| 1 | MTOR, PKD1
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| Divergent function of polycystin 1 and polycystin 2 in cell size regulation.2020 PMID:
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| Viau A, Kotsis F, Boehlke C, Braeg S, Klein M, Nitschke R, Walz G, Kuehn EW.
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| Jan 8;521(2):290-295. doi: 10.1016/j.bbrc.2019.10.074. Epub 2019 Oct 24. Biochem Biophys Res Commun. 2020
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| 2 | PKD1, PKD2
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| Polycystin 2: A calcium channel, channel partner, and regulator of calcium homeostasis in ADPKD
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| Brill AL, Ehrlich BE.
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| Cell Signal. Feb;66:109490. doi: 10.1016/j.cellsig.2019.109490. Epub 2019 Dec 2. 2020
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| 3 | PKD1, WWTR1
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| Polycystin-1 regulates bone development through an interaction with the transcriptional coactivator TAZ
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| Merrick D, Mistry K, Wu J, Gresko N, Baggs JE, Hogenesch JB, Sun Z, Caplan MJ.
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| Hum Mol Genet. Jan 1;28(1):16-30. doi: 10.1093/hmg/ddy322. 2019
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| 4 | MYC, PKD1
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| c-Myc is a regulator of the PKD1 gene and PC1-induced pathogenesis
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| Parrot C, Kurbegovic A, Yao G, Couillard M, Côté O, Trudel M.
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| Hum Mol Genet. Mar 1;28(5):751-763. doi: 10.1093/hmg/ddy379. 2019
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| 5 | CDH2, PKD1
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| PKD1 Promotes Functional Synapse Formation Coordinated with N-Cadherin in Hippocampus.
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| Cen C, Luo LD, Li WQ, Li G, Tian NX, Zheng G, Yin DM, Zou Y, Wang Y.
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| J Neurosci 38(1):183-199. doi: 10.1523/JNEUROSCI.1640-17.2017. Epub 2017 Nov 13.
2018
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| 6 | PKD1, PKD2
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| The polycystins are modulated by cellular oxygen-sensing pathways and regulate mitochondrial function
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| Padovano V, Kuo IY, Stavola LK, Aerni HR, Flaherty BJ, Chapin HC, Ma M, Somlo S, Boletta A, Ehrlich BE, Rinehart J, Caplan MJ.
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| Mol Biol Cell. Jan 15;28(2):261-269. doi: 10.1091/mbc.E16-08-0597. Epub 2016 Nov 23. 2017
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| 7 | MTOR, PKD1
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| mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex.
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| Pema M, Drusian L, Chiaravalli M, Castelli M, Yao Q, Ricciardi S, Somlo S, Qian F, Biffo S, Boletta A.
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| Nat Commun 7:10786. doi: 10.1038/ncomms10786.
2016
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| 8 | MYH11, MYLK, PKD1, SOD3, TAGLN
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| Comparison of gene expression profiles in aortic dissection and normal human aortic tissues.
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| Zhang L, Yu C, Chang Q, Luo X, Qiu J, Liu S.
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| Biomed Rep 5(4):421-427. Epub 2016 Aug 9.
2016
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| 9 | GNAT1, NPHP3, PKD1, SRC, UNC119
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| Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3.
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| Jaiswal M, Fansa EK, Kösling SK, Mejuch T, Waldmann H, Wittinghofer A.
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| J Biol Chem 291(39):20766-78. doi: 10.1074/jbc.M116.741827. Epub 2016 Aug 1.
2016
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| 10 | ADAM10, GNA12, PKD1
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| Polycystin-1 and Gα12 regulate the cleavage of E-cadherin in kidney epithelial cells.
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| Xu JX, Lu TS, Li S, Wu Y, Ding L, Denker BM, Bonventre JV, Kong T.
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| Physiol Genomics 47(2):24-32. doi: 10.1152/physiolgenomics.00090.2014. Epub 2014 Dec 9.
2015
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| 11 | ARL6, BBS1, BBS4, BBS5, PKD1, TTC8
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| Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
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| Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J.
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| Hum Mol Genet. 2014
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| 12 | PKD1, PKD2
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| Calpain-mediated proteolysis of polycystin-1 C-terminus induces JAK2 and ERK signal alterations
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| Kim H, Kang AY, Ko AR, Park HC, So I, Park JH, Cheong HI, Hwang YH, Ahn C.
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| Exp Cell Res. Jan 1;320(1):62-8. 2014
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| 13 | PKD1, PKD2
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| Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation
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| Streets AJ, Wessely O, Peters DJ, Ong AC.
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| Hum Mol Genet. May 15;22(10):1924-39. doi: 10.1093/hmg/ddt031. Epub 2013 Feb 5. 2013
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| 14 | JADE1, PKD1
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| Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1.
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| Foy RL, Chitalia VC, Panchenko MV, Zeng L, Lopez D, Lee JW, Rana SV, Boletta A, Qian F, Tsiokas L, Piontek KB, Germino GG, Zhou MI, Cohen HT.
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| Hum Mol Genet 21(26):5456-71. doi: 10.1093/hmg/dds391. Epub 2012 Sep 21.
2012
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| 15 | PKD1, PKD2
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| Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release
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| Mekahli D, Sammels E, Luyten T, Welkenhuyzen K, van den Heuvel LP, Levtchenko EN, Gijsbers R, Bultynck G, Parys JB, De Smedt H, Missiaen L.
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| Cell Calcium. Jun;51(6):452-8. doi: 10.1016/j.ceca.2012.03.002. Epub 2012 Mar 27. 2012
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| 16 | PKD1, STAT3
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| Polycystin-1 regulates STAT activity by a dual mechanism.
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| Talbot JJ, Shillingford JM, Vasanth S, Doerr N, Mukherjee S, Kinter MT, Watnick T, Weimbs T.
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| Proc Natl Acad Sci U S A 108(19):7985-90. Epub 2011 Apr 25.
2011
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| 17 | PCLD1, PCLD2, PKD1, PKD2, PKHD1, PRKCSH, SEC63
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| A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
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| Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S.
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| Nat Genet 43(7):639-47. doi: 10.1038/ng.860.
2011
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| 18 | PKD1
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| Polycystin-1 is required for stereocilia structure but not for mechanotransduction in inner ear hair cells.
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| Steigelman KA, Lelli A, Wu X, Gao J, Lin S, Piontek K, Wodarczyk C, Boletta A, Kim H, Qian F, Germino G, Géléoc GS, Holt JR, Zuo J.
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| J Neurosci. 31(34):12241-50. 2011
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| 19 | PKD1, PKD2
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| A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1.
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| Ward HH, Brown-Glaberman U, Wang J, Morita Y, Alper SL, Bedrick EJ, Gattone VH 2nd, Deretic D, Wandinger-Ness A.
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| Mol Biol Cell 22(18):3289-305. Epub 2011 Jul 20.
2011
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| 20 | 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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| 21 | PKD1, STAT3
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| Pyrimethamine inhibits adult polycystic kidney disease by modulating STAT signaling pathways.
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| Takakura A, Nelson EA, Haque N, Humphreys BD, Zandi-Nejad K, Frank DA, Zhou J.
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| Hum Mol Genet. 20(21):4143-54. 2011
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| 22 | GNA12, PKD1
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| Identification of polycystin-1 and Gα12 binding regions necessary for regulation of apoptosis.
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| Yu W, Ritchie BJ, Su X, Zhou J, Meigs TE, Denker BM.
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| Cell Signal 23(1):213-21. doi: 10.1016/j.cellsig.2010.09.005. Epub 2010 Sep 17.
2011
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| 23 | 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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| 24 | PKD1, PKD2
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| Structure of the EF-hand domain of polycystin-2 suggests a mechanism for Ca2+-dependent regulation of polycystin-2 channel activity.
