|
neurofibroma
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
neurofibroma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
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 |
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 |
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
|
25370043 |
2015 |
|
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 |
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 |
Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene.
|
7550323 |
1995 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |