TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss of heterozygosity (LOH) at the TSC1 and TSC2 loci in lesions from TSC patients has recently been reported.
|
7547639 |
1995 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
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 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
With the exception of a contiguous gene deletion syndrome involving TSC2 and PKD1 , TSC1 and TSC2 phenotypes have been considered identical.
|
9328481 |
1997 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppressor gene.
|
9580671 |
1998 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Upon comparison of clinical manifestations, including the incidence of intellectual disability, we could not find any observable differences between TSC1 and TSC2 patients.
|
10533067 |
1999 |
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 |
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 |
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 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 |
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 |
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 |
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 |
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 |
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 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 |
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 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 |
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 |
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 |
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 |
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 |