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
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 haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/– mice [PDF]
The Journal of Clinical InvestigationNeurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations of the NF1 tumor suppressor gene resulting in the loss of function of neurofibromin, a GTPase-activating protein (GAP) for Ras.
Su Jung Park +18 more
doaj +2 more sources
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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The NF1 somatic mutational landscape in sporadic human cancers [PDF]
Human Genomics, 2017 Background Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome.
Charlotte Philpott +4 more
doaj +4 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
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
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
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
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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