1 | PKD1, PKD2
|
| Polycystin 2: A calcium channel, channel partner, and regulator of calcium homeostasis in ADPKD
|
| Brill AL, Ehrlich BE.
|
| Cell Signal. Feb;66:109490. doi: 10.1016/j.cellsig.2019.109490. Epub 2019 Dec 2. 2020
|
2 | PKD2, TRPM3
|
| The TRPP2-dependent channel of renal primary cilia also requires TRPM3
|
| Kleene SJ, Siroky BJ, Landero-Figueroa JA, Dixon BP, Pachciarz NW, Lu L, Kleene NK.
|
| PLoS One. Mar 18;14(3):e0214053. doi: 10.1371/journal.pone.0214053. 2019
|
3 | PKD2
|
| External Ca2+ regulates polycystin-2 (TRPP2) cation currents in LLC-PK1 renal epithelial cells
|
| Dai XQ, Perez PL, Soria G, Scarinci N, Smoler M, Morsucci DC, Suzuki K, Cantero MDR, Cantiello HF.
|
| Exp Cell Res. Jan 1;350(1):50-61. doi: 10.1016/j.yexcr.2016.11.004. Epub 2016 Nov 9. 2017
|
4 | PKD1, PKD2
|
| The polycystins are modulated by cellular oxygen-sensing pathways and regulate mitochondrial function
|
| Padovano V, Kuo IY, Stavola LK, Aerni HR, Flaherty BJ, Chapin HC, Ma M, Somlo S, Boletta A, Ehrlich BE, Rinehart J, Caplan MJ.
|
| Mol Biol Cell. Jan 15;28(2):261-269. doi: 10.1091/mbc.E16-08-0597. Epub 2016 Nov 23. 2017
|
5 | PKD2
|
| Conformational dynamics of Ca2+-dependent responses in the polycystin-2 C-terminal tail
|
| Yang Y, Hodsdon ME, Lolis EJ, Ehrlich BE
|
| Biochem J. Feb 1;473(3):285-96. doi: 10.1042/BJ20151031. Epub 2015 Nov 16 2016
|
6 | BBS4, BBS5, PKD2
|
| BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.
|
| Xu Q, Zhang Y, Wei Q, Huang Y, Li Y, Ling K, Hu J.
|
| Sci Rep. Jul 7;5:11855. doi: 10.1038/srep11855. 2015
|
7 | PKD1, PKD2
|
| Calpain-mediated proteolysis of polycystin-1 C-terminus induces JAK2 and ERK signal alterations
|
| Kim H, Kang AY, Ko AR, Park HC, So I, Park JH, Cheong HI, Hwang YH, Ahn C.
|
| Exp Cell Res. Jan 1;320(1):62-8. 2014
|
8 | PKD2
|
| Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy
|
| Paavola J, Schliffke S, Rossetti S, Kuo IY, Yuan S, Sun Z, Harris PC, Torres VE, Ehrlich BE.
|
| J Mol Cell Cardiol. May;58:199-208. doi: 10.1016/j.yjmcc.2013.01.015. Epub 2013 Jan 30. 2013
|
9 | PKD1, PKD2
|
| Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation
|
| Streets AJ, Wessely O, Peters DJ, Ong AC.
|
| Hum Mol Genet. May 15;22(10):1924-39. doi: 10.1093/hmg/ddt031. Epub 2013 Feb 5. 2013
|
10 | FLNA, FLNB, FLNC, PKD2
|
| Structural interaction and functional regulation of polycystin-2 by filamin
|
| Wang Q, Dai XQ, Li Q, Wang Z, Cantero Mdel R, Li S, Shen J, Tu JC, Cantiello H, Chen XZ.
|
| PLoS One. 7(7):e40448. doi: 10.1371/journal.pone.0040448. Epub 2012 Jul 10. 2012
|
11 | PKD1, PKD2
|
| Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release
|
| 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.
|
| Cell Calcium. Jun;51(6):452-8. doi: 10.1016/j.ceca.2012.03.002. Epub 2012 Mar 27. 2012
|
12 | PKD2
|
| Polycystin-2 takes different routes to the somatic and ciliary plasma membrane.
|
| Hoffmeister H, Babinger K, Gürster S, Cedzich A, Meese C, Schadendorf K, Osten L, de Vries U, Rascle A, Witzgall R.
|
| J Cell Biol 192(4):631-45. Epub 2011 Feb 14.
2011
|
13 | PKD1L1, PKD2
|
| Pkd1l1 complexes with Pkd2 on motile cilia and functions to establish the left-right axis.
|
| Kamura K, Kobayashi D, Uehara Y, Koshida S, Iijima N, Kudo A, Yokoyama T, Takeda H.
|
| Development 138(6):1121-9. Epub 2011 Feb 9.
2011
|
14 | PKD1L1, PKD2
|
| Pkd1l1 establishes left-right asymmetry and physically interacts with Pkd2.
|
| Field S, Riley KL, Grimes DT, Hilton H, Simon M, Powles-Glover N, Siggers P, Bogani D, Greenfield A, Norris DP.
|
| Development 138(6):1131-42. Epub 2011 Feb 9.
2011
|
15 | PKD2
|
| A single amino acid residue constitutes the third dimerization domain essential for the assembly and function of the tetrameric polycystin-2 (TRPP2) channel.
|
| Feng S, Rodat-Despoix L, Delmas P, Ong AC.
|
| J Biol Chem 286(21):18994-9000. Epub 2011 Apr 7.
2011
|
16 | ADCY5, HNF1B, PDE4C, PKD2
|
| Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases.
|
| Choi YH, Suzuki A, Hajarnis S, Ma Z, Chapin HC, Caplan MJ, Pontoglio M, Somlo S, Igarashi P.
|
| Proc Natl Acad Sci U S A 108(26):10679-84. Epub 2011 Jun 13.
2011
|
17 | AURKA, PKD2
|
| Aurora A kinase activity influences calcium signaling in kidney cells.
|
| Plotnikova OV, Pugacheva EN, Golemis EA.
|
| J Cell Biol 193(6):1021-32. Erratum in: J Cell Biol. 2011 Jul 11;194(1):157.
2011
|
18 | PCLD1, PCLD2, PKD1, PKD2, PKHD1, PRKCSH, SEC63
|
| A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
|
| Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S.
|
| Nat Genet 43(7):639-47. doi: 10.1038/ng.860.
2011
|
19 | CAMK2A, PKD2
|
| CaMK-II is a PKD2 target that promotes pronephric kidney development and stabilizes cilia.
|
| Rothschild SC, Francescatto L, Drummond IA, Tombes RM.
|
| Development 138(16):3387-97. Epub 2011 Jul 13.
2011
|
20 | PKD2
|
| 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 80(3):287-92. doi: 10.1111/j.1399-0004.2010.01555.x. Epub 2010 Oct 18.
2011
|
21 | PKD1, PKD2
|
| A conserved signal and GTPase complex are required for the ciliary transport of polycystin-1.
|
| Ward HH, Brown-Glaberman U, Wang J, Morita Y, Alper SL, Bedrick EJ, Gattone VH 2nd, Deretic D, Wandinger-Ness A.
|
| Mol Biol Cell 22(18):3289-305. Epub 2011 Jul 20.
2011
|
22 | EXOC5, PKD2
|
| The exocyst protein Sec10 interacts with Polycystin-2 and knockdown causes PKD-phenotypes.
|
| Fogelgren B, Lin SY, Zuo X, Jaffe KM, Park KM, Reichert RJ, Bell PD, Burdine RD, Lipschutz JH.
|
| PLoS Genet 7(4):e1001361. doi: 10.1371/journal.pgen.1001361. Epub 2011 Apr 7.
2011
|
23 | NEK1, PKD2, WWTR1
|
| Nek1 and TAZ interact to maintain normal levels of polycystin 2.
|
| Yim H, Sung CK, You J, Tian Y, Benjamin T.
|
| J Am Soc Nephrol 22(5):832-7. doi: 10.1681/ASN.2010090992. Epub 2011 Apr 7.
2011
|
24 | PKD2, PKD2L1
|
| Identification of the structural motif responsible for trimeric assembly of the C-terminal regulatory domains of polycystin channels PKD2L1 and PKD2.
|
| Molland KL, Narayanan A, Burgner JW, Yernool DA.
|
| Biochem J. 429(1):171-83. 2010
|
25 | PKD, PKD1, PKD2
|
| A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.
|
| 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.
|
| EMBO J 29(7):1176-91. Epub 2010 Feb 18. 2010
|
26 | PKD1, PKD2
|
| Structure of the EF-hand domain of polycystin-2 suggests a mechanism for Ca2+-dependent regulation of polycystin-2 channel activity.
|
| Petri ET, Celic A, Kennedy SD, Ehrlich BE, Boggon TJ, Hodsdon ME.
|
| Proc Natl Acad Sci U S A 107(20):9176-81. Epub 2010 May 3.PMID: 20439752 2010
|
27 | PKD2, RP2
|
| The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
|
| Hurd T, Zhou W, Jenkins P, Liu CJ, Swaroop A, Khanna H, Martens J, Hildebrandt F, Margolis B.
|
| Hum Mol Genet 19(22):4330-44. Epub 2010 Aug 20.
2010
|
28 | INADL, PKD2, TAZ
|
| Polycystin-2 activity is controlled by transcriptional coactivator with PDZ binding motif and PALS1-associated tight junction protein.
|
| Duning K, Rosenbusch D, Schlüter MA, Tian Y, Kunzelmann K, Meyer N, Schulze U, Markoff A, Pavenstädt H, Weide T.
|
| J Biol Chem 285(44):33584-8. Epub 2010 Sep 10.
2010
|
29 | PKD1, PKD2
|
| Polycystin-1 surface localization is stimulated by polycystin-2 and cleavage at the G protein-coupled receptor proteolytic site.
|
| Chapin HC, Rajendran V, Caplan MJ.
|
| Mol Biol Cell 21(24):4338-48. Epub 2010 Oct 27.
2010
|
30 | PKD2
|
| The human polycystin-2 protein represents an integral membrane protein with six membrane-spanning domains and intracellular N- and C-termini.
|
| Hoffmeister H, Gallagher AR, Rascle A, Witzgall R.
|
| Biochem J 433(2):285-94.
2010
|
31 | PKD2
|
| TRPP2 channels regulate apoptosis through the Ca2+ concentration in the endoplasmic reticulum.
|
| Wegierski T, Steffl D, Kopp C, Tauber R, Buchholz B, Nitschke R, Kuehn EW, Walz G, Köttgen M.
|
| EMBO J 28(5):490-9. Epub 2009 Jan 15.
2009
|
32 | PKD2, TRPC1
|
| The multimeric structure of polycystin-2 (TRPP2): structural-functional correlates of homo- and hetero-multimers with TRPC1.
|
| Zhang P, Luo Y, Chasan B, González-Perrett S, Montalbetti N, Timpanaro GA, Cantero Mdel R, Ramos AJ, Goldmann WH, Zhou J, Cantiello HF.
|
| Hum Mol Genet 18(7):1238-51. Epub 2009 Feb 3.
2009
|
33 | PKD1, PKD2
|
| Polycystin-1 C-terminal Cleavage Is Modulated by Polycystin-2 Expression.
|
| Bertuccio CA, Chapin HC, Cai Y, Mistry K, Chauvet V, Somlo S, Caplan MJ.
|
| J Biol Chem 284(31):21011-26. Epub 2009 Jun 2.
2009
|
34 | PKD1, PKD2
|
| Structural and molecular basis of the assembly of the TRPP2/PKD1 complex.
|
| Yu Y, Ulbrich MH, Li MH, Buraei Z, Chen XZ, Ong AC, Tong L, Isacoff EY, Yang J.
|
| Proc Natl Acad Sci U S A 106(28):11558-63. Epub 2009 Jun 25.
2009
|
35 | PKD1, PKD2
|
| Polycystin-1 and -2 dosage regulates pressure sensing.
|
| 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.
|
| Cell 139(3):587-96.PMID: 19879844 2009
|
36 | PKD2, TRPC3, TRPC7
|
| A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7.
|
| Miyagi K, Kiyonaka S, Yamada K, Miki T, Mori E, Kato K, Numata T, Sawaguchi Y, Numaga T, Kimura T, Kanai Y, Kawano M, Wakamori M, Nomura H, Koni I, Yamagishi M, Mori Y.
|
| J Biol Chem 284(49):34400-12. Epub 2009 Oct 7.PMID: 19812035 2009
|
37 | ITPR1, PKD, PKD1, PKD2
|
| 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.
|
| J Biol Chem 284(52):36431-41. Epub 2009 Oct 23.PMID: 19854836 2009
|
38 | PKD2, TRPC1
|
| Formation of a new receptor-operated channel by heteromeric assembly of TRPP2 and TRPC1 subunits.
|
| Bai CX, Giamarchi A, Rodat-Despoix L, Padilla F, Downs T, Tsiokas L, Delmas P.
|
| EMBO Rep 9(5):472-9. Epub 2008 Mar 7.
