Neurofibromin 1 regulates early developmental sleep in Drosophila [PDF]
Neurobiology of Sleep and Circadian Rhythms, 2023 Sleep disturbances are common in neurodevelopmental disorders, but knowledge of molecular factors that govern sleep in young animals is lacking. Evidence across species, including Drosophila, suggests that juvenile sleep has distinct functions and ...
Jaclyn Durkin +6 more
doaj +6 more sources
Neurofibromin 1 is a miRNA target in neurons. [PDF]
PLoS ONE, 2012 Mutations of the neurofibromin 1 gene cause neurofibromatosis type 1, a disease in which learning and behavioral abnormalities are common. The disease is completely penetrant but shows variable phenotypic expression in patients.
Maria Paschou, Epaminondas Doxakis
doaj +7 more sources
Neurofibromin 1 mediates sleep depth in Drosophila. [PDF]
PLoS Genetics, 2023 Neural regulation of sleep and metabolic homeostasis are critical in many aspects of human health. Despite extensive epidemiological evidence linking sleep dysregulation with obesity, diabetes, and metabolic syndrome, little is known about the neural and
Elizabeth B Brown +6 more
doaj +4 more sources
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1 [PDF]
Journal of Neurochemistry, 2015 AbstractNeurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition caused by dominant loss‐of‐function mutations of the tumor suppressor gene NF1 that encodes neurofibromin, a negative regulator of RAS activity. Mutation analysis of NF1 located at 17q11.2 has been hampered by the large size of the gene, the high rate of new mutations ...
TERESA Esposito +2 more
exaly +5 more sources
MicroRNA-193b enhances tumor progression via down regulation of neurofibromin 1. [PDF]
PLoS ONE, 2013 Despite improvements in therapeutic approaches for head and neck squamous cell carcinomas (HNSCC), clinical outcome has remained disappointing, with 5-year overall survival rates hovering around 40-50%, underscoring an urgent need to better understand ...
Michelle Lenarduzzi +7 more
doaj +4 more sources
Expression of neurofibromin 1 in colorectal cancer and cetuximab resistance. [PDF]
Oncol Rep, 2022 Neurofibromin 1 (NF1) is a tumor suppressor that has been previously reported to regulate RAS‑MAPK signaling. The present study investigated the possible relationship between NF1 expression and anti‑EGFR antibody (cetuximab) sensitivity in colorectal cancer cell lines.
Tak E +11 more
europepmc +4 more sources
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
doaj +3 more sources
Neurofibromin 1 Impairs Natural Killer T-Cell-Dependent Antitumor Immunity against a T-Cell Lymphoma [PDF]
Frontiers in Immunology, 2018 Neurofibromin 1 (NF1) is a tumor suppressor gene encoding a Ras GTPase that negatively regulates Ras signaling pathways. Mutations in NF1 are linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome.
Jianyun Liu +6 more
doaj +2 more sources
Molecular characteristics and clinical outcomes of patients with Neurofibromin 1-altered metastatic colorectal cancer. [PDF]
Oncogene, 2022 Loss-of-function alterations of Neurofibromin 1 (NF1) activate RAS, a driver of colorectal cancer. However, the clinical implications of NF1 alterations are largely unknown. We performed a comprehensive molecular profiling of NF1-mutant colorectal cancer using data from 8150 patients included in a dataset of commercial CLIA-certified laboratory (Caris ...
Arai H +28 more
europepmc +3 more sources
Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling. [PDF]
PLoS GeneticsNeurofibromatosis type 1 results from mutations in the NF1 gene and its encoded neurofibromin protein. This condition produces multiple symptoms, including tumors, behavioral alterations, and metabolic changes. Molecularly, neurofibromin mutations affect
Valentina Botero +6 more
doaj +2 more sources