|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of vestibular schwannoma tissue revealed loss of the ring chromosome 22 and a somatic second hit in the NF2 gene on the remaining chromosome 22.
|
19772601 |
2009 |
|
Acoustic Neuroma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Protein extracts from VS or rat sciatic nerve (proximal or distal to a crush injury) were isolated into lipid raft and nonraft fractions and immunoblotted for erbB2, phosphorylated erbB2, and merlin (for sciatic nerve).
|
18199961 |
2008 |
|
Acoustic Neuroma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical detection of schwannomin and neurofibromin in vestibular schwannomas, ependymomas and meningiomas.
|
9100669 |
1997 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Because there have been only a few studies of the NF2 gene on central nervous system tumors other than vestibular schwannomas, we investigated the potential role of NF2 as a tumor suppressor gene in a group of sporadic meningiomas and astrocytomas.
|
8559307 |
1995 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis 2 is caused by inactivating mutations of the NF2 gene, and is characterized by the development of nervous system tumours (mainly bilateral vestibular schwannomas), ocular abnormalities, and skin tumours.
|
16857415 |
2006 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Polymerase chain reaction-single strand chain polymorphism was used to screen for germline NF-2 gene mutations in six families with unilateral vestibular schwannoma.
|
9674507 |
1998 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Previous research has shown that although NF2 gene mutation is the major cause of vestibular schwannoma (VS), it may not directly participate in cystic VS (CVS).
|
30953268 |
2019 |
|
Acoustic Neuroma
|
0.400 |
Biomarker
|
disease |
BEFREE |
In addition, the interactions of merlin, the protein product of the NF2 gene, and other cellular proteins are beginning to give us a better idea of NF2 function and the pathogenesis of vestibular schwannomas.
|
16436990 |
2006 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Familial unilateral vestibular schwannoma is rarely caused by inherited variants in the NF2 gene.
|
30325044 |
2019 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The great majority of sporadic vestibular schwannomas (VSs) are due to the inactivation of the NF2 gene.
|
28710469 |
2017 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
NF2 genetic alterations in sporadic vestibular schwannomas: clinical implications.
|
23921927 |
2013 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We performed a mutational analysis in 30 vestibular schwannomas and examined the effect of mutations on the NF2 protein.
|
7951231 |
1994 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have performed DNA sequence and dosage analysis of the NF2 gene in a panel of 239 schwannoma tumours: 97 neurofibromatosis type 2 (NF2)-related schwannomas, 104 sporadic vestibular schwannomas (VS) and 38 schwannomatosis-related schwannomas.
|
20729918 |
2010 |
|
Acoustic Neuroma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Chromosome 22q carries the locus of a tumor suppressor gene, the neurofibromatosis 2 (NF2) gene, which has been shown to be lost or mutated in some NF2-related tumors, sporadic meningiomas, and vestibular schwannomas, as well as a few other tumors.
|
9635681 |
1998 |
|
Acoustic Neuroma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Activation of merlin and its role in cell signaling seem as key aspects of vestibular schwannoma biology.
|
26049313 |
2015 |
|
Acoustic Neuroma
|
0.400 |
Biomarker
|
disease |
BEFREE |
The present three children had (1) small (<1 cm), bilateral vestibular schwannomas (VSs) detected (as an incidental finding) at magnetic resonance imaging (MRI) by the age of 4 to 5 months that were asymptomatic for 10 to 14 years, with sudden and rapid (<12 months) progression in two cases at the age of 11 and 15 years, respectively; (2) development of large numbers of skin NF2 plaques mainly in atypical locations (i.e. face, hands, legs and knees), which reverted to normal skin appearance at the time of VSs progression; (3) lens opacities (n = 1) and NF2 retinal changes (n = 2) detected as early as age of 3-4 months; (4) diffuse (asymptomatic) high signal lesions at brain MRI in the periventricular regions (alike cortical dysplasia); and (5) unaffected first-degree relatives who did not harbour NF2 gene abnormalities.
|
23377185 |
2013 |
|
Acoustic Neuroma
|
0.400 |
Biomarker
|
disease |
BEFREE |
We found that merlin appeared in 98% of the VS tissue samples, with a mean cellular positivity of 46.66 +/- 5.75%.
|
17989580 |
2008 |
|
Acoustic Neuroma
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Importantly, high level amplifications have been observed on 16p and 16q as well as on 9q, suggesting the possible involvement of several oncogenes in the tumorigenesis of VS. Our data suggest the involvement of various oncogenes and tumor suppressor genes might play a role in the genesis of the vestibular schwannomas apart from the inactivation of the NF2 gene.
|
20872275 |
2011 |
|
Acoustic Neuroma
|
0.400 |
Biomarker
|
disease |
LHGDN |
What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?
|
18173316 |
2008 |
|
Acoustic Neuroma
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |