|
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 Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
|
30843352 |
2019 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.
|
27622733 |
2017 |
|
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 |
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 |
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 |
Solitary neurofibromas in "clinically" non-NF1 patients may originate from the genomic changes in NF1 gene.
|
24140765 |
2014 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |