Genetic interactions between neurofibromin and endothelin receptor B in mice. [PDF]
PLoS ONE, 2013 When mutations in two different genes produce the same mutant phenotype, it suggests that the encoded proteins either interact with each other, or act in parallel to fulfill a similar purpose.
Mugdha Deo +2 more
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Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila
Nature Communications, 2021 Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in neurofibromin and associated with disruptions in physiology and behavior. Here the authors show that neurofibromin regulates metabolic homeostasis via a discrete brain circuit in
Valentina Botero +12 more
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Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia [PDF]
Disease Models & Mechanisms, 2023 Leonard D. Kuhrt +14 more
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A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1 [PDF]
Chinese Medical Journal, 2017 Ying-Ying Dong +9 more
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Mechanistic insights from animal models of neurofibromatosis type 1 cognitive impairment
Disease Models & Mechanisms, 2022 Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurogenetic disorder caused by mutations in the gene neurofibromin 1 (NF1). NF1 predisposes individuals to a variety of symptoms, including peripheral nerve tumors, brain tumors and cognitive ...
Andrew H. Miller, Mary C. Halloran
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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
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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
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