NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Plexiform Neurofibroma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE In Neurofibromatosis type 1, NF1 gene mutations in Schwann cells (SC) drive benign plexiform neurofibroma (PNF), and no additional SC changes explain patient-to-patient variability in tumor number. 31664505 2020
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 Biomarker disease BEFREE To better understand the non-NF1 genetic contributions to PN pathogenesis, we performed whole-exome sequencing, RNASeq profiling and genome-wide copy-number determination for 23 low-passage Schwann cell cultures established from surgical PN material with matching germline DNA. 28068329 2017
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE Biallelic inactivation of the NF1 gene was observed in the plexiform neurofibroma and the MPNSTs, underlining that somatic biallelic NF1 inactivation is likely to be the initiating event for plexiform neurofibroma genesis, although it is unlikely to be sufficient for the subsequent MPNST development. 28124441 2017
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE Malignant peripheral nerve sheath tumors (MPNSTs) are Schwann cell-derived malignancies that arise from plexiform neurofibromas in patients with mutation of the neurofibromin 1 (NF1) gene. 24232507 2014
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 Biomarker disease BEFREE We found that the anti-apoptotic Bcl-xL protein is upregulated in MPNST tissues compared to PN tissues from patients with NF1 by immunohistological staining. 23292448 2013
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 Biomarker 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
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 Biomarker disease BEFREE A role for the NF1 gene in solitary plexiform neurofibromas has never been described. 22585738 2012
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 Biomarker disease BEFREE Here, we discuss the importance of Nf1 gene dosage, delineate hematopoietic contributions to the plexiform neurofibroma microenvironment, and highlight applications to human treatment. 20571392 2010
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE Determination of NF1 gene copy number by multiplex ligation-dependent probe amplification indicated that although tumors with smaller regions of LOH were characterized by 17q deletions, no NF1 gene copy number changes were detected in six plexiform neurofibromas with more extensive LOH. 18800150 2009
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE Germline and somatic NF1 gene mutations in plexiform neurofibromas. 18484666 2008
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE We have carried out NF1 gene mutation analysis on DNA isolated from 25 tumours (dermal and plexiform neurofibromas, malignant peripheral nerve sheath tumour, MPNST), obtained at post-mortem from an NF1 patient. 17551851 2007
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 Biomarker disease BEFREE We have previously observed activation of the Hh signalling pathway in Schwann cells of plexiform neurofibroma in neurofibromatosis type 1 (NF1), which results from functional loss of the NF1 encoding protein, neurofibromin. 16536802 2006
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE Our objective was to establish magnetic resonance imaging (MRI) criteria for MPNST, and to test their usefulness in detecting early malignant changes in PNF and to correlate the findings with the mutations of the NF1 gene. 16033085 2005
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE This finding suggests that loss of the second allele, and thus inactivation of both alleles of the NF1 gene, is associated with the development of plexiform neurofibromas. 10459349 1999
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease BEFREE We report a young child with a large congenital cervical plexiform neurofibroma and multiple café-aul-ait spots in a generalized distribution who has mosaicism for complete deletion of the NF1 gene. 9048923 1997
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 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
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 GeneticVariation disease CLINVAR
CUI: C0206728
Disease: Plexiform Neurofibroma
Plexiform Neurofibroma 		0.200 CausalMutation disease CLINVAR