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Items: 1 to 20 of 100

1.

Mesenchymal-epithelial interactions involving epiregulin in tuberous sclerosis complex hamartomas.

Li S, Takeuchi F, Wang JA, Fan Q, Komurasaki T, Billings EM, Pacheco-Rodriguez G, Moss J, Darling TN.

Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3539-44. doi: 10.1073/pnas.0712397105. Epub 2008 Feb 21.

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Human TSC2-null fibroblast-like cells induce hair follicle neogenesis and hamartoma morphogenesis.

Li S, Thangapazham RL, Wang JA, Rajesh S, Kao TC, Sperling L, Moss J, Darling TN.

Nat Commun. 2011;2:235. doi: 10.1038/ncomms1236.

4.

MCP-1 overexpressed in tuberous sclerosis lesions acts as a paracrine factor for tumor development.

Li S, Takeuchi F, Wang JA, Fuller C, Pacheco-Rodriguez G, Moss J, Darling TN.

J Exp Med. 2005 Sep 5;202(5):617-24. Epub 2005 Aug 29.

5.

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Tyburczy ME, Wang JA, Li S, Thangapazham R, Chekaluk Y, Moss J, Kwiatkowski DJ, Darling TN.

Hum Mol Genet. 2014 Apr 15;23(8):2023-9. doi: 10.1093/hmg/ddt597. Epub 2013 Nov 23.

6.

Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, van Essen T, van Spaendonck-Zwarts K, Jansen F, Helderman P, Bartalini G, Vierimaa O, Penttinen M, van den Ende J, van den Ouweland A, Halley D.

Eur J Hum Genet. 2009 Mar;17(3):319-28. doi: 10.1038/ejhg.2008.170. Epub 2008 Oct 1.

7.

Efficacy of combined inhibition of mTOR and ERK/MAPK pathways in treating a tuberous sclerosis complex cell model.

Mi R, Ma J, Zhang D, Li L, Zhang H.

J Genet Genomics. 2009 Jun;36(6):355-61. doi: 10.1016/S1673-8527(08)60124-1.

PMID:
19539245
8.

Biallelic TSC gene inactivation in tuberous sclerosis complex.

Crino PB, Aronica E, Baltuch G, Nathanson KL.

Neurology. 2010 May 25;74(21):1716-23. doi: 10.1212/WNL.0b013e3181e04325.

9.

Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent.

Jaeschke A, Hartkamp J, Saitoh M, Roworth W, Nobukuni T, Hodges A, Sampson J, Thomas G, Lamb R.

J Cell Biol. 2002 Oct 28;159(2):217-24. Epub 2002 Oct 28.

10.

Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation.

Chan JA, Zhang H, Roberts PS, Jozwiak S, Wieslawa G, Lewin-Kowalik J, Kotulska K, Kwiatkowski DJ.

J Neuropathol Exp Neurol. 2004 Dec;63(12):1236-42.

PMID:
15624760
11.

Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.

Kwiatkowski DJ, Manning BD.

Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:R251-8. Review.

PMID:
16244323
12.

Evidence that TSC2 acts as a transcription factor and binds to and represses the promoter of Epiregulin.

Pradhan SA, Rather MI, Tiwari A, Bhat VK, Kumar A.

Nucleic Acids Res. 2014 Jun;42(10):6243-55. doi: 10.1093/nar/gku278. Epub 2014 Apr 19.

13.

Expression of proteoglycans and glycosaminoglycans in angiofibroma and fibrous plaque skin lesions from patients with tuberous sclerosis.

Papakonstantinou E, Dionyssopoulos A, Pesintzaki C, Minas A, Karakiulakis G.

Arch Dermatol Res. 2003 Aug;295(4):138-45. Epub 2003 Jul 3.

PMID:
12844226
14.

Rhebbing up mTOR: new insights on TSC1 and TSC2, and the pathogenesis of tuberous sclerosis.

Kwiatkowski DJ.

Cancer Biol Ther. 2003 Sep-Oct;2(5):471-6. Review.

PMID:
14614311
15.

Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S, Justus S, Nagahama Y, Grossbach AJ, Howard MA 3rd, Kawasaki H, Feldstein NA, Dobyns WB, Northrup H, Hauck SM, Ueffing M, Mahajan VB, Tsang SH.

Hum Mol Genet. 2016 Oct 1;25(19):4201-4210. doi: 10.1093/hmg/ddw253. Epub 2016 Aug 11.

PMID:
27516388
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Identification of S664 TSC2 phosphorylation as a marker for extracellular signal-regulated kinase mediated mTOR activation in tuberous sclerosis and human cancer.

Ma L, Teruya-Feldstein J, Bonner P, Bernardi R, Franz DN, Witte D, Cordon-Cardo C, Pandolfi PP.

Cancer Res. 2007 Aug 1;67(15):7106-12.

19.

A reliable cell-based assay for testing unclassified TSC2 gene variants.

Coevoets R, Arican S, Hoogeveen-Westerveld M, Simons E, van den Ouweland A, Halley D, Nellist M.

Eur J Hum Genet. 2009 Mar;17(3):301-10. doi: 10.1038/ejhg.2008.184. Epub 2008 Oct 15.

20.

Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J.

Proc Natl Acad Sci U S A. 2002 Oct 15;99(21):13571-6. Epub 2002 Sep 23.

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