2008
|
39 | PKD2, HERPUD
|
| Polycystin-2 is regulated by endoplasmic reticulum-associated degradation.
|
| Liang G, Li Q, Tang Y, Kokame K, Kikuchi T, Wu G, Chen XZ.
|
| Hum Mol Genet 17(8):1109-19. Epub 2008 Jan 4. 2008
|
40 | PKD2, STX5
|
| Syntaxin 5 regulates the endoplasmic reticulum channel-release properties of polycystin-2.
|
| Geng L, Boehmerle W, Maeda Y, Okuhara DY, Tian X, Yu Z, Choe CU, Anyatonwu GI, Ehrlich BE, Somlo S.
|
| Proc Natl Acad Sci U S A 105(41):15920-5. Epub 2008 Oct 3.
2008
|
41 | PKD2
|
| Identification and functional characterization of an N-terminal oligomerization domain for polycystin-2.
|
| Feng S, Okenka GM, Bai CX, Streets AJ, Newby LJ, DeChant BT, Tsiokas L, Obara T, Ong AC.
|
| J Biol Chem 283(42):28471-9. Epub 2008 Aug 13. 2008
|
42 | EIF2AK3, PKD2
|
| Polycystin-2 down-regulates cell proliferation via promoting PERK-dependent phosphorylation of eIF2alpha.
|
| Liang G, Yang J, Wang Z, Li Q, Tang Y, Chen XZ.
|
| Hum Mol Genet 17(20):3254-62. Epub 2008 Jul 29.
2008
|
43 | ARPKD, PKD1, PKD2, PKHD1
|
| 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
|
44 | 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
|
45 | PKD2
|
| The subcellular localization of TRPP2 modulates its function.
|
| Fu X, Wang Y, Schetle N, Gao H, Pütz M, von Gersdorff G, Walz G, Kramer-Zucker AG.
|
| J Am Soc Nephrol 19(7):1342-51. Epub 2008 Apr 16.PMID: 18417723 2008
|
46 | ARPKD, PKD, PKD1, PKD2, PKTS, XYLT2
|
| 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
|
47 | 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.
|
| Hum Mol Genet 16(16):1940-50. Epub 2007 Jun 16. 2007
|
48 | HAVCR1, PKD2
|
| Ciliary calcium signaling is modulated by kidney injury molecule-1 (Kim1).
|
| Kotsis F, Nitschke R, Boehlke C, Bashkurov M, Walz G, Kuehn EW.
|
| Pflugers Arch 453(6):819-29. Epub 2007 Jan 5. 2007
|
49 | HAVCR1, PKD2
|
| Kidney injury molecule 1 (Kim1) is a novel ciliary molecule and interactor of polycystin 2.
|
| Kuehn EW, Hirt MN, John AK, Muehlenhardt P, Boehlke C, Pütz M, Kramer-Zucker AG, Bashkurov M, van de Weyer PS, Kotsis F, Walz G.
|
| Biochem Biophys Res Commun 364(4):861-6. Epub 2007 Oct 26.
2007
|
50 | PKD2
|
| Regulation of ryanodine receptor-dependent calcium signaling by polycystin-2.
|
| Anyatonwu GI, Estrada M, Tian X, Somlo S, Ehrlich BE.
|
| Proc Natl Acad Sci U S A. 104(15):6454-9. 2007
|
51 | PKD2
|
| Polycystin-2 cation channel function is under the control of microtubular structures in primary cilia of renal epithelial cells.
|
| Li Q, Montalbetti N, Wu Y, Ramos A, Raychowdhury MK, Chen XZ, Cantiello HF.
|
| J Biol Chem 281(49):37566-75. Epub 2006 Sep 1.
