Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Loss of function mutations in the neurofibromatosis Type 2 (NF2) gene, coding for a tumour suppressor, Merlin, cause multiple tumours of the nervous system such as schwannomas, meningiomas and ependymomas.
|
28692055 |
2017 |
Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
In all schwannomas, the majority of meningiomas and 1/3 of ependymomas Merlin loss is causative.
|
26549023 |
2016 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of the tumour suppressor merlin leads to the development of schwannomas, meningiomas and ependymomas occurring spontaneously or as a part of the hereditary disease Neurofibromatosis type 2 (NF2).
|
25217104 |
2015 |
Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene coding for a tumour suppressor merlin cause development of multiple tumours of the nervous system such as schwannomas, meningiomas and ependymomas occurring spontaneously or as part of a hereditary disease neurofibromatosis type 2.
|
23318455 |
2014 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cerebral and spinal cord tanycytic ependymomas in a young adult with a mutation in the NF2 gene.
|
24612193 |
2014 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We propose that sporadic intramedullary ependymomas should also be analyzed for this region of NF2 gene.
|
24357459 |
2014 |
Ependymoma
|
0.200 |
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 |
Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Loss of the tumor suppressor merlin causes development of the tumors of the nervous system, such as schwannomas, meningiomas, and ependymomas occurring spontaneously or as part of a hereditary disease Neurofibromatosis Type 2 (NF2).
|
22821509 |
2012 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Defects caused by mutations of the NF2 gene give rise to NF2 disease, which is generally characterized by the formation of bilateral vestibular schwannomas and, to a lesser extent, meningiomas and ependymomas.
|
22912849 |
2012 |
Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Deficiency of the tumor suppressor protein merlin leads to the development of benign tumors of the nervous system such as schwannomas, ependymomas and meningiomas.
|
21647202 |
2011 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic alterations of neurofibromatosis type 2 (NF2) gene lead to the development of schwannomas, meningiomas, and ependymomas.
|
20491622 |
2010 |
Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Additionally, frozen tissue from nine ependymomas (four intracranial and five spinal) was obtained for Western blot analysis for merlin, 4.1B and 4.1R expression.
|
15731777 |
2005 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the NF2 gene in oligodendrogliomas and ependymomas.
|
11996787 |
2002 |
Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
All 5 merlin losses by IHC occurred in spinal ependymomas (P =.047), whereas 5 (71%) DAL-1-negative cases were intracranial (P =.185).
|
12011257 |
2002 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A tumor-suppressor gene, independent of the NF2 gene, which seems to be exclusively involved in intramedullary spinal cord ependymomas, might be implicated in the genesis of these intracranial tumors.
|
11063814 |
2000 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
From an earlier study in a family in which four cousins developed an ependymoma, we concluded that an ependymoma-susceptibility gene, which is not the NF2 gene in 22q12, might be located on chromosome 22.
|
10584875 |
1999 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that a considerable fraction of spinal ependymomas are associated with molecular events involving chromosome 22 and that mutations in the NF2 gene may be of primary importance for their genesis.
|
10433955 |
1999 |
Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Complete lack of schwannomin in these tumors supports a tumor suppressor function for schwannomin in some meningiomas and ependymomas.
|
9100669 |
1997 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the neurofibromatosis 2 (NF2) gene are the predominant cause in the development of sporadic schwannomas and are also involved in the pathogenesis of meningiomas and ependymomas.
|
8700556 |
1996 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Reverse transcription-polymerase chain reaction followed by agarose gel electrophoresis, single strand conformation polymorphism analysis, and automated deoxyribonucleic acid sequence analysis were used to screen for mutations in the NF2 gene transcript in seven unrelated patients with sporadic intramedullary spinal cord ependymomas.
|
8805149 |
1996 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The NF2 gene, recently isolated from chromosome 22, is mutated in both sporadic and NF2 tumors such as schwannomas, meningiomas and ependymomas.
|
8655145 |
1996 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, TP53 and NF2 gene mutations do not play an important role in the etiology of sporadic pediatric ependymomas.
|
8889505 |
1996 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Exon scanning for mutations of the NF2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas.
|
7657387 |
1995 |
Ependymoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
These results suggest that the NF2 gene may be important in the formation of some ependymomas but the NF2 gene is probably not the critical chromosome 22q tumor suppressor gene involved in astrocytoma tumorigenesis.
|
8261460 |
1994 |
Ependymoma
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|