These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

247 related articles for article (PubMed ID: 11129328)

  • 1. Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs.
    Henthorn PS; Liu J; Gidalevich T; Fang J; Casal ML; Patterson DF; Giger U
    Hum Genet; 2000 Oct; 107(4):295-303. PubMed ID: 11129328
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SLC7A9 cDNA cloning and mutational analysis of SLC3A1 and SLC7A9 in canine cystinuria.
    Harnevik L; Hoppe A; Söderkvist P
    Mamm Genome; 2006 Jul; 17(7):769-76. PubMed ID: 16845473
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.
    Brons AK; Henthorn PS; Raj K; Fitzgerald CA; Liu J; Sewell AC; Giger U
    J Vet Intern Med; 2013; 27(6):1400-8. PubMed ID: 24001348
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Efficient screening of the cystinuria-related C663T Slc3a1 nonsense mutation in Newfoundland dogs by denaturing high-performance liquid chromatography.
    Matos AJ; Mascarenhas C; Magalhães P; Pinto JP
    J Vet Diagn Invest; 2006 Jan; 18(1):102-5. PubMed ID: 16566266
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
    Botzenhart E; Vester U; Schmidt C; Hesse A; Halber M; Wagner C; Lang F; Hoyer P; Zerres K; Eggermann T;
    Kidney Int; 2002 Oct; 62(4):1136-42. PubMed ID: 12234283
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Feline cystinuria caused by a missense mutation in the SLC3A1 gene.
    Mizukami K; Raj K; Giger U
    J Vet Intern Med; 2015 Jan; 29(1):120-5. PubMed ID: 25417848
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 69(Pt 5):501-7. PubMed ID: 16138908
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the SLC3A1 gene in cystinuric patients: frequencies and identification of a novel mutation.
    Albers A; Lahme S; Wagner C; Kaiser P; Zerres K; Capasso G; Pica A; Palacin M; Lang F; Bichler KH; Eggermann T
    Genet Test; 1999; 3(2):227-31. PubMed ID: 10464673
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
    Feliubadaló L; Font M; Purroy J; Rousaud F; Estivill X; Nunes V; Golomb E; Centola M; Aksentijevich I; Kreiss Y; Goldman B; Pras M; Kastner DL; Pras E; Gasparini P; Bisceglia L; Beccia E; Gallucci M; de Sanctis L; Ponzone A; Rizzoni GF; Zelante L; Bassi MT; George AL; Manzoni M; De Grandi A; Riboni M; Endsley JK; Ballabio A; Borsani G; Reig N; Fernández E; Estévez R; Pineda M; Torrents D; Camps M; Lloberas J; Zorzano A; Palacín M;
    Nat Genet; 1999 Sep; 23(1):52-7. PubMed ID: 10471498
    [TBL] [Abstract][Full Text] [Related]  

  • 10. SLC7A9 mutations in all three cystinuria subtypes.
    Leclerc D; Boutros M; Suh D; Wu Q; Palacin M; Ellis JR; Goodyer P; Rozen R
    Kidney Int; 2002 Nov; 62(5):1550-9. PubMed ID: 12371955
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation analysis of SLC7A9 in cystinuria patients in Sweden.
    Harnevik L; Fjellstedt E; Molbaek A; Denneberg T; Söderkvist P
    Genet Test; 2003; 7(1):13-20. PubMed ID: 12820697
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.
    Schmidt C; Albers A; Tomiuk J; Eggermann K; Wagner C; Capasso G; Lahme S; Hesse A; Lang F; Zerres K; Eggermann T
    Clin Nephrol; 2002 May; 57(5):342-8. PubMed ID: 12036192
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria.
    Egoshi KI; Akakura K; Kodama T; Ito H
    Kidney Int; 2000 Jan; 57(1):25-32. PubMed ID: 10620184
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 18(6):516-25. PubMed ID: 11748844
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 31(6):417-25. PubMed ID: 14586528
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
    Schmidt C; Vester U; Wagner CA; Lahme S; Hesse A; Hoyer P; Lang F; Zerres K; Eggermann T;
    Kidney Int; 2003 Nov; 64(5):1564-72. PubMed ID: 14531788
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.
    Bisceglia L; Fischetti L; Bonis PD; Palumbo O; Augello B; Stanziale P; Carella M; Zelante L
    Mol Genet Metab; 2010 Jan; 99(1):42-52. PubMed ID: 19782624
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [From gene to disease; SLC3A1, SLC7A9 and cystinuria].
    Breuning MH; Hamdy NA
    Ned Tijdschr Geneeskd; 2003 Feb; 147(6):245-7. PubMed ID: 12621979
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 36(1):163-7. PubMed ID: 8812428
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.
    Horsford J; Saadi I; Raelson J; Goodyer PR; Rozen R
    Kidney Int; 1996 May; 49(5):1401-6. PubMed ID: 8731106
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.