2006
|
52 | PKD2
|
| Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro.
|
| Streets AJ, Moon DJ, Kane ME, Obara T, Ong AC.
|
| Hum Mol Genet 15(9):1465-73. Epub 2006 Mar 21. 2006
|
53 | PKD2
|
| PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
|
| Chung W, Kim H, Hwang YH, Kim SY, Ko AR, Ro H, Lee KB, Lee JS, Oh KH, Ahn C.
|
| Clin Genet 70(6):502-8. 2006
|
54 | PKD2
|
| Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells.
|
| Grimm DH, Karihaloo A, Cai Y, Somlo S, Cantley LG, Caplan MJ.
|
| J Biol Chem 281(1):137-44. Epub 2005 Nov 8. 2006
|
55 | PKD2
|
| Polycystin-2 traffics to cilia independently of polycystin-1 by using an N-terminal RVxP motif.
|
| Geng L, Okuhara D, Yu Z, Tian X, Cai Y, Shibazaki S, Somlo S.
|
| J Cell Sci 119(Pt 7):1383-95. Epub 2006 Mar 14. 2006
|
56 | KIF3B, PKD2, PKHD1
|
| Kinesin-2 mediates physical and functional interactions between polycystin-2 and fibrocystin.
|
| Wu Y, Dai XQ, Li Q, Chen CX, Mai W, Hussain Z, Long W, Montalbetti N, Li G, Glynne R, Wang S, Cantiello HF, Wu G, Chen XZ.
|
| Hum Mol Genet 15(22):3280-92. Epub 2006 Sep 28.
2006
|
57 | 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
|
58 | 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
|
59 | PKD2
|
| A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.
|
| Hackmann K, Markoff A, Qian F, Bogdanova N, Germino GG, Pennekamp P, Dworniczak B, Horst J, Gerke V.
|
| Hum Mol Genet 14(21):3249-62. Epub 2005 Sep 28. 2005
|
60 | PKD2
|
| PKD2 functions as an epidermal growth factor-activated plasma membrane channel.
|
| Ma R, Li WP, Rundle D, Kong J, Akbarali HI, Tsiokas L.
|
| Mol Cell Biol. 25(18):8285-98. 2005
|
61 | ITPR1, PKD2
|
| Polycystin 2 interacts with type I inositol 1,4,5-trisphosphate receptor to modulate intracellular Ca2+ signaling.
|
| Li Y, Wright JM, Qian F, Germino GG, Guggino WB.
|
| J Biol Chem 280(50):41298-306. Epub 2005 Oct 13. 2005
|
62 | MCOLN1, MCOLN2, MCOLN3, PKD2
|
| Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2).
|
| Qian F, Noben-Trauth K.
|
| Pflugers Arch 451(1):277-85. Epub 2005 Jun 22. Review.
2005
|
63 | PKD2
|
| Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.
|
| Köttgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, Huber TB, Schermer B, Kramer-Zucker A, Höpker K, Simmen KC, Tschucke CC, Sandford R, Kim E, Thomas G, Walz G.
|
| EMBO J. 24(4):705-16. 2005
|
64 | ACTN2, PKD2
|
| 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
|
65 | 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
|
66 | CBY1, PKD2, GOLGA2
|
| PIGEA-14, a novel coiled-coil protein affecting the intracellular distribution of polycystin-2.
|
| Hidaka S, Konecke V, Osten L, Witzgall R.
|
| J Biol Chem 279(33):35009-16. Epub 2004 Jun 12. 2004
|
67 | IFT20, PKD2, PCNT
|
| Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly.
|
| Jurczyk A, Gromley A, Redick S, San Agustin J, Witman G, Pazour GJ, Peters DJ, Doxsey S.
|
| J Cell Biol 166(5):637-43. 2004
|
68 | 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
|
69 | 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
|
70 | PKD2
|
| Polycystin-2 associates with tropomyosin-1, an actin microfilament component.
|
| Li Q, Dai Y, Guo L, Liu Y, Hao C, Wu G, Basora N, Michalak M, Chen XZ.
|
| J Mol Biol. 325(5):949-62. 2003
|
71 | PKD2
|
| Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells.
|
| Qian Q, Hunter LW, Li M, Marin-Padilla M, Prakash YS, Somlo S, Harris PC, Torres VE, Sieck GC.
|
| Hum Mol Genet. 12(15):1875-80. 2003
|
72 | PKD2
|
| Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells.
|
| Scheffers MS, Le H, van der Bent P, Leonhard W, Prins F, Spruit L, Breuning MH, de Heer E, Peters DJ.
