Results 31 to 40 of about 22,652 (194)
Neurofibromin expression by normal salivary glands
Head & Face Medicine, 2021 Introduction Neurofibromin, a protein encoded by the NF1 gene, is mutated in neurofibromatosis 1, one of the most common genetic diseases. Oral manifestations are common and a high prevalence of hyposalivation was recently described in individuals with ...
Eloá Borges Luna +3 more
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Kidney & Blood Pressure Research, 2023 Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene.
Yi-Ting Lu +7 more
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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
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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
The neurofibromatosis type 1 gene and its protein product, neurofibromin [PDF]
Neuron, 1993 Von Recklinghausen neurofibromatosis, or neurofibromatosis type 1 (NFI), affects approximately 1 in 3500 individuals of all ethnic backgrounds. It is inherited as an autosomal dominant disease and is manifested clinically by abnormalities that predominantly affect tissues which derive from the neural crest (Riccardi, 1981,199l; Riccardi and Eichner ...
Gutmann, David H., Collins, Francis S.
openaire +3 more sources
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
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
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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
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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
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Lesional Psoriatic Epidermis Displays Reduced Neurofibromin Immunoreactivity [PDF]
, 1995 Neurofibromin enhances the inactivation of protooncogene p21ras and has been suggested to function as a regulator of cell growth and differentiation. In normal skin, neurofibromin is particularly abundant in the basal keratinocytes of epidermis.
Karvonen, Jaakko +4 more
core +1 more source