-
1
-
-
8844239383
-
Ein fall von Tuberoser Sklerose and gleichzeitigen multiplen Nierengeschwulsten
-
Kirpicznik J: Ein fall von Tuberoser Sklerose and gleichzeitigen multiplen Nierengeschwulsten. Virchows Arch J Pathol Anat 1910;202(3):358.
-
(1910)
Virchows Arch. J. Pathol. Anat.
, vol.202
, Issue.3
, pp. 358
-
-
Kirpicznik, J.1
-
3
-
-
0004448609
-
A case of congenital adenoma sebaceum
-
Pringle JJ: A case of congenital adenoma sebaceum. Br J Dermatol 1890;2:1-14.
-
(1890)
Br. J. Dermatol.
, vol.2
, pp. 1-14
-
-
Pringle, J.J.1
-
4
-
-
8844274286
-
Vererbung der tuberosen Sklerose durch zweigzu drei Generationen
-
Berg H: Vererbung der tuberosen Sklerose durch zweigzu drei Generationen. Z Gies Neurol Psychiatr 1913;19:528-539.
-
(1913)
Z. Gies Neurol. Psychiatr.
, vol.19
, pp. 528-539
-
-
Berg, H.1
-
5
-
-
0008235383
-
The genetics of epiloia
-
Gunther M, Penrose LS: The genetics of epiloia. J Genet 1935; 31:413-430.
-
(1935)
J. Genet.
, vol.31
, pp. 413-430
-
-
Gunther, M.1
Penrose, L.S.2
-
6
-
-
0013082141
-
Familial occurrence of tuberous sclerosis
-
Dickerson WW. Familial occurrence of tuberous sclerosis. AMA Arch Neurol Psychiatry 1951;65:683-702.
-
(1951)
AMA Arch. Neurol. Psychiatry
, vol.65
, pp. 683-702
-
-
Dickerson, W.W.1
-
7
-
-
0014039853
-
Tuberous sclerosis: Reappraisal of a clinical entity
-
Lagos JC, Gomez MR: Tuberous sclerosis: Reappraisal of a clinical entity. Mayo Clin Proc 1967;42:26-49.
-
(1967)
Mayo Clin. Proc.
, vol.42
, pp. 26-49
-
-
Lagos, J.C.1
Gomez, M.R.2
-
8
-
-
76949130721
-
Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes
-
Borberg A: Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis; contribution to elucidation of interrelationship and eugenics of the syndromes. Acta Neurol Scand Suppl 1951;71:1-239.
-
(1951)
Acta Neurol. Scand. Suppl.
, vol.71
, pp. 1-239
-
-
Borberg, A.1
-
9
-
-
0014396148
-
Diagnostic and genetical aspects of tuberous sclerosis
-
Nevin NC, Pearce WG: Diagnostic and genetical aspects of tuberous sclerosis. J Med Genet 1968;5:273-280.
-
(1968)
J. Med. Genet.
, vol.5
, pp. 273-280
-
-
Nevin, N.C.1
Pearce, W.G.2
-
10
-
-
0014261696
-
Tuberous sclerosis: A clinical and genetical investigation
-
Zaremba J: Tuberous sclerosis: A clinical and genetical investigation. J Ment Defic Res 1968;12:63-80.
-
(1968)
J. Ment Defic Res.
, vol.12
, pp. 63-80
-
-
Zaremba, J.1
-
12
-
-
0014988462
-
Genetic aspects of tuberous sclerosis in a Chinese population
-
Singer K; Genetic aspects of tuberous sclerosis in a Chinese population. Am J Hum Genet 1971;23:33-40.
-
(1971)
Am. J. Hum. Genet.
, vol.23
, pp. 33-40
-
-
Singer, K.1
-
13
-
-
0021241981
-
Tuberous sclerosis: A new estimate of prevalence within the Oxford region
-
Hunt A, Lindenbaum RH: Tuberous sclerosis: A new estimate of prevalence within the Oxford region. J Med Genet 1984;21:272-277.
-
(1984)
J. Med. Genet.
, vol.21
, pp. 272-277
-
-
Hunt, A.1
Lindenbaum, R.H.2
-
14
-
-
0021857470
-
Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982
-
Wiederholt WC, Gomez MR, Kurland LT: Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982. Neurology 1985;35:600-603.
