|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Thus, atypical deletions partially overlapping with the common 1.4 Mb microdeletion interval could prove useful in identifying possible genetic modifiers in the NF1 gene region whose haploinsufficiency might promote neurofibroma growth.
|
18265407 |
2008 |
|
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 |
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 |
In the present study, we used the polymerase chain reaction (PCR) and DNA sequencing analysis to characterize the NF1 gene in a 53-year-old Japanese patient with NF1 who suffered from neurofibroma, pheochromocytoma, and gastrointestinal stromal tumor (GIST).
|
16741618 |
2006 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Duplicon-mediated microdeletions around the NF1 gene are frequently associated with a severe form of neurofibromatosis type I in a subgroup of patients who show an earlier onset of cutaneous neurofibromas, dysmorphic facial features, and lower IQ values.
|
12696059 |
2003 |
|
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 |
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 |
Solitary neurofibromas in "clinically" non-NF1 patients may originate from the genomic changes in NF1 gene.
|
24140765 |
2014 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
|
17160901 |
2007 |
|
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 |
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 |
LOH spanning the NF1 gene region was evident in 25 neurofibromas, but in contrast to previous data from MPNSTs, it was absent at the TP53, CDKN2A and RB1 gene loci.
|
22108604 |
2012 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.
|
27622733 |
2017 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Loss of NF1 is an oncogenic driver.In efforts to define pathways responsible for the development of neurofibromas and other cancers, transcriptomic and proteomic changes are evaluated in a non-malignant NF1 null cell line.
|
30908848 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
|
25370043 |
2015 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Genes controlling the integrity of the DNA are likely to influence the number of neurofibromas developed because dNFs are caused by somatic mutational inactivation of the NF1 gene, frequently evidenced by loss of heterozygosity (LOH).
|
21031597 |
2011 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromas, which are benign Schwann cell tumors, are the hallmark feature in the autosomal dominant condition neurofibromatosis 1 (NF1) and are associated with biallelic loss of NF1 gene function.
|
27617404 |
2016 |
|
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 |
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 |
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 |