|
| Hum Mol Genet 11(1):59-67. 2002
|
73 | 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
|
74 | 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
|
75 | 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
|
76 | PKD2
|
| Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel.
|
| Gonzalez-Perret S, Kim K, Ibarra C, Damiano AE, Zotta E, Batelli M, Harris PC, Reisin IL, Arnaout MA, Cantiello HF.
|
| Proc Natl Acad Sci U S A 98(3):1182-7. 2001
|
77 | PKD2
|
| Mutations of the human polycystic kidney disease 2 (PKD2) gene.
|
| Deltas CC.
|
| Hum Mutat 18(1):13-24. 2001
|
78 | PKD1, PKD2
|
| Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.
|
| Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y.
|
| Nat Genet 25(2):143-4. 2000
|
79 | PKD2
|
| Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene.
|
| Foggensteiner L, Bevan AP, Thomas R, Coleman N, Boulter C, Bradley J, Ibraghimov-Beskrovnaya O, Klinger K, Sandford R.
|
| J Am Soc Nephrol 11(5):814-27. 2000
|
80 | PKD1, PKD2
|
| Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents.
|
| Hanaoka K, Qian F, Boletta A, Bhunia AK, Piontek K, Tsiokas L, Sukhatme VP, Guggino WB, Germino GG.
|
| Nature 408(6815):990-4. 2000
|
81 | CD2AP, PKD2
|
| In vivo interaction of the adapter protein CD2-associated protein with the type 2 polycystic kidney disease protein, polycystin-2.
|
| Lehtonen S, Ora A, Olkkonen VM, Geng L, Zerial M, Somlo S, Lehtonen E.
|
| J Biol Chem. 275(42):32888-93. 2000
|
82 | PKD2
|
| The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton.
|
| Gallagher AR, Cedzich A, Gretz N, Somlo S, Witzgall R.
|
| Proc Natl Acad Sci U S A. 97(8):4017-22. 2000
|
83 | PKD2
|
| Cardiac defects and renal failure in mice with targeted mutations in Pkd2.
|
| Wu G, Markowitz GS, Li L, D'Agati VD, Factor SM, Geng L, Tibara S, Tuchman J, Cai Y, Park JH, van Adelsberg J, Hou H Jr, Kucherlapati R, Edelmann W, Somlo S.
|
| Nat Genet. 24(1):75-8. 2000
|
84 | PKD2
|
| Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.
|
| Koptides M, et al.
|
| Hum Mol Genet 8 : 509-513. 1999
|
85 | PKD2, TRPC1
|
| Specific association of the gene product of PKD2 with the TRPC1 channel.
|
| Tsiokas L, Arnould T, Zhu C, Kim E, Walz G, Sukhatme VP
|
| Proc Natl Acad Sci U S A 96(7):3934-9. 1999
|
86 | PKD2
|
| Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.
|
| Torra R, et al.
|
| Kidney Int 56(1):28-33. 1999
|
87 | PKD2
|
| 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, et al.
|
| J Am Soc Nephrol 10(7):1524-9 1999
|
88 | PKD2
|
| Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene.
|
| Kim UK, et al.
|
| Mol Cell Probes 13(3):247-50 1999
|
89 | PKD2
|
| A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.
|
| Torra R, et al.
|
| Am J Hum Genet 65(2):345-52 1999
|
90 | PKD, PKD1, PKD2
|
| Somatic Mutation as Mechanism for Cyst Formation in Autosomal Dominant Polycystic Kidney Disease.
|
| Qian F, et al.
|
| Mol Genet Metab 68(2):237-242. No abstract available 1999
|
91 | PKD1, PKD2
|
| Autosomal dominant polycystic kidney disease: clues to pathogenesis.
|
| Harris PC.
|
| Hum Mol Genet 8(10 REVIEW ISSUE):1861-6 1999
|
92 | PKD, PKD1, PKD2, PKD2L1, PKD2L2, PKDREJ
|
| Genes homologous to the autosomal dominant polycystic kidney disease genes.
|
| Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH, Peters DJ.
|
| Eur J Hum Genet 7(8):860-72 1999
|
93 | PKD2
|
| 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 10(11):2342-51 1999
|
94 | PKD2
|
| Identification and characterization of polycystin-2, the PKD2 gene product.
