|
Neurilemmoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NF2 gene mutations have been identified in the majority of sporadic and NF2-associated schwannomas and NF2 gene mutations have been shown to result in merlin protein phosphorylation.
|
31789805 |
2020 |
|
Neurilemmoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of a schwannoma and matched blood samples demonstrated a constitutional de novo substitution at the splice donor site of intron 8 of the NF2 gene and aa acquired large deletion of the entire NF2 gene as a second hit, with some loss of SMARCB1.
|
29761250 |
2019 |
|
Neurilemmoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Because merlin modulates activity of the Ras/Raf/mitogen-activated protein kinase kinase (MEK)/extracellular signal-regulated kinase (ERK) pathway, we investigated repurposing drugs targeting MEK1 and/or MEK2 as a treatment for NF2-associated schwannomas.
|
30615146 |
2019 |
|
Neurilemmoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We further demonstrated a difference in the sensitivity to Nutlin-3 between schwannoma cells with and without merlin expression.
|
30274821 |
2018 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The absence of the protein NF2/Merlin causes an uninterrupted cell proliferation cascade originating from an abnormal interaction between an extracellular mucopolysaccharide, hyaluronan (HA), and schwann cell surface CD44 receptor, which has been identified as one of the central causative factors for schwannoma.
|
30145722 |
2018 |
|
Neurilemmoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We show for the first time that Schwann cells derived from skin plaque plexiform schwannomas bear the double inactivation of the NF2 gene and thus constitute an excellent source of tissue for genetic testing, especially in the context of mosaicism.
|
29322178 |
2018 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
SPSs express a pattern of biomarkers consistent with the dysregulation of the tumor suppressor merlin observed in neurofibromatosis Type 2-associated schwannomas, suggesting a shared etiology.
|
28885122 |
2018 |
|
Neurilemmoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The genetic alterations observed in the NF2 gene indicated that spinal schwannomas are associated with genetic alterations also found in other schwannomas and type 2 Neurofibromatosis, which reinforces the etiological role of this gene.
|
29599333 |
2018 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We identified over 2000 proteins in comparative experiments between Merlin-deficient schwannoma and meningioma compared to human Schwann and meningeal cells respectively.
|
28126595 |
2017 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Understanding the viral etiology - molecular merlin interactions in schwannoma tissues may also help to develop strategies against delayed fascial palsy seen following schwannoma resection.
|
28478817 |
2017 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Combination Therapy with c-Met and Src Inhibitors Induces Caspase-Dependent Apoptosis of Merlin-Deficient Schwann Cells and Suppresses Growth of Schwannoma Cells.
|
28775147 |
2017 |
|
Neurilemmoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By inducing Smarcb1 loss at later developmental stage in the Schwann cell lineage, in addition to biallelic Nf2 gene inactivation, we generated the first mouse model developing schwannomas with the same underlying gene mutations found in schwannomatosis patients.
|
28824165 |
2017 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We suggest that PrP<sup>C</sup> and its interactor, LR/37/67 kDa, could be potential therapeutic targets for schwannomas and other Merlin-deficient tumours.
|
28692055 |
2017 |
|
Neurilemmoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutational inactivation of the <i>NF2</i> gene encoding the protein Merlin is found in most sporadic and inherited schwannomas, but the molecular mechanisms underlying neoplastic changes in schwannoma cells remain unclear.
|
28729415 |
2017 |
|
Neurilemmoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly NF2 mutations and merlin inactivation also occur in spontaneous schwannomas and meningiomas, as well as other types of cancer including mesothelioma, glioma multiforme, breast, colorectal, skin, clear cell renal cell carcinoma, hepatic and prostate cancer.
|
25893302 |
2016 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
To date, only merlin has been identified as a hallmark or pathogenesis of both sporadic and NF2-related schwannomas.
|
24964769 |
2015 |
|
Neurilemmoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, SMARCB1-associated schwannomas follow a four-hit, three-step model, in which both alleles of SMARCB1 and NF2 genes are inactivated in the tumor, with one of the steps being always the loss of a big part of chromosome 22 involving both loci.
|
25739810 |
2015 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
We suggest that Nutlin-3, possibly in combination with FAK or PI3K inhibitors, can be employed as a novel treatment for schwannoma and other merlin-deficient tumours.
|
25217104 |
2015 |
|
Neurilemmoma
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
The epigenetic signature of schwannomas remains poorly understood and is mostly limited to DNA methylation of the NF2 gene, whose altered expression due to epigenetic factors in this tumor is controversial.
|
25533176 |
2015 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Merlin has multiple functions, including within the nucleus and at the cell membrane, and this review summarizes our current understanding of the mechanisms by which merlin loss is involved in schwannoma pathogenesis, highlighting potential areas for therapeutic intervention.
|
24450866 |
2014 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Moreover, Axl positively regulates the oncogene Yes-associated protein, which is known to be under merlin regulation in schwannoma and is involved in increased proliferation of merlin-deficient meningioma and mesothelioma.
|
23318455 |
2014 |
|
Neurilemmoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the NF2 gene cause Neurofibromatosis Type 2 (NF2), a disorder characterized by the development of schwannomas, meningiomas and ependymomas in the nervous system.
|
24259290 |
2013 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, we propose that loss of the SOX10 protein, which is vital for normal Schwann cell development, is also key to the pathology of Merlin-null schwannoma tumours.
|
23413263 |
2013 |
|
Neurilemmoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The main cause for transformation of Schwann cells into schwannomas is credited to the inactivation of the neurofibromin 2 (NF2) gene and the consecutive loss of its protein merlin.
|
23666797 |
2013 |
|
Neurilemmoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Furthermore, the osteopontin gene (SPP1), which is involved in merlin protein degradation, was upregulated, which suggests that this mechanism may also exert a pivotal role in schwannoma merlin depletion.
|
23354516 |
2013 |