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| Petri ET, Celic A, Kennedy SD, Ehrlich BE, Boggon TJ, Hodsdon ME.
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| Proc Natl Acad Sci U S A 107(20):9176-81. Epub 2010 May 3.PMID: 20439752 2010
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| 25 | PKD1, PKD2
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| Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site.
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| Chapin HC, Rajendran V, Caplan MJ.
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| Mol Biol Cell 21(24):4338-48. Epub 2010 Oct 27.
2010
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| 26 | PKD1
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| Effect of PKD1 Gene Missense Mutations on Polycystin-1 Membrane Topogenesis.
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| Nims NM, Vassmer D, Maser RL.
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| Biochemistry iochemistry. 2010 Dec 29. [Epub ahead of print]
2010
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| 27 | PKD1
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| Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes.
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| Kurbegovic A, Côté O, Couillard M, Ward CJ, Harris PC, Trudel M.
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| Hum Mol Genet. 19(7):1174-89. 2010
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| 28 | NPHP1, PKD1
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| Nephrocystin-1 forms a complex with polycystin-1 via a polyproline motif/SH3 domain interaction and regulates the apoptotic response in mammals.
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| Wodarczyk C, Distefano G, Rowe I, Gaetani M, Bricoli B, Muorah M, Spitaleri A, Mannella V, Ricchiuto P, Pema M, Castelli M, Casanova AE, Mollica L, Banzi M, Boca M, Antignac C, Saunier S, Musco G, Boletta A.
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| PLoS One 5(9):e12719. doi: 10.1371/journal.pone.0012719.
2010
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| 29 | PKD1
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| Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1.
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| Distefano G, Boca M, Rowe I, Wodarczyk C, Ma L, Piontek KB, Germino GG, Pandolfi PP, Boletta A.
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| Mol Cell Biol 29(9):2359-71. Epub 2009 Mar 2.
2009
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| 30 | PKD1, SSH1
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| Protein kinase D1 regulates cofilin-mediated F-actin reorganization and cell motility through slingshot.
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| Eiseler T, Döppler H, Yan IK, Kitatani K, Mizuno K, Storz P.
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| Nat Cell Biol 11(5):545-56. Epub 2009 Mar 29.
2009
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| 31 | PKD1, PKD2
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| Polycystin-1 C-terminal Cleavage Is Modulated by Polycystin-2 Expression.
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| Bertuccio CA, Chapin HC, Cai Y, Mistry K, Chauvet V, Somlo S, Caplan MJ.
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| J Biol Chem 284(31):21011-26. Epub 2009 Jun 2.
2009
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| 32 | PKD1, PKD2
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| Structural and molecular basis of the assembly of the TRPP2/PKD1 complex.
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| Yu Y, Ulbrich MH, Li MH, Buraei Z, Chen XZ, Ong AC, Tong L, Isacoff EY, Yang J.
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| Proc Natl Acad Sci U S A 106(28):11558-63. Epub 2009 Jun 25.
2009
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| 33 | PKD1, PKD2
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| Polycystin-1 and -2 dosage regulates pressure sensing.
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| Sharif-Naeini R, Folgering JH, Bichet D, Duprat F, Lauritzen I, Arhatte M, Jodar M, Dedman A, Chatelain FC, Schulte U, Retailleau K, Loufrani L, Patel A, Sachs F, Delmas P, Peters DJ, Honoré E.
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| Cell 139(3):587-96.PMID: 19879844 2009
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| 34 | 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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| 35 | 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.
|
| 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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| 36 | PIN1, PKD1, PRKX
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| Protein kinase-X interacts with Pin-1 and Polycystin-1 during mouse kidney development.
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| Li X, Hyink DP, Radbill B, Sudol M, Zhang H, Zheleznova NN, Wilson PD.
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| Kidney Int 76(1):54-62. Epub 2009 Apr 15.PMID: 19367327 2009
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| 37 | PKD1
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| Loss of polycystin-1 causes centrosome amplification and genomic instability.