-
(1985)
Neurology
, vol.35
, pp. 600-603
-
-
Wiederholt, W.C.1
Gomez, M.R.2
Kurland, L.T.3
-
15
-
-
0024356435
-
Evidence for genetic heterogeneity in tuberous sclerosis
-
Sampson JR, Yates JRW, Pirrit LA, et al: Evidence for genetic heterogeneity in tuberous sclerosis. J Med Genet 1989;26:511-516.
-
(1989)
J. Med. Genet.
, vol.26
, pp. 511-516
-
-
Sampson, J.R.1
Yates, J.R.W.2
Pirrit, L.A.3
-
16
-
-
0025734821
-
Tuberous sclerosis complex in Olmsted County, Minnesota, 1950-1989
-
Shepherd CW, Beard CM, Gomez MR, et al: Tuberous sclerosis complex in Olmsted County, Minnesota, 1950-1989. Arch Neurol 1991;48:400-401.
-
(1991)
Arch. Neurol.
, vol.48
, pp. 400-401
-
-
Shepherd, C.W.1
Beard, C.M.2
Gomez, M.R.3
-
18
-
-
0023158819
-
Evidence that the gene for tuberous sclerosis is on chromosome 9
-
Fryer AE, Chalmers A, Connor JM, et al: Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987;i:659-661.
-
(1987)
Lancet
, Issue.1
, pp. 659-661
-
-
Fryer, A.E.1
Chalmers, A.2
Connor, J.M.3
-
19
-
-
0023266236
-
Linkage of tuberous sclerosis to ABO blood group
-
Northrup H., Beaudet AL, O'Brien WE, et al: Linkage of tuberous sclerosis to ABO blood group. Lancet 1987;ii:804-805.
-
(1987)
Lancet
, Issue.2
, pp. 804-805
-
-
Northrup, H.1
Beaudet, A.L.2
O'Brien, W.E.3
-
20
-
-
0023762842
-
Genetic recombination between tuberous sclerosis and oncogene v-abl
-
Povey S, Burley MW, Fryer AE, et al: Genetic recombination between tuberous sclerosis and oncogene v-abl. Lancet 1988;ii:279-280.
-
(1988)
Lancet
, vol.2
, pp. 279-280
-
-
Povey, S.1
Burley, M.W.2
Fryer, A.E.3
-
22
-
-
0026668709
-
Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere
-
Northrup H., Kwiatkowski DJ, Roach ES, et al: Evidence for genetic heterogeneity in tuberous sclerosis: One locus on chromosome 9 and at least one locus elsewhere. Am J Hum Genet 1992;51:709-720.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 709-720
-
-
Northrup, H.1
Kwiatkowski, D.J.2
Roach, E.S.3
-
23
-
-
0026922021
-
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
-
Kandt RS, Haines JL, Smith M, et al: Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992;2:37-41.
-
(1992)
Nat. Genet.
, vol.2
, pp. 37-41
-
-
Kandt, R.S.1
Haines, J.L.2
Smith, M.3
-
24
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
European Chromosome 16 Tuberous Sclerosis Consortium
-
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
-
-
-
25
-
-
0003436550
-
Online Mendelian Inheritance in Man, 191092
-
Available at: date accessed April 15
-
Online Mendelian Inheritance in Man, 191092. Available at: http://www.ncbi.nlm.gov/entrez/query.fegi?db=omim, date accessed April 15, 2004.
-
(2004)
-
-
-
26
-
-
0029124823
-
Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues
-
Xu L, Sterner C, Maheshwar MM, et al: Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. Genomics 1995;27:475-480.
-
(1995)
Genomics
, vol.27
, pp. 475-480
-
-
Xu, L.1
Sterner, C.2
Maheshwar, M.M.3
-
27
-
-
0003436550
-
Online Mendelian Inheritance in Man, 191100
-
Available at: date accessed April 15
-
Online Mendelian Inheritance in Man, 191100. Available at: http://www.ncbi.nlm.gov/entrez/query.fegi?db=omim, date accessed April 15, 2004.
-
(2004)
-
-
-
28
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
van Slegtenhorst M, de Hoogt R, Hermans C, et al: 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
-
29
-
-
17844369428
-
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
-
Benvenuto G, Li S, Brown SJ, et al: The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 2000;19:6306-6316.
