230 related articles for article (PubMed ID: 18854862)
21. A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures.
Nie D; Sahin M
Methods Mol Biol; 2012; 821():393-405. PubMed ID: 22125080
[TBL] [Abstract][Full Text] [Related]
22. Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
Nellist M; Sancak O; Goedbloed MA; Rohe C; van Netten D; Mayer K; Tucker-Williams A; van den Ouweland AM; Halley DJ
Eur J Hum Genet; 2005 Jan; 13(1):59-68. PubMed ID: 15483652
[TBL] [Abstract][Full Text] [Related]
23. Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
Nellist M; Brouwer RW; Kockx CE; van Veghel-Plandsoen M; Withagen-Hermans C; Prins-Bakker L; Hoogeveen-Westerveld M; Mrsic A; van den Berg MM; Koopmans AE; de Wit MC; Jansen FE; Maat-Kievit AJ; van den Ouweland A; Halley D; de Klein A; van IJcken WF
BMC Med Genet; 2015 Feb; 16():10. PubMed ID: 25927202
[TBL] [Abstract][Full Text] [Related]
24. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
Wentink M; Nellist M; Hoogeveen-Westerveld M; Zonnenberg B; van der Kolk D; van Essen T; Park SM; Woods G; Cohn-Hokke P; Brussel W; Smeets E; Brooks A; Halley D; van den Ouweland A; Maat-Kievit A
Clin Genet; 2012 May; 81(5):453-61. PubMed ID: 21332470
[TBL] [Abstract][Full Text] [Related]
25. Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling.
Gao X; Zhang Y; Arrazola P; Hino O; Kobayashi T; Yeung RS; Ru B; Pan D
Nat Cell Biol; 2002 Sep; 4(9):699-704. PubMed ID: 12172555
[TBL] [Abstract][Full Text] [Related]
26. TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
Langkau N; Martin N; Brandt R; Zügge K; Quast S; Wiegele G; Jauch A; Rehm M; Kuhl A; Mack-Vetter M; Zimmerhackl LB; Janssen B
Eur J Pediatr; 2002 Jul; 161(7):393-402. PubMed ID: 12111193
[TBL] [Abstract][Full Text] [Related]
27. Tuberous sclerosis complex.
Hasbani DM; Crino PB
Handb Clin Neurol; 2018; 148():813-822. PubMed ID: 29478616
[TBL] [Abstract][Full Text] [Related]
28. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T; Nanhoe S; de Almeida LGD; Schönewolf-Greulich B; Larsen LJ; Hey CAB; Dunø M; Ek J; Risom L; Nellist M; Møller LB
Sci Rep; 2020 Jun; 10(1):9909. PubMed ID: 32555378
[TBL] [Abstract][Full Text] [Related]
29. The tuberous sclerosis complex: balancing proliferation and survival.
Tomasoni R; Mondino A
Biochem Soc Trans; 2011 Apr; 39(2):466-71. PubMed ID: 21428921
[TBL] [Abstract][Full Text] [Related]
30. A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.
Fu J; Liang P; Zheng Y; Xu C; Xiong F; Yang F
Gene; 2024 May; 909():148312. PubMed ID: 38412945
[TBL] [Abstract][Full Text] [Related]
31. Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation.
Hwang SK; Lee JH; Yang JE; Lim CS; Lee JA; Lee YS; Lee K; Kaang BK
Mol Brain; 2016 May; 9(1):56. PubMed ID: 27216612
[TBL] [Abstract][Full Text] [Related]
32. 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. PubMed ID: 23389244
[TBL] [Abstract][Full Text] [Related]
33. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
Jansen FE; Braams O; Vincken KL; Algra A; Anbeek P; Jennekens-Schinkel A; Halley D; Zonnenberg BA; van den Ouweland A; van Huffelen AC; van Nieuwenhuizen O; Nellist M
Neurology; 2008 Mar; 70(12):908-15. PubMed ID: 18032745
[TBL] [Abstract][Full Text] [Related]
34. TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.
Inoki K; Li Y; Zhu T; Wu J; Guan KL
Nat Cell Biol; 2002 Sep; 4(9):648-57. PubMed ID: 12172553
[TBL] [Abstract][Full Text] [Related]
35. Loss of Tsc1 or Tsc2 induces vascular endothelial growth factor production through mammalian target of rapamycin.
El-Hashemite N; Walker V; Zhang H; Kwiatkowski DJ
Cancer Res; 2003 Sep; 63(17):5173-7. PubMed ID: 14500340
[TBL] [Abstract][Full Text] [Related]
36. Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
Mayer K; Ballhausen W; Rott HD
Hum Mutat; 1999; 14(5):401-11. PubMed ID: 10533066
[TBL] [Abstract][Full Text] [Related]
37. Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.
Jang MA; Hong SB; Lee JH; Lee MH; Chung MP; Shin HJ; Kim JW; Ki CS
Pediatr Neurol; 2012 Apr; 46(4):222-4. PubMed ID: 22490766
[TBL] [Abstract][Full Text] [Related]
38. Chromatin remodeling by rosuvastatin normalizes TSC2-/meth cell phenotype through the expression of tuberin.
Lesma E; Ancona S; Orpianesi E; Grande V; Di Giulio AM; Gorio A
J Pharmacol Exp Ther; 2013 May; 345(2):180-8. PubMed ID: 23426956
[TBL] [Abstract][Full Text] [Related]
39. Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models.
Lee L; Sudentas P; Donohue B; Asrican K; Worku A; Walker V; Sun Y; Schmidt K; Albert MS; El-Hashemite N; Lader AS; Onda H; Zhang H; Kwiatkowski DJ; Dabora SL
Genes Chromosomes Cancer; 2005 Mar; 42(3):213-27. PubMed ID: 15578690
[TBL] [Abstract][Full Text] [Related]
40. Large deletion at the TSC1 locus in a family with tuberous sclerosis complex.
Nellist M; Sancak O; Goedbloed MA; van Veghel-Plandsoen M; Maat-Kievit A; Lindhout D; Eussen BH; de Klein A; Halley DJ; van den Ouweland AM
Genet Test; 2005; 9(3):226-30. PubMed ID: 16225402
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]