|
| Cai Y, Maeda Y, Cedzich A, Torres VE, Wu G, Hayashi T, Mochizuki T, Park JH, Witzgall R, Somlo S.
|
| J Biol Chem 274(40):28557-65. 1999
|
95 | PKD2
|
| A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.
|
| Pei Y, et al.
|
| Kidney Int 53 : 1127-1132. 1998
|
96 | PKD2
|
| A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.
|
| Pei Y, et al.
|
| J Am Soc Nephrol 9 : 1853-1860. 1998
|
97 | PKD2
|
| A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease 2 gene (PDK2).
|
| Xenophontos S, Constantinides R, Hayashi T, Mochizuki T, Somlo S, Pierides A, Deltas CC.
|
| Hum Mol Genet 6(6):949-52. 1997
|
98 | PKD1, PKD2
|
| PKD1 interacts with PKD2 through a probable coiled-coil domain.
|
| Qian F, Germino FJ, Cai Y, Zhang X, Somlo S, Germino GG.
|
| Nat Genet 16(2):179-83. 1997
|
99 | PKD1, PKD2
|
| Homo-and heterodimeric interactions between the gene products of PKD1 and PKD2.
|
| Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G.
|
| Proc Natl Acad Sci U S A 94(13):6965-70. 1997
|
100 | PKD2
|
| Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2).
|
| Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S.
|
| Genomics 44(1):131-6. 1997
|
101 | PKD2
|
| A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).
|
| Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Norby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ.
|
| Am J Hum Genet 61(3):547-55. 1997
|
102 | PKD2
|
| Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.
|
| Viribay M, Hayashi T, Telleria D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millan JL.
|
| Hum Genet 101(2):229-34. 1997
|
103 | PKD2
|
| Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2.
|
| Tsiokas L, Kim E, Arnould T, Sukhatme VP, Walz G.
|
| Proc Natl Acad Sci U S A. 94(13):6965-70. 1997
|
104 | PKD2
|
| Molecular cloning, cDNA sequence analysis, and chromosomal localization of mouse Pkd2.
|
| Wu G, Mochizuki T, Le TC, Cai Y, Hayashi T, Reynolds DM, Somlo S.
|
| Genomics. 45(1):220-3. 1997
|
105 | PKD2
|
| A gene similar to PKD1 to chromosome 4q22 : a candidate gene for PKD2.
|
| Schneider MC, et al.
|
| Genomics 38 : 1-4. 1996
|
106 | PKD2
|
| PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.
|
| Mochizuki T, et al.
|
| Science 272 : 1339-1342. 1996
|
107 | PKD1, PKD2
|
| Evidence for a third genetic locus for autosomal dominant polycystic kidney disease.
|
| Daoust MC, et al.
|
| Genomics 25 : 733-736. 1995
|
108 | D4S1544, D4S2458, PKD2
|
| Dinucleotide repeat polymorphism at the D4S2458 locus close to the PKD2 locus on human chromosome 4q.
|
| Viribay M, et al.
|
| Hum Genet 95 : 601-602. 1995
|
109 | PKD1, PKD2
|
| DNA microsatellite analysis of families with autosomal dominant polycystic kidney disease types 1 and 2 : evaluation of clinical heterogeneity between both forms of the disease.
|
| Coto E, et al.
|
| J Med Genet 32 : 442-445. 1995
|
110 | PKD2
|
| A family with autosomal dominant polycystic kidney disease linked to 4q21-23.
|
| Jeffery S, et al.
|
| J Med Genet 32 : 493-494. 1995
|
111 | PKD2
|
| Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.
|
| San Millan JL, et al.
|
| Am J Hum Genet 56 : 248-253. 1995
|
112 | PKD2, ARPKD
|
| Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4.
|
| Zerres K, et al.
|
| Hum Genet 93 : 697-698. 1994
|
113 | PKD2
|
| Autosomal dominant polycystic Kidney disease : localization of the second gene to chromosome 4q13-q23.
|
| Kimberling WJ, et al.
|
| Genomics 18 : 467-472. 1993
|
114 | PKD2
|
| Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease.
|
| Peters DJM, et al.
|
| Nat Genet 5 : 359-362. 1993
|
115 | PKD1, PKD2
|
| Linkage heterogeneity of autosomal dominant polycystic kidney disease.
|
| Kimberling WJ, et al.
|
| N Engl J Med 319 : 913-918. 1988
|