-
(2000)
Oncogene
, vol.19
, pp. 6306-6316
-
-
Benvenuto, G.1
Li, S.2
Brown, S.J.3
-
30
-
-
0035667191
-
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin
-
Hodges AK, Li S, Maynard J, et al: Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Hum Mol Genet 2001;10:2899-2905.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2899-2905
-
-
Hodges, A.K.1
Li, S.2
Maynard, J.3
-
31
-
-
0034113402
-
Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis
-
Mizuguchi M, Ikeda K, Takashima S: Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis. Acta Neuropathol (Berl) 2000;99:503-510.
-
(2000)
Acta Neuropathol. (Berl)
, vol.99
, pp. 503-510
-
-
Mizuguchi, M.1
Ikeda, K.2
Takashima, S.3
-
32
-
-
0027996238
-
Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene
-
Yeung RS, Xiao GH, Jin F, et al: Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene. Proc Natl Acad Sci U S A 1994;91:11413-11416.
-
(1994)
Proc. Natl. Acad. Sci. U. S. A.
, vol.91
, pp. 11413-11416
-
-
Yeung, R.S.1
Xiao, G.H.2
Jin, F.3
-
33
-
-
0028830856
-
A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer
-
Kobayashi T, Hirayama Y, Kobayashi E, et al: A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. Nat Genet 1995;9:70-74.
-
(1995)
Nat. Genet.
, vol.9
, pp. 70-74
-
-
Kobayashi, T.1
Hirayama, Y.2
Kobayashi, E.3
-
34
-
-
0032741978
-
+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background
-
+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest 1999;104:687-695.
-
(1999)
J. Clin. Invest.
, vol.104
, pp. 687-695
-
-
Onda, H.1
Leuck, A.2
Marks, P.W.3
-
35
-
-
0033559663
-
Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice
-
Kobayashi T, Minowa O, Kuno J, et al: Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice. Cancer Res 1999;59:1206-1211.
-
(1999)
Cancer Res.
, vol.59
, pp. 1206-1211
-
-
Kobayashi, T.1
Minowa, O.2
Kuno, J.3
-
36
-
-
0035902509
-
A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice
-
Kobayashi T, Minowa O, Sugitani Y, et al: A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. Proc Natl Acad Sci U S A 2001;98:8762-8767.
-
(2001)
Proc. Natl. Acad. Sci. U. S. A.
, vol.98
, pp. 8762-8767
-
-
Kobayashi, T.1
Minowa, O.2
Sugitani, Y.3
-
37
-
-
0037030466
-
Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells
-
Uhlmann EJ, Apicelli AJ, Baldwin RL, et al: Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2 /- cells. Oncogene 2002;21:4050-4059.
-
(2002)
Oncogene
, vol.21
, pp. 4050-4059
-
-
Uhlmann, E.J.1
Apicelli, A.J.2
Baldwin, R.L.3
-
38
-
-
0034982971
-
TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth
-
Gao X, Pan D: TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth. Genes Dev 2001;15:1383-1392.
-
(2001)
Genes Dev.
, vol.15
, pp. 1383-1392
-
-
Gao, X.1
Pan, D.2
-
39
-
-
0035805162
-
Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size
-
Potter CJ, Huang H, Xu T: Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size. Cell 2001;105:357-368.
-
(2001)
Cell
, vol.105
, pp. 357-368
-
-
Potter, C.J.1
Huang, H.2
Xu, T.3
-
40
-
-
0037108682
-
Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors
-
Kenerson HL, Aicher LD, True LD, et al: Activated mammalian target of rapamycin pathway in the pathogenesis of tuberous sclerosis complex renal tumors. Cancer Res 2002;62:5645-5650.
-
(2002)
Cancer Res.
, vol.62
, pp. 5645-5650
-
-
Kenerson, H.L.1
Aicher, L.D.2
True, L.D.3
-
41
-
-
0030064915
-
Presence of potent transcriptional activation domains in the predisposing tuberous sclerosis (Tsc2) gene product of the Eker rat model
-
Tsuchiya H, Orimoto K, Kobayashi K, et al: Presence of potent transcriptional activation domains in the predisposing tuberous sclerosis (Tsc2) gene product of the Eker rat model. Cancer Res 1996;56:429-433.
