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228 related items for PubMed ID: 26692149

  • 1. 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]

  • 2. 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]

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  • 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. 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 19; 41(5):1029-1036. PubMed ID: 34542828
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. Evidence for pathogenicity of atypical splice mutations in autosomal dominant polycystic kidney disease.
    Wang K, Zhao X, Chan S, Cil O, He N, Song X, Paterson AD, Pei Y.
    Clin J Am Soc Nephrol; 2009 Feb 10; 4(2):442-9. PubMed ID: 19158373
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 30(2):264-73. PubMed ID: 18837007
    [Abstract] [Full Text] [Related]

  • 10. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
    Reynolds DM, Hayashi T, Cai Y, Veldhuisen B, Watnick TJ, Lens XM, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning MH, Germino GG, Peters DJ, Somlo S.
    J Am Soc Nephrol; 1999 Nov 10; 10(11):2342-51. PubMed ID: 10541293
    [Abstract] [Full Text] [Related]

  • 11. Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.
    Perdomo-Ramirez A, de Armas-Ortiz M, Ramos-Trujillo E, Suarez-Artiles L, Claverie-Martin F.
    BMC Med Genet; 2019 Jan 08; 20(1):6. PubMed ID: 30621608
    [Abstract] [Full Text] [Related]

  • 12. Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
    Torra R, Viribay M, Tellería D, Badenas C, Watson M, Harris P, Darnell A, San Millán JL.
    Kidney Int; 1999 Jul 08; 56(1):28-33. PubMed ID: 10411676
    [Abstract] [Full Text] [Related]

  • 13. PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.
    Stekrová J, Reiterová J, Merta M, Damborsky J, Zidovská J, Kebrdlová V, Kohoutová M.
    Nephrol Dial Transplant; 2004 May 08; 19(5):1116-22. PubMed ID: 14993477
    [Abstract] [Full Text] [Related]

  • 14. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
    Gaildrat P, Krieger S, Di Giacomo D, Abdat J, Révillion F, Caputo S, Vaur D, Jamard E, Bohers E, Ledemeney D, Peyrat JP, Houdayer C, Rouleau E, Lidereau R, Frébourg T, Hardouin A, Tosi M, Martins A.
    J Med Genet; 2012 Oct 08; 49(10):609-17. PubMed ID: 22962691
    [Abstract] [Full Text] [Related]

  • 15. Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
    Suarez-Artiles L, Perdomo-Ramirez A, Ramos-Trujillo E, Claverie-Martin F.
    Genes (Basel); 2018 Jan 04; 9(1):. PubMed ID: 29300302
    [Abstract] [Full Text] [Related]

  • 16. 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 04; 16(5):444-5. PubMed ID: 11058904
    [Abstract] [Full Text] [Related]

  • 17. [Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease].
    Gómez PF, Moro EC, García-Cosmes P, Sarmiento RG, Romo JM.
    Nefrologia; 2009 Nov 04; 29(6):562-8. PubMed ID: 19936001
    [Abstract] [Full Text] [Related]

  • 18. Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.
    Torra R, Badenas C, Pérez-Oller L, Luis J, Millán S, Nicolau C, Oppenheimer F, Milà M, Darnell A.
    Am J Kidney Dis; 2000 Oct 04; 36(4):728-34. PubMed ID: 11007674
    [Abstract] [Full Text] [Related]

  • 19. Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.
    Boichard A, Venet L, Naas T, Boutron A, Chevret L, de Baulny HO, De Lonlay P, Legrand A, Nordman P, Brivet M.
    Mol Genet Metab; 2008 Mar 04; 93(3):323-30. PubMed ID: 18023225
    [Abstract] [Full Text] [Related]

  • 20. Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.
    Raponi M, Kralovicova J, Copson E, Divina P, Eccles D, Johnson P, Baralle D, Vorechovsky I.
    Hum Mutat; 2011 Apr 04; 32(4):436-44. PubMed ID: 21309043
    [Abstract] [Full Text] [Related]

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