|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
LAM is caused by mutations in the tuberous sclerosis complex (TSC) genes.
|
25780943 |
2015 |
|
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 |
Biomarker
|
disease |
BEFREE |
Lymphangioleiomyomatosis (LAM), a rare disease of women, is associated with cystic lung destruction resulting from the proliferation of abnormal smooth muscle-like LAM cells with mutations in the tuberous sclerosis complex (TSC) genes <i>TSC1</i> and/or <i>TSC2</i> The mutant genes and encoded proteins are responsible for activation of the mechanistic target of rapamycin (mTOR), which is inhibited by sirolimus (rapamycin), a drug used to treat LAM.
|
29339522 |
2018 |
|
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 |
TSC1/2 mutations also occur in other neoplastic disorders, including lymphangioleiomyomatosis (LAM) and bladder cancer.
|
29669930 |
2018 |
|
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 |
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 |
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 |
Collectively, the results of this study reveal novel LAM biomarkers linked to breast cancer metastasis to lung and to cell stemness, which in turn might guide the assessment of additional or complementary therapeutic opportunities for LAM.
|
26167915 |
2015 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Endostatin levels were associated with DLCO and were higher in subjects with TSC-associated LAM compared to sporadic LAM.
|
30922357 |
2019 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Loss of Tsc1 in fibroblasts in mice does not lead to a model of angiomyolipoma or lymphangioleiomyomatosis.
|
27907099 |
2016 |
|
Lymphangioleiomyomatosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Moreover, rapamycin-enhanced migration of TSC2-null cells was inhibited by the uPA inhibitor UK122, dexamethasone, and a FOXO inhibitor. uPA-knock-out mice developed fewer and smaller TSC2-null lung tumors, and introduction of uPA shRNA in tumor cells or amiloride-induced uPA inhibition reduced tumorigenesis <i>in vivo</i> These findings suggest that interference with the uPA-dependent pathway, when used along with rapamycin, might attenuate LAM progression and potentially other TSC-related disorders.
|
28972182 |
2017 |
|
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 |
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 |