-
(1996)
Cancer Res.
, vol.56
, pp. 429-433
-
-
Tsuchiya, H.1
Orimoto, K.2
Kobayashi, K.3
-
42
-
-
0036713778
-
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
-
Inoki K, Li Y, Zhu T, et al: TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol 2002; 4:648-657.
-
(2002)
Nat. Cell Biol.
, vol.4
, pp. 648-657
-
-
Inoki, K.1
Li, Y.2
Zhu, T.3
-
43
-
-
0036712905
-
Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling
-
Gao X, Zhang Y, Arrazola P, et al: Tsc tumour suppressor proteins antagonize amino-acid-TOR signalling. Nat Cell Biol 2002;4: 699-704.
-
(2002)
Nat. Cell Biol.
, vol.4
, pp. 699-704
-
-
Gao, X.1
Zhang, Y.2
Arrazola, P.3
-
44
-
-
0029021621
-
Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity
-
Wienecke R, Konig A, DeClue JE: Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity. J Biol Chem 1995;270:16409-16414.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 16409-16414
-
-
Wienecke, R.1
Konig, A.2
DeClue, J.E.3
-
45
-
-
0030972969
-
The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis
-
Xiao GH, Shoarinejad F, Jin F, et al: The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J Biol Chem 1997;272: 6097-6100.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 6097-6100
-
-
Xiao, G.H.1
Shoarinejad, F.2
Jin, F.3
-
46
-
-
0041356888
-
Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner
-
Castro AF, Rebhun JF, Clark GJ, et al: 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
-
47
-
-
0038433304
-
Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2
-
Garami A, Zwartkruis FJ, Nobukuni T, et al: 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
-
48
-
-
0043127125
-
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
-
Inoki K, Li Y, Xu T, et al: 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
-
49
-
-
0141733228
-
Inactivation of the tuberous sclerosis complex-1 and -2 gene products occurs by phosphoinositide 3-kinase/Akt-dependent and -independent phosphorylation of tuberin
-
Tee AR, Anjum R, Blenis J: Inactivation of the tuberous sclerosis complex-1 and -2 gene products occurs by phosphoinositide 3-kinase/Akt-dependent and -independent phosphorylation of tuberin. J Biol Chem 2003;278:37288-37296.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 37288-37296
-
-
Tee, A.R.1
Anjum, R.2
Blenis, J.3
-
50
-
-
0038141979
-
Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins
-
Zhang Y, Gao X, Saucedo LJ, et al: 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
-
51
-
-
0347065349
-
Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B
-
Astrinidis A, Senapedis W, Coleman TR, et al: Cell cycle-regulated phosphorylation of hamartin, the product of the tuberous sclerosis complex 1 gene, by cyclin-dependent kinase 1/cyclin B. J Biol Chem 2003;278:51372-51379.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 51372-51379
-
-
Astrinidis, A.1
Senapedis, W.2
Coleman, T.R.3
-
52
-
-
0037191045
-
Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent
-
Jaeschke A, Hartkamp J, Saitoh M, et al: Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent. J Cell Biol 2002;159:217-224.
-
(2002)
J. Cell Biol.
, vol.159
, pp. 217-224
-
-
Jaeschke, A.1
Hartkamp, J.2
Saitoh, M.3
-
53
-
-
2442700142
-
Critical role of T-loop and H-motif phosphorylation in the regulation of S6 kinase 1 by the tuberous sclerosis complex
-
Shah OJ, Hunter T: Critical role of T-loop and H-motif phosphorylation in the regulation of S6 kinase 1 by the tuberous sclerosis complex. J Biol Chem 2004;279(20):10816-20823.
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.20
, pp. 10816-20823
-
-
Shah, O.J.1
Hunter, T.2
-
54
-
-
0033775869
-
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
-
Lamb RF, Roy C, Diefenbach TJ, et al: The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat Cell Biol 2000;2:281-287.
-
(2000)
Nat. Cell Biol.
, vol.2
, pp. 281-287
-
-
Lamb, R.F.1
Roy, C.2
Diefenbach, T.J.3
-
55
-
-
0037028305
-
Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration
-
Astrinidis A, Cash TP, Hunter DS, et al: Tuberin, the tuberous sclerosis complex 2 tumor suppressor gene product, regulates Rho activation, cell adhesion and migration. Oncogene 2002; 21:8470-8476.
