Results 21 to 30 of about 22,402 (163)
Sensitivity of malignant peripheral nerve sheath tumor cells to TRAIL is augmented by loss of NF1 through modulation of MYC/MAD and is potentiated by curcumin through induction of ROS. [PDF]
PLoS ONE, 2013 Malignant peripheral nerve sheath tumor (MPNST) is a rare aggressive form of sarcoma often associated with the tumor syndrome neurofibromatosis type 1 (NF1).
David E Reuss +6 more
doaj +1 more source
The Contribution of Oxidative Stress to NF1-Altered Tumors
Antioxidants, 2023 The neurofibromatosis-1 gene (NF1) was initially characterized because its germline mutation is responsible for an inherited syndromic disease predisposing tumor development, in particular neurofibromas but also various malignancies.
Elisabetta Kuhn +6 more
doaj +1 more source
RAS and beyond: the many faces of the neurofibromatosis type 1 protein
Disease Models & Mechanisms, 2022 Neurofibromatosis type 1 is a rare neurogenetic syndrome, characterized by pigmentary abnormalities, learning and social deficits, and a predisposition for benign and malignant tumor formation caused by germline mutations in the NF1 gene.
Corina Anastasaki +2 more
doaj +1 more source
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
Molecular Therapy: Nucleic Acids, 2022 We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
André Leier +15 more
doaj +1 more source
, 2006 Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is ...
Wimmer, K, K Wimmer
core +1 more source
Scientific Reports, 2021 Neurofibromatosis Type 1 (NF1) is a genetic condition affecting approximately 1:3500 persons worldwide. The NF1 gene codes for neurofibromin protein, a GTPase activating protein (GAP) and a negative regulator of RAS.
Josep Biayna +11 more
doaj +1 more source
Neurofibromatosis type 1 gene product (neurofibromin) associates with microtubules [PDF]
, 1993 The neurofibromatosis type 1 (NF1) gene was recently identified by positional cloning and found to encode a protein with structural and functional homology to mammalian and yeast GTPase-activating proteins (GAPs).
Gregory, Paula E. +8 more
core +1 more source
Molecular Therapy: Nucleic Acids, 2023 Neurofibromatosis type 1 (NF1) results from germline mutations in the tumor-suppressor gene NF1 and predisposes patients to developing nervous system tumors.
Sara H. Osum +12 more
doaj +1 more source
Restoring functional neurofibromin by protein transduction [PDF]
, 2018 In Neurofibromatosis 1 (NF1) germ line loss of function mutations result in reduction of cellular neurofibromin content (NF1+/−, NF1 haploinsufficiency). The Ras-GAP neurofibromin is a very large cytoplasmic protein (2818 AA, 319 kDa) involved in the RAS-
Lamla, Markus +15 more
core +1 more source
Neurobiology of Disease, 1995 Vascular pathology is an underestimated complication of neurofibromatosis 1 (NF1). Manifestations include renovascular stenosis with associated hypertension, cerebrovascular occlusion, visceral ischaemia and aneurysms of smaller arteries.
Karen K. Norton +2 more
doaj +1 more source