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Journal Abstract Search

167 related items for PubMed ID: 10541293

  • 1. 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(11):2342-51. PubMed ID: 10541293
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  • 2. 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; 56(1):28-33. PubMed ID: 10411676
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  • 6. 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
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  • 7. Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells.
    Aguiari G, Manzati E, Penolazzi L, Micheletti F, Augello G, Vitali ED, Cappelli G, Cai Y, Reynolds D, Somlo S, Piva R, del Senno L.
    Am J Kidney Dis; 1999 May 01; 33(5):880-5. PubMed ID: 10213643
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  • 8. 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 01; 36(4):728-34. PubMed ID: 11007674
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  • 12. 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 Oct 01; 12(4):369-74. PubMed ID: 25757501
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  • 14. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.
    Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y.
    J Am Soc Nephrol; 2003 May 01; 14(5):1164-74. PubMed ID: 12707387
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  • 15. A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.
    Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P.
    Kidney Int; 1998 May 01; 53(5):1127-32. PubMed ID: 9573526
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  • 20. Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
    Inoue S, Inoue K, Utsunomiya M, Nozaki J, Yamada Y, Iwasa T, Mori E, Yoshinaga T, Koizumi A.
    Hum Mutat; 2002 Jun 01; 19(6):622-8. PubMed ID: 12007219
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