-
(2002)
Oncogene
, vol.21
, pp. 8470-8476
-
-
Astrinidis, A.1
Cash, T.P.2
Hunter, D.S.3
-
56
-
-
0037533706
-
Regulation of cell morphology and adhesion by the tuberous sclerosis complex (TSC1/2) gene products in human kidney epithelial cells through increased E-cadherin/beta-catenin activity
-
Li S, Braverman R, Li H, et al: Regulation of cell morphology and adhesion by the tuberous sclerosis complex (TSC1/2) gene products in human kidney epithelial cells through increased E-cadherin/beta-catenin activity. Mol Carcinog 2003;37:98-109.
-
(2003)
Mol. Carcinog
, vol.37
, pp. 98-109
-
-
Li, S.1
Braverman, R.2
Li, H.3
-
57
-
-
0037458733
-
The tuberin-hamartin complex negatively regulates beta-catenin signaling activity
-
Mak BC, Takemaru K, Kenerson HL, et al: The tuberin-hamartin complex negatively regulates beta-catenin signaling activity. J Biol Chem 2003;278:5947-5951.
-
(2003)
J Biol. Chem.
, vol.278
, pp. 5947-5951
-
-
Mak, B.C.1
Takemaru, K.2
Kenerson, H.L.3
-
58
-
-
0038190932
-
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, et al: The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3. J Biol Chem 2003;278: 13663-13671.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 13663-13671
-
-
Li, Y.1
Inoki, K.2
Vacratsis, P.3
-
59
-
-
0037864532
-
Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins
-
Nellist M, Goedbloed MA, Halley DJ: Regulation of tuberous sclerosis complex (TSC) function by 14-3-3 proteins. Biochem Soc Trans 2003;31(Pt 3):587-591.
-
(2003)
Biochem. Soc. Trans.
, vol.31
, Issue.PART 3
, pp. 587-591
-
-
Nellist, M.1
Goedbloed, M.A.2
Halley, D.J.3
-
60
-
-
2442553024
-
Regulation of PCNA and CAF-1 expression by the two tuberous sclerosis gene products
-
Hengstschlager M, Rosner M, Fountoulakis M, et al: Regulation of PCNA and CAF-1 expression by the two tuberous sclerosis gene products. Biochem Biophys Res Commun 2003;307:737-742.
-
(2003)
Biochem. Biophys. Res. Commun.
, vol.307
, pp. 737-742
-
-
Hengstschlager, M.1
Rosner, M.2
Fountoulakis, M.3
-
61
-
-
0041333070
-
Tuberous sclerosis-associated neoplasms express activated p42/44 mitogen-activated protein (MAP) kinase, and inhibition of MAP kinase signaling results in decreased in vivo tumor growth
-
Govindarajan B, Mizesko MC, Miller MS, et al: Tuberous sclerosis-associated neoplasms express activated p42/44 mitogen-activated protein (MAP) kinase, and inhibition of MAP kinase signaling results in decreased in vivo tumor growth. Clin Cancer Res 2003;9:3469-3475.
-
(2003)
Clin. Cancer Res.
, vol.9
, pp. 3469-3475
-
-
Govindarajan, B.1
Mizesko, M.C.2
Miller, M.S.3
-
62
-
-
0942301309
-
Tuberous sclerosis-2 tumor suppressor modulates ERK and B-Raf activity in transformed renal epithelial cells
-
Yoon HS, Ramachandiran S, Chacko MA, et al: Tuberous sclerosis-2 tumor suppressor modulates ERK and B-Raf activity in transformed renal epithelial cells. Am J Physiol Renal Physiol 2004;286:F417-F424.
-
(2004)
Am. J. Physiol. Renal Physiol.
, vol.286
-
-
Yoon, H.S.1
Ramachandiran, S.2
Chacko, M.A.3
-
63
-
-
15644378138
-
Kip1 and facilitate the progression from G1 to S phase in growth-stimulated rat FRTL-5 cells
-
Kip1 and facilitate the progression from G1 to S phase in growth-stimulated rat FRTL-5 cells. J Biol Chem 1997;272:13-16.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 13-16
-
-
Hirai, A.1
Nakamura, S.2
Noguchi, Y.3
-
64
-
-
1642273620
-
Rho GTPases as key transducers of proliferative signals in G1 cell cycle regulation
-
Welsh CF: Rho GTPases as key transducers of proliferative signals in G1 cell cycle regulation. Breast Cancer Res Treat 2004;84:33-42.
