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 |
Biomarker
|
disease |
BEFREE |
Tsc2 heterozygous mutant (Tsc2+/-) mice developed renal carcinomas with a complete penetrance, as seen in the Eker rat, but not the angiomyolipomas characteristic of human TSC, confirming the existence of a species-specific mechanism of tumorigenesis caused by tuberin deficiency.
|
10096549 |
1999 |
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 |
Twelve of the patients had known renal angiomyolipomas.No TSC2 mutations were detected.
|
10633137 |
2000 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In addition, the patient had no evidence of a renal angiomyolipoma at autopsy and therefore demonstrated for the first time that somatic TSC2 mutations cause LAM in patients without angiomyolipomas.
|
12411287 |
2003 |
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 |
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 |
LHGDN |
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 |
GeneticVariation
|
disease |
BEFREE |
Two of the most unusual phenotypes in TSC are the apparent metastasis of benign cells carrying TSC1 and TSC2 mutations, resulting in pulmonary lymphangiomyomatosis, and the ability of cells with TSC1 or TSC2 mutations to differentiate into the separate components of renal angiomyolipomas (vessels, smooth muscle and fat).
|
16288294 |
2005 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
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 |
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 |
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 |
TSC-2 gene encodes tuberin, a protein involved in the pathogenesis of kidney tumors, both angiomyolipomas and renal cell carcinomas.
|
19265534 |
2009 |
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 |
Our data show for the first time that methylation of the TSC2 promoter might cause a complete loss of tuberin in TSC2 cells, and that the pathogenesis of angiomyolipomas might also originate from epigenetic defects in smooth muscle cells.
|
19443708 |
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 |
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 |
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 |
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 |