Results 11 to 20 of about 21,253 (159)
Neurofibromin Structure, Functions and Regulation
Cells, 2020 Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 (NF1).
Mohammed Bergoug +5 more
doaj +3 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
Cell Reports, 2017 Mutations in neurofibromin, a Ras GTPase-activating protein, lead to the tumor predisposition syndrome neurofibromatosis type 1. Here, we report that cells lacking neurofibromin exhibit enhanced glycolysis and decreased respiration in a Ras/ERK-dependent
Ionica Masgras +18 more
doaj +3 more sources
PLoS ONE, 2018 The fertility of men with neurofibromatosis 1 (NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to assess the role of reduced neurofibromin in the testes, we examined testicular morphology ...
Harleen Chohan +6 more
doaj +3 more sources
Neurofibromin 1 in mushroom body neurons mediates circadian wake drive through activating cAMP-PKA signaling. [PDF]
Nat Commun, 2021 Abstract Various behavioral and cognitive states exhibit circadian variations in animals across phyla including Drosophila melanogaster , in which only ~0.1% of the brain’s neurons contain circadian clocks.
Machado Almeida P +4 more
europepmc +5 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
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non-NF1 patients and role of R1276. [PDF]
FEBS Open BioSomatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Selig M +7 more
europepmc +2 more sources
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
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source