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| Battini L, Macip S, Fedorova E, Dikman S, Somlo S, Montagna C, Gusella GL.
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| Hum Mol Genet 17(18):2819-33. Epub 2008 Jun 19.
2008
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| 38 | PKD1
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| Novel role for polycystin-1 in modulating cell proliferation through calcium oscillations in kidney cells.
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| Aguiari G, Trimi V, Bogo M, Mangolini A, Szabadkai G, Pinton P, Witzgall R, Harris PC, Borea PA, Rizzuto R, del Senno L.
|
| Cell Prolif 41(3):554-73. Epub 2008 Apr 15.
2008
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| 39 | PKD1, PTRH2
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| Protein kinase D is a positive regulator of Bit1 apoptotic function.
|
| Biliran H, Jan Y, Chen R, Pasquale EB, Ruoslahti E.
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| J Biol Chem 283(42):28029-37. Epub 2008 Aug 14. 2008
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| 40 | PKD1
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| Polycystin-1 C-terminal tail associates with beta-catenin and inhibits canonical Wnt signaling.
|
| Lal M, Song X, Pluznick JL, Di Giovanni V, Merrick DM, Rosenblum ND, Chauvet V, Gottardi CJ, Pei Y, Caplan MJ.
|
| Hum Mol Genet 17(20):3105-17. Epub 2008 Jul 16.
2008
|
| 41 | ARPKD, PKD1, PKD2, PKHD1
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| Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin.
|
| Kim I, Li C, Liang D, Chen XZ, Coffy RJ, Ma J, Zhao P, Wu G.
|
| J Biol Chem 283(46):31559-66. Epub 2008 Sep 9.
2008
|
| 42 | PKD, PKD1, PKD2
|
| Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.
|
| Dedoussis GV, Luo Y, Starremans P, Rossetti S, Ramos AJ, Cantiello HF, Katsareli E, Ziroyannis P, Lamnissou K, Harris PC, Zhou J.
|
| Eur J Clin Invest 38(3):180-90.PMID: 18257781 2008
|
| 43 | PKD, PKD1, PRKX
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| Protein kinase X (PRKX) can rescue the effects of polycystic kidney disease-1 gene (PKD1) deficiency.
|
| Li X, Burrow CR, Polgar K, Hyink DP, Gusella GL, Wilson PD.
|
| Biochim Biophys Acta 1782(1):1-9. Epub 2007 Sep 29.PMID: 17980165 2008
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| 44 | ARPKD, PKD, PKD1, PKD2, PKTS, XYLT2
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| Polycystic disease caused by deficiency in xylosyltransferase 2, an initiating enzyme of glycosaminoglycan biosynthesis.
|
| Condac E, Silasi-Mansat R, Kosanke S, Schoeb T, Towner R, Lupu F, Cummings RD, Hinsdale ME.
|
| Proc Natl Acad Sci U S A 104(22):9416-21. Epub 2007 May 21. 2007
|
| 45 | PKD, PKD1, PKD2, PKHD1
|
| Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway.
|
| 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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| 46 | PKD1
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| Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure.
|
| Yu S, Hackmann K, Gao J, He X, Piontek K, Garc’a Gonz‡lez MA, Menezes LF, Xu H, Germino GG, Zuo J, Qian F.
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| Proc Natl Acad Sci U S A 104(47):18688-93. Epub 2007 Nov 14. 2007
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| 47 | PKD1
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| A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1.
|
| Piontek K, Menezes LF, Garcia-Gonzalez MA, Huso DL, Germino GG.
|
| Nat Med. 13(12):1490-5. 2007
|
| 48 | 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.
|
| 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.
|
| Proc Natl Acad Sci U S A 103(14):5466-71. Epub 2006 Mar 27. 2006
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| 49 | PKD1
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| The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells.
|
| Joly D, Ishibe S, Nickel C, Yu Z, Somlo S, Cantley LG.
