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Journal Abstract Search


484 related items for PubMed ID: 12923163

  • 1. A mouse model for cystinuria type I.
    Peters T, Thaete C, Wolf S, Popp A, Sedlmeier R, Grosse J, Nehls MC, Russ A, Schlueter V.
    Hum Mol Genet; 2003 Sep 01; 12(17):2109-20. PubMed ID: 12923163
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  • 2. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
    Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V.
    Hum Mol Genet; 2003 Sep 01; 12(17):2097-108. PubMed ID: 12915471
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  • 3. Cystinuria phenotyping by oral lysine and arginine loading.
    de Sanctis L, Bonetti G, Bruno M, De Luca F, Bisceglia L, Palacin M, Dianzani I, Ponzone A.
    Clin Nephrol; 2001 Dec 01; 56(6):467-74. PubMed ID: 11770798
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  • 4. [From gene to disease; SLC3A1, SLC7A9 and cystinuria].
    Breuning MH, Hamdy NA.
    Ned Tijdschr Geneeskd; 2003 Feb 08; 147(6):245-7. PubMed ID: 12621979
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  • 5. Recent advances in the biochemical and molecular biological basis of cystinuria.
    Gitomer WL, Pak CY.
    J Urol; 1996 Dec 08; 156(6):1907-12. PubMed ID: 8911353
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  • 6. Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.
    Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Söderkvist P, Denneberg T.
    Urol Res; 2003 Dec 08; 31(6):417-25. PubMed ID: 14586528
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  • 7. Cystinuria at the turn of the millennium: clinical aspects and new molecular developments.
    Pras E.
    Mol Urol; 2000 Dec 08; 4(4):409-14. PubMed ID: 11156709
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  • 8. Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
    Font-Llitjós M, Feliubadaló L, Espino M, Clèries R, Mañas S, Frey IM, Puertas S, Colell G, Palomo S, Aranda J, Visa J, Palacín M, Nunes V.
    Am J Physiol Renal Physiol; 2007 Sep 08; 293(3):F732-40. PubMed ID: 17596531
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  • 10. Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.
    Skopková Z, Hrabincová E, Stástná S, Kozák L, Adam T.
    Ann Hum Genet; 2005 Sep 08; 69(Pt 5):501-7. PubMed ID: 16138908
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  • 12. Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.
    Pras E, Sood R, Raben N, Aksentijevich I, Chen X, Kastner DL.
    Genomics; 1996 Aug 15; 36(1):163-7. PubMed ID: 8812428
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  • 13. Advances in genetic aspects of cystinuria.
    Ito H, Egoshi K, Mizoguchi K, Akakura K.
    Mol Urol; 2000 Aug 15; 4(4):403-8. PubMed ID: 11156708
    [Abstract] [Full Text] [Related]

  • 14. Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT.
    Pineda M, Wagner CA, Bröer A, Stehberger PA, Kaltenbach S, Gelpí JL, Martín Del Río R, Zorzano A, Palacín M, Lang F, Bröer S.
    Biochem J; 2004 Feb 01; 377(Pt 3):665-74. PubMed ID: 14561219
    [Abstract] [Full Text] [Related]

  • 15. Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
    Harnevik L, Fjellstedt E, Molbaek A, Tiselius HG, Denneberg T, Söderkvist P.
    Hum Mutat; 2001 Dec 01; 18(6):516-25. PubMed ID: 11748844
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  • 18. Digenic Inheritance in Cystinuria Mouse Model.
    Espino M, Font-Llitjós M, Vilches C, Salido E, Prat E, López de Heredia M, Palacín M, Nunes V.
    PLoS One; 2015 Dec 01; 10(9):e0137277. PubMed ID: 26359869
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