|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We studied immortalized cells that lack TSC2 derived from an angiomyolipoma of a patient with LAM, a TSC2 addback derivative, and murine embryonic fibroblast cells that lack Tsc1 or -2 and respective controls.
|
19395678 |
2010 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, rapamycin further increased uPA expression in TSC2-null tumor cells and immortalized TSC2-null angiomyolipoma cells, but not in cells with intact TSC.
|
28972182 |
2017 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Phase I/II clinical trials of the mTORC1 inhibitor rapamycin have demonstrated reduction in size of tuberous-sclerosis- and LAM-associated renal tumours (angiomyolipomas) and some evidence for reversible improvement in lung function in patients with LAM.
|
19143643 |
2009 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The frequent deletion of 16p in which TSC2 gene is located indicates the oncogenetic relationship of PEComas with angiomyolipoma as a TSC2-linked neoplasm.
|
16647959 |
2006 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Our observations of frequent deletion of TSC2 and the mTOR signalling pathway provide evidence that the oncogenetic lineage of PEComa, as a distinct TSC2-linked neoplasm, is similar to that of angiomyolipoma.
|
18085521 |
2008 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We recently show that the constitutive expression of OGG1 in heterozygous (TSC2+/-) Eker rat and in angiomyolipomas kidney tissue from human is 2-3fold less than in kidney from wild-type rats and control human subjects.
|
20687497 |
2010 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Similarly, we found elevated levels of Nox4 in the renal cortex of Tsc2+/- mice and in the renal angiomyolipomas from TSC patients.
|
29491408 |
2018 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Previously we found that these patients had TSC2 mutations and TSC2 LOH in their angiomyolipomas and pulmonary LAM cells but not in normal lung or kidney cells.
|
11704609 |
2001 |
|
Angiomyolipoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
TSC2 inactivation by mutation is a consistent and likely necessary genetic event in the pathogenesis of most angiomyolipoma.
|
21949787 |
2011 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Tuberin (TSC2) was weak or absent in angiomyolipomas, but present in healthy kidney, whereas, phosphorylated p70 S6 kinase and p56 were present only in angiomyolipomas.
|
12711473 |
2003 |
|
Angiomyolipoma
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Our data demonstrate that somatic mutations in the TSC2 gene occur in the angiomyolipomas and pulmonary LAM cells of women with sporadic LAM, strongly supporting a direct role of TSC2 in the pathogenesis of this disease.
|
10823953 |
2000 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mTOR inhibitor, Rapamycin, stabilizes lung function in LAM and decreases the volume of renal angiomyolipomas, but lung function declines and angiomyolipomas regrow when treatment is discontinued, suggesting that factors induced by mTORC1 inhibition may promote the survival of TSC2-deficient cells.
|
23555865 |
2013 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied angiomyolipomas with loss of heterozygosity (LOH) in the TSC2 region of chromosome 16p13 from patients with LAM.
|
12547707 |
2003 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Twelve of the patients had known renal angiomyolipomas.No TSC2 mutations were detected.
|
10633137 |
2000 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study showed that patients with TSC2 mutations had higher frequency of hypomelanotic macules and dental enamel pits and larger angiomyolipomas (AMLs) than patient populations with non-TSC2 mutations through analysis of the correlated mutation findings with clinical features.
|
28065512 |
2017 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study shows that angiomyolipoma-derived human smooth muscle TSC2-/- cells express the apoptosis inhibitor protein survivin when exposed to IGF-1.
|
17592551 |
2007 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The high-expressing12CA repeat variant of the IFNG gene was suggested to contribute lower risk for kidney angiomyolipomas in patients with TSC2 gene mutations.
|
19005330 |
2008 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mechanisms by which tuberin regulates fibrosis in kidney angiomyolipomas (AMLs) of tuberous sclerosis patients are not fully known.
|
23705901 |
2013 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Loss of TSC2 results in benign tumors, neurological disorders, and angiomyolipomas.
|
19648120 |
2009 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Loss of heterozygosity (LOH) in the chromosomal region for the TSC2 gene occurs in 60% of TSC-associated angiomyolipomas.
|
9529362 |
1998 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Prevalence of angiomyolipoma was higher in patients with TSC2 compared with TSC1 mutations (59.2% versus 33.3%, P < 0.01).
|
29697822 |
2019 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.
|
31077186 |
2019 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We report here the expression of hamartin, the product of the TSC1 gene, in normal human tissues and in renal angiomyolipomas from TSC1- and TSC2-linked patients.
|
10349994 |
1999 |
|
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common renal lesions of tuberous sclerosis complex, an autosomal-dominant syndrome resulting from losses of TSC1 (9q34) or TSC2 (16p13.3), are renal cysts and angiomyolipomas.Epithelial neoplasms are less common.
|
11812941 |
2002 |
|
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Angiomyolipoma cells exhibited enhanced sensitivity to proteasome inhibitor-induced ER stress compared with TSC2-rescued cells.
|
22791333 |
2012 |