TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
LAM and TSC are caused by mutations in the TSC1 or TSC2 tumor suppressor genes leading to elevated mechanistic/mammalian target of rapamycin complex activity.
|
31437431 |
2019 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is caused by mutations in the TSC1 and TSC2 tumor suppressor genes.
|
27493206 |
2016 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we report that patient-derived fibroblasts from three monogenic models of ASD-fragile X and tuberous sclerosis TSC1 and TSC2 syndromes-display depressed Ca(2+) release through inositol trisphosphate receptors (IP3Rs).
|
26393489 |
2015 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC), caused by dominant mutations in either TSC1 or TSC2 tumour suppressor genes is characterized by the presence of brain malformations, the cortical tubers that are thought to contribute to the generation of pharmacoresistant epilepsy.
|
25081057 |
2014 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the TSC1 and TSC2 tumor suppressor genes determin overactivation of the mammalian target of rapamycin (mTOR) signaling pathway and subsequent abnormalities in numerous cell processes.
|
24044547 |
2013 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
CONCLUSION Inhibition of mTORC1, pathologically activated by loss of the TSC1/TSC2 tumor suppressor complex, is a rational mechanistic target for therapy in PEComas.
|
20048174 |
2010 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in either TSC1 or TSC2 tumor suppressor gene are responsible for TSC.
|
19297407 |
2009 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TSC derives from inactivating mutations of either the TSC1 or TSC2 tumor suppressor gene, and the resulting inactivation of the TSC1/TSC2 protein complex causes hyperactivation of the mammalian target of rapamycin (mTOR), leading to uncontrolled cell growth and proliferation.
|
19539245 |
2009 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The global renal involvement ranged from 0 to 32% (median, 18%) in TSC1 and from 0 to 100% (median, 39%) in TSC2 patients.
|
18835118 |
2009 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TSC is caused by mutation in either TSC1 or TSC2 tumor suppressor genes that negatively regulate insulin-induced S6K activation and cell growth.
|
16996505 |
2006 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis is an autosomal dominant human disorder caused by inactivating mutations to either the TSC1 or TSC2 tumour suppressor gene.
|
15483652 |
2005 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The TSC1-TSC2 tumor suppressor complex serves as an interface between insulin and nutrient signaling pathways and the cell growth machinery.
|
15611656 |
2005 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, recent advances in TSC1/TSC2 signaling open the door for targeted therapy for TSC patients.
|
15856327 |
2005 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This disease is caused by mutations in the TSC1 or TSC2 tumor suppressor genes; the molecular mechanisms underlying the activity of these have long been elusive.
|
15102439 |
2004 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a genetic disease caused by a mutation in either the tsc1 or tsc2 tumor suppressor gene.
|
15340059 |
2004 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in either TSC1 or TSC2 tumor suppressor gene.
|
15175323 |
2004 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The LKB1 tumor suppressor protein controls the activity of the TSC1/TSC2 tumor suppressor complex.
|
15261137 |
2004 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in either the TSC1 or TSC2 tumor suppressor gene are responsible for Tuberous Sclerosis Complex.
|
14651849 |
2003 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The disease is caused by inactivation of either hamartin or tuberin, the products of the TSC1 and TSC2 tumour-suppressor genes.
|
12773161 |
2003 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutation in either the TSC1 or TSC2 tumor suppressor gene is responsible for the inherited genetic disease of tuberous sclerosis complex.
|
12364343 |
2002 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutation in either the TSC1 or TSC2 tumour suppressor gene is responsible for both the familial and sporadic forms of this disease.
|
12172553 |
2002 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations to either of the TSC1 and TSC2 tumour suppressor genes are responsible for the disease.
|
11741832 |
2001 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TS) is characterized by the development of hamartomas in various organs and is caused by a germ-line mutation in either TSC1 or TSC2 tumor suppressor genes.
|
11438694 |
2001 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations to the TSC1 and TSC2 tumour suppressor genes.
|
11781698 |
2001 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours.
|
11129334 |
2000 |