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Journal Abstract Search

795 related items for PubMed ID: 24907393

  • 1. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.
    Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.
    Gene; 2014 Aug 10; 546(2):243-9. PubMed ID: 24907393
    [Abstract] [Full Text] [Related]

  • 2. Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease.
    Claverie-Martin F, Gonzalez-Paredes FJ, Ramos-Trujillo E.
    RNA Biol; 2015 Aug 10; 12(4):369-74. PubMed ID: 25757501
    [Abstract] [Full Text] [Related]

  • 3. Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.
    Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.
    Gene; 2016 Mar 01; 578(1):117-23. PubMed ID: 26692149
    [Abstract] [Full Text] [Related]

  • 4. Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay.
    Liu X, Shi X, Xin Q, Liu Z, Pan F, Qiao D, Chen M, Zhang Y, Guo W, Li C, Zhang Y, Shao L, Zhang R.
    BMC Genomics; 2023 Jul 19; 24(1):407. PubMed ID: 37468838
    [Abstract] [Full Text] [Related]

  • 5. Aberrant PKD2 splicing due to a presumed novel missense mutation in autosomal-dominant polycystic kidney disease.
    Tan YC, Blumenfeld J, Michaeel A, Donahue S, Balina M, Parker T, Levine D, Rennert H.
    Clin Genet; 2011 Sep 19; 80(3):287-92. PubMed ID: 20950398
    [Abstract] [Full Text] [Related]

  • 6. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
    Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, Parker T, Levine D, Leonard DG, Rennert H.
    Hum Mutat; 2009 Feb 19; 30(2):264-73. PubMed ID: 18837007
    [Abstract] [Full Text] [Related]

  • 7. Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes.
    Aguiari G, Savelli S, Garbo M, Bozza A, Augello G, Penolazzi L, De Paoli Vitali E, La Torre C, Cappelli G, Piva R, del Senno L.
    Hum Mutat; 2000 Nov 19; 16(5):444-5. PubMed ID: 11058904
    [Abstract] [Full Text] [Related]

  • 8. Two novel mutations affecting the same splice site of PKD1 correlate with different phenotypes in ADPKD.
    Yu C, Li J, Yuan Z, Liu S, Zou L.
    Ren Fail; 2014 Jun 19; 36(5):687-93. PubMed ID: 24575920
    [Abstract] [Full Text] [Related]

  • 9. [Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
    Torra R, Badenas C, Pérez-Oller L, San Millán JL, Tellería D, Estivill X, Darnell A.
    Nefrologia; 2000 Jun 19; 20(1):39-46. PubMed ID: 10822721
    [Abstract] [Full Text] [Related]

  • 10. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
    Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C.
    Hum Mutat; 2012 Aug 19; 33(8):1239-50. PubMed ID: 22508176
    [Abstract] [Full Text] [Related]

  • 11. Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
    Chang MY, Chen HM, Jenq CC, Lee SY, Chen YM, Tian YC, Chen YC, Hung CC, Fang JT, Yang CW, Wu-Chou YH.
    J Hum Genet; 2013 Nov 19; 58(11):720-7. PubMed ID: 23985799
    [Abstract] [Full Text] [Related]

  • 12. Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
    Abdelwahed M, Hilbert P, Ahmed A, Mahfoudh H, Bouomrani S, Dey M, Hachicha J, Kamoun H, Keskes-Ammar L, Belguith N.
    Gene; 2018 Sep 10; 671():28-35. PubMed ID: 29860066
    [Abstract] [Full Text] [Related]

  • 13. A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
    Thongnoppakhun A, Rungroj N, Wilairat P, Vareesangthip K, Sirinavin C, Yenchitsomanus PT.
    Hum Mutat; 2000 Jan 10; 15(1):115. PubMed ID: 10612835
    [Abstract] [Full Text] [Related]

  • 14. Characterization of hprt splicing mutations induced by the ultimate carcinogenic metabolite of benzo[a]pyrene in Chinese hamster V-79 cells.
    Hennig EE, Conney AH, Wei SJ.
    Cancer Res; 1995 Apr 01; 55(7):1550-8. PubMed ID: 7882364
    [Abstract] [Full Text] [Related]

  • 15. Identification of missense and synonymous variants in Iranian patients suffering from autosomal dominant polycystic kidney disease.
    Khadangi F, Torkamanzehi A, Kerachian MA.
    BMC Nephrol; 2020 Sep 21; 21(1):408. PubMed ID: 32957937
    [Abstract] [Full Text] [Related]

  • 16. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
    Hoefele J, Mayer K, Scholz M, Klein HG.
    Nephrol Dial Transplant; 2011 Jul 21; 26(7):2181-8. PubMed ID: 21115670
    [Abstract] [Full Text] [Related]

  • 17. A Presumed Synonymous Mutation of PKD2 Caused Autosomal Dominant Polycystic Kidney Disease in a Chinese Family.
    Deng LX, Yang Y, Yang J, Zhou LW, Wang K, Zhou JH.
    Curr Med Sci; 2021 Oct 21; 41(5):1029-1036. PubMed ID: 34542828
    [Abstract] [Full Text] [Related]

  • 18. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
    Vouk K, Strmecki L, Stekrova J, Reiterova J, Bidovec M, Hudler P, Kenig A, Jereb S, Zupanic-Pajnic I, Balazic J, Haarpaintner G, Leskovar B, Adamlje A, Skoflic A, Dovc R, Hojs R, Komel R.
    BMC Med Genet; 2006 Jan 23; 7():6. PubMed ID: 16430766
    [Abstract] [Full Text] [Related]

  • 19. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
    Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.
    Hum Mutat; 2004 Nov 23; 24(5):370-80. PubMed ID: 15459959
    [Abstract] [Full Text] [Related]

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