Results 31 to 40 of about 25,840 (207)
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 [PDF]
Human Molecular Genetics, 1998 Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, café-au-lait spots (CLS), iris Lisch nodules, axillary freckling, optic glioma, specific bone lesions and an increased risk of malignant tumours. It is caused by a wide spectrum of mutations affecting the NF1 gene.
A, Klose +10 more
openaire +2 more sources
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
doaj +1 more source
Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]
, 2018 The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep +2 more
core +3 more sources
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2010 Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire +2 more sources
Neurofibromatosis type 1: Fundamental insights into cell signalling and cancer [PDF]
, 2016 Neurofibromatosis type 1 (NF1) is an autosomal dominant tumour predisposition syndrome that is caused through loss of function mutations of a tumour suppressor gene called Neurofibromin 1.
Rad, Ellie, Tee, Andrew
core +2 more sources
Comparative oncogenomics implicates the neurofibromin 1 gene (NF1) as a breast cancer driver. [PDF]
Genetics, 2012 AbstractIdentifying genomic alterations driving breast cancer is complicated by tumor diversity and genetic heterogeneity. Relevant mouse models are powerful for untangling this problem because such heterogeneity can be controlled. Inbred Chaos3 mice exhibit high levels of genomic instability leading to mammary tumors that have tumor gene expression ...
Wallace MD +9 more
europepmc +4 more sources
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
doaj +1 more source
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]
, 2013 Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M +3 more
core +1 more source
Neurofibromatosis-1 regulation of neural stem cell proliferation and multilineage differentiation operates through distinct RAS effector pathways [PDF]
, 2015 Neurofibromatosis type 1 (NF1) is a common neurodevelopmental disorder caused by impaired function of the neurofibromin RAS regulator. Using a combination of Nf1 genetically engineered mice and pharmacological/genetic inhibition approaches, we report ...
Chen, Yi-Hsien +2 more
core +2 more sources
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Review on NF1 (neurofibromin 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire +1 more source