|
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 |
GeneticVariation
|
disease |
BEFREE |
LAM is caused by inactivating mutations in the tuberous sclerosis complex (TSC) genes, resulting in hyperactivation of mechanistic/mammalian target of rapamycin complex 1 (mTORC1).
|
29171770 |
2018 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
LAM occurs sporadically or in patients with tuberous sclerosis complex (TSC) and is etiologically linked to mutations in the TSC1 and TSC2 genes.
|
24570392 |
2014 |
|
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 |
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 |
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 |
Mutations in tuberous sclerosis (TSC) genes cause the genetic disorder TSC, as well as other neoplasms, including lymphangioleiomyomatosis (LAM) and angiomyolipomas (AMLs).
|
25476905 |
2014 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, recent data confirm the potential of next-generation sequencing to detect low-prevalence mutations in tuberous sclerosis (TSC) genes in sporadic LAM.
|
29927757 |
2018 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) are caused by inactivating mutations in TSC1 or TSC2, leading to mTORC1 hyperactivation.
|
30816188 |
2019 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The detection of a homozygous deletion of TSC1 driving a predicted case of sporadic lymphangioleiomyomatosis, consistent with the common two-hit TSC2 mutation model, has never been reported for sporadic lymphangioleiomyomatosis.
|
28643793 |
2017 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
AML and LAM are etiologically linked to mutations in the tsc2 and tsc1 genes in the case of LAM.
|
27289491 |
2016 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer.
|
29669930 |
2018 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
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 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The mammalian/mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway is hyperactivated in a variety of cancers and disorders, including lymphangioleiomyomatosis (LAM) and tuberous sclerosis complex (TSC), which are characterized by mutations in tumor suppressors TSC1 or TSC2.
|
24304514 |
2014 |
|
Lymphangioleiomyomatosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results illuminate the basis for lymphangioleiomyomatosis growth and demonstrate the therapeutic potential of targeting Syk in this and other settings driven by TSC genetic mutation.<i></i>.
|
28202529 |
2017 |
|
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 |
|
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 |
LAM is caused by mutations in the tuberous sclerosis complex (TSC) genes.
|
25780943 |
2015 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Lymphangioleiomyomatosis (LAM), a destructive lung disease that affects primarily women, is caused by loss-of-function mutations in TSC1 or TSC2, leading to hyperactivation of mechanistic/mammalian target of rapamycin complex 1 (mTORC1).
|
31299246 |
2019 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Pulmonary lymphangioleiomyomatosis (LAM) is a slow-progressing metastatic disease that is driven by mutations in the tumor suppressor tuberous sclerosis complex 1/2 (TSC1/2).
|
30095976 |
2018 |
|
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 |
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 |