-
1
-
-
0004102014
-
-
Oxford University Press, Oxford, UK, M. Gomez, J. Sampson, V. Whittemore (Eds.)
-
The Tuberous Sclerosis Complex 1999, Oxford University Press, Oxford, UK. M. Gomez, J. Sampson, V. Whittemore (Eds.).
-
(1999)
The Tuberous Sclerosis Complex
-
-
-
2
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
van Slegtenhorst M., de Hoogt R., Hermans C., Nellist M., Janssen L.A.J., Verhoef S., Lindhout D., van den Ouweland A.M.W., Halley D.J.J., Young J., Burley M., Jeremiah S., Woodward K., Nahmias J., Fox M., Ekong R., Wolfe J., Povey S., Osborne J., Snell R.G., Cheadle J.P., Jones A.C., Tachataki M., Ravine D., Sampson J.R., Reeve M.P., Richardson P., Wilmer F., Munro C., Hawkins T.L., Sepp T., Ali J.B.M., Ward S., Green A.J., Yates J.R.W., Short M.P., Haines J.H., Jozwiak S., Kwiatkowska J., Henske E.P., Kwiatkowski D.J. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997, 277:805-808.
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
van Slegtenhorst, M.1
de Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, L.A.J.5
Verhoef, S.6
Lindhout, D.7
van den Ouweland, A.M.W.8
Halley, D.J.J.9
Young, J.10
Burley, M.11
Jeremiah, S.12
Woodward, K.13
Nahmias, J.14
Fox, M.15
Ekong, R.16
Wolfe, J.17
Povey, S.18
Osborne, J.19
Snell, R.G.20
Cheadle, J.P.21
Jones, A.C.22
Tachataki, M.23
Ravine, D.24
Sampson, J.R.25
Reeve, M.P.26
Richardson, P.27
Wilmer, F.28
Munro, C.29
Hawkins, T.L.30
Sepp, T.31
Ali, J.B.M.32
Ward, S.33
Green, A.J.34
Yates, J.R.W.35
Short, M.P.36
Haines, J.H.37
Jozwiak, S.38
Kwiatkowska, J.39
Henske, E.P.40
Kwiatkowski, D.J.41
more..
-
3
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
The European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993, 75:1305-1315.
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
The European Chromosome 16 Tuberous Sclerosis Consortium1
-
4
-
-
7144255533
-
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
-
van Slegtenhorst M., Nellist M., Nagelkerken B., Cheadle J., Snell R., van den Ouweland A., Reuser A., Sampson J.R., Halley D., van der Sluijs P. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum. Mol. Genet. 1998, 7:1053-1057.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1053-1057
-
-
van Slegtenhorst, M.1
Nellist, M.2
Nagelkerken, B.3
Cheadle, J.4
Snell, R.5
van den Ouweland, A.6
Reuser, A.7
Sampson, J.R.8
Halley, D.9
van der Sluijs, P.10
-
5
-
-
60749130120
-
TSC2: filling the GAP in the mTOR signaling pathway
-
Li Y., Corradetti M.N., Inoki K., Guan K.-L. TSC2: filling the GAP in the mTOR signaling pathway. Trends Biochem. Sci. 2003, 28:573-576.
-
(2003)
Trends Biochem. Sci.
, vol.28
, pp. 573-576
-
-
Li, Y.1
Corradetti, M.N.2
Inoki, K.3
Guan, K.-L.4
-
6
-
-
34347220473
-
Defining the role of mTOR in cancer
-
Guertin D.A., Sabatini D.M. Defining the role of mTOR in cancer. Cancer Cell 2007, 12:9-22.
-
(2007)
Cancer Cell
, vol.12
, pp. 9-22
-
-
Guertin, D.A.1
Sabatini, D.M.2
-
7
-
-
0038141979
-
Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins
-
Zhang Y., Gao X., Saucedo L.J., Ru B., Edgar B.A., Pan D. Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins. Nat. Cell Biol. 2003, 5:578-581.
-
(2003)
Nat. Cell Biol.
, vol.5
, pp. 578-581
-
-
Zhang, Y.1
Gao, X.2
Saucedo, L.J.3
Ru, B.4
Edgar, B.A.5
Pan, D.6
-
8
-
-
0038433304
-
Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2
-
Garami A., Zwartkruis F.J., Nobukuni T., Joaquin M., Roccio M., Stocker H., Kozma S.C., Hafen E., Bos J.L., Thomas G. Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2. Mol. Cell 2003, 11:1457-1466.
-
(2003)
Mol. Cell
, vol.11
, pp. 1457-1466
-
-
Garami, A.1
Zwartkruis, F.J.2
Nobukuni, T.3
Joaquin, M.4
Roccio, M.5
Stocker, H.6
Kozma, S.C.7
Hafen, E.8
Bos, J.L.9
Thomas, G.10
-
9
-
-
0042701991
-
Tuberous sclerosis complex gene products, tuberin and hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb
-
Tee A.R., Manning B.D., Roux P.P., Cantley L.C., Blenis J. Tuberous sclerosis complex gene products, tuberin and hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Curr. Biol. 2003, 13:1259-1268.
-
(2003)
Curr. Biol.
, vol.13
, pp. 1259-1268
-
-
Tee, A.R.1
Manning, B.D.2
Roux, P.P.3
Cantley, L.C.4
Blenis, J.5
-
10
-
-
0041356888
-
Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner
-
Castro A.F., Rebhun J.F., Clark G.J., Quilliam L.A. Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner. J. Biol. Chem. 2003, 278:32493-32496.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 32493-32496
-
-
Castro, A.F.1
Rebhun, J.F.2
Clark, G.J.3
Quilliam, L.A.4
-
11
-
-
0043127125
-
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
-
Inoki K., Li Y., Xu T., Guan K.-L. Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes Dev. 2003, 17:1829-1834.
-
(2003)
Genes Dev.
, vol.17
, pp. 1829-1834
-
-
Inoki, K.1
Li, Y.2
Xu, T.3
Guan, K.-L.4
-
12
-
-
33646111903
-
Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning
-
Cai S.L., Tee A.R., Short J.D., Bergeron J.M., Kim J., Shen J., Guo R., Johnson C.L., Kiguchi K., Walker C.L. Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning. J. Cell Biol. 2006, 173:279-289.
-
(2006)
J. Cell Biol.
, vol.173
, pp. 279-289
-
-
Cai, S.L.1
Tee, A.R.2
Short, J.D.3
Bergeron, J.M.4
Kim, J.5
Shen, J.6
Guo, R.7
Johnson, C.L.8
Kiguchi, K.9
Walker, C.L.10
-
13
-
-
43149101490
-
The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners
-
Rosner M., Hanneder M., Siegel N., Valli N., Hengstschlager M. The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners. Mutat. Res. 2008, 658:234-246.
-
(2008)
Mutat. Res.
, vol.658
, pp. 234-246
-
-
Rosner, M.1
Hanneder, M.2
Siegel, N.3
Valli, N.4
Hengstschlager, M.5
-
14
-
-
0033544919
-
Characterization of the cytosolic tuberin-hamartin complex: tuberin is a cytosolic chaperone for hamartin
-
Nellist M., van Slegtenhorst M.A., Goedbloed M., van den Ouweland A.M.W., Halley D.J.J., van der Sluijs P. Characterization of the cytosolic tuberin-hamartin complex: tuberin is a cytosolic chaperone for hamartin. J. Biol. Chem. 1999, 274:35647-35652.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 35647-35652
-
-
Nellist, M.1
van Slegtenhorst, M.A.2
Goedbloed, M.3
van den Ouweland, A.M.W.4
Halley, D.J.J.5
van der Sluijs, P.6
-
15
-
-
0035660247
-
TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex
-
Nellist M., Verhaaf B., Goedbloed M.A., Reuser A.J.J., van den Ouweland A.M.W., Halley D.J.J. TSC2 missense mutations inhibit tuberin phosphorylation and prevent formation of the tuberin-hamartin complex. Hum. Mol. Genet. 2001, 10:2889-2898.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2889-2898
-
-
Nellist, M.1
Verhaaf, B.2
Goedbloed, M.A.3
Reuser, A.J.J.4
van den Ouweland, A.M.W.5
Halley, D.J.J.6
-
16
-
-
70349763010
-
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 J.T., van den Ouweland A., Halley D., Nellist M. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Med. Genet. 2009, 10:e88.
