|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis Type I (NF1) is caused by variants in neurofibromin (<i>NF1</i>).
|
31121919 |
2019 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by a mutation on chromosome 17 of the gene for neurofibromin.
|
31352017 |
2019 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The current review summarizes recent advances on three important issues in neurofibromatosis type 1 (NF1) management: the identification of specific NF1 gene mutations predicting the risk for developing neurological malignancies; the molecular features of NF1-associated tumors and their differences from sporadic neoplasms; genetic, epigenetic, or microenviromental factors leading benign tumors to a malignant transformation in NF1.
|
31436563 |
2019 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we investigated the clinical characteristics and NF1 gene mutation analysis of 3 unrelated Indian families with neurofibromatosis type 1.
|
29680440 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by NF1 gene mutation, and clinically characterized by multiple cutaneous neurofibromas and café-au-lait spots.
|
29079545 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.
|
29449315 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Analysis of benign and malignant tumors commonly associated with NF1 patients, as well as those with high NF1 gene mutation frequency, reveals an antagonistic role for NF1 heterozygosity in tumor initiation and malignant transformation and helps to reconciliate the role of the NF1 gene in both NF1 and non-NF1 patient contexts.
|
30479396 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As such, individuals with NF1 are born with a germline mutation in the NF1 gene, but may develop numerous distinct neurological problems, ranging from autism and attention deficit to brain and peripheral nerve sheath tumors.
|
28392281 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis Type 1 (NF1) is caused by mutations of the NF1 gene.
|
30308447 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
The purpose of the present study was to examine the association between retinal nerve fiber layer (RNFL) thickness measured using OCT and optic nerve function in children with OPG with and without neurofibromatosis-1 (NF-1).
|
30619059 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have suggested that children with neurofibromatosis type 1 are shorter than their unaffected counterparts as an effect of a germline NF1 gene mutation.
|
30009646 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
NF1 occurs due to the mutations in the NF1 gene.
|
29455242 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene.
|
28448720 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is caused, in 4.7-11% of cases, by large deletions encompassing the NF1 gene and its flanking regions within 17q11.2.
|
29730711 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
|
29290338 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
These data demonstrate that neurofibromin haploinsufficiency impairs spermatogenesis and fertility in a mouse model of NF1.
|
30571760 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our study shows that recombinant neurofibromin is able to revert cellular effects of NF1 haploinsuffiency in vitro, indicating a use of protein transduction into cells as a potential treatment strategy for the monogenic disease NF1.
|
29670214 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 (NF1) is monogenic neurodevelopmental disorder caused by mutation of NF1 gene, which leads to increased susceptibility to various tumors formations.
|
30447756 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The hallmark of NF1 and NF1-related MPNST is the loss of neurofibromin expression.
|
28859862 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A recent genome-wide analysis has shown frequent NF1 gene alterations in the mesenchymal subtype of a glioblastoma; however, little is known about clinicopathological features of glioblastomas in NF1 patients (NF1 glioblastomas).We analyzed four NF1 glioblastomas.
|
29138945 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type 1 is a disease caused by mutation of neurofibromin 1 (<i>NF1</i>), loss of which results in hyperactive Ras signaling and a concomitant increase in cell proliferation and survival.
|
29662612 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
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 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additionally, the Multiplex Ligation-dependent Probe Amplification (MLPA) test of the NF1 gene and SPRED1 gene analysis (sequencing and MLPA test) was performed in some of the negative patients for NF1 point mutations.
|
30014477 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Neurofibromatosis type I (NF1) is caused by heterozygous loss-of-function variants in the NF1 gene encoding neurofibromin which serves as a tumor suppressor that inhibits RAS signaling and regulates cell proliferation and differentiation.
|
30274822 |
2018 |
|
Neurofibromatosis 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
We created mutant cDNAs representing NF1 patient variants with different clinically relevant phenotypes, and assessed their ability to produce mature neurofibromin and restore Nf1 activity in NF1<sup>-/-</sup> cells.
|
29522274 |
2018 |