|
Neurofibromatoses
|
1.000 |
Biomarker
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
|
30843352 |
2019 |
|
Neurofibromatoses
|
1.000 |
Biomarker
|
group |
MGD |
Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1.
|
30571760 |
2018 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
AlteredExpression
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas.
|
27622733 |
2017 |
|
Neurofibromatoses
|
1.000 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Our result expands the mutational spectrum of the NF1 gene associated with neurofibromatosis type1.
|
27980226 |
2017 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
This study suggests that inactivating NF1 mutations outside the context of neurofibromatosis may be the oncogenic mechanism for a subset of sporadic GIST.
|
26555092 |
2015 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
|
25370043 |
2015 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Neurofibromatosis type 1 (NF1) caused by NF1 gene mutation is a commonly inherited autosomal dominant disorder.
|
25109740 |
2014 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
To our knowledge, this is the first patient with spinal neurofibromatosis in the context of classical NF1 with an NF1 gene mutation.
|
23954459 |
2014 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Solitary neurofibromas in "clinically" non-NF1 patients may originate from the genomic changes in NF1 gene.
|
24140765 |
2014 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
Our results present the clustering of mutations in the 5'tertile of NF1 gene in patients with optic nerve glioma and suggest higher incidence of freckling and neurofibromatosis brain objects in these patients.
|
23906300 |
2013 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
Biomarker
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
BEFREE |
We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis familial case where a 40-year-old woman, presenting with multiple bilateral spinal neurofibromas and no other clinical feature of neurofibromatosis type 1 (NF1), inherited a paternal large multiexonic deletion (c.5944-?_7126+?del) which resulted in NF1 gene haploinsufficiency at the RNA level.
|
21365283 |
2011 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
GeneticVariation
|
group |
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 |
|
Neurofibromatoses
|
1.000 |
Biomarker
|
group |
CTD_human |
ALTERED CALCIUM CURRENTS AND AXONAL GROWTH IN Nf1 HAPLOINSUFFICIENT MICE.
|
21949590 |
2010 |
|
Neurofibromatoses
|
1.000 |
Biomarker
|
group |
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 |