-
(2009)
BMC Med. Genet.
, vol.10
-
-
Mozaffari, M.1
Hoogeveen-Westerveld, M.2
Kwiatkowski, D.3
Sampson, J.4
Ekong, R.5
Povey, S.6
den Dunnen, J.T.7
van den Ouweland, A.8
Halley, D.9
Nellist, M.10
-
17
-
-
60749128661
-
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. Missense mutations to the TSC1 gene cause tuberous sclerosis complex. Eur. J. Hum. Genet. 2009, 17:319-328.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 319-328
-
-
Nellist, M.1
van den Heuvel, D.2
Schluep, D.3
Exalto, C.4
Goedbloed, M.5
Maat-Kievit, A.6
van Essen, T.7
van Spaendonck-Zwarts, K.8
Jansen, F.9
Helderman, P.10
Bartalini, G.11
Vierimaa, O.12
Penttinen, M.13
van den Ende, J.14
van den Ouweland, A.15
Halley, D.16
-
18
-
-
12744255189
-
Distinct effects of single amino acid changes to tuberin on the function of the tuberin-hamartin complex
-
Nellist M., Sancak O., Goedbloed M.A., Rohe C., van Netten D., Mayer K., Tucker-Williams A., van den Ouweland A.M.W., Halley D.J.J. Distinct effects of single amino acid changes to tuberin on the function of the tuberin-hamartin complex. Eur. J. Hum. Genet. 2005, 13:59-68.
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 59-68
-
-
Nellist, M.1
Sancak, O.2
Goedbloed, M.A.3
Rohe, C.4
van Netten, D.5
Mayer, K.6
Tucker-Williams, A.7
van den Ouweland, A.M.W.8
Halley, D.J.J.9
-
19
-
-
60749095458
-
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. A reliable cell-based assay for testing unclassified TSC2 gene variants. Eur. J. Hum. Genet. 2009, 17:301-310.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 301-310
-
-
Coevoets, R.1
Arican, S.2
Hoogeveen-Westerveld, M.3
Simons, E.4
van den Ouweland, A.5
Halley, D.6
Nellist, M.7
-
20
-
-
20544431744
-
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. 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. Eur. J. Hum. Genet. 2005, 13:731-741.
-
(2005)
Eur. J. Hum. Genet.
, vol.13
, pp. 731-741
-
-
Sancak, O.1
Nellist, M.2
Goedbloed, M.3
Elfferich, P.4
Wouters, C.5
Maat-Kievit, A.6
Zonnenberg, B.7
Verhoef, S.8
Halley, D.9
van den Ouweland, A.10
-
21
-
-
77954956371
-
-
Tuberous sclerosis database - Leiden Open Variation Database [].
-
Tuberous sclerosis database - Leiden Open Variation Database []. http://www.chromium.liacs.nl/lovd/index.php?select_db=TSC1.
-
-
-
-
22
-
-
45749119969
-
Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms
-
Pymar L.S., Platt F.M., Askham J.M., Morrison E.E., Knowles M.A. Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms. Hum. Mol. Genet. 2008, 17:2006-2017.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2006-2017
-
-
Pymar, L.S.1
Platt, F.M.2
Askham, J.M.3
Morrison, E.E.4
Knowles, M.A.5
-
23
-
-
63149136365
-
Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment
-
Inoki K., Guan K.-L. Tuberous sclerosis complex, implication from a rare genetic disease to common cancer treatment. Hum. Mol. Genet. 2009, 18:94-100.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 94-100
-
-
Inoki, K.1
Guan, K.-L.2
-
24
-
-
34547168930
-
The tuberous sclerosis complex proteins - a GRIPP on cognition and neurodevelopment
-
de Vries P., Howe C.J. The tuberous sclerosis complex proteins - a GRIPP on cognition and neurodevelopment. Trends Mol. Med. 2007, 13:319-326.
-
(2007)
Trends Mol. Med.
, vol.13
, pp. 319-326
-
-
de Vries, P.1
Howe, C.J.2
|