|
| J Biol Chem 281(36):26329-39. Epub 2006 Jun 21. 2006
|
| 50 | PKD, PKD1
|
| The polycystic kidney disease-1 gene is a target for p53-mediated transcriptional repression.
|
| Van Bodegom D, Saifudeen Z, Dipp S, Puri S, Magenheimer BS, Calvet JP, El-Dahr SS.
|
| J Biol Chem 281(42):31234-44. Epub 2006 Aug 24. 2006
|
| 51 | PKD1
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| Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction.
|
| Nauli SM, Rossetti S, Kolb RJ, Alenghat FJ, Consugar MB, Harris PC, Ingber DE, Loghman-Adham M, Zhou J.
|
| J Am Soc Nephrol 17(4):1015-25.
2006
|
| 52 | HOMER1, PKD1
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| Polycystin-1 can interact with homer 1/Vesl-1 in postnatal hippocampal neurons.
|
| Stokely ME, Hwang SY, Hwang JY, Fan B, King MA, Inokuchi K, Koulen P.
|
| J Neurosci Res 84(8):1727-37.
2006
|
| 53 | PKD, PKD1, PKD2
|
| Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.
|
| Lantinga-van Leeuwen IS, Leonhard WN, Dauwerse H, Baelde HJ, van Oost BA, Breuning MH, Peters DJ.
|
| Eur J Hum Genet 13(5):649-59. 2005
|
| 54 | PKD1, PKD2, CBY1
|
| Alpha-actinin associates with polycystin-2 and regulates its channel activity.
|
| Li Q, Montalbetti N, Shen PY, Dai XQ, Cheeseman CI, Karpinski E, Wu G, Cantiello HF, Chen XZ.
|
| Hum Mol Genet 14(12):1587-603. Epub 2005 Apr 20. 2005
|
| 55 | PKD1
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| Pkd1 regulates immortalized proliferation of renal tubular epithelial cells through p53 induction and JNK activation.
|
| Nishio S, Hatano M, Nagata M, Horie S, Koike T, Tokuhisa T, Mochizuki T.
|
| J Clin Invest 115(4):910-8. Epub 2005 Mar 3. 2005
|
| 56 | PKD, PKD1
|
| Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.
|
| Peltola P, Lumiaho A, Miettinen R, Pihlajamaki J, Sandford R, Laakso M.
|
| J Mol Med 83(8):638-46. Epub 2005 Mar 17. 2005
|
| 57 | PKD1
|
| The C-terminal tail of the polycystin-1 protein interacts with the Na,K-ATPase alpha-subunit.
|
| Zatti A, Chauvet V, Rajendran V, Kimura T, Pagel P, Caplan MJ.
|
| Mol Biol Cell 16(11):5087-93. Epub 2005 Aug 17. 2005
|
| 58 | PKD, PKD1, PKD2
|
| Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
|
| Boucher C, Sandford R.
|
| Eur J Hum Genet 12(5):347-54. 2004
|
| 59 | PKD1
|
| Depletion of PKD1 by an antisense oligodeoxynucleotide induces premature G1/S-phase transition.
|
| Kim H, Bae Y, Jeong W, Ahn C, Kang S.
|
| Eur J Hum Genet 12(6):433-40. 2004
|
| 60 | PKD, PKD1
|
| Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
|
| 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.
|
| Hum Mol Genet 13(24):3069-77. Epub 2004 Dec 15. 2004
|
| 61 | PKD, PKD1, PKTS, TSC2
|
| Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.
|
| Laass MW, Spiegel M, Jauch A, Hahn G, Rupprecht E, Vogelberg C, Bartsch O, Huebner A.
|
| Pediatr Nephrol 19(6):602-8. Epub 2004 Mar 9. 2004
|
| 62 | PKD1
|
| Siah-1 interacts with the intracellular region of polycystin-1 and affects its stability via the ubiquitin-proteasome pathway.
|
| Kim H, Jeong W, Ahn K, Ahn C, Kang S.
