| 1 | PKD, PKD1, STAT6, TPX2
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| Signal transducer and activator of transcription-6 (STAT6) inhibition suppresses renal cyst growth in polycystic kidney disease.
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| Olsan EE, Mukherjee S, Wulkersdorfer B, Shillingford JM, Giovannone AJ, Todorov G, Song X, Pei Y, Weimbs T.
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| Proc Natl Acad Sci U S A 108(44):18067-72. doi: 10.1073/pnas.1111966108. Epub 2011 Oct 24.
2011
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| 2 | PKD, PKD1, PKD2
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| A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.
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| Giamarchi A, Feng S, Rodat-Despoix L, Xu Y, Bubenshchikova E, Newby LJ, Hao J, Gaudioso C, Crest M, Lupas AN, Honoré E, Williamson MP, Obara T, Ong AC, Delmas P.
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| EMBO J 29(7):1176-91. Epub 2010 Feb 18. 2010
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| 3 | MTOR, PKD, PKD1, TSC2
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| Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1.
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| Zhou J, Brugarolas J, Parada LF.
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| Hum Mol Genet 18(22):4428-41. Epub 2009 Aug 19.PMID: 19692352 2009
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| 4 | ITPR1, PKD, PKD1, PKD2
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| Polycystin-1 interacts with inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling with implications for polycystic kidney disease.
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| Li Y, Santoso NG, Yu S, Woodward OM, Qian F, Guggino WB.
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| J Biol Chem 284(52):36431-41. Epub 2009 Oct 23.PMID: 19854836 2009
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| 5 | PKD, PKD1, PKD2
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| Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.
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| Dedoussis GV, Luo Y, Starremans P, Rossetti S, Ramos AJ, Cantiello HF, Katsareli E, Ziroyannis P, Lamnissou K, Harris PC, Zhou J.
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| Eur J Clin Invest 38(3):180-90.PMID: 18257781 2008
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| 6 | PKD, PKD1, PRKX
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| Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency.
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| Li X, Burrow CR, Polgar K, Hyink DP, Gusella GL, Wilson PD.
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| Biochim Biophys Acta 1782(1):1-9. Epub 2007 Sep 29.PMID: 17980165 2008
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| 7 | ARPKD, PKD, PKD1, PKD2, PKTS, XYLT2
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| Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
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| Condac E, Silasi-Mansat R, Kosanke S, Schoeb T, Towner R, Lupu F, Cummings RD, Hinsdale ME.
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| Proc Natl Acad Sci U S A 104(22):9416-21. Epub 2007 May 21. 2007
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| 8 | PKD, PKD1, PKD2, PKHD1
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| Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.
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| Garcia-Gonzalez MA, Menezes LF, Piontek KB, Kaimori J, Huso DL, Watnick T, Onuchic LF, Guay-Woodford LM, Germino GG.
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| Hum Mol Genet 16(16):1940-50. Epub 2007 Jun 16. 2007
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| 9 | MTOR, PKD, PKD1, TSC2
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| The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease.
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| Shillingford JM, Murcia NS, Larson CH, Low SH, Hedgepeth R, Brown N, Flask CA, Novick AC, Goldfarb DA, Kramer-Zucker A, Walz G, Piontek KB, Germino GG, Weimbs T.
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| Proc Natl Acad Sci U S A 103(14):5466-71. Epub 2006 Mar 27. 2006
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| 10 | PKD, PKD1
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| The polycystic kidney disease-1 gene is a target for p53-mediated transcriptional repression.
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| Van Bodegom D, Saifudeen Z, Dipp S, Puri S, Magenheimer BS, Calvet JP, El-Dahr SS.
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| J Biol Chem 281(42):31234-44. Epub 2006 Aug 24. 2006
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| 11 | PKD, PKD1, PKD2
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| Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.
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| Lantinga-van Leeuwen IS, Leonhard WN, Dauwerse H, Baelde HJ, van Oost BA, Breuning MH, Peters DJ.
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| Eur J Hum Genet 13(5):649-59. 2005
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| 12 | PKD, PKD1
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| Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
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| Peltola P, Lumiaho A, Miettinen R, Pihlajamaki J, Sandford R, Laakso M.
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| J Mol Med 83(8):638-46. Epub 2005 Mar 17. 2005
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| 13 | PKD, PKD1, PKD2
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| Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
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| Boucher C, Sandford R.
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| Eur J Hum Genet 12(5):347-54. 2004
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| 14 | PKD, PKD1
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| Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
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| Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ, Leonhard WN, van de Wal A, Ward CJ, Verbeek S, Deruiter MC, Breuning MH, de Heer E, Peters DJ.
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| Hum Mol Genet 13(24):3069-77. Epub 2004 Dec 15. 2004
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| 15 | PKD, PKD1, PKTS, TSC2
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| Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.
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| Laass MW, Spiegel M, Jauch A, Hahn G, Rupprecht E, Vogelberg C, Bartsch O, Huebner A.
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| Pediatr Nephrol 19(6):602-8. Epub 2004 Mar 9. 2004
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| 16 | PKD, PKD1, PKD2
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| Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
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| Rossetti S, Chauveau D, Kubly V, Slezak JM, Saggar-Malik AK, Pei Y, Ong AC, Stewart F, Watson ML, Bergstralh EJ, Winearls CG, Torres VE, Harris PC.
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| Lancet 361(9376):2196-201. 2003
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| 17 | PKD, PKD1, PKTS, TSC2
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| Renal disease in adults with TSC2/PKD1 contiguous gene syndrome.
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| Martignoni G, Bonetti F, Pea M, Tardanico R, Brunelli M, Eble JN.
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| Am J Surg Pathol 26(2):198-205. 2002
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| 18 | PKD, PKD1
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| Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.
