|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Loss of its protein, neurofibromin, in the autosomal dominant disorder NF1 is associated with peripheral nervous system tumors, particularly neurofibromas, benign lesions in which the major cell type is the Schwann Cell (SC).
|
18481270 |
2008 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.
|
27622733 |
2017 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas.
|
22241097 |
2012 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
|
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 |
Biomarker
|
disease |
BEFREE |
Our findings suggest that, although clonal loss of neurofibromin function is probably involved in the development of some NF1-associated neurofibromas, other pathogenic processes also occur.
|
21674567 |
2011 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our patient's neurofibromas were secondary to a postzygotic mutation in the NF-1 gene of neural crest-derived cells.
|
15868313 |
2006 |
|
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 |
Biomarker
|
disease |
CTD_human |
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.
|
25119042 |
2014 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Solitary neurofibromas in "clinically" non-NF1 patients may originate from the genomic changes in NF1 gene.
|
24140765 |
2014 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Somatic inactivation of the Nf1 tumor suppressor gene, which encodes neurofibromin, is necessary but not sufficient to initiate neurofibroma development.
|
16648142 |
2006 |
|
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 |
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 |
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
|
30843352 |
2019 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The analysis of somatic NF1 gene mutations in neurofibromas from NF1 patients revealed that each neurofibroma results from an individual second hit mutation, indicating that factors that influence somatic mutation rates may be regarded as potential modifiers of NF1.
|
14635100 |
2003 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The bi-allelic inactivation of the NF1 gene through a "second hit" seems to be of crucial importance to the development of certain manifestations, such as neurofibromas, café-au-lait macules, and glomus tumors.
|
21457932 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The second hit in the NF1 gene of Schwann cells is considered to be the initial step in the development of neurofibromas.
|
29185159 |
2018 |
|
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 |
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 |
These models have been designed to address key questions including: (1) whether NF1 loss in the Schwann cell lineage is essential for tumorigenesis; (2) what cell type(s) in the Schwann cell lineage gives rise to dermal neurofibromas, plexiform neurofibromas and MPNSTs; (3) how the tumor microenvironment contributes to neoplasia; (4) what additional mutations contribute to neurofibroma-MPNST progression; (5) what role different neurofibromin-regulated Ras proteins play in this process and (6) how dysregulated growth factor signaling facilitates PNS tumorigenesis.
|
21855613 |
2012 |
|
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 |