Results 31 to 40 of about 21,253 (159)
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
Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I
Molecular Therapy: Nucleic Acids, 2022 We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
André Leier +15 more
doaj +1 more source
The Ras GTPase-activating protein neurofibromin 1 promotes the positive selection of thymocytes. [PDF]
Mol Immunol, 2013 TCR-mediated activation of the Ras signaling pathway is critical for T cell development in the thymus and function in the periphery. However, which members of a family of Ras GTPase-activating proteins (RasGAPs) negatively regulate Ras activation in T cells is unknown.
Oliver JA +6 more
europepmc +4 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
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
Phosphorylation of neurofibromatosis type 1 gene product (neurofibromin) by cAMP‐dependent protein kinase [PDF]
FEBS Letters, 1996 The critical function of the neurofibromatosis type 1 NF1) gene product (neurofabromin) is not well defined except that neurofibromin has homology with a family of the GTPase‐activating proteins (GAPs). In this study, we confirmed that neuofibromin is constitutively phosphorylated and detected kinase activities which specifically phosphorylated the ...
Izawa, Ichiro +2 more
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Neurobiology of Disease, 1995 Vascular pathology is an underestimated complication of neurofibromatosis 1 (NF1). Manifestations include renovascular stenosis with associated hypertension, cerebrovascular occlusion, visceral ischaemia and aneurysms of smaller arteries.
Karen K. Norton +2 more
doaj +1 more source
Cell Reports, 2020 Summary: Neurofibromatosis type 1 (NF1) is a dominant genetic disorder manifesting, in part, as cognitive defects. Previous study indicated that neurofibromin (NF1 protein) interacts with valosin-containing protein (VCP)/P97 to control dendritic spine ...
Yu-Tzu Shih +4 more
doaj +1 more source
Identification of Germinal Neurofibromin Hotspots
Biomedicines, 2022 Neurofibromin is engaged in many cellular processes and when the proper protein functioning is impaired, it causes neurofibromatosis type 1 (NF1), one of the most common inherited neurological disorders. Recent advances in sequencing and screening of the
Sergio Lois +4 more
doaj +1 more source