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Items: 1 to 20 of 108

1.

The ADPKD genes pkd1a/b and pkd2 regulate extracellular matrix formation.

Mangos S, Lam PY, Zhao A, Liu Y, Mudumana S, Vasilyev A, Liu A, Drummond IA.

Dis Model Mech. 2010 May-Jun;3(5-6):354-65. doi: 10.1242/dmm.003194. Epub 2010 Mar 24.

2.

Polycystins, focal adhesions and extracellular matrix interactions.

Drummond IA.

Biochim Biophys Acta. 2011 Oct;1812(10):1322-6. doi: 10.1016/j.bbadis.2011.03.003. Epub 2011 Mar 9. Review.

3.

Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2).

Khonsari RH, Ohazama A, Raouf R, Kawasaki M, Kawasaki K, Porntaveetus T, Ghafoor S, Hammond P, Suttie M, Odri GA, Sandford RN, Wood JN, Sharpe PT.

Hum Mol Genet. 2013 May 1;22(9):1873-85. doi: 10.1093/hmg/ddt041. Epub 2013 Feb 5.

PMID:
23390131
4.

Modulation of the secretory pathway rescues zebrafish polycystic kidney disease pathology.

Le Corre S, Eyre D, Drummond IA.

J Am Soc Nephrol. 2014 Aug;25(8):1749-59. doi: 10.1681/ASN.2013101060. Epub 2014 Mar 13.

5.

Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.

Choi R, Park HC, Lee K, Lee MG, Kim JW, Ki CS, Hwang YH, Ahn C.

BMC Med Genet. 2014 Dec 10;15:129. doi: 10.1186/s12881-014-0129-y.

6.

Rapamycin-mediated suppression of renal cyst expansion in del34 Pkd1-/- mutant mouse embryos: an investigation of the feasibility of renal cyst prevention in the foetus.

Stayner C, Shields J, Slobbe L, Shillingford JM, Weimbs T, Eccles MR.

Nephrology (Carlton). 2012 Nov;17(8):739-47. doi: 10.1111/j.1440-1797.2012.01639.x.

PMID:
22725947
7.

A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease.

Kurashige M, Hanaoka K, Imamura M, Udagawa T, Kawaguchi Y, Hasegawa T, Hosoya T, Yokoo T, Maeda S.

Clin Genet. 2015 Mar;87(3):266-72. doi: 10.1111/cge.12372. Epub 2014 Apr 3.

PMID:
24611717
8.

Cyst formation in kidney via B-Raf signaling in the PKD2 transgenic mice.

Park EY, Sung YH, Yang MH, Noh JY, Park SY, Lee TY, Yook YJ, Yoo KH, Roh KJ, Kim I, Hwang YH, Oh GT, Seong JK, Ahn C, Lee HW, Park JH.

J Biol Chem. 2009 Mar 13;284(11):7214-22. doi: 10.1074/jbc.M805890200. Epub 2008 Dec 20.

9.

Current advances in molecular genetics of autosomal-dominant polycystic kidney disease.

Wu G.

Curr Opin Nephrol Hypertens. 2001 Jan;10(1):23-31. Review.

PMID:
11195048
10.

Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).

Hoefele J, Mayer K, Scholz M, Klein HG.

Nephrol Dial Transplant. 2011 Jul;26(7):2181-8. doi: 10.1093/ndt/gfq720. Epub 2010 Nov 29.

PMID:
21115670
11.

Genome-wide methylation profiling of ADPKD identified epigenetically regulated genes associated with renal cyst development.

Woo YM, Bae JB, Oh YH, Lee YG, Lee MJ, Park EY, Choi JK, Lee S, Shin Y, Lyu J, Jung HY, Lee YS, Hwang YH, Kim YJ, Park JH.

Hum Genet. 2014 Mar;133(3):281-97. doi: 10.1007/s00439-013-1378-0. Epub 2013 Oct 16.

PMID:
24129831
12.

Cellular activation triggered by the autosomal dominant polycystic kidney disease gene product PKD2.

Arnould T, Sellin L, Benzing T, Tsiokas L, Cohen HT, Kim E, Walz G.

Mol Cell Biol. 1999 May;19(5):3423-34.

13.

Association of PKD2 (polycystin 2) mutations with left-right laterality defects.

Bataille S, Demoulin N, Devuyst O, Audrézet MP, Dahan K, Godin M, Fontès M, Pirson Y, Burtey S.

Am J Kidney Dis. 2011 Sep;58(3):456-60. doi: 10.1053/j.ajkd.2011.05.015. Epub 2011 Jun 29.

PMID:
21719175
14.

Pkd1 is required for male reproductive tract development.

Nie X, Arend LJ.

Mech Dev. 2013 Nov-Dec;130(11-12):567-76. doi: 10.1016/j.mod.2013.07.006. Epub 2013 Aug 9.

15.

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. 2011 Apr;7(4):e1001361. doi: 10.1371/journal.pgen.1001361. Epub 2011 Apr 7.

16.

The role of the polycystins in kidney development.

van Adelsberg JS.

Pediatr Nephrol. 1999 Jun;13(5):454-9. Review.

PMID:
10412869
17.

[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].

Torra R, Badenas C, Pérez-Oller L, San Millán JL, Tellería D, Estivill X, Darnell A.

Nefrologia. 2000 Jan-Feb;20(1):39-46. Spanish.

18.

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. 2013 May;58:199-208. doi: 10.1016/j.yjmcc.2013.01.015. Epub 2013 Jan 30.

19.

Phosphorylation, protein kinases and ADPKD.

Li X.

Biochim Biophys Acta. 2011 Oct;1812(10):1219-24. doi: 10.1016/j.bbadis.2011.03.001. Epub 2011 Mar 15. Review.

20.

A polycystin-centric view of cyst formation and disease: the polycystins revisited.

Ong AC, Harris PC.

Kidney Int. 2015 Oct;88(4):699-710. doi: 10.1038/ki.2015.207. Epub 2015 Jul 22. Review.

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