TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
To elucidate the potential underlying mechanism, we re-analyzed previously reported protein interactomes, and detected a high connectivity between Shank3 and several upstream regulators of mTORC1, such as tuberous sclerosis 1 (TSC1), TSC2 and Ras homolog enriched in striatum (Rhes), via 94 common interactors that we denominated "Shank3-mTORC1 interactome".
|
28701918 |
2017 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.
|
27493206 |
2016 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported.
|
23389244 |
2013 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Deletion of the genes for Tuberous Sclerosis 1 (Tsc1) or Tsc2, regulators of mTORC1 that are downstream of LKB1 signaling, in the oviductal and uterine stroma phenocopies some of the defects observed in Lkb1 mutant mice, confirming that dysregulated mTORC1 activation in the Lkb1-deleted stroma contributes to the phenotype.
|
22916036 |
2012 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mammalian target of rapamycin (mTOR) regulates various cellular functions, including tumorigenesis, and is inhibited by the tuberous sclerosis 1 (TSC1)-TSC2 complex.
|
20145209 |
2010 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
No patients with S-LAM with TSC1 LOH were identified, suggesting that TSC2 abnormalities are responsible for the vast majority of S-LAM cases and that TSC1-disease may be subclinical.
|
20639436 |
2010 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
While the predominant size of cysts did not differ across these three groups, TSC2 women with LAM had a significantly greater number of cysts than did TSC1 patients (p = 0.010).
|
19419980 |
2009 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
A greater than expected ratio of TSC2 to TSC1 patients was observed across this IS population.
|
18801034 |
2009 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic epistasis data are consistent with a model that Tsc1 and Tsc2 function together in the insulin signaling pathway.
|
11348592 |
2001 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
|
11112665 |
2001 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A combination of linkage analysis and direct sequencing eliminate several likely candidate genes, including tuberous sclerosis 1 and 2 genes (TSC1 and TSC2) and the tumor suppressor gene TP53.
|
10759551 |
2000 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene.
|
9108092 |
1997 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.
|
9302281 |
1997 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
BEFREE |
This could indicate that TSC2 tumors are more likely than TSC1 tumors to require surgical resection or that TSC2 is more common than TSC1 in our patient population.
|
8755927 |
1996 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis.
|
8944308 |
1996 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Molecular genetic basis of renal carcinogenesis in the Eker rat model of tuberous sclerosis (Tsc2).
|
7546221 |
1995 |
TUBEROUS SCLEROSIS 1 (disorder)
|
0.400 |
Biomarker
|
disease |
CLINGEN |
Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene.
|
7972075 |
1994 |