|
neurofibroma
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
neurofibroma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
neurofibroma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain.
|
1280127 |
1992 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Defects in the NF1 gene have been implicated in the inherited disorder neurofibromatosis type 1, which is characterized by several developmental abnormalities including an increased frequency of benign and malignant tumours of neural crest origin (neurofibromas and neurofibrosarcomas respectively).
|
1570015 |
1992 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.
|
7550323 |
1995 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The surprisingly high frequency of microsatellite alterations suggests that the NF1 gene or another gene(s) contributing to the pathogenesis of neurofibromas might be directly or indirectly implicated in the control of genomic integrity.
|
7585653 |
1995 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Western blot analysis demonstrated deficiency of neurofibromin in the tumours derived from three out of the four neurofibromatosis type 1 patients: a fibrolipoma, a malignant schwannoma and a neurofibroma.
|
7614817 |
1995 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data indicate that the NF1 gene may function as a tumour suppressor gene, and that, either by effect of dose reduction or complete inactivation, both the NF1 gene and the TP53 gene may be critical for the progression of a neurofibroma to a malignant schwannoma.
|
8351250 |
1993 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Single-cell PCR performed with neurofibroma Schwann cells reveals the presence of both alleles of the neurofibromatosis type 1 (NF1) gene.
|
8530015 |
1995 |
|
neurofibroma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The molecular basis of neurofibroma development in NF1 is loss of expression of the NF1 gene and its gene product, neurofibromin, resulting in elevated levels of Ras-guanosine triphosphate.
|
8622163 |
1996 |
|
neurofibroma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
To explain the observation that transgenic mice expressing the human T-lymphotropic virus type 1 (HTLV-1) tax gene under the control of the viral regulatory element also develop multiple neurofibromas, we demonstrate that the Tax trans-regulator can functionally repress NF1 gene expression through a cis-acting element located immediately upstream of its transcriptional start site, thereby allowing the development of benign neurofibromas without the need for direct mutations in NF1.
|
8627811 |
1996 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clonal origin of tumor cells in a plexiform neurofibroma with LOH in NF1 intron 38 and in dermal neurofibromas without LOH of the NF1 gene.
|
9177273 |
1997 |
|
neurofibroma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Therefore, the recent reports mentioned above, together with our findings, strongly support the double inactivation of the NF1 gene in benign neurofibromas.
|
9326316 |
1997 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two tumor types that have been linked to specific gene alterations are schwannomas, which have mutations in the neurofibromatosis (NF) type 2 (NF2) gene, and neurofibromas, which characteristically possess NF type 1 (NF1) gene mutations.
|
9354454 |
1997 |
|
neurofibroma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
EVI2B, a gene lying in an intron of the neurofibromatosis type 1 (NF1) gene, is as the NF1 gene involved in differentiation of melanocytes and keratinocytes and is overexpressed in cells derived from NF1 neurofibromas.
|
10360836 |
1999 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This result suggests that genetic alterations of the NF1 gene in Schwann cells are responsible for the development of neurofibromas.
|
10451710 |
1999 |
|
neurofibroma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that small subtle mutations occur with similar frequency to that of LOH in benign neurofibromas and that somatic inactivation of the NF1 gene is a general event in these tumors.
|
10677298 |
2000 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, since all other CpG sites were unmethylated in all tissues examined, it is unlikely that CpG hypermethylation within the NF1 promoter represents a common mutational mechanism leading to neurofibroma formation.
|
10982032 |
2000 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent evidence demonstrates that somatic mutations at the NF1 gene are found in neurofibromas, but it has not been demonstrated whether SCs, fibroblasts and/or both cell types bear a somatic loss of NF1.
|
11115850 |
2000 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since the NF1 gene is supposed to be a tumour suppressor gene, these neurofibromas should develop upon inactivation of both NF1 alleles.
|
11175282 |
2000 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Somatic point mutations or the presence of "two hits" in the NF1 gene have only been reported for a few neurofibromas.
|
11409870 |
2001 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A total loss of the NF1 gene product by stochastic events inactivating the wild type allele in Schwann cells should precede the development of neurofibromas.
|
11701400 |
2001 |
|
neurofibroma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Neurofibromin was not expressed in Schwann cells and sustentacular cells of composite pheochromocytomas and was very weakly or negatively expressed in neurofibroma of NF1 patients.
|
11904334 |
2002 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe here a patient with segmental NF in which we could not demonstrate any NF1 gene mutation in fibroblasts cultured from neurofibromas by use of the protein truncation test, enzymatic mutation detection and fluorescence in situ hybridisation.
|
12077526 |
2002 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Deletion of both copies of the Nf1 gene in Schwann cells combined with Nf1 heterozygosity in the tumor environment promotes neurofibroma formation in mice.
|
12124168 |
2002 |