-glyoxylate aminotransferase gene.
    Li Y, Zheng R, Xu G, Huang Y, Li Y, Li D, Geng H.
    Am J Physiol Renal Physiol; 2021 Mar 01; 320(3):F475-F484. PubMed ID: 33491567
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 246(4):233-241. PubMed ID: 30541997
    [Abstract] [Full Text] [Related]

  • 4. Systemic Alanine Glyoxylate Aminotransferase mRNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1.
    Kukreja A, Lasaro M, Cobaugh C, Forbes C, Tang JP, Gao X, Martin-Higueras C, Pey AL, Salido E, Sobolov S, Subramanian RR.
    Nucleic Acid Ther; 2019 Apr 01; 29(2):104-113. PubMed ID: 30676254
    [Abstract] [Full Text] [Related]

  • 5. Generation of a Primary Hyperoxaluria Type 1 Disease Model Via CRISPR/Cas9 System in Rats.
    Zheng R, Fang X, He L, Shao Y, Guo N, Wang L, Liu M, Li D, Geng H.
    Curr Mol Med; 2018 Apr 01; 18(7):436-447. PubMed ID: 30539697
    [Abstract] [Full Text] [Related]

  • 6. Multiplex gene editing reduces oxalate production in primary hyperoxaluria type 1.
    Zheng R, Zhang DX, Shao YJ, Fang XL, Yang L, Huo YN, Li DL, Geng HQ.
    Zool Res; 2023 Nov 18; 44(6):993-1002. PubMed ID: 37759334
    [Abstract] [Full Text] [Related]

  • 7. 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 18; 1854(9):1212-9. PubMed ID: 25620715
    [Abstract] [Full Text] [Related]

  • 8. Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.
    Kanoun H, Jarraya F, Maalej B, Lahiani A, Mahfoudh H, Makni F, Hachicha J, Fakhfakh F.
    BMC Nephrol; 2017 Oct 02; 18(1):303. PubMed ID: 28969594
    [Abstract] [Full Text] [Related]

  • 9. Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
    Nagara M, Tiar A, Ben Halim N, Ben Rhouma F, Messaoud O, Bouyacoub Y, Kefi R, Hassayoun S, Zouari N, Ben Ammar MS, Abdelhak S, Chemli J.
    Gene; 2013 Sep 15; 527(1):316-20. PubMed ID: 23810941
    [Abstract] [Full Text] [Related]

  • 10. CRISPR/Cas9-mediated metabolic pathway reprogramming in a novel humanized rat model ameliorates primary hyperoxaluria type 1.
    Zheng R, Li Y, Wang L, Fang X, Zhang J, He L, Yang L, Li D, Geng H.
    Kidney Int; 2020 Oct 15; 98(4):947-957. PubMed ID: 32464217
    [Abstract] [Full Text] [Related]

  • 11.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Milliner DS, Harris PC, Sas DJ, Cogal AG, Lieske JC.
    ; 1993 Oct 15. PubMed ID: 20301460
    [Abstract] [Full Text] [Related]

  • 12. Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.
    Danpure CJ.
    Am J Nephrol; 2005 Oct 15; 25(3):303-10. PubMed ID: 15961951
    [Abstract] [Full Text] [Related]

  • 13. [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]

  • 14. Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
    Oppici E, Roncador A, Montioli R, Bianconi S, Cellini B.
    Biochim Biophys Acta; 2013 Dec 29; 1832(12):2277-88. PubMed ID: 24055001
    [Abstract] [Full Text] [Related]

  • 15. Molecular aetiology of primary hyperoxaluria type 1.
    Danpure CJ.
    Nephron Exp Nephrol; 2004 Dec 29; 98(2):e39-44. PubMed ID: 15499210
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic correction of a mouse model for primary hyperoxaluria with adeno-associated virus gene transfer.
    Salido E, Rodriguez-Pena M, Santana A, Beattie SG, Petry H, Torres A.
    Mol Ther; 2011 May 29; 19(5):870-5. PubMed ID: 21119625
    [Abstract] [Full Text] [Related]

  • 17. Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I.
    Naguib S, Mansour LA, Soliman NA, El-Hanafy HM, Fahmy YA, Elmonem MA, Halim RMA.
    Genet Test Mol Biomarkers; 2024 Apr 29; 28(4):151-158. PubMed ID: 38657121
    [Abstract] [Full Text] [Related]

  • 18. Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.
    Isiyel E, Ezgu SA, Caliskan S, Akman S, Akil I, Tabel Y, Akinci N, Ozdogan EB, Ozel A, Eroglu FK, Ezgu FS.
    Mol Genet Metab; 2016 Dec 29; 119(4):311-316. PubMed ID: 27915025
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Targeted gene therapy in human-induced pluripotent stem cells from a patient with primary hyperoxaluria type 1 using CRISPR/Cas9 technology.
    Estève J, Blouin JM, Lalanne M, Azzi-Martin L, Dubus P, Bidet A, Harambat J, Llanas B, Moranvillier I, Bedel A, Moreau-Gaudry F, Richard E.
    Biochem Biophys Res Commun; 2019 Oct 01; 517(4):677-683. PubMed ID: 31402115
    [Abstract] [Full Text] [Related]

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