TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
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)
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
During the period of acute hepatitis (16-17 weeks), we observed decreased Nth1 and Tsc2 mRNA levels and a continued decrease of the Tsc2 gene in 24 weeks in LEC rats, while the effect was minimal in Long-Evans Agouti (LEA) rats.
|
20033472 |
2010 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Employing a transient transfection-based approach to rescue TSC2 function in muscles of the iTSC2KO mice, we demonstrated that these phosphorylation sites are required for the role that TSC2 plays in the EC-induced activation of mTOR signaling.
|
28289099 |
2017 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
As a model for mTORC1 activation we used gene suppression of its physiological inhibitor TSC2 (TSC2sh).
|
28969371 |
2017 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
The function of the TSC2/Tsc2 gene product (called "tuberine" in the human case) is not yet understood, although it contains a short amino acid sequence homologous to the ras family GTPase-activating proteins (GAP3).
|
7559744 |
1995 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
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)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Renal tumors derived from 2,3,5-tris-(glutathion-S-yl)hydroquinone (TGHQ)-treated Tsc-2(EK/+) rats, and null for tuberin, display elevated nuclear and cytosolic p27, with parallel increases in cytosolic cyclin D1 levels.
|
21693435 |
2011 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
This case reveals that although PKD1 and TSC2 are adjacent genes and there is likely cross-talk between the PKD1 and TSC2 signalling pathways regulating mTOR, having independent TSC2 and PKD1 mutations can give rise to a milder kidney phenotype than is typical in PKD1/TSC2-CGS cases.
|
26077033 |
2015 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM).
|
12045200 |
2002 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Has mother has a tuberous sclerosis 2 (TSC 2) gene abnormality and a diagnosis of tuberous sclerosis.
|
27174083 |
2016 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
We showed that GBE treatment induced an increase of phosphorylated IGF1R (Tyr1135/Tyr1136), Akt (Ser473), TSC2 (Ser939), mTOR (Ser2448), PTEN (Ser380) and GSK3β (Ser9).
|
31790465 |
2019 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
The characteristics of the contiguous PKD1/TSC2 syndrome phenotypes and the data from Krd mice imply that TSC2 and PAX2 may also serve as potential modifiers for the disease severity of autosomal-dominant polycystic kidney disease.
|
11195048 |
2001 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Previously reported "in vitro" experiments with mouse 3T3 fibroblasts demonstrated oncogenic potential of PIK3CB p.D1067V and mTOR p.L2209V mutants; whereas, PolyPhen-2 software analysis predicted TSC2 p.K347R mutation to likely have a damaging impact on tuberin function.
|
28777148 |
2019 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Similar changes are observed in Raf kinases following TGHQ-mediated transformation of primary renal epithelial cells derived from Tsc-2(EK/+) rats (QTRRE cells), cells that are also null for tuberin.
|
26333016 |
2016 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Homozygous knock-in mice that express a phosphorylation-silencing mutation in TSC2 (TSC2(S1365A)) develop worse heart disease and have higher mortality after sustained pressure overload of the heart, owing to mTORC1 hyperactivity that cannot be rescued by PKG1 stimulation.
|
30700906 |
2019 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
According to these results, this patient should be considered as having SEGA that developed from two somatic hit mutations in TSC2, rather than being a TSC2 patient with a very small fraction of somatic mosaicism.
|
16237225 |
2005 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Similar changes are observed following TGHQ-mediated transformation of primary renal epithelial cells derived from Tsc-2(EK/+) rats (quinol-thioether rat renal epithelial [QTRRE] cells) that are also null for tuberin.
|
21813464 |
2011 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization of the 5' region of Tsc2 and TSC2 will facilitate studies of the regulation of the gene and its disregulation in tumorigenesis.
|
9250859 |
1997 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
Biomarker
|
disease |
BEFREE |
Tuberin, the protein product of the tuberous sclerosis complex-2 (TSC2) tumor suppressor gene, has been shown to directly inhibit cell growth and is expressed at high levels in normal central nervous system neurons and astrocytes.
|
9266734 |
1997 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Activated NF-κB promoted AKT-mediated phosphorylation of the GLUT1 regulator, AKT substrate of 160kD (AS160), but was not required for AKT phosphorylation of the mTOR regulator Tuberous Sclerosis 2 (TSC2).
|
21987722 |
2011 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.
|
25281918 |
2014 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Giant angiofibromas in tuberous sclerosis complex: a possible role for localized lymphedema in their pathogenesis.
|
22552000 |
2012 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.
|
10607950 |
2000 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects.
|
10533066 |
1999 |
TUBEROUS SCLEROSIS 2 (disorder)
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.
|
28127866 |
2017 |