-
(2004)
Breast Cancer Res. Treat
, vol.84
, pp. 33-42
-
-
Welsh, C.F.1
-
65
-
-
0036478805
-
A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis
-
Noonan DJ, Lou D, Griffith N, et al: A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis. Arch Biochem Biophys 2002;398:132-140.
-
(2002)
Arch. Biochem. Biophys.
, vol.398
, pp. 132-140
-
-
Noonan, D.J.1
Lou, D.2
Griffith, N.3
-
66
-
-
0043245151
-
Regulation of PDGF production and ERK activation by estrogen is associated with TSC2 gene expression
-
Finlay GA, York B, Karas RH, et al: Regulation of PDGF production and ERK activation by estrogen is associated with TSC2 gene expression. Am J Physiol Cell Physiol 2003;285:C409-C418.
-
(2003)
Am. J. Physiol. Cell Physiol.
, vol.285
-
-
Finlay, G.A.1
York, B.2
Karas, R.H.3
-
67
-
-
0035167932
-
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, et al: Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001;68:64-80.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
-
68
-
-
0030041515
-
Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation
-
Green AJ, Sepp T, Yates JR: Clonality of tuberous sclerosis harmatomas shown by non-random X-chromosome inactivation. Hum Genet 1996;97:240-243.
-
(1996)
Hum. Genet.
, vol.97
, pp. 240-243
-
-
Green, A.J.1
Sepp, T.2
Yates, J.R.3
-
69
-
-
0028051871
-
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - A contiguous gene syndrome
-
Brook-Carter PT, Peral B, Ward CJ, et al.: Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 1994; 8:328-332.
-
(1994)
Nat. Genet.
, vol.8
, pp. 328-332
-
-
Brook-Carter, P.T.1
Peral, B.2
Ward, C.J.3
-
70
-
-
0030696314
-
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis
-
Jones AC, Daniells CE, Snell RG, et al: Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 1997;6:2155-2161.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2155-2161
-
-
Jones, A.C.1
Daniells, C.E.2
Snell, R.G.3
-
71
-
-
0033365408
-
Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis
-
Jones AC, Shyamsundar MM, Thomas MW, et al: Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999;64:1305-1315.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
-
72
-
-
0035105278
-
TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene
-
Longa L, Saluto A, Brusco A, et al: TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene. Hum Genet 2001;108:156-166.
-
(2001)
Hum. Genet.
, vol.108
, pp. 156-166
-
-
Longa, L.1
Saluto, A.2
Brusco, A.3
-
73
-
-
0031881032
-
The genetic basis of tuberous sclerosis
-
Young J, Povey S: The genetic basis of tuberous sclerosis. Mol Med Today 1998;4:313-319.
-
(1998)
Mol. Med. Today
, vol.4
, pp. 313-319
-
-
Young, J.1
Povey, S.2
-
74
-
-
0032726851
-
Analysis of both TSC1 and TSC2 for germline, mutations in 126 unrelated patients with tuberous sclerosis
-
Niida Y, Lawence-Smith N, Banwell A, et al: Analysis of both TSC1 and TSC2 for germline, mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat 1999;14:412-422.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 412-422
-
-
Niida, Y.1
Lawence-Smith, N.2
Banwell, A.3
-
75
-
-
0032903806
-
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: No evidence for genotype-phenotype correlation
-
van Slegtenhorst M, Verhoef S, Tempelars A, et al: Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: No evidence for genotype-phenotype correlation. J Med Genet 1999;36:285-289.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 285-289
-
-
van Slegtenhorst, M.1
Verhoef, S.2
Tempelars, A.3
-
76
-
-
15444359557
-
Malignant rumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex
-
Al-Saleem T, Wessner LL, Scheithauer BW, et al: Malignant rumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex. Cancer 1998;83:2208-2216.