|
| J Am Soc Nephrol. 15(8):2042-9. 2004
|
| 63 | PKD1, PKD2
|
| Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells
|
| Nauli SM, Alenghat FJ, Luo Y, Williams E, Vassilev P, Li X, Elia AE, Lu W, Brown EM, Quinn SJ, Ingber DE, Zhou J.
|
| Nat Genet 33(2):129-37. 2003
|
| 64 | PKD, PKD1, PKD2
|
| Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
|
| 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.
|
| Lancet 361(9376):2196-201. 2003
|
| 65 | PKD1, PKD2
|
| PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.
|
| Bhunia AK, Piontek K, Boletta A, Liu L, Qian F, Xu PN, Germino FJ, Germino GG.
|
| Cell 109(2):157-68. 2002
|
| 66 | PKD1
|
| Functional polycystin-1 expression is developmentally regulated during epithelial morphogenesis in vitro: downregulation and loss of membrane localization during cystogenesis.
|
| O Bukanov N, Husson H, Dackowski WR, Lawrence BD, Clow PA, Roberts BL, Klinger KW, Ibraghimov-Beskrovnaya O.
|
| Hum Mol Genet 11(8):923-36. 2002
|
| 67 | PKD1
|
| Interaction of the leucine-rich repeats of polycystin-1 with extracellular matrix proteins: possible role in cell proliferation.
|
| Malhas AN, Abuknesha RA, Price RG.
|
| J Am Soc Nephrol 13(1):19-26. 2002
|
| 68 | PKD1, PKD2
|
| Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex.
|
| Newby LJ, Streets AJ, Zhao Y, Harris PC, Ward CJ, Ong AC.
|
| J Biol Chem 277(23):20763-73. Epub 2002 Mar 18. 2002
|
| 69 | PKD, PKD1, PKTS, TSC2
|
| Renal disease in adults with TSC2/PKD1 contiguous gene syndrome.
|
| Martignoni G, Bonetti F, Pea M, Tardanico R, Brunelli M, Eble JN.
|
| Am J Surg Pathol 26(2):198-205. 2002
|
| 70 | PKD1, PKD2
|
| Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease.
|
| Wu G, Tian X, Nishimura S, Markowitz GS, D'Agati V, Park JH, Yao L, Li L, Geng L, Zhao H, Edelmann W, Somlo S.
|
| Hum Mol Genet. 11(16):1845-54. 2002
|
| 71 | PKD1
|
| Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development.
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| 97 | PKD, PKD1
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| 99 | 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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| Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains.
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| An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
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| Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p13.3.
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| The sea urchin sperm receptor for egg jelly is a modular protein with extensive homology to the human polycystic kidney disease protein, PKD1.
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| 122 | GFER, PKD1
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| A new human gene located in the PKD1 region of chromosome 16 is a functional homologue to ERV1 of yeast.
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| Analysis of the genomic sequence for the autosomal dominant polycystic kidney disease (PKD1) gene predicts the presence of a leucine-rich repeat.
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| The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16.
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| Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression. Absence of linkage to the PKD1 locus.
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| Bachner L, et al.
|
| Hum Genet 85 : 221-227. 1990
|
| 166 | PKD1
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| Two step procedure for early diagnosis of polycystic kidney disease with polymorphic DNA markers on both sides of the gene.
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| Breuning MH, et al.
|
| J Med Genet 27 : 614-617. 1990
|
| 167 | PKD1, PGP
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| Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).
|
| Breuning MH, et al.
|
| J Med Genet 27 : 603-613. 1990
|
| 168 | PKD1
|
| Childhood manifestation of autosomal dominant polycystic kidney disease: no evidence for genetic heterogeneity.
|
| Gal A, Wirth B, Kaariainen H, Lucotte G, Landais P, Gillessen-Kaesbach G, Muller-Wiefel DE, Zerres K.
