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Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

Bacci GM, Polizzi S, Mari F, Conti V, Caputo R, Guerrini R. Bacci GM, et al. J Neuroophthalmol. 2021 Sep 1;41(3):e363-e365. doi: 10.1097/WNO.0000000000001099. J Neuroophthalmol. 2021. PMID: 33110010

Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome.

Anandh U, Chandrasekar G, Agarwal V. Anandh U, et al. Saudi J Kidney Dis Transpl. 2018 Nov-Dec;29(6):1475-1479. doi: 10.4103/1319-2442.248317. Saudi J Kidney Dis Transpl. 2018. PMID: 30588981

Novel Inflammatory Neuropathology in Immature Brain: (1) Fetal Tuberous Sclerosis, (2) Febrile Seizures, (3) α-B-crystallin, and (4) Role of Astrocytes.

Sarnat HB, Scantlebury MH. Sarnat HB, et al. Semin Pediatr Neurol. 2017 Aug;24(3):152-160. doi: 10.1016/j.spen.2017.08.010. Epub 2017 Sep 14. Semin Pediatr Neurol. 2017. PMID: 29103422 Review.

Tuberous sclerosis-2 (TSC2) regulates the stability of death-associated protein kinase-1 (DAPK) through a lysosome-dependent degradation pathway.

Lin Y, Henderson P, Pettersson S, Satsangi J, Hupp T, Stevens C. Lin Y, et al. FEBS J. 2011 Jan;278(2):354-70. doi: 10.1111/j.1742-4658.2010.07959.x. Epub 2010 Dec 6. FEBS J. 2011. PMID: 21134130 Free article.

AMP-activated protein kinase inhibits IGF-I signaling and protein synthesis in vascular smooth muscle cells via stimulation of insulin receptor substrate 1 S794 and tuberous sclerosis 2 S1345 phosphorylation.

Ning J, Clemmons DR. Ning J, et al. Mol Endocrinol. 2010 Jun;24(6):1218-29. doi: 10.1210/me.2009-0474. Epub 2010 Apr 2. Mol Endocrinol. 2010. PMID: 20363874 Free PMC article.

The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition.

Shiono M, Kobayashi T, Takahashi R, Sun G, Abe M, Zhang D, Wang L, Piao X, Takagi Y, Mineki R, Taka H, Tada N, Sonobe S, Momose S, Ueda M, Hino O. Shiono M, et al. Oncogene. 2008 Nov 6;27(52):6690-7. doi: 10.1038/onc.2008.283. Epub 2008 Aug 11. Oncogene. 2008. PMID: 18695678

Prostaglandin E2 mediates phosphorylation and down-regulation of the tuberous sclerosis-2 tumor suppressor (tuberin) in human endometrial adenocarcinoma cells via the Akt signaling pathway.

Sales KJ, Battersby S, Williams AR, Anderson RA, Jabbour HN. Sales KJ, et al. J Clin Endocrinol Metab. 2004 Dec;89(12):6112-8. doi: 10.1210/jc.2004-0892. J Clin Endocrinol Metab. 2004. PMID: 15579767

Tuberous sclerosis-2 tumor suppressor modulates ERK and B-Raf activity in transformed renal epithelial cells.

Yoon HS, Ramachandiran S, Chacko MA, Monks TJ, Lau SS. Yoon HS, et al. Am J Physiol Renal Physiol. 2004 Feb;286(2):F417-24. doi: 10.1152/ajprenal.00234.2003. Epub 2003 Nov 11. Am J Physiol Renal Physiol. 2004. PMID: 14612383 Free article.

The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3.

Li Y, Inoki K, Vacratsis P, Guan KL. Li Y, et al. J Biol Chem. 2003 Apr 18;278(16):13663-71. doi: 10.1074/jbc.M300862200. Epub 2003 Feb 11. J Biol Chem. 2003. PMID: 12582162 Free article.

Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development.

Cai S, Everitt JI, Kugo H, Cook J, Kleymenova E, Walker CL. Cai S, et al. Am J Pathol. 2003 Feb;162(2):457-68. doi: 10.1016/S0002-9440(10)63840-0. Am J Pathol. 2003. PMID: 12547704 Free PMC article.

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