-
(1998)
Cancer
, vol.83
, pp. 2208-2216
-
-
Al-Saleem, T.1
Wessner, L.L.2
Scheithauer, B.W.3
-
77
-
-
0023886696
-
Perinatal lethal osteogenesis imperfecta (OI type II): A biochemically heterogeneous disorder usually due to a new mutation in the genes for type I collagen
-
Byers PH, Tsipouras P, Bonadio JF, et al: Perinatal lethal osteogenesis imperfecta (OI type II): A biochemically heterogeneous disorder usually due to a new mutation in the genes for type I collagen. Am J Hum Genet 1988;42:237-248.
-
(1988)
Am. J. Hum. Genet.
, vol.42
, pp. 237-248
-
-
Byers, P.H.1
Tsipouras, P.2
Bonadio, J.F.3
-
78
-
-
0022967215
-
The population genetics of Duchenne: Natural and artificial selection in Duchenne muscular dystrophy
-
Edwards JH: The population genetics of Duchenne: Natural and artificial selection in Duchenne muscular dystrophy. J Med Genet 1986;23:521-530.
-
(1986)
J. Med. Genet.
, vol.23
, pp. 521-530
-
-
Edwards, J.H.1
-
79
-
-
0342584915
-
Frequent somatic and germ-line mosaicism in retinoblastoma: Relevance to genetic counseling
-
Sippel KC, Fraioli RF, Smith GD, et al: Frequent somatic and germ-line mosaicism in retinoblastoma: Relevance to genetic counseling. Am J Hum Genet 1997;Suppl 61(4):A16.
-
(1997)
Am. J. Hum. Genet.
, Issue.4 SUPPL. 61
-
-
Sippel, K.C.1
Fraioli, R.F.2
Smith, G.D.3
-
80
-
-
4244168278
-
Molecular analysis of the VHL gene: Somatic mosaicism in von Hippel-Lindau disease
-
Murgia A, Martella M, Vinanzi C, et al: Molecular analysis of the VHL gene: Somatic mosaicism in von Hippel-Lindau disease. Am J Hum Genet 1997;Suppl 61(4):A75.
-
(1997)
Am. J. Hum. Genet.
, Issue.4 SUPPL. 61
-
-
Murgia, A.1
Martella, M.2
Vinanzi, C.3
-
81
-
-
0028779847
-
Neurofibromatosis type I due to germ-line mosaicism in a clinically normal father
-
Lazaro C, Ravella A, Gaona A, et al: Neurofibromatosis type I due to germ-line mosaicism in a clinically normal father. N Engl J Med 1994;331:1403-1407.
-
(1994)
N. Engl. J. Med.
, vol.331
, pp. 1403-1407
-
-
Lazaro, C.1
Ravella, A.2
Gaona, A.3
-
82
-
-
16944367389
-
Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene
-
Sampson JR, Maheshwar MM, Aspinwall R, et al: Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997;61:843-851.
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 843-851
-
-
Sampson, J.R.1
Maheshwar, M.M.2
Aspinwall, R.3
-
83
-
-
0028797643
-
Somatic mosaicism and clinical variation in tuberous sclerosis complex
-
Verhoef S, Vrtel R, van Essen T, et al: Somatic mosaicism and clinical variation in tuberous sclerosis complex. Lancet 1995; 345:202.
-
(1995)
Lancet
, vol.345
, pp. 202
-
-
Verhoef, S.1
Vrtel, R.2
van Essen, T.3
-
84
-
-
0033358599
-
Germ-line mosaicism in tuberous sclerosis: How common?
-
Rose VM, Au K-S, Pollom G, et al: Germ-line mosaicism in tuberous sclerosis: How common? Am J Hum Genet 1999;64: 986-992.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 986-992
-
-
Rose, V.M.1
Au, K.-S.2
Pollom, G.3
-
85
-
-
0030772273
-
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis
-
Yates JR, van Bakkel I, Sepp T, et al: Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 1997;6:2265-2269.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2265-2269
-
-
Yates, J.R.1
van Bakkel, I.2
Sepp, T.3
-
87
-
-
8844240126
-
Genetic heterogeneity in a tuberous sclerosis family: Implications for genetic counseling
-
Williams AT, Northrup H, Au K-S, et al: Genetic heterogeneity in a tuberous sclerosis family: Implications for genetic counseling. Am J Hum Genet 2003;73:362.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 362
-
-
Williams, A.T.1
Northrup, H.2
Au, K.-S.3
|