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 |
Notably initial chest and abdominal CT did not reveal characteristic pulmonary cysts or the presence of angiomyolipomas suggestive of LAM.
|
31300601 |
2019 |
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 |
Biomarker
|
disease |
BEFREE |
NGS on an EAML patient with an extraordinary response to sirolimus uncovered TSC2 inactivation as the mechanism for the response.
|
29764404 |
2018 |
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This Review describes important advances in the TSC field and highlights several remaining critical knowledge gaps: the factors that promote aggressive behaviour by a subset of TSC-associated RCCs; the molecular mechanisms underlying early-onset cystogenesis in TSC2-PKD1 contiguous gene deletion syndrome; the effect of early, long-term mTORC1 inhibition on the development of TSC renal disease; and the identification of the cell or cells of origin of angiomyolipomas.
|
30232410 |
2018 |
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Using RNA-Seq, we identified (1) Insulin-like Growth Factor (IGF2) as one of the genes with the highest fold-change difference between human TSC2-null and TSC2-expressing angiomyolipoma cells from a patient with LAM, and (2) the mouse IGF2 homolog Igf2, as a top-ranking gene according to fold change between Tsc2-/- and Tsc2+/+ mouse embryo fibroblasts (MEFs).
|
29758070 |
2018 |
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 |
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 |
Our results indicate that TSC2 and less commonly TSC1 alterations are the primary essential driver event in angiomyolipoma/LAM, whereas other somatic mutations are rare and likely do not contribute to tumor development.
|
27494029 |
2016 |
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Urotensin-II-induced proliferation and migration were reproduced in TSC2-deficient human angiomyolipoma cells, but not in those stably expressing TSC2.
|
27458154 |
2016 |
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The exosome-mediated mechanisms may also operate in the cells of angiomyolipoma (AML), which develops as a result of mutations in TSC1/TSC2 genes in TSC patients, because we observed the reactivation of mammalian target of rapamycin and Notch pathways, driven by the delivery of Rheb and Notch1 esRNA, in AML cells depleted of Rheb that were treated with the exosomes purified from AML cells with the constitutively high Rheb levels.
|
26434588 |
2016 |
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
PKD1 lays immediately adjacent to TSC2 and deletions involving both genes, the PKD1/TSC2 contiguous gene syndrome (CGS), are characterized by severe ADPKD, plus TSC. mTOR inhibitors have proven effective in reducing angiomyolipoma (AML) in TSC and total kidney volume in ADPKD but without a positive effect on renal function.
|
26077033 |
2015 |
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These observations confirm the strong association between TSC2 mutation and angiomyolipoma burden seen in previous studies, and they indicate that everolimus response occurs regardless of mutation type or location or when no mutation in TSC1 or TSC2 has been identified.
|
25782670 |
2015 |
Angiomyolipoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.
|
25281918 |
2014 |
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 |
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 |
Angiomyolipoma cells exhibited enhanced sensitivity to proteasome inhibitor-induced ER stress compared with TSC2-rescued cells.
|
22791333 |
2012 |
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
TSC2-deficient human cells, derived from the angiomyolipoma of a LAM patient, were engineered to co-express both sodium-iodide symporter (NIS) and green fluorescent protein (GFP).
|
22719903 |
2012 |
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 |
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 |
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 |
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 |
Loss of TSC2 results in benign tumors, neurological disorders, and angiomyolipomas.
|
19648120 |
2009 |
Angiomyolipoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
TSC-2 gene encodes tuberin, a protein involved in the pathogenesis of kidney tumors, both angiomyolipomas and renal cell carcinomas.
|
19265534 |
2009 |