|
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 |
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 |
LHGDN |
NF1 mutations and clinical spectrum in patients with spinal neurofibromas.
|
12746402 |
2003 |
|
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 |
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 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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
|
25370043 |
2015 |