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251 related items for PubMed ID: 9005987

  • 1. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.
    Brasier JL, Henske EP.
    J Clin Invest; 1997 Jan 15; 99(2):194-9. PubMed ID: 9005987
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  • 2. Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients.
    Badenas C, Torra R, Pérez-Oller L, Mallolas J, Talbot-Wright R, Torregrosa V, Darnell A.
    Eur J Hum Genet; 2000 Jul 15; 8(7):487-92. PubMed ID: 10909847
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  • 3. Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
    Koptides M, Constantinides R, Kyriakides G, Hadjigavriel M, Patsalis PC, Pierides A, Deltas CC.
    Hum Genet; 1998 Dec 15; 103(6):709-17. PubMed ID: 9921908
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  • 4. A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.
    Torra R, Badenas C, San Millán JL, Pérez-Oller L, Estivill X, Darnell A.
    Am J Hum Genet; 1999 Aug 15; 65(2):345-52. PubMed ID: 10417277
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  • 5. Detection of PKD1 and PKD2 Somatic Variants in Autosomal Dominant Polycystic Kidney Cyst Epithelial Cells by Whole-Genome Sequencing.
    Zhang Z, Bai H, Blumenfeld J, Ramnauth AB, Barash I, Prince M, Tan AY, Michaeel A, Liu G, Chicos I, Rennert L, Giannakopoulos S, Larbi K, Hughes S, Salvatore SP, Robinson BD, Kapur S, Rennert H.
    J Am Soc Nephrol; 2021 Dec 01; 32(12):3114-3129. PubMed ID: 34716216
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  • 6. Overexpression of PKD1 causes polycystic kidney disease.
    Thivierge C, Kurbegovic A, Couillard M, Guillaume R, Coté O, Trudel M.
    Mol Cell Biol; 2006 Feb 01; 26(4):1538-48. PubMed ID: 16449663
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  • 7. [Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis].
    Pérez-Oller L, Torra R, Badenas C, San Millán JL, Darnell A.
    Nefrologia; 2000 Feb 01; 20(2):130-8. PubMed ID: 10853193
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  • 9. Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
    Wills ES, Cnossen WR, Veltman JA, Woestenenk R, Steehouwer M, Salomon J, Te Morsche RH, Huch M, Hehir-Kwa JY, Banning MJ, Pfundt R, Roepman R, Hoischen A, Drenth JP.
    Eur J Hum Genet; 2016 Dec 01; 24(12):1707-1714. PubMed ID: 27552964
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  • 10. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
    Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC.
    Am J Hum Genet; 1997 Oct 01; 61(4):843-51. PubMed ID: 9382094
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  • 11. Genetic analysis of 20 families with autosomal dominant adult polycystic kidney disease from South West Thames Region.
    Jeffery S, Saggar-Malik AK, Morgan S, Eastwood JB, Patton M.
    Clin Genet; 1995 Jun 01; 47(6):290-4. PubMed ID: 7554361
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  • 13. A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease.
    Longa L, Scolari F, Brusco A, Carbonara C, Polidoro S, Valzorio B, Riegler P, Migone N, Maiorca R.
    Nephrol Dial Transplant; 1997 Sep 01; 12(9):1900-7. PubMed ID: 9306341
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  • 14. Characterization of microsatellite markers to diagnose ADPKD.
    Bae Y, Kim H, Paik M, Lee J, Hwang D, Hwang Y, Ahn C, Kang S.
    Mol Cell Probes; 2004 Jun 01; 18(3):155-9. PubMed ID: 15135448
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  • 18. Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.
    Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P.
    J Am Soc Nephrol; 1999 Jul 01; 10(7):1524-9. PubMed ID: 10405208
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  • 19. Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
    Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C.
    Hum Mol Genet; 1999 Mar 01; 8(3):509-13. PubMed ID: 9949210
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  • 20. Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
    Afzal AR, Florêncio RN, Taylor R, Patton MA, Saggar-Malik A, Jeffery S.
    Genet Test; 2000 Mar 01; 4(4):365-70. PubMed ID: 11216660
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