230 related articles for article (PubMed ID: 18854862)
1. 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. PubMed ID: 18854862
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 18830229
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 22903760
[TBL] [Abstract][Full Text] [Related]
4. 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; 9():10. PubMed ID: 18302728
[TBL] [Abstract][Full Text] [Related]
5. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M; Ekong R; Povey S; Karbassi I; Batish SD; den Dunnen JT; van Eeghen A; Thiele E; Mayer K; Dies K; Wen L; Thompson C; Sparagana SP; Davies P; Aalfs C; van den Ouweland A; Halley D; Nellist M
Hum Mutat; 2012 Mar; 33(3):476-9. PubMed ID: 22161988
[TBL] [Abstract][Full Text] [Related]
6. 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;
Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
[TBL] [Abstract][Full Text] [Related]
7. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
Mozaffari M; Hoogeveen-Westerveld M; Kwiatkowski D; Sampson J; Ekong R; Povey S; den Dunnen JT; van den Ouweland A; Halley D; Nellist M
BMC Med Genet; 2009 Sep; 10():88. PubMed ID: 19747374
[TBL] [Abstract][Full Text] [Related]
8. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M; Wentink M; van den Heuvel D; Mozaffari M; Ekong R; Povey S; den Dunnen JT; Metcalfe K; Vallee S; Krueger S; Bergoffen J; Shashi V; Elmslie F; Kwiatkowski D; Sampson J; Vidales C; Dzarir J; Garcia-Planells J; Dies K; Maat-Kievit A; van den Ouweland A; Halley D; Nellist M
Hum Mutat; 2011 Apr; 32(4):424-35. PubMed ID: 21309039
[TBL] [Abstract][Full Text] [Related]
9. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
Sancak O; Nellist M; Goedbloed M; Elfferich P; Wouters C; Maat-Kievit A; Zonnenberg B; Verhoef S; Halley D; van den Ouweland A
Eur J Hum Genet; 2005 Jun; 13(6):731-41. PubMed ID: 15798777
[TBL] [Abstract][Full Text] [Related]
10. Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
Choi JE; Chae JH; Hwang YS; Kim KJ
Brain Dev; 2006 Aug; 28(7):440-6. PubMed ID: 16554133
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 15624760
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 19539245
[TBL] [Abstract][Full Text] [Related]
13. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
Hung CC; Su YN; Chien SC; Liou HH; Chen CC; Chen PC; Hsieh CJ; Chen CP; Lee WT; Lin WL; Lee CN
BMC Med Genet; 2006 Sep; 7():72. PubMed ID: 16981987
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 10533067
[TBL] [Abstract][Full Text] [Related]
15. Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways.
Kwiatkowski DJ; Manning BD
Hum Mol Genet; 2005 Oct; 14 Spec No. 2():R251-8. PubMed ID: 16244323
[TBL] [Abstract][Full Text] [Related]
16. Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease.
Astrinidis A; Henske EP
Oncogene; 2005 Nov; 24(50):7475-81. PubMed ID: 16288294
[TBL] [Abstract][Full Text] [Related]
17. Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Ali M; Girimaji SC; Markandaya M; Shukla AK; Sacchidanand S; Kumar A
Acta Neurol Scand; 2005 Jan; 111(1):54-63. PubMed ID: 15595939
[TBL] [Abstract][Full Text] [Related]
18. Phosphorylation and functional inactivation of TSC2 by Erk implications for tuberous sclerosis and cancer pathogenesis.
Ma L; Chen Z; Erdjument-Bromage H; Tempst P; Pandolfi PP
Cell; 2005 Apr; 121(2):179-93. PubMed ID: 15851026
[TBL] [Abstract][Full Text] [Related]
19. The mTOR/S6K signalling pathway: the role of the TSC1/2 tumour suppressor complex and the proto-oncogene Rheb.
Nobukini T; Thomas G
Novartis Found Symp; 2004; 262():148-54; discussion 154-9, 265-8. PubMed ID: 15562827
[TBL] [Abstract][Full Text] [Related]
20. 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; 26(2):407-419. PubMed ID: 28013293
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]