|
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 |
|
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 |
Biomarker
|
disease |
BEFREE |
Loss of neurofibromin, the protein product of the tumor suppressor gene neurofibromatosis type 1 (NF1), is associated with neurofibromas, composed largely of Schwann cells.
|
18213578 |
2008 |
|
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 |
We previously showed that knockdown of neurofibromin triggers epithelial-mesenchymal transition (EMT) signalling and that such signalling is activated in NF1-associated neurofibromas.
|
29666462 |
2018 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Fifty-four patients (30 male, 24 female, mean age 35.1 years) with neurofibromatosis-1 and suspected malignant transformation of a neurofibroma underwent <sup>18</sup>F-FDG PET/computed tomography (CT) scans at 101.5 ± 15.0 and 251.7 ± 18.4 min post-injection of 350 MBq <sup>18</sup>F-FDG to a standard clinical protocol.
|
28429332 |
2017 |
|
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 |
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 |
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 |
To the best of our knowledge, this represents the first demonstration of a somatic biallelic inactivation of the NF1 gene in neurofibroma, providing further evidence for the importance of NF1 inactivation also in sporadic neurofibromas.
|
15986446 |
2005 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature.
|
23780384 |
2013 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies revealed a combined loss of neurofibromin and merlin in both regions and chromosome arm 22q deletion within the neurofibroma component only.
|
17695403 |
2007 |
|
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 |
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 |
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 |
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 |
|
neurofibroma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
If we assume that dual-color FISH analysis is sensitive enough to detect the majority of large somatic deletions present, then other mutational mechanisms affecting the NF1 gene are probably involved in neurofibroma formation, and other tumor suppressor genes may play an important role in NF1 tumorigenesis.
|
15066327 |
2004 |
|
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 |
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 |
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 |
BEFREE |
Here, the known somatic mutational spectrum for the NF1 gene in a range of NF1-associated neoplasms - including peripheral nerve sheath tumours (neurofibromas), malignant peripheral nerve sheath tumours, gastrointestinal stromal tumours, gastric carcinoid, juvenile myelomonocytic leukaemia, glomus tumours, astrocytomas and phaeochromocytomas - have been collated and analysed.
|
22155606 |
2011 |
|
neurofibroma
|
0.500 |
Biomarker
|
disease |
BEFREE |
(2008) demonstrate that mast cells heterozygous for the Nf1 gene promote the growth of neurofibromas in a mouse model of neurofibromatosis and that genetic and pharmacological inhibition of these cells is sufficient to block tumor growth.
|
18984150 |
2008 |
|
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 |
Biomarker
|
disease |
CTD_human |
PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.
|
25119042 |
2014 |