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The tuberous sclerosis proteins regulate formation of the primary cilium via a rapamycin-insensitive and polycystin 1-independent pathway.

Hartman TR, Liu D, Zilfou JT, Robb V, Morrison T, Watnick T, Henske EP.

Hum Mol Genet. 2009 Jan 1;18(1):151-63. doi: 10.1093/hmg/ddn325. Epub 2008 Oct 9.


Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis.

Bonnet CS, Aldred M, von Ruhland C, Harris R, Sandford R, Cheadle JP.

Hum Mol Genet. 2009 Jun 15;18(12):2166-76. doi: 10.1093/hmg/ddp149. Epub 2009 Mar 25.


Carboxy terminal tail of polycystin-1 regulates localization of TSC2 to repress mTOR.

Dere R, Wilson PD, Sandford RN, Walker CL.

PLoS One. 2010 Feb 16;5(2):e9239. doi: 10.1371/journal.pone.0009239.


Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway.

DiBella LM, Park A, Sun Z.

Hum Mol Genet. 2009 Feb 15;18(4):595-606. doi: 10.1093/hmg/ddn384. Epub 2008 Nov 13.


Human ADPKD primary cyst epithelial cells with a novel, single codon deletion in the PKD1 gene exhibit defective ciliary polycystin localization and loss of flow-induced Ca2+ signaling.

Xu C, Rossetti S, Jiang L, Harris PC, Brown-Glaberman U, Wandinger-Ness A, Bacallao R, Alper SL.

Am J Physiol Renal Physiol. 2007 Mar;292(3):F930-45. Epub 2006 Nov 7.


Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.

Back SJ, Andronikou S, Kilborn T, Kaplan BS, Darge K.

Pediatr Radiol. 2015 Mar;45(3):386-95. doi: 10.1007/s00247-014-3147-1. Epub 2014 Oct 30.


Regulation of ciliary trafficking of polycystin-2 and the pathogenesis of autosomal dominant polycystic kidney disease.

Cai Y, Tang Z.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2010 Feb;35(2):93-9. doi: 10.3969/j.issn.1672-7347.2010.02.001. Review.


Polycystin-1, STAT6, and P100 function in a pathway that transduces ciliary mechanosensation and is activated in polycystic kidney disease.

Low SH, Vasanth S, Larson CH, Mukherjee S, Sharma N, Kinter MT, Kane ME, Obara T, Weimbs T.

Dev Cell. 2006 Jan;10(1):57-69.


Inactivation of max-interacting protein 1 induces renal cilia disassembly through reduction in levels of intraflagellar transport 20 in polycystic kidney.

Ko JY, Yoo KH, Song SA, Kim DY, Kong HK, Ahn C, Lee HW, Kang DH, Oh GT, Park JH.

J Biol Chem. 2013 Mar 1;288(9):6488-97. doi: 10.1074/jbc.M112.413302. Epub 2013 Jan 13.


The native TRPP2-dependent channel of murine renal primary cilia.

Kleene SJ, Kleene NK.

Am J Physiol Renal Physiol. 2017 Jan 1;312(1):F96-F108. doi: 10.1152/ajprenal.00272.2016. Epub 2016 Oct 19.


A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.

Pritchard L, Sloane-Stanley JA, Sharpe JA, Aspinwall R, Lu W, Buckle V, Strmecki L, Walker D, Ward CJ, Alpers CE, Zhou J, Wood WG, Harris PC.

Hum Mol Genet. 2000 Nov 1;9(18):2617-27.


Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis.

Li C, Zhang E, Sun Y, Lee PS, Zhan Y, Guo Y, Osorio JC, Rosas IO, Xu KF, Kwiatkowski DJ, Yu JJ.

PLoS One. 2014 Oct 27;9(10):e104809. doi: 10.1371/journal.pone.0104809. eCollection 2014.


Nedd9 restrains renal cystogenesis in Pkd1-/- mice.

Nikonova AS, Plotnikova OV, Serzhanova V, Efimov A, Bogush I, Cai KQ, Hensley HH, Egleston BL, Klein-Szanto A, Seeger-Nukpezah T, Golemis EA.

Proc Natl Acad Sci U S A. 2014 Sep 2;111(35):12859-64. doi: 10.1073/pnas.1405362111. Epub 2014 Aug 19.


Reduced ciliary polycystin-2 in induced pluripotent stem cells from polycystic kidney disease patients with PKD1 mutations.

Freedman BS, Lam AQ, Sundsbak JL, Iatrino R, Su X, Koon SJ, Wu M, Daheron L, Harris PC, Zhou J, Bonventre JV.

J Am Soc Nephrol. 2013 Oct;24(10):1571-86. doi: 10.1681/ASN.2012111089. Epub 2013 Sep 5.


mTORC1-mediated inhibition of polycystin-1 expression drives renal cyst formation in tuberous sclerosis complex.

Pema M, Drusian L, Chiaravalli M, Castelli M, Yao Q, Ricciardi S, Somlo S, Qian F, Biffo S, Boletta A.

Nat Commun. 2016 Mar 2;7:10786. doi: 10.1038/ncomms10786.


Regulation of mTOR by polycystin-1: is polycystic kidney disease a case of futile repair?

Weimbs T.

Cell Cycle. 2006 Nov 1;5(21):2425-9. Epub 2006 Sep 13. Review.


Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

Cabrera-López C, Bullich G, Martí T, Català V, Ballarín J, Bissler JJ, Harris PC, Ars E, Torra R.

BMC Med Genet. 2015 Jun 17;16:39. doi: 10.1186/s12881-015-0185-y.


Polycystin-1 regulates extracellular signal-regulated kinase-dependent phosphorylation of tuberin to control cell size through mTOR and its downstream effectors S6K and 4EBP1.

Distefano G, Boca M, Rowe I, Wodarczyk C, Ma L, Piontek KB, Germino GG, Pandolfi PP, Boletta A.

Mol Cell Biol. 2009 May;29(9):2359-71. doi: 10.1128/MCB.01259-08. Epub 2009 Mar 2.


Molecular advances in autosomal dominant polycystic kidney disease.

Gallagher AR, Germino GG, Somlo S.

Adv Chronic Kidney Dis. 2010 Mar;17(2):118-30. doi: 10.1053/j.ackd.2010.01.002. Review.

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