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| Koptides M, Mean R, Demetriou K, Pierides A, Deltas CC.
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| Hum Mol Genet 9(3):447-452 2000
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| 19 | PKD, PKD1
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| Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1.
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| Ibraghimov-Beskrovnaya O, Bukanov NO, Donohue LC, Dackowski WR, Klinger KW, Landes GM.
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| Hum Mol Genet 9(11):1641-9. 2000
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| 20 | PKD, PKD1
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| Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells.
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| Scheffers MS, van der Bent P, Prins F, Spruit L, Breuning MH, Litvinov SV, de Heer E, Peters DJ.
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| Hum Mol Genet 9(18):2743-50. 2000
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| 21 | PKD, PKD1
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| The structure of a PKD domain from polycystin-1: implications for polycystic kidney disease.
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| Bycroft M, et al.
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| EMBO J 18(2):297-305. 1999
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| 22 | PKD, PKD1
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| The polycystic kidney disease 1 gene product modulates Wnt signaling.
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| Kim E, et al.
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| J Biol Chem 274(8):4947-53. 1999
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| 23 | PKD, PKD1
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| Identification of Mutations in the Repeated Part of the Autosomal Dominant Polycystic Kidney Disease Type 1 Gene, PKD1, by Long-Range PCR.
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| Thomas R, et al.
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| Am J Hum Genet 65(1):39-49. 1999
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| 24 | PKD, PKD1, PKD2
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| Somatic Mutation as Mechanism for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease.
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| Qian F, et al.
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| Mol Genet Metab 68(2):237-242. No abstract available 1999
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| 25 | PKD, PKD1
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| Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
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| Watnick T, Phakdeekitcharoen B, Johnson A, Gandolph M, Wang M, Briefel G, Klinger KW, Kimberling W, Gabow P, Germino GG.
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| Am J Hum Genet 65(6):1561-71 1999
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| 26 | PKD, PKD1, PKD2, PKD2L1, PKD2L2, PKDREJ
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| Genes homologous to the autosomal dominant polycystic kidney disease genes.
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| Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH, Peters DJ.
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| Eur J Hum Genet 7(8):860-72 1999
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| 27 | PKD, PKD1
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| Novel and recurrent mutations in the PKD1 (Polycystic Kidney disease) gene.
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| Daniells C, Maheshwar M, Lazarou L, Davies F, Coles G, Ravine D.
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| Hum Genet 102(2):216-20. 1998
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| 28 | PKD, PKD1
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| Loss of heterozygosity in polycystic kidney disease with a missense mutation in the repeated region of PKD1.
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| Koptides M, Constantinides R, Kyriakides G, Hadjigavriel M, Patsalis PC, Pierides A, Deltas CC.
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| Hum Genet 103 : 709-717. 1998
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| 29 | PKD, PKD1
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| The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro.
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| Parnell SC, Magenheimer BS, Maser RL, Rankin CA, Smine A, Okamoto T, Calvet JP.
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| Biochem Biophys Res Commun 251 : 625-631. 1998
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| 30 | PKD, PKD1
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| Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.
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| Brasier JL, et al.
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| J Clin Invest 99 : 194-199. 1997
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| 31 | PKD, PKD1
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| New amino acid polymorphism, Ala/Val4058, in exon 45 of the polycystic kidney disease 1 gene: evolution of alleles.
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| Constantinides R, Xenophontos S, Neophytou P, Nomura S, Pierides A, Deltas CC.
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| Hum Genet 99(5):644-7. 1997
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| 32 | PKD, PKD1
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| Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.
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| Peral B, Gamble V, Strong C, Ong AC, Sloane-Stanley J, Zerres K, Winearls CG, Harris PC.
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| Am J Hum Genet 60(6):1399-410. 1997
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| 33 | PKD, PKD1
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| Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation. Rapid communication.
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| Torra R, Badenas C, Darnell A, Bru C, Escorsell A, Estivill X.
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| Kidney Int 52(1):33-8. 1997
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| 34 | PKD, PKD1
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| Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
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| Turco AE, Rossetti S, Bresin E, Englisch S, Corra S, Pignatti PF.
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| Hum Mutat 10(2):164-7. No abstract available. 1997
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| 35 | PKD, PKD1, PKTS, TSC2
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| Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
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| Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, Roy S, Haan E, Bernstein J, Harris PC.
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| Am J Hum Genet 61(4):843-51. 1997
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| 36 | PKD, PKD1
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| Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
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| Ward CJ, et al.
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| Proc Natl Acad Sci U S A 93 : 1524-1528. 1996
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| 37 | PKD, PKD1
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| A stable, nonsense mutation associated with a case of infantile onset polycystic kidney disease 1 (PKD1).
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| Peral B, et al.
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| Hum Mol Genet 5 : 539-542. 1996
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| 38 | PKD, PKD1
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| Detection of a novel nonsense mutation and an intragenic pomymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease.
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| Neophytou P, et al.
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| Hum Genet 98 : 437-442. 1996
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| 39 | PKD, PKD1
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| Dysregulation of cellular proliferation and apoptosis mediates human autosomal dominant polycystic kidney disease (ADPKD).
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| Lanoix J, et al.
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| Oncogene 13 : 1153-1160. 1996
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| 40 | PKD, PKD1
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| The molecular basis of focal cyst formation in human autosomal dominant polycystic kidney disease type I.
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| Qian F, et al.
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| Cell 87 : 979-987. 1996
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| 41 | PKD, PKD1
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| Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion.
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| Peral B, et al.
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| Hum Mol Genet 4 : 569-574. 1995
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| 42 | PKD, PKD1
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| Polycystic kidney disease : the complete structure of the PKD1 gene and its protein.
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| The International Polycystic Kidney Disease Consortium.
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| Cell 81 : 289-298. 1995
|