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Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1.

Zhou J, Brugarolas J, Parada LF.

Hum Mol Genet. 2009 Nov 15;18(22):4428-41. doi: 10.1093/hmg/ddp398. Epub 2009 Aug 19.


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.


Stromal liver kinase B1 [STK11] signaling loss induces oviductal adenomas and endometrial cancer by activating mammalian Target of Rapamycin Complex 1.

Tanwar PS, Kaneko-Tarui T, Zhang L, Tanaka Y, Crum CP, Teixeira JM.

PLoS Genet. 2012;8(8):e1002906. doi: 10.1371/journal.pgen.1002906. Epub 2012 Aug 16.


Tsc/mTORC1 signaling in oocytes governs the quiescence and activation of primordial follicles.

Adhikari D, Zheng W, Shen Y, Gorre N, Hämäläinen T, Cooney AJ, Huhtaniemi I, Lan ZJ, Liu K.

Hum Mol Genet. 2010 Feb 1;19(3):397-410. doi: 10.1093/hmg/ddp483. Epub 2009 Oct 20.


Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressors.

Huang J, Wu S, Wu CL, Manning BD.

Cancer Res. 2009 Aug 1;69(15):6107-14. doi: 10.1158/0008-5472.CAN-09-0975. Epub 2009 Jul 14.


TSC1/TSC2 inactivation inhibits AKT through mTORC1-dependent up-regulation of STAT3-PTEN cascade.

Zha X, Hu Z, He S, Wang F, Shen H, Zhang H.

Cancer Lett. 2011 Dec 27;313(2):211-7. doi: 10.1016/j.canlet.2011.09.006. Epub 2011 Sep 12.


Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration.

Reith RM, Way S, McKenna J 3rd, Haines K, Gambello MJ.

Neurobiol Dis. 2011 Jul;43(1):113-22. doi: 10.1016/j.nbd.2011.02.014. Epub 2011 Mar 17.


Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules.

Armour EA, Carson RP, Ess KC.

Am J Physiol Renal Physiol. 2012 Aug 15;303(4):F584-92. doi: 10.1152/ajprenal.00141.2012. Epub 2012 Jun 6.


The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex.

Way SW, Rozas NS, Wu HC, McKenna J 3rd, Reith RM, Hashmi SS, Dash PK, Gambello MJ.

Hum Mol Genet. 2012 Jul 15;21(14):3226-36. doi: 10.1093/hmg/dds156. Epub 2012 Apr 24.


Prolonging the survival of Tsc2 conditional knockout mice by glutamine supplementation.

Rozas NS, Redell JB, McKenna J 3rd, Moore AN, Gambello MJ, Dash PK.

Biochem Biophys Res Commun. 2015 Feb 20;457(4):635-9. doi: 10.1016/j.bbrc.2015.01.039. Epub 2015 Jan 19.


Tuberous sclerosis complex proteins 1 and 2 control serum-dependent translation in a TOP-dependent and -independent manner.

Bilanges B, Argonza-Barrett R, Kolesnichenko M, Skinner C, Nair M, Chen M, Stokoe D.

Mol Cell Biol. 2007 Aug;27(16):5746-64. Epub 2007 Jun 11.


Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin.

Carson RP, Van Nielen DL, Winzenburger PA, Ess KC.

Neurobiol Dis. 2012 Jan;45(1):369-80. doi: 10.1016/j.nbd.2011.08.024. Epub 2011 Aug 26.


mTORC1-dependent and -independent regulation of stem cell renewal, differentiation, and mobilization.

Gan B, Sahin E, Jiang S, Sanchez-Aguilera A, Scott KL, Chin L, Williams DA, Kwiatkowski DJ, DePinho RA.

Proc Natl Acad Sci U S A. 2008 Dec 9;105(49):19384-9. doi: 10.1073/pnas.0810584105. Epub 2008 Dec 3.


Smooth muscle protein-22-mediated deletion of Tsc1 results in cardiac hypertrophy that is mTORC1-mediated and reversed by rapamycin.

Malhowski AJ, Hira H, Bashiruddin S, Warburton R, Goto J, Robert B, Kwiatkowski DJ, Finlay GA.

Hum Mol Genet. 2011 Apr 1;20(7):1290-305. doi: 10.1093/hmg/ddq570. Epub 2011 Jan 6.


Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia.

Chen J, Futami K, Petillo D, Peng J, Wang P, Knol J, Li Y, Khoo SK, Huang D, Qian CN, Zhao P, Dykema K, Zhang R, Cao B, Yang XJ, Furge K, Williams BO, Teh BT.

PLoS One. 2008;3(10):e3581. doi: 10.1371/journal.pone.0003581. Epub 2008 Oct 30. Erratum in: PLoS ONE. 2008;3(11). doi: 10.1371/annotation/0f06471c-1993-4144-b785-d58924ac0b5c. PLoS ONE. 2008;3(11). doi: 10.1371/annotation/136385d5-b241-4ecc-b31a-6dea3ebf3bc4. Dykyma, Karl [corrected to Dykema, Karl].


TSC1 controls distribution of actin fibers through its effect on function of Rho family of small GTPases and regulates cell migration and polarity.

Ohsawa M, Kobayashi T, Okura H, Igarashi T, Mizuguchi M, Hino O.

PLoS One. 2013;8(1):e54503. doi: 10.1371/journal.pone.0054503. Epub 2013 Jan 23.


Aberrant hyperactivation of akt and Mammalian target of rapamycin complex 1 signaling in sporadic chordomas.

Han S, Polizzano C, Nielsen GP, Hornicek FJ, Rosenberg AE, Ramesh V.

Clin Cancer Res. 2009 Mar 15;15(6):1940-6. doi: 10.1158/1078-0432.CCR-08-2364. Epub 2009 Mar 10.


Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment.

Inoki K, Guan KL.

Hum Mol Genet. 2009 Apr 15;18(R1):R94-100. doi: 10.1093/hmg/ddp032. Review.


Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner.

Banerjee S, Crouse NR, Emnett RJ, Gianino SM, Gutmann DH.

Proc Natl Acad Sci U S A. 2011 Sep 20;108(38):15996-6001. doi: 10.1073/pnas.1019012108. Epub 2011 Sep 6.


A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.

Pollizzi K, Malinowska-Kolodziej I, Doughty C, Betz C, Ma J, Goto J, Kwiatkowski DJ.

Hum Mol Genet. 2009 Jul 1;18(13):2378-87. doi: 10.1093/hmg/ddp176. Epub 2009 Apr 8.

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