|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
We also found TSC2 LOH in four lymph nodes from a woman with retroperitoneal LAM.No TSC1 LOH was found.
|
9529362 |
1998 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.
|
10069705 |
1999 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
We previously found TSC2 loss of heterozygosity in 7 of 13 (54%) of angiomyolipomas from sporadic LAM patients, suggesting that LAM and TSC could have a common genetic basis.
|
10823953 |
2000 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical stains of both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2).
|
10934115 |
2000 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We examined all 41 exons of the TSC2 gene and 21 coding exons of the TSC1 gene for mutations in a group of 14 women with both TSC and LAM using single-strand conformation polymorphism analysis.
|
11208653 |
2001 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
It is suggested that MMPH, in addition to LAM, could be another pulmonary lesion in TSC patients and that the detection of TSC2 and/or TSC1 gene could essentially be useful for the pathogenesis of MMPH and LAM in TSC patients.
|
11406664 |
2001 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathogenesis of multifocal micronodular pneumocyte hyperplasia and lymphangioleiomyomatosis in tuberous sclerosis and association with tuberous sclerosis genes TSC1 and TSC2.
|
11564212 |
2001 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, our study indicates that a fraction of sporadic LAM can be a TSC1 disease; therefore, both TSC genes should be examined, even for patients with sporadic LAM.
|
11829138 |
2002 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.
|
12112044 |
2002 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recent studies, however, revealed that both forms of LAM are genetically related but that sporadic LAM is a distinct clinical entity caused by somatic mutations of TSC2 (not TSC1) rather than a forme fruste of TSC carrying either of the TSC1 or TSC2 germline mutations.
|
15257730 |
2004 |
|
Lymphangioleiomyomatosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
These data demonstrate that TSC2 controls cell migration through its N-terminus by associating with TSC1 and regulating RhoA activity, suggesting that TSC2 may play a critical role in modulating cell migration and invasiveness, which contributes to the pathobiology of LAM.
|
16388022 |
2006 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this review we describe the evolution of our understanding of the molecular and cellular basis of LAM and TSC, beginning with the discovery of the TSC1 and TSC2 genes and the demonstration of their involvement in sporadic (non-TSC) LAM.
|
17099139 |
2007 |
|
Lymphangioleiomyomatosis
|
0.700 |
SomaticCausalMutation
|
disease |
ORPHANET |
Pulmonary lymphangioleiomyomatosis (LAM): progress and current challenges.
|
17541983 |
2008 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this review, we will summarize the progress made in our understanding of TSC1/TSC2 cellular signaling and the molecular mechanisms of LAM; we will also highlight some of the lesser explored directions and challenges in LAM research.
|
17541983 |
2008 |
|
Lymphangioleiomyomatosis
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
A TSC2 loss or mutation leads to disruption of the tuberin-hamartin heteromer and dysregulation of S6K1 activation leading to aberrant cell proliferation seen in LAM disease.
|
18408969 |
2008 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Angiomyolipoma and LAM are caused by loss of function of either the tuberous sclerosis-1 or -2 genes resulting in activation of p70S6kinase (S6K1) and uncontrolled cellular proliferation.
|
18988705 |
2009 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Failure in the regulation of mTOR (mammalian target of rapamycin) appears to be critical to the pathogenesis of the inherited disorder tuberous sclerosis and the related lung disease LAM (lymphangioleiomyomatosis).
|
19143643 |
2009 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
We conclude that TSC1/TSC2 deficiency leads to MMP-2 overproduction that is rapamycin-insensitive, and that several genes exhibit similar patterns, suggesting that TSC1/TSC2-dependent, but mammalian target of rapamycin-independent, pathways may be involved in the pathogenesis of LAM.
|
19395678 |
2010 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
These findings suggest a higher rate of LAM in TSC1 than previously recognised, as well as a fundamental difference in CT presentation between TSC1 and TSC2.
|
19419980 |
2009 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
No patients with S-LAM with TSC1 LOH were identified, suggesting that TSC2 abnormalities are responsible for the vast majority of S-LAM cases and that TSC1-disease may be subclinical.
|
20639436 |
2010 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The TSC1/TSC2 protein-related signaling pathways are involved in the pathogenesis and may provide novel therapeutic targets for lymphangioleiomyomatosis and diseases associated with TSC1 / TSC2 dysfunction.
|
21128782 |
2010 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In HBV-D treated patients the dominant resistance mutation was rtL80V (31.4%) and rtM204I (60%) in LAM+ADV group while LAM-treated patients showed a preference of rtM204V (51.9%).
|
23026293 |
2012 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Progressive lung tissue destruction in lymphangioleiomyomatosis (LAM) occurs as a result of excessive proliferation of LAM cells caused by a mutation in one of the tuberous sclerosis complex suppressor genes, TSC1 or TSC2.
|
23690211 |
2013 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that these cellular mechanisms of OPG may be involved in the growth and proliferation of lymphangioleiomyomatosis (LAM) cells, abnormal smooth muscle-like cells with mutations in one of the tuberous sclerosis complex tumor-suppressor genes (TSC1/TSC2) that cause LAM, a multisystem disease characterized by cystic lung destruction, lymphatic infiltration, and abdominal tumors.
|
23867796 |
2013 |