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Items: 1 to 20 of 104

1.

Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex.

Li Y, Barkovich MJ, Karch CM, Nillo RM, Fan CC, Broce IJ, Tan CH, Cuneo D, Hess CP, Dillon WP, Glenn OA, Glastonbury CM, Olney N, Yokoyama JS, Bonham LW, Miller B, Kao A, Schmansky N, Fischl B, Andreassen OA, Jernigan T, Dale A, Barkovich AJ, Desikan RS, Sugrue LP.

Sci Rep. 2018 Sep 6;8(1):13373. doi: 10.1038/s41598-018-31075-4.

2.

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.

Feliciano DM, Lin TV, Hartman NW, Bartley CM, Kubera C, Hsieh L, Lafourcade C, O'Keefe RA, Bordey A.

Int J Dev Neurosci. 2013 Nov;31(7):667-78. doi: 10.1016/j.ijdevneu.2013.02.008. Epub 2013 Feb 26. Review.

3.

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.

Rendtorff ND, Bjerregaard B, Frödin M, Kjaergaard S, Hove H, Skovby F, Brøndum-Nielsen K, Schwartz M; Danish Tuberous Sclerosis Group.

Hum Mutat. 2005 Oct;26(4):374-83.

PMID:
16114042
4.

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

Zeng LH, Rensing NR, Zhang B, Gutmann DH, Gambello MJ, Wong M.

Hum Mol Genet. 2011 Feb 1;20(3):445-54. doi: 10.1093/hmg/ddq491. Epub 2010 Nov 9.

5.

Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.

Yu T, He Y, Li N, Zhou Y, Wang Z, Fu Q, Wang J, Wang J.

Clin Neurol Neurosurg. 2017 Mar;154:104-108. doi: 10.1016/j.clineuro.2017.01.015. Epub 2017 Feb 1.

PMID:
28178598
6.

Deficient TSC1/TSC2-complex suppression of SOX9-osteopontin-AKT signalling cascade constrains tumour growth in tuberous sclerosis complex.

Jin F, Jiang K, Ji S, Wang L, Ni Z, Huang F, Li C, Chen R, Zhang H, Hu Z, Zha X.

Hum Mol Genet. 2017 Jan 15;26(2):407-419. doi: 10.1093/hmg/ddw397.

PMID:
28013293
7.

Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner.

Di Nardo A, Kramvis I, Cho N, Sadowski A, Meikle L, Kwiatkowski DJ, Sahin M.

J Neurosci. 2009 May 6;29(18):5926-37. doi: 10.1523/JNEUROSCI.0778-09.2009.

8.

Combined Targeting of mTOR and Akt Using Rapamycin and MK-2206 in The Treatment of Tuberous Sclerosis Complex.

Ji S, Lin W, Wang L, Ni Z, Jin F, Zha X, Fei G.

J Cancer. 2017 Feb 11;8(4):555-562. doi: 10.7150/jca.17205. eCollection 2017.

9.

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice.

Tsai PT, Hull C, Chu Y, Greene-Colozzi E, Sadowski AR, Leech JM, Steinberg J, Crawley JN, Regehr WG, Sahin M.

Nature. 2012 Aug 30;488(7413):647-51. doi: 10.1038/nature11310.

10.

Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.

Niida Y, Wakisaka A, Tsuji T, Yamada H, Kuroda M, Mitani Y, Okumura A, Yokoi A.

J Hum Genet. 2013 Apr;58(4):216-25. doi: 10.1038/jhg.2013.3. Epub 2013 Feb 7.

PMID:
23389244
11.

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.

12.

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
13.

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review.

Rosset C, Netto CBO, Ashton-Prolla P.

Genet Mol Biol. 2017 Jan-Mar;40(1):69-79. doi: 10.1590/1678-4685-GMB-2015-0321. Epub 2017 Feb 20.

14.

Mammalian target of rapamycin inhibitors for treatment in tuberous sclerosis.

Kim WS.

Korean J Pediatr. 2011 Jun;54(6):241-5. doi: 10.3345/kjp.2011.54.6.241. Epub 2011 Jun 30. Retraction in: Rha YH. Korean J Pediatr. 2013 Jun;56(6):269.

15.

Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.

Nellist M, Sancak O, Goedbloed M, Adriaans A, Wessels M, Maat-Kievit A, Baars M, Dommering C, van den Ouweland A, Halley D.

BMC Med Genet. 2008 Feb 26;9:10. doi: 10.1186/1471-2350-9-10.

16.

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L.

Hum Mutat. 1999;14(5):412-22.

PMID:
10533067
17.

Insulin like growth factor-1-induced phosphorylation and altered distribution of tuberous sclerosis complex (TSC)1/TSC2 in C2C12 myotubes.

Miyazaki M, McCarthy JJ, Esser KA.

FEBS J. 2010 May;277(9):2180-91. doi: 10.1111/j.1742-4658.2010.07635.x.

18.

Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.

Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M.

Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Erratum in: Hum Mutat. 2013 Feb;34(2):408-10. van Eeghen, Agnies M [added]; Thiele, Elizabeth A [added].

PMID:
22903760
19.

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ.

Am J Hum Genet. 2001 Jan;68(1):64-80. Epub 2000 Dec 8.

20.

Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.

Papadopoulou A, Dinopoulos A, Koutsodontis G, Pons R, Vorgia P, Koute V, Vratimos A, Zafeiriou D.

Eur J Paediatr Neurol. 2018 May;22(3):419-426. doi: 10.1016/j.ejpn.2018.01.026. Epub 2018 Feb 9.

PMID:
29500070

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