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| Clin Genet 35 : 13-19. 1989
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| 169 | PKD1
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| Genetic heterogeneity of polycystic kidney disease: an estimate of the proportion of families unlinked to chromosome 16.
|
| Pieke SA, et al.
|
| Am J Hum Genet 45 : A58. 1989
|
| 170 | PKD1
|
| Map of 13 polymorphic loci on the short arm of chromosome 16 close to the gene for polycystic kidney disease (PKD1).
|
| Breuning MH, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 969. 1989
|
| 171 | PKD1
|
| Genetic and physical mapping of a DNA sequence which shows no recombination with the adult polycystic kidney disease locus (PKD1).
|
| Reeders ST, et al.
|
| Am J Hum Genet 43 : A156. 1988
|
| 172 | PKD1, PKD2
|
| Linkage heterogeneity of autosomal dominant polycystic kidney disease.
|
| Kimberling WJ, et al.
|
| N Engl J Med 319 : 913-918. 1988
|
| 173 | PKD1
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| A second genetic locus for autosomal dominant polycystic kidney disease.
|
| Romeo G, Devoto M, Costa G, Roncuzzi L, Catizone L, Zucchelli P, Germino GG, Keith T, Weatherall DJ, Reeders ST.
|
| Lancet 2(8601):8-11. 1988
|
| 174 | PKD1
|
| Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic.
|
| Ramsay M, et al.
|
| Hum Genet 79 : 73-75. 1988
|
| 175 | PKD1
|
| Regional localization of the autosomal dominant polycystic kidney disease locus.
|
| Reeders ST, et al.
|
| Genomics 3 : 150-155. 1988
|
| 176 | PKD1
|
| Studies of genetic linkage between adult polycystic kidney disease and three markers on chromosome 16.
|
| Watson ML, Wright AF, Macnicol AM, Allan PL, Clayton JF, Dempster M, Jeremiah SJ, Corney G, Hopkinson DA.
|
| J Med Genet 24 : 457-461. 1987
|
| 177 | PKD1
|
| Polycystic kidney disease in children : a genetic and epidemiological study of 82 Finnish patients.
|
| Kaariainen H.
|
| J Med Genet 24 : 474-481. 1987
|
| 178 | PKD1
|
| Localisation of a mutation producing autosomal dominant polycystic kidney disease without renal failure.
|
| Ryynanen M, Dolata MM, Lampainen E, Reeders ST.
|
| J Med Genet 24(8):462-5. 1987
|
| 179 | PKD1
|
| Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population.
|
| Lazarou LP, Davies F, Sarfarazi M, Coles GA, Harper PS.
|
| J Med Genet 24(8):466-73. 1987
|
| 180 | PKD1
|
| A study of genetic linkage heterogeneity in adult polycystic kidney disease.
|
| Reeders ST, Breuning MH, Ryynanen MA, Wright AF, Davies KE, King AW, Watson ML, Weatherall DJ.
|
| Hum Genet 76(4):348-51. 1987
|
| 181 | PKD1
|
| Linkage studies and physical mapping of the autosomal dominant polycystic kidney disease mutation (PKD1).
|
| Reeders ST, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 680. 1987
|
| 182 | PKD1
|
| New probes close to the gene for adult polycystic kidney disease (PKD1) on 16p.
|
| Breuning MH, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 586. 1987
|
| 183 | PKD1
|
| Family studies of adult dominant polycystic kidney disease (PKD 1 locus) using the highly polymorphic probe 3'HVR at HBA locus. Independent locus for the neo-natal recessive disease?
|
| Bachner L, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 574. 1987
|
| 184 | PKD1
|
| Early manifestation of autosomal dominant polycystic kidney disease. No evidence for genetic heterogeneity.
|
| Wirth B, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 718. 1987
|
| 185 | PKD1
|
| Adult polycystic kidney disease is linked to the alpha-globin and phosphoglycolate phosphatase loci on chromosome 16.
|
| Reeders ST, et al.
|
| (HGM8) Cytogenet Cell Genet 40 : 729. 1985
|
| 186 | PKD1
|
| A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.
|
| Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ.
|
| Nature 317(6037):542-4. 1985
|